Name

ROR2 Gene

g>receptorg> tyrosine kinase-like orphan g>receptorg> 2

The protein encoded by this g>gg>ene is a g>receptorg> protein tyrosine kinase and type I transmembrane protein that belong>gg>s to the ROR subfamily of cell surface g>receptorg>s. The protein may be involved in the early formation of the chondrocytes and may be required for cartilag>gg>e and g>gg>rowth plate development. Mutations in this g>gg>ene can cause brachydactyly type B, a skeletal disorder characterized by hypoplasia/aplasia of distal phalang>gg>es and nails. In addition, mutations in this g>gg>ene can cause the autosomal recessive form of Robinow syndrome, which is characterized by skeletal dysplasia with g>gg>eneralized limb bone shortening>gg>, seg>gg>mental defects of the spine, brachydactyly, and a dysmorphic facial appearance. [provided by RefSeq, Jul 2008]

ROR1 Gene

g>receptorg> tyrosine kinase-like orphan g>receptorg> 1

This g>gg>ene encodes a g>receptorg> tyrosine kinase-like orphan g>receptorg> that modulates neurite g>gg>rowth in the central nervous system. The encoded protein is a g>gg>lycosylated type I membrane protein that belong>gg>s to the ROR subfamily of cell surface g>receptorg>s. It is a pseudokinase that lacks catalytic activity and may interact with the non-canonical Wnt sig>gg>nalling>gg> pathway. This g>gg>ene is hig>gg>hly expressed during>gg> early embryonic development but expressed at very low levels in adult tissues. Increased expression of this g>gg>ene is associated with B-cell chronic lymphocytic leukaemia. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Jun 2012]

NR3C1 Gene

nuclear g>receptorg> subfamily 3, g>gg>roup C, member 1 (g>gg>lucocorticoid g>receptorg>)

This g>gg>ene encodes g>gg>lucocorticoid g>receptorg>, which can function both as a transcription factor that binds to g>gg>lucocorticoid response elements in the promoters of g>gg>lucocorticoid responsive g>gg>enes to activate their transcription, and as a reg>gg>ulator of other transcription factors. This g>receptorg> is typically found in the cytoplasm, but upon lig>gg>and binding>gg>, is transported into the nucleus. It is involved in inflammatory responses, cellular proliferation, and differentiation in targ>gg>et tissues. Mutations in this g>gg>ene are associated with g>gg>eneralized g>gg>lucocorticoid resistance. Alternative splicing>gg> of this g>gg>ene results in transcript variants encoding>gg> either the same or different isoforms. Additional isoforms resulting>gg> from the use of alternate in-frame translation initiation sites have also been described, and shown to be functional, displaying>gg> diverse cytoplasm-to-nucleus trafficking>gg> patterns and distinct transcriptional activities (PMID:15866175). [provided by RefSeq, Feb 2011]

MC1R Gene

melanocortin 1 g>receptorg> (alpha melanocyte stimulating>gg> hormone g>receptorg>)

This intronless g>gg>ene encodes the g>receptorg> protein for melanocyte-stimulating>gg> hormone (MSH). The encoded protein, a seven pass transmembrane g>Gg> protein coupled g>receptorg>, controls melanog>gg>enesis. Two types of melanin exist: red pheomelanin and black eumelanin. g>Gg>ene mutations that lead to a loss in function are associated with increased pheomelanin production, which leads to lig>gg>hter skin and hair color. Eumelanin is photoprotective but pheomelanin may contribute to UV-induced skin damag>gg>e by g>gg>enerating>gg> free radicals upon UV radiation. Binding>gg> of MSH to its g>receptorg> activates the g>receptorg> and stimulates eumelanin synthesis. This g>receptorg> is a major determining>gg> factor in sun sensitivity and is a g>gg>enetic risk factor for melanoma and non-melanoma skin cancer. Over 30 variant alleles have been identified which correlate with skin and hair color, providing>gg> evidence that this g>gg>ene is an important component in determining>gg> normal human pig>gg>ment variation. [provided by RefSeq, Jul 2008]

PPFIA4 Gene

protein tyrosine phosphatase, g>receptorg> type, f polypeptide (PTPRF), interacting>gg> protein (liprin), alpha 4

PPFIA4, or liprin-alpha-4, belong>gg>s to the liprin-alpha g>gg>ene family. See liprin-alpha-1 (LIP1, or PPFIA1; MIM 611054) for backg>gg>round on liprins.[supplied by OMIM, Mar 2008]

LOC100422713 Gene

protein tyrosine phosphatase, g>receptorg> type, f polypeptide (PTPRF), interacting>gg> protein (liprin), alpha 1 pseudog>gg>ene

LOC100422710 Gene

protein tyrosine phosphatase, g>receptorg> type, f polypeptide (PTPRF), interacting>gg> protein (liprin), alpha 1 pseudog>gg>ene

PTPRCAP Gene

protein tyrosine phosphatase, g>receptorg> type, C-associated protein

The protein encoded by this g>gg>ene was identified as a transmembrane phosphoprotein specifically associated with tyrosine phosphatase PTPRC/CD45, a key reg>gg>ulator of T- and B-lymphocyte activation. The interaction with PTPRC may be required for the stable expression of this protein. [provided by RefSeq, Jul 2008]

PPFIA2 Gene

protein tyrosine phosphatase, g>receptorg> type, f polypeptide (PTPRF), interacting>gg> protein (liprin), alpha 2

The protein encoded by this g>gg>ene is a member of the LAR protein-tyrosine phosphatase-interacting>gg> protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon g>gg>uidance and mammary g>gg>land development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring>gg> of LAR family of tyrosine phosphatases. This protein has been shown to bind the calcium/calmodulin-dependent serine protein kinase (MAg>Gg>UK family) protein (also known as CASK) and proposed to reg>gg>ulate hig>gg>her-order brain functions in mammals. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Sep 2013]

PPFIA3 Gene

protein tyrosine phosphatase, g>receptorg> type, f polypeptide (PTPRF), interacting>gg> protein (liprin), alpha 3

The protein encoded by this g>gg>ene is a member of the LAR protein-tyrosine phosphatase-interacting>gg> protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon g>gg>uidance and mammary g>gg>land development. Liprin family protein has been shown to localize phosphatase LAR to cell focal adhesions and may be involved in the molecular org>gg>anization of presynaptic active zones. [provided by RefSeq, Jul 2008]

PPFIA1 Gene

protein tyrosine phosphatase, g>receptorg> type, f polypeptide (PTPRF), interacting>gg> protein (liprin), alpha 1

The protein encoded by this g>gg>ene is a member of the LAR protein-tyrosine phosphatase-interacting>gg> protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon g>gg>uidance and mammary g>gg>land development. This protein binds to the intracellular membrane-distal phosphatase domain of tyrosine phosphatase LAR, and appears to localize LAR to cell focal adhesions. This interaction may reg>gg>ulate the disassembly of focal adhesion and thus help orchestrate cell-matrix interactions. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been described. [provided by RefSeq, Jul 2008]

PTPN18 Gene

protein tyrosine phosphatase, non-g>receptorg> type 18 (brain-derived)

The protein encoded by this g>gg>ene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be sig>gg>naling>gg> molecules that reg>gg>ulate a variety of cellular processes including>gg> cell g>gg>rowth, differentiation, the mitotic cycle, and oncog>gg>enic transformation. This PTP contains a PEST motif, which often serves as a protein-protein interaction domain, and may be related to protein intracellular half-live. This protein can differentially dephosphorylate autophosphorylated tyrosine kinases that are overexpressed in tumor tissues, and it appears to reg>gg>ulate HER2, a member of the epidermal g>gg>rowth factor g>receptorg> family of g>receptorg> tyrosine kinases. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Nov 2008]

PTPN13 Gene

protein tyrosine phosphatase, non-g>receptorg> type 13 (APO-1/CD95 (Fas)-associated phosphatase)

The protein encoded by this g>gg>ene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are sig>gg>naling>gg> molecules that reg>gg>ulate a variety of cellular processes including>gg> cell g>gg>rowth, differentiation, mitotic cycle, and oncog>gg>enic transformation. This PTP is a larg>gg>e intracellular protein. It has a catalytic PTP domain at its C-terminus and two major structural domains: a reg>gg>ion with five PDZ domains and a FERM domain that binds to plasma membrane and cytoskeletal elements. This PTP was found to interact with, and dephosphorylate, Fas g>receptorg> and IkappaBalpha throug>gg>h the PDZ domains. This sug>gg>g>gg>ests it has a role in Fas mediated prog>gg>rammed cell death. This PTP was also shown to interact with g>Gg>TPase-activating>gg> protein, and thus may function as a reg>gg>ulator of Rho sig>gg>naling>gg> pathways. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Oct 2008]

PTPN12 Gene

protein tyrosine phosphatase, non-g>receptorg> type 12

The protein encoded by this g>gg>ene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are sig>gg>naling>gg> molecules that reg>gg>ulate a variety of cellular processes including>gg> cell g>gg>rowth, differentiation, mitotic cycle, and oncog>gg>enic transformation. This PTP contains a C-terminal PEST motif, which serves as a protein-protein interaction domain, and may reg>gg>ulate protein intracellular half-life. This PTP was found to bind and dephosphorylate the product of the oncog>gg>ene c-ABL and thus may play a role in oncog>gg>enesis. This PTP was also shown to interact with, and dephosphorylate, various products related to cytoskeletal structure and cell adhesion, such as p130 (Cas), CAKbeta/PTK2B, PSTPIP1, and paxillin. This sug>gg>g>gg>ests it has a reg>gg>ulatory role in controlling>gg> cell shape and mobility. Alternative splicing>gg> results in multiple transcript variants encoding>gg> distinct isoforms. [provided by RefSeq, Oct 2008]

PTPN11 Gene

protein tyrosine phosphatase, non-g>receptorg> type 11

The protein encoded by this g>gg>ene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be sig>gg>naling>gg> molecules that reg>gg>ulate a variety of cellular processes including>gg> cell g>gg>rowth, differentiation, mitotic cycle, and oncog>gg>enic transformation. This PTP contains two tandem Src homolog>gg>y-2 domains, which function as phospho-tyrosine binding>gg> domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a reg>gg>ulatory role in various cell sig>gg>naling>gg> events that are important for a diversity of cell functions, such as mitog>gg>enic activation, metabolic control, transcription reg>gg>ulation, and cell mig>gg>ration. Mutations in this g>gg>ene are a cause of Noonan syndrome as well as acute myeloid leukemia. [provided by RefSeq, Aug>gg> 2016]

PTPN14 Gene

protein tyrosine phosphatase, non-g>receptorg> type 14

The protein encoded by this g>gg>ene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be sig>gg>naling>gg> molecules that reg>gg>ulate a variety of cellular processes including>gg> cell g>gg>rowth, differentiation, mitotic cycle, and oncog>gg>enic transformation. This PTP contains an N-terminal noncatalytic domain similar to that of band 4.1 superfamily cytoskeleton-associated proteins, which sug>gg>g>gg>ested the membrane or cytoskeleton localization of this protein. It appears to reg>gg>ulate lymphatic development in mammals, and a loss of function mutation has been found in a kindred with a lymphedema-choanal atresia. [provided by RefSeq, Sep 2010]

LOC100421595 Gene

thyroid hormone g>receptorg> associated protein 3 pseudog>gg>ene

IL18RAP Gene

interleukin 18 g>receptorg> accessory protein

The protein encoded by this g>gg>ene is an accessory subunit of the heterodimeric g>receptorg> for interleukin 18 (IL18), a proinflammatory cytokine involved in inducing>gg> cell-mediated immunity. This protein enhances the IL18-binding>gg> activity of the IL18 g>receptorg> and plays a role in sig>gg>naling>gg> by IL18. Mutations in this g>gg>ene are associated with Crohn's disease and inflammatory bowel disease, and susceptibility to celiac disease and leprosy. Alternatively spliced transcript variants of this g>gg>ene have been described, but their full-leng>gg>th nature is not known. [provided by RefSeq, Feb 2014]

LOC105369264 Gene

tyrosine-protein phosphatase non-g>receptorg> type 20

CNRIP1 Gene

cannabinoid g>receptorg> interacting>gg> protein 1

This g>gg>ene encodes a protein that interacts with the C-terminal tail of cannabinoid g>receptorg> 1. Two transcript variants encoding>gg> different isoforms have been described for this g>gg>ene. [provided by RefSeq, Jul 2013]

g>Gg>RID2IP Gene

g>gg>lutamate g>receptorg>, ionotropic, delta 2 (g>Gg>rid2) interacting>gg> protein

g>Gg>lutamate g>receptorg> delta-2 (g>Gg>RID2; MIM 602368) is predominantly expressed at parallel fiber-Purkinje cell postsynapses and plays crucial roles in synaptog>gg>enesis and synaptic plasticity. g>Gg>RID2IP1 interacts with g>Gg>RID2 and may control g>Gg>RID2 sig>gg>naling>gg> in Purkinje cells (Matsuda et al., 2006 [PubMed 16835239]).[supplied by OMIM, Mar 2008]

Ng>Gg>FRAP1 Gene

nerve g>gg>rowth factor g>receptorg> (TNFRSF16) associated protein 1

Enables identical protein binding>gg> activity. Predicted to be involved in neg>gg>ative reg>gg>ulation of protein ubiquitination and sig>gg>nal transduction. Predicted to act upstream of or within extrinsic apoptotic sig>gg>naling>gg> pathway via death domain g>receptorg>s. Located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100422537 Gene

sig>gg>nal sequence g>receptorg>, g>gg>amma (translocon-associated protein g>gg>amma) pseudog>gg>ene

LOC105379539 Gene

tyrosine-protein phosphatase non-g>receptorg> type 23-like

IRAK1BP1 Gene

interleukin-1 g>receptorg>-associated kinase 1 binding>gg> protein 1

Predicted to enable sig>gg>naling>gg> adaptor activity. Predicted to be involved in canonical NF-kappaB sig>gg>nal transduction. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105378176 Gene

proline-rich g>receptorg>-like protein kinase PERK2

THRAP3P1 Gene

thyroid hormone g>receptorg> associated protein 3 pseudog>gg>ene 1

STRAP Gene

serine/threonine kinase g>receptorg> associated protein

Enables RNA binding>gg> activity. Involved in maintenance of g>gg>astrointestinal epithelium and spliceosomal snRNP assembly. Acts upstream of with a positive effect on neg>gg>ative reg>gg>ulation of transforming>gg> g>gg>rowth factor beta g>receptorg> sig>gg>naling>gg> pathway. Located in cytosol. Part of SMN complex. Implicated in adenocarcinoma; colorectal carcinoma; larg>gg>e cell carcinoma; lung>gg> carcinoma; and squamous cell neoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PTPN22 Gene

protein tyrosine phosphatase, non-g>receptorg> type 22 (lymphoid)

This g>gg>ene encodes of member of the non-g>receptorg> class 4 subfamily of the protein-tyrosine phosphatase family. The encoded protein is a lymphoid-specific intracellular phosphatase that associates with the molecular adapter protein CBL and may be involved in reg>gg>ulating>gg> CBL function in the T-cell g>receptorg> sig>gg>naling>gg> pathway. Mutations in this g>gg>ene may be associated with a rang>gg>e of autoimmune disorders including>gg> Type 1 Diabetes, rheumatoid arthritis, systemic lupus erythematosus and g>Gg>raves' disease. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been described. [provided by RefSeq, Mar 2009]

PTPN23 Gene

protein tyrosine phosphatase, non-g>receptorg> type 23

This g>gg>ene encodes a member of the non-g>receptorg> type protein-tyrosine phosphatase family. The encoded protein may be involved in the reg>gg>ulation of small nuclear ribonucleo protein assembly and pre-mRNA splicing>gg> by modifying>gg> the survival motor neuron (SMN) complex. The encoded protein additionally plays a role in ciliog>gg>enesis and is part of endosomal sorting>gg> complex required for transport (ESCRT) pathways. This g>gg>ene may serve a tumor suppressor function. [provided by RefSeq, Jul 2016]

PTPN20 Gene

protein tyrosine phosphatase, non-g>receptorg> type 20

The product of this g>gg>ene belong>gg>s to the family of classical tyrosine-specific protein tyrosine phosphatases. Many protein tyrosine phosphatases have been shown to reg>gg>ulate fundamental cellular processes. The encoded protein appears to be targ>gg>eted to sites of actin polymerization. A pseudog>gg>ene of this g>gg>ene has been defined on chromosome 10. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Apr 2014]

PTPN21 Gene

protein tyrosine phosphatase, non-g>receptorg> type 21

The protein encoded by this g>gg>ene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be sig>gg>naling>gg> molecules that reg>gg>ulate a variety of cellular processes including>gg> cell g>gg>rowth, differentiation, mitotic cycle, and oncog>gg>enic transformation. This PTP contains an N-terminal domain, similar to cytoskeletal- associated proteins including>gg> band 4.1, ezrin, merlin, and radixin. This PTP was shown to specially interact with BMX/ETK, a member of Tec tyrosine kinase family characterized by a multimodular structures including>gg> PH, SH3, and SH2 domains. The interaction of this PTP with BMX kinase was found to increase the activation of STAT3, but not STAT2 kinase. Studies of the similar g>gg>ene in mice sug>gg>g>gg>ested the possible roles of this PTP in liver reg>gg>eneration and spermatog>gg>enesis. [provided by RefSeq, Jul 2008]

TRPC4AP Gene

transient g>receptorg> potential cation channel, subfamily C, member 4 associated protein

Enables phosphatase binding>gg> activity and ubiquitin-like lig>gg>ase-substrate adaptor activity. Involved in protein ubiquitination and ubiquitin-dependent protein catabolic process via the C-end deg>gg>ron rule pathway. Part of Cul4A-RINg>Gg> E3 ubiquitin lig>gg>ase complex. Is active in Cul4-RINg>Gg> E3 ubiquitin lig>gg>ase complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NRIP1 Gene

nuclear g>receptorg> interacting>gg> protein 1

Nuclear g>receptorg> interacting>gg> protein 1 (NRIP1) is a nuclear protein that specifically interacts with the hormone-dependent activation domain AF2 of nuclear g>receptorg>s. Also known as RIP140, this protein modulates transcriptional activity of the estrog>gg>en g>receptorg>. [provided by RefSeq, Jul 2008]

NRIP2 Gene

nuclear g>receptorg> interacting>gg> protein 2

Predicted to enable aspartic-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to act upstream of or within Notch sig>gg>naling>gg> pathway and neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II. Located in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NRIP3 Gene

nuclear g>receptorg> interacting>gg> protein 3

Predicted to enable aspartic-type endopeptidase activity. Predicted to be involved in proteolysis. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PROCR Gene

protein C g>receptorg>, endothelial

The protein encoded by this g>gg>ene is a g>receptorg> for activated protein C, a serine protease activated by and involved in the blood coag>gg>ulation pathway. The encoded protein is an N-g>gg>lycosylated type I membrane protein that enhances the activation of protein C. Mutations in this g>gg>ene have been associated with venous thromboembolism and myocardial infarction, as well as with late fetal loss during>gg> preg>gg>nancy. The encoded protein may also play a role in malarial infection and has been associated with cancer. [provided by RefSeq, Jul 2013]

MRAP Gene

melanocortin 2 g>receptorg> accessory protein

This g>gg>ene encodes a melanocortin g>receptorg>-interacting>gg> protein. The encoded protein reg>gg>ulates trafficking>gg> and function of the melanocortin 2 g>receptorg> in the adrenal g>gg>land. The encoded protein can also modulate sig>gg>naling>gg> of other melanocortin g>receptorg>s. Mutations in this g>gg>ene have been associated with familial g>gg>lucocorticoid deficiency type 2. Alternatively spliced transcript variants have been described. [provided by RefSeq, Dec 2009]

SSR2 Gene

sig>gg>nal sequence g>receptorg>, beta (translocon-associated protein beta)

The sig>gg>nal sequence g>receptorg> (SSR) is a g>gg>lycosylated endoplasmic reticulum (ER) membrane g>receptorg> associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD g>gg>lycoprotein (alpha-SSR or SSR1) and a 22-kD g>gg>lycoprotein (beta-SSR or SSR2). The human beta-sig>gg>nal sequence g>receptorg> g>gg>ene (SSR2) maps to chromosome bands 1q21-q23. [provided by RefSeq, Jul 2008]

SSR3 Gene

sig>gg>nal sequence g>receptorg>, g>gg>amma (translocon-associated protein g>gg>amma)

The sig>gg>nal sequence g>receptorg> (SSR) is a g>gg>lycosylated endoplasmic reticulum (ER) membrane g>receptorg> associated with protein translocation across the ER membrane. The SSR is comprised of four membrane proteins/subunits: alpha, beta, g>gg>amma, and delta. The first two are g>gg>lycosylated subunits and the latter two are non-g>gg>lycosylated subunits. This g>gg>ene encodes the g>gg>amma subunit, which is predicted to span the membrane four times. [provided by RefSeq, Aug>gg> 2010]

PLg>Gg>RKT Gene

plasminog>gg>en g>receptorg>, C-terminal lysine transmembrane protein

Predicted to be involved in positive reg>gg>ulation of plasminog>gg>en activation. Located in mitochondrion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC442113 Gene

protein tyrosine phosphatase, non-g>receptorg> type 11 pseudog>gg>ene

NR2C2AP Gene

nuclear g>receptorg> 2C2-associated protein

Located in nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>RB10 Gene

g>gg>rowth factor g>receptorg>-bound protein 10

The product of this g>gg>ene belong>gg>s to a small family of adapter proteins that are known to interact with a number of g>receptorg> tyrosine kinases and sig>gg>naling>gg> molecules. This g>gg>ene encodes a g>gg>rowth factor g>receptorg>-binding>gg> protein that interacts with insulin g>receptorg>s and insulin-like g>gg>rowth-factor g>receptorg>s. Overexpression of some isoforms of the encoded protein inhibits tyrosine kinase activity and results in g>gg>rowth suppression. This g>gg>ene is imprinted in a hig>gg>hly isoform- and tissue-specific manner, with expression observed from the paternal allele in the brain, and from the maternal allele in the placental trophoblasts. Alternatively spliced transcript variants encoding>gg> different isoforms have been identified. [provided by RefSeq, Oct 2010]

g>Gg>RB14 Gene

g>gg>rowth factor g>receptorg>-bound protein 14

The product of this g>gg>ene belong>gg>s to a small family of adapter proteins that are known to interact with a number of g>receptorg> tyrosine kinases and sig>gg>naling>gg> molecules. This g>gg>ene encodes a g>gg>rowth factor g>receptorg>-binding>gg> protein that interacts with insulin g>receptorg>s and insulin-like g>gg>rowth-factor g>receptorg>s. This protein likely has an inhibitory effect on g>receptorg> tyrosine kinase sig>gg>naling>gg> and, in particular, on insulin g>receptorg> sig>gg>naling>gg>. This g>gg>ene may play a role in sig>gg>naling>gg> pathways that reg>gg>ulate g>gg>rowth and metabolism. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Dec 2014]

g>Gg>RINA Gene

g>gg>lutamate g>receptorg>, ionotropic, N-methyl D-aspartate-associated protein 1 (g>gg>lutamate binding>gg>)

Predicted to enable calcium channel activity. Predicted to be involved in apoptotic sig>gg>naling>gg> pathway; neg>gg>ative reg>gg>ulation of extrinsic apoptotic sig>gg>naling>gg> pathway via death domain g>receptorg>s; and neg>gg>ative reg>gg>ulation of neuron apoptotic process. Predicted to act upstream of or within endoplasmic reticulum calcium ion homeostasis and neg>gg>ative reg>gg>ulation of endoplasmic reticulum stress-induced intrinsic apoptotic sig>gg>naling>gg> pathway. Located in g>Gg>olg>gg>i membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>RASP Gene

g>Gg>RP1 (g>gg>eneral g>receptorg> for phosphoinositides 1)-associated scaffold protein

This g>gg>ene encodes a protein that functions as a molecular scaffold, linking>gg> g>receptorg>s, including>gg> g>gg>roup 1 metabotropic g>gg>lutamate g>receptorg>s, to neuronal proteins. The encoded protein contains conserved domains, including>gg> a leucine zipper sequence, PDZ domain and a C-terminal PDZ-binding>gg> motif. Alternately spliced transcript variants have been observed for this g>gg>ene.[provided by RefSeq, Dec 2012]

PTPRZ2 Gene

protein tyrosine phosphatase, g>receptorg>-type, Z polypeptide 2

PTPRZ1 Gene

protein tyrosine phosphatase, g>receptorg>-type, Z polypeptide 1

This g>gg>ene encodes a member of the g>receptorg> protein tyrosine phosphatase family. Expression of this g>gg>ene is restricted to the central nervous system (CNS), and it may be involved in the reg>gg>ulation of specific developmental processes in the CNS. Alternatively spliced transcript variants encoding>gg> different isoforms have been described for this g>gg>ene. [provided by RefSeq, May 2011]

NSD1 Gene

nuclear g>receptorg> binding>gg> SET domain protein 1

This g>gg>ene encodes a protein containing>gg> a SET domain, 2 LXXLL motifs, 3 nuclear translocation sig>gg>nals (NLSs), 4 plant homeodomain (PHD) fing>gg>er reg>gg>ions, and a proline-rich reg>gg>ion. The encoded protein enhances androg>gg>en g>receptorg> (AR) transactivation, and this enhancement can be increased further in the presence of other androg>gg>en g>receptorg> associated coreg>gg>ulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional reg>gg>ulator. Mutations of this g>gg>ene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring>gg> within nuclear g>receptorg>-binding>gg> Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Multiple transcript variants encoding>gg> distinct isoforms have been identified for this g>gg>ene. [provided by RefSeq, Sep 2018]

PTPN3 Gene

protein tyrosine phosphatase, non-g>receptorg> type 3

The protein encoded by this g>gg>ene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be sig>gg>naling>gg> molecules that reg>gg>ulate a variety of cellular processes including>gg> cell g>gg>rowth, differentiation, mitotic cycle, and oncog>gg>enic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homolog>gg>ous to the band 4.1 superfamily of cytoskeletal-associated proteins. P97, a cell cycle reg>gg>ulator involved in a variety of membrane related functions, has been shown to be a substrate of this PTP. This PTP was also found to interact with, and be reg>gg>ulated by adaptor protein 14-3-3 beta. Several alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Feb 2009]

IL1RAP Gene

interleukin 1 g>receptorg> accessory protein

This g>gg>ene encodes a component of the interleukin 1 g>receptorg> complex, which initiates sig>gg>nalling>gg> events that result in the activation of interleukin 1-responsive g>gg>enes. Alternative splicing>gg> of this g>gg>ene results in membrane-bound and soluble isoforms differing>gg> in their C-terminus. The ratio of soluble to membrane-bound forms increases during>gg> acute-phase induction or stress. [provided by RefSeq, Jul 2018]

AMFR Gene

autocrine motility factor g>receptorg>, E3 ubiquitin protein lig>gg>ase

This locus encodes a g>gg>lycosylated transmembrane g>receptorg>. Its lig>gg>and, autocrine motility factor, is a tumor motility-stimulating>gg> protein secreted by tumor cells. The encoded g>receptorg> is also a member of the E3 ubiquitin lig>gg>ase family of proteins. It catalyzes ubiquitination and endoplasmic reticulum-associated deg>gg>radation of specific proteins. [provided by RefSeq, Feb 2012]

LOC100422495 Gene

protein tyrosine phosphatase, non-g>receptorg> type 4 (meg>gg>akaryocyte) pseudog>gg>ene

LOC100286746 Gene

g>Gg>ABA(A) g>receptorg>-associated protein-like 2 pseudog>gg>ene

NRBP2 Gene

nuclear g>receptorg> binding>gg> protein 2

Predicted to enable protein serine/threonine kinase activity. Involved in neg>gg>ative reg>gg>ulation of macroautophag>gg>y. Predicted to be active in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NRBP1 Gene

nuclear g>receptorg> binding>gg> protein 1

Predicted to enable protein homodimerization activity and protein serine/threonine kinase activity. Involved in endoplasmic reticulum to g>Gg>olg>gg>i vesicle-mediated transport. Located in endomembrane system. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PTPN2P2 Gene

protein tyrosine phosphatase, non-g>receptorg> type 2 pseudog>gg>ene 2

LOC105379534 Gene

proline-rich g>receptorg>-like protein kinase PERK2

REEP1 Gene

g>receptorg> accessory protein 1

This g>gg>ene encodes a mitochondrial protein that functions to enhance the cell surface expression of odorant g>receptorg>s. Mutations in this g>gg>ene cause spastic parapleg>gg>ia autosomal dominant type 31, a neurodeg>gg>enerative disorder. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Sep 2009]

REEP3 Gene

g>receptorg> accessory protein 3

Predicted to enable microtubule binding>gg> activity. Involved in mitotic nuclear membrane reassembly. Predicted to be located in endoplasmic reticulum; membrane; and microtubule. Predicted to be active in cytoplasmic microtubule; endoplasmic reticulum membrane; and endoplasmic reticulum tubular network. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

REEP2 Gene

g>receptorg> accessory protein 2

This g>gg>ene encodes a member of the g>receptorg> expression enhancing>gg> protein family. Studies of a related g>gg>ene in mouse sug>gg>g>gg>est that the encoded protein is found in the cell membrane and enhances the function of sweet taste g>receptorg>s. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Nov 2012]

REEP5 Gene

g>receptorg> accessory protein 5

Predicted to be involved in endoplasmic reticulum membrane org>gg>anization and reg>gg>ulation of intracellular transport. Located in endoplasmic reticulum tubular network. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

REEP4 Gene

g>receptorg> accessory protein 4

Predicted to enable microtubule binding>gg> activity. Involved in mitotic nuclear membrane reassembly. Located in endoplasmic reticulum. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

REEP6 Gene

g>receptorg> accessory protein 6

The protein encoded by this g>gg>ene may be involved in the transport of g>receptorg>s from the endoplasmic reticulum (ER) to the cell surface. The encoded protein may also play a role in reg>gg>ulating>gg> ER membrane structure. This g>gg>ene is required for the proper development of retinal rods and photog>receptorg>s, with defects in this g>gg>ene being>gg> associated with retinitis pig>gg>mentosa 77. [provided by RefSeq, May 2017]

LOC442263 Gene

protein tyrosine phosphatase, non-g>receptorg> type 11 pseudog>gg>ene

PTPN9 Gene

protein tyrosine phosphatase, non-g>receptorg> type 9

The protein encoded by this g>gg>ene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be sig>gg>naling>gg> molecules that reg>gg>ulate a variety of cellular processes including>gg> cell g>gg>rowth, differentiation, mitotic cycle, and oncog>gg>enic transformation. This PTP contains an N-terminal domain that shares a sig>gg>nificant similarity with yeast SEC14, which is a protein that has phosphatidylinositol transfer activity and is required for protein secretion throug>gg>h the g>Gg>olg>gg>i complex in yeast. This PTP was found to be activated by polyphosphoinositide, and is thoug>gg>ht to be involved in sig>gg>naling>gg> events reg>gg>ulating>gg> phag>gg>ocytosis. [provided by RefSeq, Jul 2008]

PTPN2 Gene

protein tyrosine phosphatase, non-g>receptorg> type 2

The protein encoded by this g>gg>ene is a member of the protein tyrosine phosphatase (PTP) family. Members of the PTP family share a hig>gg>hly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be sig>gg>naling>gg> molecules that reg>gg>ulate a variety of cellular processes including>gg> cell g>gg>rowth, differentiation, mitotic cycle, and oncog>gg>enic transformation. Epidermal g>gg>rowth factor g>receptorg> and the adaptor protein Shc were reported to be substrates of this PTP, which sug>gg>g>gg>ested the roles in g>gg>rowth factor mediated cell sig>gg>naling>gg>. Multiple alternatively spliced transcript variants encoding>gg> different isoforms have been found. Two hig>gg>hly related but distinctly processed pseudog>gg>enes that localize to chromosomes 1 and 13, respectively, have been reported. [provided by RefSeq, May 2011]

PTPN1 Gene

protein tyrosine phosphatase, non-g>receptorg> type 1

The protein encoded by this g>gg>ene is the founding>gg> member of the protein tyrosine phosphatase (PTP) family, which was isolated and identified based on its enzymatic activity and amino acid sequence. PTPs catalyze the hydrolysis of the phosphate monoesters specifically on tyrosine residues. Members of the PTP family share a hig>gg>hly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be sig>gg>naling>gg> molecules that reg>gg>ulate a variety of cellular processes including>gg> cell g>gg>rowth, differentiation, mitotic cycle, and oncog>gg>enic transformation. This PTP has been shown to act as a neg>gg>ative reg>gg>ulator of insulin sig>gg>naling>gg> by dephosphorylating>gg> the phosphotryosine residues of insulin g>receptorg> kinase. This PTP was also reported to dephosphorylate epidermal g>gg>rowth factor g>receptorg> kinase, as well as JAK2 and TYK2 kinases, which implicated the role of this PTP in cell g>gg>rowth control, and cell response to interferon stimulation. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2013]

PTPN7 Gene

protein tyrosine phosphatase, non-g>receptorg> type 7

The protein encoded by this g>gg>ene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be sig>gg>naling>gg> molecules that reg>gg>ulate a variety of cellular processes including>gg> cell g>gg>rowth, differentiation, mitotic cycle, and oncog>gg>enic transformation. This g>gg>ene is preferentially expressed in a variety of hematopoietic cells, and is an early response g>gg>ene in lymphokine stimulated cells. The non-catalytic N-terminus of this PTP can interact with MAP kinases and suppress the MAP kinase activities. This PTP was shown to be involved in the reg>gg>ulation of T cell antig>gg>en g>receptorg> (TCR) sig>gg>naling>gg>, which was thoug>gg>ht to function throug>gg>h dephosphorylating>gg> the molecules related to MAP kinase pathway. Multiple alternatively spliced transcript variants have been found for this g>gg>ene. [provided by RefSeq, Dec 2010]

PTPN6 Gene

protein tyrosine phosphatase, non-g>receptorg> type 6

The protein encoded by this g>gg>ene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be sig>gg>naling>gg> molecules that reg>gg>ulate a variety of cellular processes including>gg> cell g>gg>rowth, differentiation, mitotic cycle, and oncog>gg>enic transformation. N-terminal part of this PTP contains two tandem Src homolog>gg> (SH2) domains, which act as protein phospho-tyrosine binding>gg> domains, and mediate the interaction of this PTP with its substrates. This PTP is expressed primarily in hematopoietic cells, and functions as an important reg>gg>ulator of multiple sig>gg>naling>gg> pathways in hematopoietic cells. This PTP has been shown to interact with, and dephosphorylate a wide spectrum of phospho-proteins involved in hematopoietic cell sig>gg>naling>gg>. Multiple alternatively spliced variants of this g>gg>ene, which encode distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]

PTPN5 Gene

protein tyrosine phosphatase, non-g>receptorg> type 5 (striatum-enriched)

Enables phosphotyrosine residue binding>gg> activity. Predicted to be involved in sig>gg>nal transduction. Predicted to act upstream of or within protein dephosphorylation. Predicted to be located in membrane and nucleoplasm. Predicted to be active in cell junction; cytosol; and plasma membrane. Biomarker of Alzheimer's disease. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PTPN4 Gene

protein tyrosine phosphatase, non-g>receptorg> type 4 (meg>gg>akaryocyte)

The protein encoded by this g>gg>ene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be sig>gg>naling>gg> molecules that reg>gg>ulate a variety of cellular processes including>gg> cell g>gg>rowth, differentiation, mitotic cycle, and oncog>gg>enic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homolog>gg>ous to the band 4.1 superfamily of cytoskeletal-associated proteins. This PTP has been shown to interact with g>gg>lutamate g>receptorg> delta 2 and epsilon subunits, and is thoug>gg>ht to play a role in sig>gg>nalling>gg> downstream of the g>gg>lutamate g>receptorg>s throug>gg>h tyrosine dephosphorylation. [provided by RefSeq, Jul 2008]

g>Gg>RIP1 Gene

g>gg>lutamate g>receptorg> interacting>gg> protein 1

This g>gg>ene encodes a member of the g>gg>lutamate g>receptorg> interacting>gg> protein family. The encoded scaffold protein binds to and mediates the trafficking>gg> and membrane org>gg>anization of a number of transmembrane proteins. Alternatively spliced transcript variants encoding>gg> different isoforms have been described. [provided by RefSeq, May 2010]

g>Gg>RIP2 Gene

g>gg>lutamate g>receptorg> interacting>gg> protein 2

Predicted to enable g>gg>lutamate g>receptorg> binding>gg> activity. Predicted to be involved in several processes, including>gg> neurotransmitter g>receptorg> transport, endosome to postsynaptic membrane; positive reg>gg>ulation of AMPA g>gg>lutamate g>receptorg> clustering>gg>; and positive reg>gg>ulation of excitatory postsynaptic potential. Predicted to act upstream of or within Notch sig>gg>naling>gg> pathway; artery smooth muscle contraction; and positive reg>gg>ulation of blood pressure. Predicted to be located in dendritic shaft. Predicted to be active in g>gg>lutamaterg>gg>ic synapse and postsynaptic density, intracellular component. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

BCAP31 Gene

B-cell g>receptorg>-associated protein 31

This g>gg>ene encodes a member of the B-cell g>receptorg> associated protein 31 superfamily. The encoded protein is a multi-pass transmembrane protein of the endoplasmic reticulum that is involved in the anterog>gg>rade transport of membrane proteins from the endoplasmic reticulum to the g>Gg>olg>gg>i and in caspase 8-mediated apoptosis. Microdeletions in this g>gg>ene are associated with contig>gg>uous ABCD1/DXS1375E deletion syndrome (CADDS), a neonatal disorder. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants. Two related pseudog>gg>enes have been identified on chromosome 16. [provided by RefSeq, Jan 2012]

LOC344593 Gene

protein tyrosine phosphatase, non-g>receptorg> type 11 pseudog>gg>ene

LOC102723333 Gene

retinoic acid g>receptorg> responder protein 2 pseudog>gg>ene

DBI Gene

diazepam binding>gg> inhibitor (g>Gg>ABA g>receptorg> modulator, acyl-CoA binding>gg> protein)

This g>gg>ene encodes diazepam binding>gg> inhibitor, a protein that is reg>gg>ulated by hormones and is involved in lipid metabolism and the displacement of beta-carbolines and benzodiazepines, which modulate sig>gg>nal transduction at type A g>gg>amma-aminobutyric acid g>receptorg>s located in brain synapses. The protein is conserved from yeast to mammals, with the most hig>gg>hly conserved domain consisting>gg> of seven contig>gg>uous residues that constitute the hydrophobic binding>gg> site for medium- and long>gg>-chain acyl-Coenzyme A esters. Diazepam binding>gg> inhibitor is also known to mediate the feedback reg>gg>ulation of pancreatic secretion and the postprandial release of cholecystokinin, in addition to its role as a mediator in corticotropin-dependent adrenal steroidog>gg>enesis. Three pseudog>gg>enes located on chromosomes 6, 8 and 16 have been identified. Multiple transcript variants encoding>gg> different isoforms have been described for this g>gg>ene. [provided by RefSeq, Jul 2008]

LOC100129526 Gene

protein tyrosine phosphatase, g>receptorg> type, D pseudog>gg>ene

TRAF6 Gene

TNF g>receptorg>-associated factor 6, E3 ubiquitin protein lig>gg>ase

The protein encoded by this g>gg>ene is a member of the TNF g>receptorg> associated factor (TRAF) protein family. TRAF proteins are associated with, and mediate sig>gg>nal transduction from, members of the TNF g>receptorg> superfamily. This protein has an amino terminal RINg>Gg> domain which is followed by four zinc-fing>gg>er motifs, a central coiled-coil reg>gg>ion and a hig>gg>hly conserved carboxyl terminal domain, known as the TRAF-C domain and mediates sig>gg>naling>gg> from members of the TNF g>receptorg> superfamily as well as the Toll/IL-1 family. Sig>gg>nals from g>receptorg>s such as CD40, TNFSF11/RANCE and IL-1 have been shown to be mediated by this protein. This protein also interacts with various protein kinases including>gg> IRAK1/IRAK, SRC and PKCzeta, which provides a link between distinct sig>gg>naling>gg> pathways. This protein functions as a sig>gg>nal transducer in the NF-kappaB pathway that activates IkappaB kinase (IKK) in response to proinflammatory cytokines. The interaction of this protein with UBE2N/UBC13, and UBE2V1/UEV1A, which are ubiquitin conjug>gg>ating>gg> enzymes catalyzing>gg> the formation of polyubiquitin chains, has been found to be required for IKK activation by this protein. This protein also interacts with the transforming>gg> g>gg>rowth factor (Tg>Gg>F) beta g>receptorg> complex and is required for Smad-independent activation of the JNK and p38 kinases. The protein encoded by this g>gg>ene is a key molecule in antiviral innate and antig>gg>en-specific immune responses. [provided by RefSeq, Nov 2021]

TRAF7 Gene

TNF g>receptorg>-associated factor 7, E3 ubiquitin protein lig>gg>ase

Tumor necrosis factor (TNF; see MIM 191160) g>receptorg>-associated factors, such as TRAF7, are sig>gg>nal transducers for members of the TNF g>receptorg> superfamily (see MIM 191190). TRAFs are composed of an N-terminal cysteine/histidine-rich reg>gg>ion containing>gg> zinc RINg>Gg> and/or zinc fing>gg>er motifs; a coiled-coil (leucine zipper) motif; and a homolog>gg>ous reg>gg>ion that defines the TRAF family, the TRAF domain, which is involved in self-association and g>receptorg> binding>gg>.[supplied by OMIM, Apr 2004]

ITPRIPL2 Gene

inositol 1,4,5-trisphosphate g>receptorg> interacting>gg> protein-like 2

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ITPRIPL1 Gene

inositol 1,4,5-trisphosphate g>receptorg> interacting>gg> protein-like 1

Enables g>receptorg> lig>gg>and activity. Involved in neg>gg>ative reg>gg>ulation of T cell g>receptorg> sig>gg>naling>gg> pathway. Located in membrane. Is active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

BCAP31P1 Gene

B-cell g>receptorg>-associated protein 31 pseudog>gg>ene 1

g>Gg>ABARAP Gene

g>Gg>ABA(A) g>receptorg>-associated protein

g>Gg>amma-aminobutyric acid A g>receptorg>s [g>Gg>ABA(A) g>receptorg>s] are lig>gg>and-g>gg>ated chloride channels that mediate inhibitory neurotransmission. This g>gg>ene encodes g>Gg>ABA(A) g>receptorg>-associated protein, which is hig>gg>hly positively charg>gg>ed in its N-terminus and shares sequence similarity with lig>gg>ht chain-3 of microtubule-associated proteins 1A and 1B. This protein clusters neurotransmitter g>receptorg>s by mediating>gg> interaction with the cytoskeleton. [provided by RefSeq, Jul 2008]

RTP4 Gene

g>receptorg> (chemosensory) transporter protein 4

Predicted to enable olfactory g>receptorg> binding>gg> activity. Involved in detection of chemical stimulus involved in sensory perception of bitter taste and protein targ>gg>eting>gg> to membrane. Located in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RTP5 Gene

g>receptorg> (chemosensory) transporter protein 5 (putative)

Predicted to enable olfactory g>receptorg> binding>gg> activity. Predicted to be involved in detection of chemical stimulus involved in sensory perception of bitter taste; protein insertion into membrane; and protein targ>gg>eting>gg> to membrane. Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RTP2 Gene

g>receptorg> (chemosensory) transporter protein 2

Enables olfactory g>receptorg> binding>gg> activity. Involved in protein insertion into membrane. Located in cell surface. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RTP3 Gene

g>receptorg> (chemosensory) transporter protein 3

Predicted to enable olfactory g>receptorg> binding>gg> activity. Involved in detection of chemical stimulus involved in sensory perception of bitter taste and protein targ>gg>eting>gg> to membrane. Located in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RTP1 Gene

g>receptorg> (chemosensory) transporter protein 1

Enables olfactory g>receptorg> binding>gg> activity. Involved in protein insertion into membrane. Located in cell surface. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

AIPL1 Gene

aryl hydrocarbon g>receptorg> interacting>gg> protein-like 1

Leber cong>gg>enital amaurosis (LCA) is the most severe inherited retinopathy with the earliest ag>gg>e of onset and accounts for at least 5% of all inherited retinal diseases. Affected individuals are diag>gg>nosed at birth or in the first few months of life with nystag>gg>mus, severely impaired vision or blindness and an abnormal or flat electroretinog>gg>ram. The photog>receptorg>/pineal-expressed g>gg>ene, AIPL1, encoding>gg> aryl-hydrocarbon interacting>gg> protein-like 1, is located within the LCA4 candidate reg>gg>ion. The encoded protein contains three tetratricopeptide motifs, consistent with chaperone or nuclear transport activity. Mutations in this g>gg>ene may cause approximately 20% of recessive LCA. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jan 2014]

NCCRP1 Gene

non-specific cytotoxic cell g>receptorg> protein 1 homolog>gg> (zebrafish)

Predicted to contribute to ubiquitin protein lig>gg>ase activity. Involved in positive reg>gg>ulation of cell population proliferation. Located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

Tg>Gg>FBRAP1 Gene

transforming>gg> g>gg>rowth factor, beta g>receptorg> associated protein 1

This g>gg>ene encodes a protein that binds to transforming>gg> g>gg>rowth factor-beta (Tg>Gg>F-beta) g>receptorg>s and plays a role in Tg>Gg>F-beta sig>gg>naling>gg>. The encoded protein acts as a chaprone in sig>gg>naling>gg> downstream of Tg>Gg>F-beta. It is involved in sig>gg>nal-dependent association with SMAD4. The protein is also a component of mammalian CORVET, a multisubunit tethering>gg> protein complex that is involved in fusion of early endosomes. [provided by RefSeq, Jun 2016]

LOC102725179 Gene

tyrosine-protein phosphatase non-g>receptorg> type 20-like

RAPSN Gene

g>receptorg>-associated protein of the synapse

This g>gg>ene encodes a member of a family of proteins that are g>receptorg> associated proteins of the synapse. The encoded protein contains a conserved cAMP-dependent protein kinase phosphorylation site, and plays a critical role in clustering>gg> and anchoring>gg> nicotinic acetylcholine g>receptorg>s at synaptic sites by linking>gg> the g>receptorg>s to the underlying>gg> postsynaptic cytoskeleton, possibly by direct association with actin or spectrin. Mutations in this g>gg>ene may play a role in postsynaptic cong>gg>enital myasthenic syndromes. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Apr 2011]

LOC391771 Gene

protein tyrosine phosphatase, non-g>receptorg> type 11 pseudog>gg>ene

LDLRAP1 Gene

low density lipoprotein g>receptorg> adaptor protein 1

The protein encoded by this g>gg>ene is a cytosolic protein which contains a phosphotyrosine binding>gg> (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL g>receptorg>. Mutations in this g>gg>ene lead to LDL g>receptorg> malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008]

PTPN2P1 Gene

protein tyrosine phosphatase, non-g>receptorg> type 2 pseudog>gg>ene 1

LOC102724610 Gene

putative vomeronasal g>receptorg>-like protein 4

THRAP3 Gene

thyroid hormone g>receptorg> associated protein 3

Enables nuclear thyroid hormone g>receptorg> binding>gg> activity; phosphoprotein binding>gg> activity; and transcription coactivator activity. Involved in positive reg>gg>ulation of circadian rhythm and reg>gg>ulation of g>gg>ene expression. Acts upstream of or within positive reg>gg>ulation of transcription by RNA polymerase II. Located in exon-exon junction complex and nuclear speck. Part of mediator complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRAP Gene

triiodothyronine g>receptorg> auxiliary protein

TIRAP Gene

toll-interleukin 1 g>receptorg> (TIR) domain containing>gg> adaptor protein

The innate immune system recog>gg>nizes microbial pathog>gg>ens throug>gg>h Toll-like g>receptorg>s (TLRs), which identify pathog>gg>en-associated molecular patterns. Different TLRs recog>gg>nize different pathog>gg>en-associated molecular patterns and all TLRs have a Toll-interleukin 1 g>receptorg> (TIR) domain, which is responsible for sig>gg>nal transduction. The protein encoded by this g>gg>ene is a TIR adaptor protein involved in the TLR4 sig>gg>naling>gg> pathway of the immune system. It activates NF-kappa-B, MAPK1, MAPK3 and JNK, which then results in cytokine secretion and the inflammatory response. Alternative splicing>gg> of this g>gg>ene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]

LOC100996284 Gene

Fc g>receptorg>-like protein 2

BMPR1APS1 Gene

bone morphog>gg>enetic protein g>receptorg>, type IA pseudog>gg>ene 1

BMPR1APS2 Gene

bone morphog>gg>enetic protein g>receptorg>, type IA pseudog>gg>ene 2

BZRAP1 Gene

benzodiazepine g>receptorg> (peripheral) associated protein 1

Enables benzodiazepine g>receptorg> binding>gg> activity. Involved in reg>gg>ulation of neurotransmitter secretion. Located in mitochondrion. Implicated in dystonia 22, adult-onset and dystonia 22, juvenile-onset. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100421632 Gene

thyroid hormone g>receptorg> associated protein 3 pseudog>gg>ene

DBIP2 Gene

diazepam binding>gg> inhibitor (g>Gg>ABA g>receptorg> modulator, acyl-CoA binding>gg> protein) pseudog>gg>ene 2

DBIP3 Gene

diazepam binding>gg> inhibitor (g>Gg>ABA g>receptorg> modulator, acyl-CoA binding>gg> protein) pseudog>gg>ene 3

DBIP1 Gene

diazepam binding>gg> inhibitor (g>Gg>ABA g>receptorg> modulator, acyl-CoA binding>gg> protein) pseudog>gg>ene 1

KDELR2 Gene

KDEL (Lys-Asp-g>Gg>lu-Leu) endoplasmic reticulum protein retention g>receptorg> 2

Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-g>Gg>olg>gg>i, or a pre-g>Gg>olg>gg>i compartment. Sorting>gg> of these proteins is dependent on a C-terminal tetrapeptide sig>gg>nal, usually lys-asp-g>gg>lu-leu (KDEL) in animal cells, and his-asp-g>gg>lu-leu (HDEL) in S. cerevisiae. This process is mediated by a g>receptorg> that recog>gg>nizes, and binds the tetrapeptide-containing>gg> protein, and returns it to the ER. In yeast, the sorting>gg> g>receptorg> encoded by a sing>gg>le g>gg>ene, ERD2, is a seven-transmembrane protein. Unlike yeast, several human homolog>gg>s of the ERD2 g>gg>ene, constituting>gg> the KDEL g>receptorg> g>gg>ene family, have been described. KDELR2 was the second member of the family to be identified, and it encodes a protein which is 83% identical to the KDELR1 g>gg>ene product. Alternative splicing>gg> results in multiple transcript variants encoding>gg> distinct isoforms. [provided by RefSeq, Jul 2008]

KDELR3 Gene

KDEL (Lys-Asp-g>Gg>lu-Leu) endoplasmic reticulum protein retention g>receptorg> 3

This g>gg>ene encodes a member of the KDEL endoplasmic reticulum protein retention g>receptorg> family. Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-g>Gg>olg>gg>i, or a pre-g>Gg>olg>gg>i compartment. Sorting>gg> of these proteins is dependent on a C-terminal tetrapeptide sig>gg>nal, usually lys-asp-g>gg>lu-leu (KDEL) in animal cells, and his-asp-g>gg>lu-leu (HDEL) in S. cerevisiae. This process is mediated by a g>receptorg> that recog>gg>nizes, and binds the tetrapeptide-containing>gg> protein, and returns it to the ER. In yeast, the sorting>gg> g>receptorg> encoded by a sing>gg>le g>gg>ene, ERD2, is a seven-transmembrane protein. Unlike yeast, several human homolog>gg>s of the ERD2 g>gg>ene, constituting>gg> the KDEL g>receptorg> g>gg>ene family, have been described. KDELR3 was the third member of the family to be identified. Alternate splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2013]

KDELR1 Gene

KDEL (Lys-Asp-g>Gg>lu-Leu) endoplasmic reticulum protein retention g>receptorg> 1

Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-g>Gg>olg>gg>i, or a pre-g>Gg>olg>gg>i compartment. Sorting>gg> of these proteins is dependent on a C-terminal tetrapeptide sig>gg>nal, usually lys-asp-g>gg>lu-leu (KDEL) in animal cells, and his-asp-g>gg>lu-leu (HDEL) in S. cerevisiae. This process is mediated by a g>receptorg> that recog>gg>nizes, and binds the tetrapeptide-containing>gg> protein, and returns it to the ER. In yeast, the sorting>gg> g>receptorg> encoded by a sing>gg>le g>gg>ene, ERD2, which is a seven-transmembrane protein. Unlike yeast, several human homolog>gg>s of the ERD2 g>gg>ene, constituting>gg> the KDEL g>receptorg> g>gg>ene family, have been described. The protein encoded by this g>gg>ene was the first member of the family to be identified, and it encodes a protein structurally and functionally similar to the yeast ERD2 g>gg>ene product. [provided by RefSeq, Jul 2008]

Ag>Gg>TRAP Gene

ang>gg>iotensin II g>receptorg>-associated protein

This g>gg>ene encodes a transmembrane protein localized to the plasma membrane and perinuclear vesicular structures. The g>gg>ene product interacts with the ang>gg>iotensin II type I g>receptorg> and neg>gg>atively reg>gg>ulates ang>gg>iotensin II sig>gg>naling>gg>. Alternative splicing>gg> of this g>gg>ene g>gg>enerates multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Jul 2008]

LOC100287856 Gene

cornichon family AMPA g>receptorg> auxiliary protein 4 pseudog>gg>ene

TRAP1 Gene

TNF g>receptorg>-associated protein 1

This g>gg>ene encodes a mitochondrial chaperone protein that is member of the heat shock protein 90 (HSP90) family. The encoded protein has ATPase activity and interacts with tumor necrosis factor type I. This protein may function in reg>gg>ulating>gg> cellular stress responses. Alternate splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jan 2013]

AIP Gene

aryl hydrocarbon g>receptorg> interacting>gg> protein

The protein encoded by this g>gg>ene is a g>receptorg> for aryl hydrocarbons and a lig>gg>and-activated transcription factor. The encoded protein is found in the cytoplasm as part of a multiprotein complex, but upon binding>gg> of lig>gg>and is transported to the nucleus. This protein can reg>gg>ulate the expression of many xenobiotic metabolizing>gg> enzymes. Also, the encoded protein can bind specifically to and inhibit the activity of hepatitis B virus. Three transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Dec 2014]

LOC105376731 Gene

taste g>receptorg> cell protein 1-like

PTPRVP Gene

protein tyrosine phosphatase, g>receptorg> type, V, pseudog>gg>ene

Predicted to enable protein tyrosine phosphatase activity. Predicted to act upstream of or within several processes, including>gg> DNA damag>gg>e response, sig>gg>nal transduction by p53 class mediator resulting>gg> in cell cycle arrest; neg>gg>ative reg>gg>ulation of insulin secretion; and type B pancreatic cell proliferation. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

BCAP29 Gene

B-cell g>receptorg>-associated protein 29

Involved in osteoblast differentiation. Located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PTPRR Gene

protein tyrosine phosphatase, g>receptorg> type, R

The protein encoded by this g>gg>ene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be sig>gg>naling>gg> molecules that reg>gg>ulate a variety of cellular processes including>gg> cell g>gg>rowth, differentiation, mitotic cycle, and oncog>gg>enic transformation. This PTP possesses an extracellular reg>gg>ion, a sing>gg>le transmembrane reg>gg>ion, and a sing>gg>le intracellular catalytic domain, and thus represents a g>receptorg>-type PTP. Silencing>gg> of this g>gg>ene has been associated with colorectal cancer. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. This g>gg>ene shares a symbol (PTPRQ) with another g>gg>ene, protein tyrosine phosphatase, g>receptorg> type, Q (g>Gg>eneID 374462), which is also located on chromosome 12. [provided by RefSeq, May 2011]

IL1RAPL1 Gene

interleukin 1 g>receptorg> accessory protein-like 1

The protein encoded by this g>gg>ene is a member of the interleukin 1 g>receptorg> family and is similar to the interleukin 1 accessory proteins. This protein has an N-terminal sig>gg>nal peptide, three extracellular immunog>gg>lobulin Ig>gg>-like domains, a transmembrane domain, an intracellular Toll/IL-1R domain, and a long>gg> C-terminal tail which interacts with multiple sig>gg>nalling>gg> molecules. This g>gg>ene is located at a reg>gg>ion on chromosome X that is associated with a non-syndromic form of X-linked intellectual disability. Deletions and mutations in this g>gg>ene were found in patients with intellectual disability. This g>gg>ene is expressed at a hig>gg>h level in post-natal brain structures involved in the hippocampal memory system, which sug>gg>g>gg>ests a specialized role in the physiolog>gg>ical processes underlying>gg> memory and learning>gg> abilities, and plays a role in synapse formation and stabilization. [provided by RefSeq, Jul 2017]

IL1RAPL2 Gene

interleukin 1 g>receptorg> accessory protein-like 2

The protein encoded by this g>gg>ene is a member of the interleukin 1 g>receptorg> family. This protein is similar to the interleukin 1 accessory proteins, and is most closely related to interleukin 1 g>receptorg> accessory protein-like 1 (IL1RAPL1). This g>gg>ene and IL1RAPL1 are located at a reg>gg>ion on chromosome X that is associated with X-linked non-syndromic cog>gg>nitive disability. [provided by RefSeq, Jul 2008]

LOC100420641 Gene

TNF g>receptorg>-associated factor 7, E3 ubiquitin protein lig>gg>ase pseudog>gg>ene

PTPRU Gene

protein tyrosine phosphatase, g>receptorg> type, U

The protein encoded by this g>gg>ene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be sig>gg>naling>gg> molecules that reg>gg>ulate a variety of cellular processes including>gg> cell g>gg>rowth, differentiation, mitotic cycle, and oncog>gg>enic transformation. This PTP possesses an extracellular reg>gg>ion, a sing>gg>le transmembrane reg>gg>ion, and two tandem intracellular catalytic domains, and thus represents a g>receptorg>-type PTP. The extracellular reg>gg>ion contains a meprin-A5 antig>gg>en-PTP (MAM) domain, Ig>gg>-like and fibronectin type III-like repeats. This PTP was thoug>gg>ht to play roles in cell-cell recog>gg>nition and adhesion. Studies of the similar g>gg>ene in mice sug>gg>g>gg>ested the role of this PTP in early neural development. The expression of this g>gg>ene was reported to be reg>gg>ulated by phorbol myristate acetate (PMA) or calcium ionophore in Jurkat T lymphoma cells. Alternatively spliced transcript variants have been reported. [provided by RefSeq, Aug>gg> 2010]

PTPRT Gene

protein tyrosine phosphatase, g>receptorg> type, T

The protein encoded by this g>gg>ene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be sig>gg>naling>gg> molecules that reg>gg>ulate a variety of cellular processes including>gg> cell g>gg>rowth, differentiation, mitotic cycle, and oncog>gg>enic transformation. This PTP possesses an extracellular reg>gg>ion, a sing>gg>le transmembrane reg>gg>ion, and two tandem intracellular catalytic domains, and thus represents a g>receptorg>-type PTP. The extracellular reg>gg>ion contains a meprin-A5 antig>gg>en-PTP (MAM) domain, Ig>gg>-like and fibronectin type III-like repeats. The protein domain structure and the expression pattern of the mouse counterpart of this PTP sug>gg>g>gg>est its roles in both sig>gg>nal transduction and cellular adhesion in the central nervous system. Two alternatively spliced transcript variants of this g>gg>ene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]

PTPRS Gene

protein tyrosine phosphatase, g>receptorg> type, S

The protein encoded by this g>gg>ene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be sig>gg>naling>gg> molecules that reg>gg>ulate a variety of cellular processes including>gg> cell g>gg>rowth, differentiation, mitotic cycle, and oncog>gg>enic transformation. This PTP contains an extracellular reg>gg>ion, a sing>gg>le transmembrane seg>gg>ment and two tandem intracytoplasmic catalytic domains, and thus represents a g>receptorg>-type PTP. The extracellular reg>gg>ion of this protein is composed of multiple Ig>gg>-like and fibronectin type III-like domains. Studies of the similar g>gg>ene in mice sug>gg>g>gg>ested that this PTP may be involved in cell-cell interaction, primary axonog>gg>enesis, and axon g>gg>uidance during>gg> embryog>gg>enesis. This PTP has been also implicated in the molecular control of adult nerve repair. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]

PTPRQ Gene

protein tyrosine phosphatase, g>receptorg> type, Q

This locus encodes a member of the type III g>receptorg>-like protein-tyrosine phosphatase family. The encoded protein catalyzes the dephosphorylation of phosphotyrosine and phosphatidylinositol and plays roles in cellular proliferation and differentiation. Mutations at this locus have been linked to autosomal recessive deafness. [provided by RefSeq, Mar 2014]

PTPRg>Gg> Gene

protein tyrosine phosphatase, g>receptorg> type, g>Gg>

The protein encoded by this g>gg>ene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be sig>gg>naling>gg> molecules that reg>gg>ulate a variety of cellular processes including>gg> cell g>gg>rowth, differentiation, mitotic cycle, and oncog>gg>enic transformation. This PTP possesses an extracellular reg>gg>ion, a sing>gg>le transmembrane reg>gg>ion, and two tandem intracytoplasmic catalytic domains, and thus represents a g>receptorg>-type PTP. The extracellular reg>gg>ion of this PTP contains a carbonic anhydrase-like (CAH) domain, which is also found in the extracellular reg>gg>ion of PTPRBETA/ZETA. This g>gg>ene is located in a chromosomal reg>gg>ion that is frequently deleted in renal cell carcinoma and lung>gg> carcinoma, thus is thoug>gg>ht to be a candidate tumor suppressor g>gg>ene. [provided by RefSeq, Jul 2008]

PTPRF Gene

protein tyrosine phosphatase, g>receptorg> type, F

The protein encoded by this g>gg>ene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be sig>gg>naling>gg> molecules that reg>gg>ulate a variety of cellular processes including>gg> cell g>gg>rowth, differentiation, mitotic cycle, and oncog>gg>enic transformation. This PTP possesses an extracellular reg>gg>ion, a sing>gg>le transmembrane reg>gg>ion, and two tandem intracytoplasmic catalytic domains, and thus represents a g>receptorg>-type PTP. The extracellular reg>gg>ion contains three Ig>gg>-like domains, and nine non-Ig>gg> like domains similar to that of neural-cell adhesion molecule. This PTP was shown to function in the reg>gg>ulation of epithelial cell-cell contacts at adherents junctions, as well as in the control of beta-catenin sig>gg>naling>gg>. An increased expression level of this protein was found in the insulin-responsive tissue of obese, insulin-resistant individuals, and may contribute to the pathog>gg>enesis of insulin resistance. Two alternatively spliced transcript variants of this g>gg>ene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]

PTPRE Gene

protein tyrosine phosphatase, g>receptorg> type, E

The protein encoded by this g>gg>ene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be sig>gg>naling>gg> molecules that reg>gg>ulate a variety of cellular processes including>gg> cell g>gg>rowth, differentiation, mitotic cycle, and oncog>gg>enic transformation. Several alternatively spliced transcript variants of this g>gg>ene have been reported, at least two of which encode a g>receptorg>-type PTP that possesses a short extracellular domain, a sing>gg>le transmembrane reg>gg>ion, and two tandem intracytoplasmic catalytic domains; another one encodes a PTP that contains a distinct hydrophilic N-terminus, and thus represents a nong>receptorg>-type isoform of this PTP. Studies of the similar g>gg>ene in mice sug>gg>g>gg>ested the reg>gg>ulatory roles of this PTP in RAS related sig>gg>nal transduction pathways, cytokine-induced SATA sig>gg>naling>gg>, as well as the activation of voltag>gg>e-g>gg>ated K+ channels. [provided by RefSeq, Oct 2015]

PTPRD Gene

protein tyrosine phosphatase, g>receptorg> type, D

The protein encoded by this g>gg>ene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be sig>gg>naling>gg> molecules that reg>gg>ulate a variety of cellular processes including>gg> cell g>gg>rowth, differentiation, mitotic cycle, and oncog>gg>enic transformation. This PTP contains an extracellular reg>gg>ion, a sing>gg>le transmembrane seg>gg>ment and two tandem intracytoplasmic catalytic domains, and thus represents a g>receptorg>-type PTP. The extracellular reg>gg>ion of this protein is composed of three Ig>gg>-like and eig>gg>ht fibronectin type III-like domains. Studies of the similar g>gg>enes in chicken and fly sug>gg>g>gg>est the role of this PTP is in promoting>gg> neurite g>gg>rowth, and reg>gg>ulating>gg> neurons axon g>gg>uidance. Multiple alternatively spliced transcript variants of this g>gg>ene have been reported. A related pseudog>gg>ene has been identified on chromosome 5. [provided by RefSeq, Jan 2010]

PTPRC Gene

protein tyrosine phosphatase, g>receptorg> type, C

The protein encoded by this g>gg>ene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be sig>gg>naling>gg> molecules that reg>gg>ulate a variety of cellular processes including>gg> cell g>gg>rowth, differentiation, mitosis, and oncog>gg>enic transformation. This PTP contains an extracellular domain, a sing>gg>le transmembrane seg>gg>ment and two tandem intracytoplasmic catalytic domains, and thus is classified as a g>receptorg> type PTP. This PTP has been shown to be an essential reg>gg>ulator of T- and B-cell antig>gg>en g>receptorg> sig>gg>naling>gg>. It functions throug>gg>h either direct interaction with components of the antig>gg>en g>receptorg> complexes, or by activating>gg> various Src family kinases required for the antig>gg>en g>receptorg> sig>gg>naling>gg>. This PTP also suppresses JAK kinases, and thus functions as a reg>gg>ulator of cytokine g>receptorg> sig>gg>naling>gg>. Alternatively spliced transcripts variants of this g>gg>ene, which encode distinct isoforms, have been reported. [provided by RefSeq, Jun 2012]

PTPRB Gene

protein tyrosine phosphatase, g>receptorg> type, B

The protein encoded by this g>gg>ene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be sig>gg>naling>gg> molecules that reg>gg>ulate a variety of cellular processes including>gg> cell g>gg>rowth, differentiation, mitotic cycle, and oncog>gg>enic transformation. This PTP contains an extracellular domain, a sing>gg>le transmembrane seg>gg>ment and one intracytoplasmic catalytic domain, thus belong>gg>s to g>receptorg> type PTP. The extracellular reg>gg>ion of this PTP is composed of multiple fibronectin type_III repeats, which was shown to interact with neuronal g>receptorg> and cell adhesion molecules, such as contactin and tenascin C. This protein was also found to interact with sodium channels, and thus may reg>gg>ulate sodium channels by altering>gg> tyrosine phosphorylation status. The functions of the interaction partners of this protein implicate the roles of this PTP in cell adhesion, neurite g>gg>rowth, and neuronal differentiation. Alternate transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, May 2011]

PTPRA Gene

protein tyrosine phosphatase, g>receptorg> type, A

The protein encoded by this g>gg>ene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be sig>gg>naling>gg> molecules that reg>gg>ulate a variety of cellular processes including>gg> cell g>gg>rowth, differentiation, mitotic cycle, and oncog>gg>enic transformation. This PTP contains an extracellular domain, a sing>gg>le transmembrane seg>gg>ment and two tandem intracytoplasmic catalytic domains, and thus represents a g>receptorg>-type PTP. This PTP has been shown to dephosphorylate and activate Src family tyrosine kinases, and is implicated in the reg>gg>ulation of integ>gg>rin sig>gg>naling>gg>, cell adhesion and proliferation. Three alternatively spliced variants of this g>gg>ene, which encode two distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]

PTPRO Gene

protein tyrosine phosphatase, g>receptorg> type, O

This g>gg>ene encodes a member of the R3 subtype family of g>receptorg>-type protein tyrosine phosphatases. These proteins are localized to the apical surface of polarized cells and may have tissue-specific functions throug>gg>h activation of Src family kinases. This g>gg>ene contains two distinct promoters, and alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed. The encoded proteins may have multiple isoform-specific and tissue-specific functions, including>gg> the reg>gg>ulation of osteoclast production and activity, inhibition of cell proliferation and facilitation of apoptosis. This g>gg>ene is a candidate tumor suppressor, and decreased expression of this g>gg>ene has been observed in several types of cancer. [provided by RefSeq, May 2011]

PTPRN Gene

protein tyrosine phosphatase, g>receptorg> type, N

The protein encoded by this g>gg>ene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be sig>gg>naling>gg> molecules that reg>gg>ulate a variety of cellular processes including>gg> cell g>gg>rowth, differentiation, mitotic cycle, and oncog>gg>enic transformation. This PTP possesses an extracellular reg>gg>ion, a sing>gg>le transmembrane reg>gg>ion, and a sing>gg>le catalytic domain, and thus represents a g>receptorg>-type PTP. This PTP was found to be an autoantig>gg>en that is reactive with insulin-dependent diabetes mellitus (IDDM) patient sera, and thus may be a potential targ>gg>et of autoimmunity in diabetes mellitus. Alternate splicing>gg> results in multiple transcript variants.[provided by RefSeq, Dec 2010]

PTPRM Gene

protein tyrosine phosphatase, g>receptorg> type, M

The protein encoded by this g>gg>ene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be sig>gg>naling>gg> molecules that reg>gg>ulate a variety of cellular processes including>gg> cell g>gg>rowth, differentiation, mitotic cycle, and oncog>gg>enic transformation. This PTP possesses an extracellular reg>gg>ion, a sing>gg>le transmembrane reg>gg>ion, and two tandem catalytic domains, and thus represents a g>receptorg>-type PTP. The extracellular reg>gg>ion contains a meprin-A5 antig>gg>en-PTP mu (MAM) domain, an Ig>gg>-like domain and four fibronectin type III-like repeats. This PTP has been shown to mediate cell-cell ag>gg>g>gg>reg>gg>ation throug>gg>h the interaction with another molecule of this PTP on an adjacent cell. This PTP can interact with scaffolding>gg> protein RACK1/g>Gg>NB2L1, which may be necessary for the downstream sig>gg>naling>gg> in response to cell-cell adhesion. Alternative splicing>gg> results in multiple transcripts encoding>gg> distinct isoforms. [provided by RefSeq, Jul 2008]

PTPRK Gene

protein tyrosine phosphatase, g>receptorg> type, K

The protein encoded by this g>gg>ene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be sig>gg>naling>gg> molecules that reg>gg>ulate a variety of cellular processes including>gg> cell g>gg>rowth, differentiation, mitotic cycle, and oncog>gg>enic transformation. This PTP possesses an extracellular reg>gg>ion, a sing>gg>le transmembrane reg>gg>ion, and two tandem catalytic domains, and thus represents a g>receptorg>-type PTP. The extracellular reg>gg>ion contains a meprin-A5 antig>gg>en-PTP mu (MAM) domain, an Ig>gg>-like domain and four fibronectin type III-like repeats. This PTP was shown to mediate homophilic intercellular interaction, possibly throug>gg>h the interaction with beta- and g>gg>amma-catenin at adherens junctions. Expression of this g>gg>ene was found to be stimulated by Tg>Gg>F-beta 1, which may be important for the inhibition of keratinocyte proliferation. [provided by RefSeq, Jul 2008]

PTPRJ Gene

protein tyrosine phosphatase, g>receptorg> type, J

The protein encoded by this g>gg>ene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be sig>gg>naling>gg> molecules that reg>gg>ulate a variety of cellular processes, including>gg> cell g>gg>rowth, differentiation, mitotic cycle, and oncog>gg>enic transformation. This PTP possesses an extracellular reg>gg>ion containing>gg> five fibronectin type III repeats, a sing>gg>le transmembrane reg>gg>ion, and a sing>gg>le intracytoplasmic catalytic domain, and thus represents a g>receptorg>-type PTP. This protein is present in all hematopoietic lineag>gg>es, and was shown to neg>gg>atively reg>gg>ulate T cell g>receptorg> sig>gg>naling>gg> possibly throug>gg>h interfering>gg> with the phosphorylation of Phospholipase C g>Gg>amma 1 and Linker for Activation of T Cells. This protein can also dephosphorylate the PDg>Gg>F beta g>receptorg>, and may be involved in UV-induced sig>gg>nal transduction. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

PTPRH Gene

protein tyrosine phosphatase, g>receptorg> type, H

The protein encoded by this g>gg>ene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be sig>gg>naling>gg> molecules that reg>gg>ulate a variety of cellular processes including>gg> cell g>gg>rowth, differentiation, mitotic cycle, and oncog>gg>enic transformation. This PTP possesses an extracellular reg>gg>ion, a sing>gg>le transmembrane reg>gg>ion, and a sing>gg>le intracytoplasmic catalytic domain, and thus represents a g>receptorg>-type PTP. The extracellular reg>gg>ion contains eig>gg>ht fibronectin type III-like repeats and multiple N-g>gg>lycosylation sites. The g>gg>ene was shown to be expressed primarily in brain and liver, and at a lower level in heart and stomach. It was also found to be expressed in several cancer cell lines, but not in the corresponding>gg> normal tissues. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jun 2009]

LOC105371179 Gene

proline-rich g>receptorg>-like protein kinase PERK2

g>Gg>RB2 Gene

g>gg>rowth factor g>receptorg>-bound protein 2

The protein encoded by this g>gg>ene binds the epidermal g>gg>rowth factor g>receptorg> and contains one SH2 domain and two SH3 domains. Its two SH3 domains direct complex formation with proline-rich reg>gg>ions of other proteins, and its SH2 domain binds tyrosine phosphorylated sequences. This g>gg>ene is similar to the Sem5 g>gg>ene of C.eleg>gg>ans, which is involved in the sig>gg>nal transduction pathway. Two alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

g>Gg>RB7 Gene

g>gg>rowth factor g>receptorg>-bound protein 7

The product of this g>gg>ene belong>gg>s to a small family of adapter proteins that are known to interact with a number of g>receptorg> tyrosine kinases and sig>gg>naling>gg> molecules. This g>gg>ene encodes a g>gg>rowth factor g>receptorg>-binding>gg> protein that interacts with epidermal g>gg>rowth factor g>receptorg> (Eg>Gg>FR) and ephrin g>receptorg>s. The protein plays a role in the integ>gg>rin sig>gg>naling>gg> pathway and cell mig>gg>ration by binding>gg> with focal adhesion kinase (FAK). Several transcript variants encoding>gg> two different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jun 2011]

g>Gg>ABARAPL1 Gene

g>Gg>ABA(A) g>receptorg>-associated protein like 1

Enables Tat protein binding>gg> activity; phospholipid binding>gg> activity; and ubiquitin protein lig>gg>ase binding>gg> activity. Predicted to be involved in cellular response to nitrog>gg>en starvation and macroautophag>gg>y. Located in autophag>gg>osome and mitochondrion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>ABARAPL2 Gene

g>Gg>ABA(A) g>receptorg>-associated protein-like 2

Enables phosphatidylethanolamine binding>gg> activity and ubiquitin protein lig>gg>ase binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of proteasomal protein catabolic process and protein localization to endoplasmic reticulum. Located in g>Gg>olg>gg>i membrane and autophag>gg>osome membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PTPRN2 Gene

protein tyrosine phosphatase, g>receptorg> type, N polypeptide 2

This g>gg>ene encodes a protein with sequence similarity to g>receptorg>-like protein tyrosine phosphatases. However, tyrosine phosphatase activity has not been experimentally validated for this protein. Studies of the rat ortholog>gg> sug>gg>g>gg>est that the encoded protein may instead function as a phosphatidylinositol phosphatase with the ability to dephosphorylate phosphatidylinositol 3-phosphate and phosphatidylinositol 4,5-diphosphate, and this function may be involved in the reg>gg>ulation of insulin secretion. This protein has been identified as an autoantig>gg>en in insulin-dependent diabetes mellitus. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Feb 2015]

SCART1 Gene

scaveng>gg>er g>receptorg> protein family member

Predicted to be involved in T cell mediated immunity. Located in brush border and cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SRPR Gene

sig>gg>nal recog>gg>nition particle g>receptorg> (docking>gg> protein)

The g>gg>ene encodes a subunit of the endoplasmic reticulum sig>gg>nal recog>gg>nition particle g>receptorg> that, in conjunction with the sig>gg>nal recog>gg>nition particle, is involved in the targ>gg>eting>gg> and translocation of sig>gg>nal sequence tag>gg>g>gg>ed secretory and membrane proteins across the endoplasmic reticulum. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Apr 2010]

PTPN20CP Gene

protein tyrosine phosphatase, non-g>receptorg> type 20C, pseudog>gg>ene

LOC105375252 Gene

serine-threonine kinase g>receptorg>-associated protein pseudog>gg>ene

ITPRIP Gene

inositol 1,4,5-trisphosphate g>receptorg> interacting>gg> protein

This g>gg>ene encodes a membrane-associated protein that binds the inositol 1,4,5-trisphosphate g>receptorg> (ITPR). The encoded protein enhances the sensitivity of ITPR to intracellular calcium sig>gg>naling>gg>. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Dec 2012]

LOC100420878 Gene

g>Gg>ABA(A) g>receptorg>-associated protein pseudog>gg>ene

LOC344382 Gene

serine/threonine kinase g>receptorg> associated protein pseudog>gg>ene

BCAP31P2 Gene

B-cell g>receptorg>-associated protein 31 pseudog>gg>ene 2

BMPR2 Gene

bone morphog>gg>enetic protein g>receptorg>, type II (serine/threonine kinase)

This g>gg>ene encodes a member of the bone morphog>gg>enetic protein (BMP) g>receptorg> family of transmembrane serine/threonine kinases. The lig>gg>ands of this g>receptorg> are members of the Tg>Gg>F-beta superfamily. BMPs are involved in endochondral bone formation and embryog>gg>enesis. These proteins transduce their sig>gg>nals throug>gg>h the formation of heteromeric complexes of two different types of serine (threonine) kinase g>receptorg>s: type I g>receptorg>s of about 50-55 kD and type II g>receptorg>s of about 70-80 kD. Mutations in this g>gg>ene have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. [provided by RefSeq, May 2020]

MRAP2 Gene

melanocortin 2 g>receptorg> accessory protein 2

This g>gg>ene encodes a protein that modulates melanocortin g>receptorg> sig>gg>naling>gg>. The encoded protein has been shown to interact with all known melanocortin g>receptorg>s and may reg>gg>ulate both g>receptorg> trafficking>gg> and activation in response to lig>gg>ands. Mice lacking>gg> a functional copy of this g>gg>ene exhibit severe obesity and a mutation in this g>gg>ene may be associated with severe obesity in human patients. [provided by RefSeq, Oct 2016]

LOC100421822 Gene

protein tyrosine phosphatase, non-g>receptorg> type 11 pseudog>gg>ene

CNIH1 Gene

cornichon family AMPA g>receptorg> auxiliary protein 1

Predicted to enable sig>gg>naling>gg> g>receptorg> binding>gg> activity. Predicted to be involved in immune response and sig>gg>nal transduction. Predicted to be located in ER to g>Gg>olg>gg>i transport vesicle membrane; endoplasmic reticulum membrane; and endoplasmic reticulum-g>Gg>olg>gg>i intermediate compartment membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CNIH3 Gene

cornichon family AMPA g>receptorg> auxiliary protein 3

Predicted to enable channel reg>gg>ulator activity and sig>gg>naling>gg> g>receptorg> binding>gg> activity. Involved in reg>gg>ulation of AMPA g>receptorg> activity. Predicted to be located in dendritic shaft and postsynaptic membrane. Predicted to be part of AMPA g>gg>lutamate g>receptorg> complex. Predicted to be active in dendrite and g>gg>lutamaterg>gg>ic synapse. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CNIH2 Gene

cornichon family AMPA g>receptorg> auxiliary protein 2

The protein encoded by this g>gg>ene is an auxiliary subunit of the ionotropic g>gg>lutamate g>receptorg> of the AMPA subtype. AMPA g>receptorg>s mediate fast synaptic neurotransmission in the central nervous system. This protein has been reported to interact with the Type I AMPA g>receptorg> reg>gg>ulatory protein isoform g>gg>amma-8 to control assembly of hippocampal AMPA g>receptorg> complexes, thereby modulating>gg> g>receptorg> g>gg>ating>gg> and pharmacolog>gg>y. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Aug>gg> 2012]

CNIH4 Gene

cornichon family AMPA g>receptorg> auxiliary protein 4

Enables CCR5 chemokine g>receptorg> binding>gg> activity. Involved in endoplasmic reticulum to g>Gg>olg>gg>i vesicle-mediated transport. Located in endoplasmic reticulum and endoplasmic reticulum-g>Gg>olg>gg>i intermediate compartment. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC102724064 Gene

proline-rich g>receptorg>-like protein kinase PERK13

BMPR1A Gene

bone morphog>gg>enetic protein g>receptorg>, type IA

The bone morphog>gg>enetic protein (BMP) g>receptorg>s are a family of transmembrane serine/threonine kinases that include the type I g>receptorg>s BMPR1A and BMPR1B and the type II g>receptorg> BMPR2. These g>receptorg>s are also closely related to the activin g>receptorg>s, ACVR1 and ACVR2. The lig>gg>ands of these g>receptorg>s are members of the Tg>Gg>F-beta superfamily. Tg>Gg>F-betas and activins transduce their sig>gg>nals throug>gg>h the formation of heteromeric complexes with 2 different types of serine (threonine) kinase g>receptorg>s: type I g>receptorg>s of about 50-55 kD and type II g>receptorg>s of about 70-80 kD. Type II g>receptorg>s bind lig>gg>ands in the absence of type I g>receptorg>s, but they require their respective type I g>receptorg>s for sig>gg>naling>gg>, whereas type I g>receptorg>s require their respective type II g>receptorg>s for lig>gg>and binding>gg>. [provided by RefSeq, Jul 2008]

BMPR1B Gene

bone morphog>gg>enetic protein g>receptorg>, type IB

This g>gg>ene encodes a member of the bone morphog>gg>enetic protein (BMP) g>receptorg> family of transmembrane serine/threonine kinases. The lig>gg>ands of this g>receptorg> are BMPs, which are members of the Tg>Gg>F-beta superfamily. BMPs are involved in endochondral bone formation and embryog>gg>enesis. These proteins transduce their sig>gg>nals throug>gg>h the formation of heteromeric complexes of 2 different types of serine (threonine) kinase g>receptorg>s: type I g>receptorg>s of about 50-55 kD and type II g>receptorg>s of about 70-80 kD. Type II g>receptorg>s bind lig>gg>ands in the absence of type I g>receptorg>s, but they require their respective type I g>receptorg>s for sig>gg>naling>gg>, whereas type I g>receptorg>s require their respective type II g>receptorg>s for lig>gg>and binding>gg>. Mutations in this g>gg>ene have been associated with primary pulmonary hypertension. Several transcript variants encoding>gg> two different isoforms have been found for this g>gg>ene. [provided by RefSeq, Feb 2012]

NSD3 Gene

nuclear g>receptorg> binding>gg> SET domain protein 3

This g>gg>ene is related to the Wolf-Hirschhorn syndrome candidate-1 g>gg>ene and encodes a protein with PWWP (proline-tryptophan-tryptophan-proline) domains. This protein methylates histone H3 at lysine residues 4 and 27, which represses g>gg>ene transcription. Two alternatively spliced variants have been described. [provided by RefSeq, May 2015]

NSD2 Gene

nuclear g>receptorg> binding>gg> SET domain protein 2

This g>gg>ene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMg>Gg> box, a SET domain, and a PHD-type zinc fing>gg>er. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizyg>gg>ous deletion of the distal short arm of chromosome 4. This g>gg>ene maps to the 165 kb WHS critical reg>gg>ion and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants encoding>gg> different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008]

SRARP Gene

steroid g>receptorg> associated and reg>gg>ulated protein

Enables nuclear estrog>gg>en g>receptorg> binding>gg> activity. Involved in positive reg>gg>ulation of intracellular estrog>gg>en g>receptorg> sig>gg>naling>gg> pathway. Located in cytoplasm and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

DORIP1 Gene

dopamine g>receptorg> interacting>gg> protein 1

Predicted to act upstream of or within with a positive effect on NMDA selective g>gg>lutamate g>receptorg> sig>gg>naling>gg> pathway and cAMP-mediated sig>gg>naling>gg>. Predicted to act upstream of or within several processes, including>gg> g>Gg> g>protein-coupledg> dopamine g>receptorg> sig>gg>naling>gg> pathway; memory; and neurog>gg>enesis. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MTVR2 Gene

mouse mammary tumor virus g>receptorg> homolog>gg> 2

ITg>Gg>A2 Gene

integ>gg>rin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 g>receptorg>)

This g>gg>ene encodes the alpha subunit of a transmembrane g>receptorg> for collag>gg>ens and related proteins. The encoded protein forms a heterodimer with a beta subunit and mediates the adhesion of platelets and other cell types to the extracellular matrix. Loss of the encoded protein is associated with bleeding>gg> disorder platelet-type 9. Antibodies ag>gg>ainst this protein are found in several immune disorders, including>gg> neonatal alloimmune thrombocytopenia. This g>gg>ene is located adjacent to a related alpha subunit g>gg>ene. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Aug>gg> 2012]

ITg>Gg>A3 Gene

integ>gg>rin, alpha 3 (antig>gg>en CD49C, alpha 3 subunit of VLA-3 g>receptorg>)

The g>gg>ene encodes a member of the integ>gg>rin alpha chain family of proteins. Integ>gg>rins are heterodimeric integ>gg>ral membrane proteins composed of an alpha chain and a beta chain that function as cell surface adhesion molecules. The encoded preproprotein is proteolytically processed to g>gg>enerate lig>gg>ht and heavy chains that comprise the alpha 3 subunit. This subunit joins with a beta 1 subunit to form an integ>gg>rin that interacts with extracellular matrix proteins including>gg> members of the laminin family. Expression of this g>gg>ene may be correlated with breast cancer metastasis. [provided by RefSeq, Oct 2015]

ITg>Gg>A4 Gene

integ>gg>rin, alpha 4 (antig>gg>en CD49D, alpha 4 subunit of VLA-4 g>receptorg>)

The g>gg>ene encodes a member of the integ>gg>rin alpha chain family of proteins. Integ>gg>rins are heterodimeric integ>gg>ral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and sig>gg>naling>gg>. The encoded preproprotein is proteolytically processed to g>gg>enerate lig>gg>ht and heavy chains that comprise the alpha 4 subunit. This subunit associates with a beta 1 or beta 7 subunit to form an integ>gg>rin that may play a role in cell motility and mig>gg>ration. This integ>gg>rin is a therapeutic targ>gg>et for the treatment of multiple sclerosis, Crohn's disease and inflammatory bowel disease. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Oct 2015]

ITg>Gg>A5 Gene

integ>gg>rin, alpha 5 (fibronectin g>receptorg>, alpha polypeptide)

The product of this g>gg>ene belong>gg>s to the integ>gg>rin alpha chain family. Integ>gg>rins are heterodimeric integ>gg>ral membrane proteins composed of an alpha subunit and a beta subunit that function in cell surface adhesion and sig>gg>naling>gg>. The encoded preproprotein is proteolytically processed to g>gg>enerate lig>gg>ht and heavy chains that comprise the alpha 5 subunit. This subunit associates with the beta 1 subunit to form a fibronectin g>receptorg>. This integ>gg>rin may promote tumor invasion, and hig>gg>her expression of this g>gg>ene may be correlated with shorter survival time in lung>gg> cancer patients. Note that the integ>gg>rin alpha 5 and integ>gg>rin alpha V subunits are encoded by distinct g>gg>enes. [provided by RefSeq, Oct 2015]

TRHR Gene

thyrotropin-releasing>gg> hormone g>receptorg>

This g>gg>ene encodes a g>Gg> g>protein-coupledg> g>receptorg> for thyrotropin-releasing>gg> hormone (TRH). Upon binding>gg> to TRH, this g>receptorg> activates the inositol phospholipid-calcium-protein kinase C transduction pathway. Mutations in this g>gg>ene have been associated with g>gg>eneralized thyrotropin-releasing>gg> hormone resistance. [provided by RefSeq, Sep 2011]

ITg>Gg>AX Gene

integ>gg>rin, alpha X (complement component 3 g>receptorg> 4 subunit)

This g>gg>ene encodes the integ>gg>rin alpha X chain protein. Integ>gg>rins are heterodimeric integ>gg>ral membrane proteins composed of an alpha chain and a beta chain. This protein combines with the beta 2 chain (ITg>Gg>B2) to form a leukocyte-specific integ>gg>rin referred to as inactivated-C3b (iC3b) g>receptorg> 4 (CR4). The alpha X beta 2 complex seems to overlap the properties of the alpha M beta 2 integ>gg>rin in the adherence of neutrophils and monocytes to stimulated endothelium cells, and in the phag>gg>ocytosis of complement coated particles. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Nov 2013]

ITg>Gg>AM Gene

integ>gg>rin, alpha M (complement component 3 g>receptorg> 3 subunit)

This g>gg>ene encodes the integ>gg>rin alpha M chain. Integ>gg>rins are heterodimeric integ>gg>ral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing>gg> alpha integ>gg>rin combines with the beta 2 chain (ITg>Gg>B2) to form a leukocyte-specific integ>gg>rin referred to as macrophag>gg>e g>receptorg> 1 ('Mac-1'), or inactivated-C3b (iC3b) g>receptorg> 3 ('CR3'). The alpha M beta 2 integ>gg>rin is important in the adherence of neutrophils and monocytes to stimulated endothelium, and also in the phag>gg>ocytosis of complement coated particles. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Mar 2009]

Ig>Gg>F2R Gene

insulin-like g>gg>rowth factor 2 g>receptorg>

This g>gg>ene encodes a g>receptorg> for both insulin-like g>gg>rowth factor 2 and mannose 6-phosphate. The binding>gg> sites for each lig>gg>and are located on different seg>gg>ments of the protein. This g>receptorg> has various functions, including>gg> in the intracellular trafficking>gg> of lysosomal enzymes, the activation of transforming>gg> g>gg>rowth factor beta, and the deg>gg>radation of insulin-like g>gg>rowth factor 2. Mutation or loss of heterozyg>gg>osity of this g>gg>ene has been association with risk of hepatocellular carcinoma. The ortholog>gg>ous mouse g>gg>ene is imprinted and shows exclusive expression from the maternal allele; however, imprinting>gg> of the human g>gg>ene may be polymorphic, as only a minority of individuals showed biased expression from the maternal allele (PMID:8267611). [provided by RefSeq, Nov 2015]

OR4A44P Gene

olfactory g>receptorg>, family 4, subfamily A, member 44 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100421947 Gene

olfactory g>receptorg>, family 6, subfamily C, member 3 pseudog>gg>ene

LOC100421945 Gene

olfactory g>receptorg>, family 6, subfamily C, member 1 pseudog>gg>ene

LOC100421944 Gene

olfactory g>receptorg>, family 9, subfamily K, member 2 pseudog>gg>ene

LOC100421942 Gene

olfactory g>receptorg>, family 6, subfamily C, member 2 pseudog>gg>ene

LOC100421941 Gene

olfactory g>receptorg>, family 6, subfamily Y, member 1 pseudog>gg>ene

OR2K2 Gene

olfactory g>receptorg>, family 2, subfamily K, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4F14P Gene

olfactory g>receptorg>, family 4, subfamily F, member 14 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

NR1D1 Gene

nuclear g>receptorg> subfamily 1, g>gg>roup D, member 1

This g>gg>ene encodes a transcription factor that is a member of the nuclear g>receptorg> subfamily 1. The encoded protein is a lig>gg>and-sensitive transcription factor that neg>gg>atively reg>gg>ulates the expression of core clock proteins. In particular this protein represses the circadian clock transcription factor aryl hydrocarbon g>receptorg> nuclear translocator-like protein 1 (ARNTL). This protein may also be involved in reg>gg>ulating>gg> g>gg>enes that function in metabolic, inflammatory and cardiovascular processes. [provided by RefSeq, Jan 2013]

NR1D2 Gene

nuclear g>receptorg> subfamily 1, g>gg>roup D, member 2

This g>gg>ene encodes a member of the nuclear hormone g>receptorg> family, specifically the NR1 subfamily of g>receptorg>s. The encoded protein functions as a transcriptional repressor and may play a role in circadian rhythms and carbohydrate and lipid metabolism. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]

Og>Gg>FR Gene

opioid g>gg>rowth factor g>receptorg>

The protein encoded by this g>gg>ene is a g>receptorg> for opioid g>gg>rowth factor (Og>Gg>F), also known as [Met(5)]-enkephalin. Og>Gg>F is a neg>gg>ative reg>gg>ulator of cell proliferation and tissue org>gg>anization in a variety of processes. The encoded unbound g>receptorg> for Og>Gg>F has been localized to the outer nuclear envelope, where it binds Og>Gg>F and is translocated into the nucleus. The coding>gg> sequence of this g>gg>ene contains a polymorphic reg>gg>ion of 60 nt tandem imperfect repeat units. Several transcripts containing>gg> between zero and eig>gg>ht repeat units have been reported. [provided by RefSeq, Jul 2008]

VN2R10P Gene

vomeronasal 2 g>receptorg> 10 pseudog>gg>ene

LPAR1 Gene

lysophosphatidic acid g>receptorg> 1

The integ>gg>ral membrane protein encoded by this g>gg>ene is a lysophosphatidic acid (LPA) g>receptorg> from a g>gg>roup known as EDg>Gg> g>receptorg>s. These g>receptorg>s are members of the g>Gg> g>protein-coupledg> g>receptorg> superfamily. Utilized by LPA for cell sig>gg>naling>gg>, EDg>Gg> g>receptorg>s mediate diverse biolog>gg>ic functions, including>gg> proliferation, platelet ag>gg>g>gg>reg>gg>ation, smooth muscle contraction, inhibition of neuroblastoma cell differentiation, chemotaxis, and tumor cell invasion. Many transcript variants encoding>gg> a few different isoforms have been identified for this g>gg>ene. [provided by RefSeq, Oct 2020]

OR52N4 Gene

olfactory g>receptorg>, family 52, subfamily N, member 4 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR52N5 Gene

olfactory g>receptorg>, family 52, subfamily N, member 5

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR52N2 Gene

olfactory g>receptorg>, family 52, subfamily N, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR52N1 Gene

olfactory g>receptorg>, family 52, subfamily N, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5R1 Gene

olfactory g>receptorg>, family 5, subfamily R, member 1 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]

LOC100420096 Gene

Ig>Gg>F-like family g>receptorg> 1 pseudog>gg>ene

LOC100533655 Gene

aryl hydrocarbon g>receptorg> pseudog>gg>ene

OR1S1 Gene

olfactory g>receptorg>, family 1, subfamily S, member 1 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]

OR1S2 Gene

olfactory g>receptorg>, family 1, subfamily S, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

FCER1g>Gg> Gene

Fc frag>gg>ment of Ig>gg>E, hig>gg>h affinity I, g>receptorg> for; g>gg>amma polypeptide

The hig>gg>h affinity Ig>gg>E g>receptorg> is a key molecule involved in allerg>gg>ic reactions. It is a tetramer composed of 1 alpha, 1 beta, and 2 g>gg>amma chains. The g>gg>amma chains are also subunits of other Fc g>receptorg>s. [provided by RefSeq, Jul 2008]

FCER1A Gene

Fc frag>gg>ment of Ig>gg>E, hig>gg>h affinity I, g>receptorg> for; alpha polypeptide

The immunog>gg>lobulin epsilon g>receptorg> (Ig>gg>E g>receptorg>) is the initiator of the allerg>gg>ic response. When two or more hig>gg>h-affinity Ig>gg>E g>receptorg>s are broug>gg>ht tog>gg>ether by allerg>gg>en-bound Ig>gg>E molecules, mediators such as histamine that are responsible for allerg>gg>y symptoms are released. This g>receptorg> is comprised of an alpha subunit, a beta subunit, and two g>gg>amma subunits. The protein encoded by this g>gg>ene represents the alpha subunit. [provided by RefSeq, Aug>gg> 2011]

LOC100422128 Gene

olfactory g>receptorg>, family 52, subfamily H, member 1 pseudog>gg>ene

LOC100422129 Gene

olfactory g>receptorg>, family 56, subfamily A, member 1 pseudog>gg>ene

LOC100422125 Gene

olfactory g>receptorg>, family 51, subfamily B, member 2 pseudog>gg>ene

TRAV23DV6 Gene

T cell g>receptorg> alpha variable 23/delta variable 6

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

OR4D12P Gene

olfactory g>receptorg>, family 4, subfamily D, member 12 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R20P Gene

vomeronasal 1 g>receptorg> 20 pseudog>gg>ene

LRIF1 Gene

lig>gg>and dependent nuclear g>receptorg> interacting>gg> factor 1

Predicted to enable nuclear retinoic acid g>receptorg> binding>gg> activity. Involved in dosag>gg>e compensation by inactivation of X chromosome. Located in centriolar satellite; chromosome, telomeric reg>gg>ion; and nuclear lumen. Implicated in facioscapulohumeral muscular dystrophy 3. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

VN1R94P Gene

vomeronasal 1 g>receptorg> 94 pseudog>gg>ene

MARCO Gene

macrophag>gg>e g>receptorg> with collag>gg>enous structure

The protein encoded by this g>gg>ene is a member of the class A scaveng>gg>er g>receptorg> family and is part of the innate antimicrobial immune system. The protein may bind both g>Gg>ram-neg>gg>ative and g>Gg>ram-positive bacteria via an extracellular, C-terminal, scaveng>gg>er g>receptorg> cysteine-rich (SRCR) domain. In addition to short cytoplasmic and transmembrane domains, there is an extracellular spacer domain and a long>gg>, extracellular collag>gg>enous domain. The protein may form a trimeric molecule by the association of the collag>gg>enous domains of three identical polypeptide chains. [provided by RefSeq, Jul 2008]

OR7E96P Gene

olfactory g>receptorg>, family 7, subfamily E, member 96 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

NPY2R Gene

neuropeptide Y g>receptorg> Y2

Predicted to enable calcium channel reg>gg>ulator activity and neuropeptide Y g>receptorg> activity. Involved in cardiac left ventricle morphog>gg>enesis and outflow tract morphog>gg>enesis. Located in cilium. Implicated in Hunting>gg>ton's disease; morbid obesity; and obesity. Biomarker of peripheral artery disease and temporal lobe epilepsy. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBJ2-4 Gene

T cell g>receptorg> beta joining>gg> 2-4

Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell g>receptorg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBJ2-5 Gene

T cell g>receptorg> beta joining>gg> 2-5

Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell g>receptorg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBJ2-6 Gene

T cell g>receptorg> beta joining>gg> 2-6

Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell g>receptorg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBJ2-7 Gene

T cell g>receptorg> beta joining>gg> 2-7

Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell g>receptorg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBJ2-1 Gene

T cell g>receptorg> beta joining>gg> 2-1

Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell g>receptorg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBJ2-2 Gene

T cell g>receptorg> beta joining>gg> 2-2

Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell g>receptorg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBJ2-3 Gene

T cell g>receptorg> beta joining>gg> 2-3

Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell g>receptorg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR4P1P Gene

olfactory g>receptorg>, family 4, subfamily P, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC105379705 Gene

olfactory g>receptorg> 4F6-like

OR4C14P Gene

olfactory g>receptorg>, family 4, subfamily C, member 14 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7E157P Gene

olfactory g>receptorg>, family 7, subfamily E, member 157 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR6V1 Gene

olfactory g>receptorg>, family 6, subfamily V, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R106P Gene

vomeronasal 1 g>receptorg> 106 pseudog>gg>ene

CNR1 Gene

cannabinoid g>receptorg> 1 (brain)

This g>gg>ene encodes one of two cannabinoid g>receptorg>s. The cannabinoids, principally delta-9-tetrahydrocannabinol and synthetic analog>gg>s, are psychoactive ing>gg>redients of marijuana. The cannabinoid g>receptorg>s are members of the g>gg>uanine-nucleotide-binding>gg> protein (g>Gg>-protein) coupled g>receptorg> family, which inhibit adenylate cyclase activity in a dose-dependent, stereoselective and pertussis toxin-sensitive manner. The two g>receptorg>s have been found to be involved in the cannabinoid-induced CNS effects (including>gg> alterations in mood and cog>gg>nition) experienced by users of marijuana. Multiple transcript variants encoding>gg> two different protein isoforms have been described for this g>gg>ene. [provided by RefSeq, May 2009]

CNR2 Gene

cannabinoid g>receptorg> 2 (macrophag>gg>e)

The cannabinoid delta-9-tetrahydrocannabinol is the principal psychoactive ing>gg>redient of marijuana. The proteins encoded by this g>gg>ene and the cannabinoid g>receptorg> 1 (brain) (CNR1) g>gg>ene have the characteristics of a g>gg>uanine nucleotide-binding>gg> protein (g>Gg>-protein)-coupled g>receptorg> for cannabinoids. They inhibit adenylate cyclase activity in a dose-dependent, stereoselective, and pertussis toxin-sensitive manner. These proteins have been found to be involved in the cannabinoid-induced CNS effects (including>gg> alterations in mood and cog>gg>nition) experienced by users of marijuana. The cannabinoid g>receptorg>s are members of family 1 of the g>Gg>-g>protein-coupledg> g>receptorg>s. [provided by RefSeq, Jul 2008]

OR2A15P Gene

olfactory g>receptorg>, family 2, subfamily A, member 15 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRBV20-1 Gene

T cell g>receptorg> beta variable 20-1

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100421948 Gene

olfactory g>receptorg>, family 6, subfamily C, member 2 pseudog>gg>ene

OR2T34 Gene

olfactory g>receptorg>, family 2, subfamily T, member 34

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2T35 Gene

olfactory g>receptorg>, family 2, subfamily T, member 35

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2T33 Gene

olfactory g>receptorg>, family 2, subfamily T, member 33

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R38P Gene

vomeronasal 1 g>receptorg> 38 pseudog>gg>ene

OR5P1P Gene

olfactory g>receptorg>, family 5, subfamily P, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

5-HT3C2 Gene

5-hydroxytryptamine (serotonin) g>receptorg> 3, family member E pseudog>gg>ene

OR4A47 Gene

olfactory g>receptorg>, family 4, subfamily A, member 47

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

g>Gg>ABBR1 Gene

g>gg>amma-aminobutyric acid (g>Gg>ABA) B g>receptorg>, 1

This g>gg>ene encodes a g>receptorg> for g>gg>amma-aminobutyric acid (g>Gg>ABA), which is the main inhibitory neurotransmitter in the mammalian central nervous system. This g>receptorg> functions as a heterodimer with g>Gg>ABA(B) g>receptorg> 2. Defects in this g>gg>ene may underlie brain disorders such as schizophrenia and epilepsy. Alternative splicing>gg> g>gg>enerates multiple transcript variants, but the full-leng>gg>th nature of some of these variants has not been determined. [provided by RefSeq, Jan 2016]

OR2AS2P Gene

olfactory g>receptorg>, family 2, subfamily AS, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

AHRR Gene

aryl-hydrocarbon g>receptorg> repressor

The protein encoded by this g>gg>ene participates in the aryl hydrocarbon g>receptorg> (AhR) sig>gg>naling>gg> cascade, which mediates dioxin toxicity, and is involved in reg>gg>ulation of cell g>gg>rowth and differentiation. It functions as a feedback modulator by repressing>gg> AhR-dependent g>gg>ene expression. Alternatively spliced transcript variants encoding>gg> different isoforms have been described for this g>gg>ene. [provided by RefSeq, Jun 2011]

LOC102725029 Gene

leukocyte immunog>gg>lobulin-like g>receptorg> subfamily B member 3

VN1R65P Gene

vomeronasal 1 g>receptorg> 65 pseudog>gg>ene

LOC100418679 Gene

olfactory g>receptorg>, family 2, subfamily J, member 3 pseudog>gg>ene

LOC100418678 Gene

olfactory g>receptorg>, family 2, subfamily W, member 1 pseudog>gg>ene

OR8J2 Gene

olfactory g>receptorg>, family 8, subfamily J, member 2 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]

OR8J3 Gene

olfactory g>receptorg>, family 8, subfamily J, member 3

Predicted to enable odorant binding>gg> activity and olfactory g>receptorg> activity. Predicted to be involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway and sensory perception of smell. Predicted to be located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100418677 Gene

olfactory g>receptorg>, family 2, subfamily g>Gg>, member 6 pseudog>gg>ene

OR8J1 Gene

olfactory g>receptorg>, family 8, subfamily J, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100418671 Gene

olfactory g>receptorg>, family 2, subfamily J, member 3 pseudog>gg>ene

LOC100418670 Gene

olfactory g>receptorg>, family 2, subfamily B, member 6 pseudog>gg>ene

LOC100418673 Gene

olfactory g>receptorg>, family 2, subfamily Y, member 1 pseudog>gg>ene

LOC100418672 Gene

olfactory g>receptorg>, family 2, subfamily B, member 2 pseudog>gg>ene

OR2C3 Gene

olfactory g>receptorg>, family 2, subfamily C, member 3

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2C1 Gene

olfactory g>receptorg>, family 2, subfamily C, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR51A2 Gene

olfactory g>receptorg>, family 51, subfamily A, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7E105P Gene

olfactory g>receptorg>, family 7, subfamily E, member 105 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN2R18P Gene

vomeronasal 2 g>receptorg> 18 pseudog>gg>ene

VN1R66P Gene

vomeronasal 1 g>receptorg> 66 pseudog>gg>ene

OR7E53P Gene

olfactory g>receptorg>, family 7, subfamily E, member 53 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR52E7P Gene

olfactory g>receptorg>, family 52, subfamily E, member 7 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

RIPK1 Gene

g>receptorg> (TNFRSF)-interacting>gg> serine-threonine kinase 1

This g>gg>ene encodes a member of the g>receptorg>-interacting>gg> protein (RIP) family of serine/threonine protein kinases. The encoded protein plays a role in inflammation and cell death in response to tissue damag>gg>e, pathog>gg>en recog>gg>nition, and as part of developmental reg>gg>ulation. RIPK1/RIPK3 kinase-mediated necrosis is referred to as necroptosis. g>Gg>enetic disruption of this g>gg>ene in mice results in death shortly after birth. [provided by RefSeq, Aug>gg> 2017]

RIPK3 Gene

g>receptorg>-interacting>gg> serine-threonine kinase 3

The product of this g>gg>ene is a member of the g>receptorg>-interacting>gg> protein (RIP) family of serine/threonine protein kinases, and contains a C-terminal domain unique from other RIP family members. The encoded protein is predominantly localized to the cytoplasm, and can underg>gg>o nucleocytoplasmic shuttling>gg> dependent on novel nuclear localization and export sig>gg>nals. It is a component of the tumor necrosis factor (TNF) g>receptorg>-I sig>gg>naling>gg> complex, and can induce apoptosis and weakly activate the NF-kappaB transcription factor. [provided by RefSeq, Jul 2008]

RIPK2 Gene

g>receptorg>-interacting>gg> serine-threonine kinase 2

This g>gg>ene encodes a member of the g>receptorg>-interacting>gg> protein (RIP) family of serine/threonine protein kinases. The encoded protein contains a C-terminal caspase activation and recruitment domain (CARD), and is a component of sig>gg>naling>gg> complexes in both the innate and adaptive immune pathways. It is a potent activator of NF-kappaB and inducer of apoptosis in response to various stimuli. [provided by RefSeq, Jul 2008]

OR13C1P Gene

olfactory g>receptorg>, family 13, subfamily C, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5J2 Gene

olfactory g>receptorg>, family 5, subfamily J, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRAJ32 Gene

T cell g>receptorg> alpha joining>gg> 32

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

NRBF2P5 Gene

nuclear g>receptorg> binding>gg> factor 2 pseudog>gg>ene 5

LOC102724726 Gene

coxsackievirus and adenovirus g>receptorg>-like

OR4L1 Gene

olfactory g>receptorg>, family 4, subfamily L, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR11K2P Gene

olfactory g>receptorg>, family 11, subfamily K, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10Q2P Gene

olfactory g>receptorg>, family 10, subfamily Q, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC101929104 Gene

mitochondrial import g>receptorg> subunit TOM22 homolog>gg> pseudog>gg>ene

OR7A18P Gene

olfactory g>receptorg>, family 7, subfamily A, member 18 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC101929818 Gene

killer cell immunog>gg>lobulin-like g>receptorg> 3DL1

LOC101929815 Gene

D(1B) dopamine g>receptorg>-like

OR5J7P Gene

olfactory g>receptorg>, family 5, subfamily J, member 7 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

PAQR9 Gene

prog>gg>estin and adipoQ g>receptorg> family member IX

Predicted to enable sig>gg>naling>gg> g>receptorg> activity. Predicted to be located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR51H2P Gene

olfactory g>receptorg>, family 51, subfamily H, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10J6P Gene

olfactory g>receptorg>, family 10, subfamily J, member 6 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

NMBR Gene

neuromedin B g>receptorg>

This g>gg>ene encodes a 7-transmembrane g>Gg> g>protein-coupledg> g>receptorg> that binds neuromedin B, which is a g>gg>rowth factor and mitog>gg>en for g>gg>astrointestinal epithelial tissue and for normal and neoplastic lung>gg>. This g>receptorg> may play a role in smooth muscle contraction, neuronal responses, and the reg>gg>ulation of cell g>gg>rowth. Antag>gg>onists of this g>receptorg> have a potential therapeutic use in inhibiting>gg> tumor cell g>gg>rowth. Polymorphisms in this g>gg>ene may be associated with a susceptibility for schizophrenia. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants. [provided by RefSeq, Apr 2016]

OR6M2P Gene

olfactory g>receptorg>, family 6, subfamily M, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

ROS1 Gene

ROS proto-oncog>gg>ene 1 , g>receptorg> tyrosine kinase

This proto-oncog>gg>ene, hig>gg>hly-expressed in a variety of tumor cell lines, belong>gg>s to the sevenless subfamily of tyrosine kinase insulin g>receptorg> g>gg>enes. The protein encoded by this g>gg>ene is a type I integ>gg>ral membrane protein with tyrosine kinase activity. The protein may function as a g>gg>rowth or differentiation factor g>receptorg>. [provided by RefSeq, Jul 2008]

ADIPOR2 Gene

adiponectin g>receptorg> 2

The adiponectin g>receptorg>s, ADIPOR1 (MIM 607945) and ADIPOR2, serve as g>receptorg>s for g>gg>lobular and full-leng>gg>th adiponectin (MIM 605441) and mediate increased AMPK (see MIM 602739) and PPAR-alpha (PPARA; MIM 170998) lig>gg>and activities, as well as fatty acid oxidation and g>gg>lucose uptake by adiponectin (Yamauchi et al., 2003 [PubMed 12802337]).[supplied by OMIM, Mar 2008]

ADIPOR1 Gene

adiponectin g>receptorg> 1

This g>gg>ene encodes a protein which acts as a g>receptorg> for adiponectin, a hormone secreted by adipocytes which reg>gg>ulates fatty acid catabolism and g>gg>lucose levels. Binding>gg> of adiponectin to the encoded protein results in activation of an AMP-activated kinase sig>gg>naling>gg> pathway which affects levels of fatty acid oxidation and insulin sensitivity. A pseudog>gg>ene of this g>gg>ene is located on chromosome 14. Multiple alternatively spliced transcript variants have been found for this g>gg>ene. [provided by RefSeq, Mar 2014]

OR7E47P Gene

olfactory g>receptorg>, family 7, subfamily E, member 47 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. The nomenclature assig>gg>ned to the olfactory g>receptorg> g>gg>enes and proteins for this org>gg>anism is independent of other org>gg>anisms. [provided by RefSeq, Jul 2008]

VN1R105P Gene

vomeronasal 1 g>receptorg> 105 pseudog>gg>ene

NPTXR Gene

neuronal pentraxin g>receptorg>

This g>gg>ene encodes a protein similar to the rat neuronal pentraxin g>receptorg>. The rat pentraxin g>receptorg> is an integ>gg>ral membrane protein that is thoug>gg>ht to mediate neuronal uptake of the snake venom toxin, taipoxin, and its transport into the synapses. Studies in rat indicate that translation of this mRNA initiates at a non-AUg>Gg> (CUg>Gg>) codon. This may also be true for mouse and human, based on strong>gg> sequence conservation among>gg>st these species. [provided by RefSeq, Jul 2008]

LDLRAD1 Gene

low density lipoprotein g>receptorg> class A domain containing>gg> 1

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LDLRAD2 Gene

low density lipoprotein g>receptorg> class A domain containing>gg> 2

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LDLRAD3 Gene

low density lipoprotein g>receptorg> class A domain containing>gg> 3

Predicted to enable amyloid-beta binding>gg> activity. Predicted to be involved in g>receptorg>-mediated endocytosis. Predicted to act upstream of or within reg>gg>ulation of protein processing>gg>. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CRCP Gene

Cg>Gg>RP g>receptorg> component

This g>gg>ene encodes a membrane protein that functions as part of a g>receptorg> complex for a small neuropeptide that increases intracellular cAMP levels. Alternate transcriptional splice variants, encoding>gg> different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

OR9K1P Gene

olfactory g>receptorg>, family 9, subfamily K, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR13C6P Gene

olfactory g>receptorg>, family 13, subfamily C, member 6 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR13g>Gg>1 Gene

olfactory g>receptorg>, family 13, subfamily g>Gg>, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

g>Gg>NRHR2P1 Gene

g>gg>onadotropin-releasing>gg> hormone (type 2) g>receptorg> 2 pseudog>gg>ene 1

OR4D7P Gene

olfactory g>receptorg>, family 4, subfamily D, member 7 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR11g>Gg>1P Gene

olfactory g>receptorg>, family 11, subfamily g>Gg>, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR52P2P Gene

olfactory g>receptorg>, family 52, subfamily P, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

KIR3DX1 Gene

killer cell immunog>gg>lobulin-like g>receptorg>, three domains, X1

Predicted to be involved in immune response-reg>gg>ulating>gg> sig>gg>naling>gg> pathway. Predicted to be located in extracellular reg>gg>ion. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR10S1 Gene

olfactory g>receptorg>, family 10, subfamily S, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR52X1P Gene

olfactory g>receptorg>, family 52, subfamily X, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR51B3P Gene

olfactory g>receptorg>, family 51, subfamily B, member 3 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR51A10P Gene

olfactory g>receptorg>, family 51, subfamily A, member 10 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

CSF1R Gene

colony stimulating>gg> factor 1 g>receptorg>

The protein encoded by this g>gg>ene is the g>receptorg> for colony stimulating>gg> factor 1, a cytokine which controls the production, differentiation, and function of macrophag>gg>es. This g>receptorg> mediates most if not all of the biolog>gg>ical effects of this cytokine. Lig>gg>and binding>gg> activates the g>receptorg> kinase throug>gg>h a process of olig>gg>omerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane g>receptorg> and member of the CSF1/PDg>Gg>F g>receptorg> family of tyrosine-protein kinases. Mutations in this g>gg>ene have been associated with a predisposition to myeloid malig>gg>nancy. The first intron of this g>gg>ene contains a transcriptionally inactive ribosomal protein L7 processed pseudog>gg>ene oriented in the opposite direction. Alternative splicing>gg> results in multiple transcript variants. Expression of a splice variant from an LTR promoter has been found in Hodg>gg>kin lymphoma (HL), HL cell lines and anaplastic larg>gg>e cell lymphoma. [provided by RefSeq, Mar 2017]

TRg>Gg>J2 Gene

T cell g>receptorg> g>gg>amma joining>gg> 2

TRg>Gg>J1 Gene

T cell g>receptorg> g>gg>amma joining>gg> 1

Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell g>receptorg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRg>Gg>JP Gene

T cell g>receptorg> g>gg>amma joining>gg> P

OR7A5 Gene

olfactory g>receptorg>, family 7, subfamily A, member 5

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R82P Gene

vomeronasal 1 g>receptorg> 82 pseudog>gg>ene

VN1R17P Gene

vomeronasal 1 g>receptorg> 17 pseudog>gg>ene

Predicted to enable pheromone g>receptorg> activity. Predicted to be involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway; response to pheromone; and sensory perception of chemical stimulus. Predicted to act upstream of or within hematopoietic prog>gg>enitor cell differentiation. Predicted to be located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>Cg>Gg>R Gene

g>gg>lucag>gg>on g>receptorg>

The protein encoded by this g>gg>ene is a g>gg>lucag>gg>on g>receptorg> that is important in controlling>gg> blood g>gg>lucose levels. Defects in this g>gg>ene are a cause of non-insulin-dependent diabetes mellitus (NIDDM).[provided by RefSeq, Jan 2010]

OR7E84P Gene

olfactory g>receptorg>, family 7, subfamily E, member 84 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRBV6-8 Gene

T cell g>receptorg> beta variable 6-8

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV6-9 Gene

T cell g>receptorg> beta variable 6-9

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV6-5 Gene

T cell g>receptorg> beta variable 6-5

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV6-6 Gene

T cell g>receptorg> beta variable 6-6

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV6-7 Gene

T cell g>receptorg> beta variable 6-7 (non-functional)

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV6-2 Gene

T cell g>receptorg> beta variable 6-2 (g>gg>ene/pseudog>gg>ene)

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV6-3 Gene

T cell g>receptorg> beta variable 6-3

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR7E15P Gene

olfactory g>receptorg>, family 7, subfamily E, member 15 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

THRB Gene

thyroid hormone g>receptorg>, beta

The protein encoded by this g>gg>ene is a nuclear hormone g>receptorg> for triiodothyronine. It is one of the several g>receptorg>s for thyroid hormone, and has been shown to mediate the biolog>gg>ical activities of thyroid hormone. Knockout studies in mice sug>gg>g>gg>est that the different g>receptorg>s, while having>gg> certain extent of redundancy, may mediate different functions of thyroid hormone. Mutations in this g>gg>ene are known to be a cause of g>gg>eneralized thyroid hormone resistance (g>Gg>THR), a syndrome characterized by g>gg>oiter and hig>gg>h levels of circulating>gg> thyroid hormone (T3-T4), with normal or slig>gg>htly elevated thyroid stimulating>gg> hormone (TSH). Several alternatively spliced transcript variants encoding>gg> the same protein have been observed for this g>gg>ene. [provided by RefSeq, Jul 2008]

DCC Gene

DCC netrin 1 g>receptorg>

This g>gg>ene encodes a netrin 1 g>receptorg>. The transmembrane protein is a member of the immunog>gg>lobulin superfamily of cell adhesion molecules, and mediates axon g>gg>uidance of neuronal g>gg>rowth cones towards sources of netrin 1 lig>gg>and. The cytoplasmic tail interacts with the tyrosine kinases Src and focal adhesion kinase (FAK, also known as PTK2) to mediate axon attraction. The protein partially localizes to lipid rafts, and induces apoptosis in the absence of lig>gg>and. The protein functions as a tumor suppressor, and is frequently mutated or downreg>gg>ulated in colorectal cancer and esophag>gg>eal carcinoma. [provided by RefSeq, Oct 2009]

THRA Gene

thyroid hormone g>receptorg>, alpha

The protein encoded by this g>gg>ene is a nuclear hormone g>receptorg> for triiodothyronine. It is one of the several g>receptorg>s for thyroid hormone, and has been shown to mediate the biolog>gg>ical activities of thyroid hormone. Knockout studies in mice sug>gg>g>gg>est that the different g>receptorg>s, while having>gg> certain extent of redundancy, may mediate different functions of thyroid hormone. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

VN1R78P Gene

vomeronasal 1 g>receptorg> 78 pseudog>gg>ene

OR4F29 Gene

olfactory g>receptorg>, family 4, subfamily F, member 29

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4F21 Gene

olfactory g>receptorg>, family 4, subfamily F, member 21

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRBC1 Gene

T cell g>receptorg> beta constant 1

Predicted to be involved in T cell g>receptorg> sig>gg>naling>gg> pathway; adaptive immune response; and alpha-beta T cell activation. Predicted to be located in membrane. Predicted to be part of alpha-beta T cell g>receptorg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBC2 Gene

T cell g>receptorg> beta constant 2

Predicted to be involved in T cell g>receptorg> sig>gg>naling>gg> pathway; adaptive immune response; and alpha-beta T cell activation. Part of alpha-beta T cell g>receptorg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR8B2 Gene

olfactory g>receptorg>, family 8, subfamily B, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR8B3 Gene

olfactory g>receptorg>, family 8, subfamily B, member 3

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR8B4 Gene

olfactory g>receptorg>, family 8, subfamily B, member 4 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]

OR8B8 Gene

olfactory g>receptorg>, family 8, subfamily B, member 8

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100422142 Gene

olfactory g>receptorg>, family 5, subfamily B, member 12 pseudog>gg>ene

LOC100422140 Gene

olfactory g>receptorg>, family 2, subfamily A, member 42 pseudog>gg>ene

LOC100422141 Gene

olfactory g>receptorg>, family 10, subfamily Q, member 1 pseudog>gg>ene

LOC100422145 Gene

olfactory g>receptorg>, family 2, subfamily AT, member 4 pseudog>gg>ene

OR4F2P Gene

olfactory g>receptorg>, family 4, subfamily F, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100422148 Gene

olfactory g>receptorg>, family 52, subfamily B, member 4 pseudog>gg>ene

LOC100422149 Gene

olfactory g>receptorg>, family 51, subfamily g>Gg>, member 2 pseudog>gg>ene

RYK Gene

g>receptorg>-like tyrosine kinase

The protein encoded by this g>gg>ene is an atypical member of the family of g>gg>rowth factor g>receptorg> protein tyrosine kinases, differing>gg> from other members at a number of conserved residues in the activation and nucleotide binding>gg> domains. This g>gg>ene product belong>gg>s to a subfamily whose members do not appear to be reg>gg>ulated by phosphorylation in the activation seg>gg>ment. It has been sug>gg>g>gg>ested that mediation of biolog>gg>ical activity by recruitment of a sig>gg>naling>gg>-competent auxiliary protein may occur throug>gg>h an as yet uncharacterized mechanism. The encoded protein has a leucine-rich extracellular domain with a WIF-type Wnt binding>gg> reg>gg>ion, a sing>gg>le transmembrane domain, and an intracellular tyrosine kinase domain. This protein is involved in stimulating>gg> Wnt sig>gg>naling>gg> pathways such as the reg>gg>ulation of axon pathfinding>gg>. Alternative splicing>gg> results in multiple transcript variants encoding>gg> distinct isoforms. [provided by RefSeq, Feb 2012]

VN1R37P Gene

vomeronasal 1 g>receptorg> 37 pseudog>gg>ene

LOC100288484 Gene

formyl peptide g>receptorg> 1 pseudog>gg>ene

TRBV21-1 Gene

T cell g>receptorg> beta variable 21-1 (pseudog>gg>ene)

NCOA2 Gene

nuclear g>receptorg> coactivator 2

The protein encoded by this g>gg>ene functions as a transcriptional coactivator for nuclear hormone g>receptorg>s, including>gg> steroid, thyroid, retinoid, and vitamin D g>receptorg>s. The encoded protein acts as an intermediary factor for the lig>gg>and-dependent activity of these nuclear g>receptorg>s, which reg>gg>ulate their targ>gg>et g>gg>enes upon binding>gg> of cog>gg>nate response elements. This g>gg>ene has been found to be involved in translocations that result in fusions with other g>gg>enes in various cancers, including>gg> the lysine acetyltransferase 6A (KAT6A) g>gg>ene in acute myeloid leukemia, the ETS variant 6 (ETV6) g>gg>ene in acute lymphoblastic leukemia, and the hes related family bHLH transcription factor with YRPW motif 1 (HEY1) g>gg>ene in mesenchymal chondrosarcoma. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Mar 2016]

NCOA3 Gene

nuclear g>receptorg> coactivator 3

The protein encoded by this g>gg>ene is a nuclear g>receptorg> coactivator that interacts with nuclear hormone g>receptorg>s to enhance their transcriptional activator functions. The encoded protein has histone acetyltransferase activity and recruits p300/CBP-associated factor and CREB binding>gg> protein as part of a multisubunit coactivation complex. This protein is initially found in the cytoplasm but is translocated into the nucleus upon phosphorylation. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. In addition, a polymorphic repeat reg>gg>ion is found in the C-terminus of the encoded protein. [provided by RefSeq, Mar 2010]

NCOA1 Gene

nuclear g>receptorg> coactivator 1

The protein encoded by this g>gg>ene acts as a transcriptional coactivator for steroid and nuclear hormone g>receptorg>s. It is a member of the p160/steroid g>receptorg> coactivator (SRC) family and like other family members has histone acetyltransferase activity and contains a nuclear localization sig>gg>nal, as well as bHLH and PAS domains. The product of this g>gg>ene binds nuclear g>receptorg>s directly and stimulates the transcriptional activities in a hormone-dependent fashion. Alternatively spliced transcript variants encoding>gg> different isoforms have been identified. [provided by RefSeq, Jul 2008]

NCOA6 Gene

nuclear g>receptorg> coactivator 6

The protein encoded by this g>gg>ene is a transcriptional coactivator that can interact with nuclear hormone g>receptorg>s to enhance their transcriptional activator functions. This protein has been shown to be involved in the hormone-dependent coactivation of several g>receptorg>s, including>gg> prostanoid, retinoid, vitamin D3, thyroid hormone, and steroid g>receptorg>s. Alternatively spliced transcript variants encoding>gg> different isoforms have been described for this g>gg>ene. [provided by RefSeq, Jun 2011]

NCOA7 Gene

nuclear g>receptorg> coactivator 7

Enables nuclear g>receptorg> binding>gg> activity and nuclear g>receptorg> coactivator activity. Involved in positive reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NCOA4 Gene

nuclear g>receptorg> coactivator 4

This g>gg>ene encodes an androg>gg>en g>receptorg> coactivator. The encoded protein interacts with the androg>gg>en g>receptorg> in a lig>gg>and-dependent manner to enhance its transcriptional activity. Chromosomal translocations between this g>gg>ene and the ret tyrosine kinase g>gg>ene, also located on chromosome 10, have been associated with papillary thyroid carcinoma. Alternatively spliced transcript variants have been described. Pseudog>gg>enes are present on chromosomes 4, 5, 10, and 14. [provided by RefSeq, Feb 2009]

NCOA5 Gene

nuclear g>receptorg> coactivator 5

This g>gg>ene encodes a coreg>gg>ulator for the alpha and beta estrog>gg>en g>receptorg>s and the orphan nuclear g>receptorg> NR1D2. The protein localizes to the nucleus, and is thoug>gg>ht to have both coactivator and corepressor functions. Its interaction with nuclear g>receptorg>s is independent of the AF2 domain on the g>receptorg>s, which is known to reg>gg>ulate interaction with other cog>receptorg>s. Several alternatively spliced transcript variants have been found for this g>gg>ene. [provided by RefSeq, Jan 2017]

VN1R81P Gene

vomeronasal 1 g>receptorg> 81 pseudog>gg>ene

NCR3 Gene

natural cytotoxicity trig>gg>g>gg>ering>gg> g>receptorg> 3

The protein encoded by this g>gg>ene is a natural cytotoxicity g>receptorg> (NCR) that may aid NK cells in the lysis of tumor cells. The encoded protein interacts with CD3-zeta (CD247), a T-cell g>receptorg>. A sing>gg>le nucleotide polymorphism in the 5' untranslated reg>gg>ion of this g>gg>ene has been associated with mild malaria suceptibility. Three transcript variants encoding>gg> different isoforms have been found for this g>gg>ene.[provided by RefSeq, May 2010]

NCR1 Gene

natural cytotoxicity trig>gg>g>gg>ering>gg> g>receptorg> 1

Predicted to be involved in immune response-reg>gg>ulating>gg> sig>gg>naling>gg> pathway. Predicted to act upstream of or within defense response to virus and detection of virus. Predicted to be located in cell surface. Predicted to be part of SWI/SNF complex. Predicted to be active in plasma membrane. Biomarker of acquired immunodeficiency syndrome; anog>gg>enital venereal wart; hepatitis C; and lymphoproliferative syndrome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

Pg>Gg>R Gene

prog>gg>esterone g>receptorg>

This g>gg>ene encodes a member of the steroid g>receptorg> superfamily. The encoded protein mediates the physiolog>gg>ical effects of prog>gg>esterone, which plays a central role in reproductive events associated with the establishment and maintenance of preg>gg>nancy. This g>gg>ene uses two distinct promotors and translation start sites in the first exon to produce several transcript variants, both protein coding>gg> and non-protein coding>gg>. Two of the isoforms (A and B) are identical except for an additional 165 amino acids found in the N-terminus of isoform B and mediate their own response g>gg>enes and physiolog>gg>ic effects with little overlap. [provided by RefSeq, Sep 2015]

IZUMO1R Gene

IZUMO1 g>receptorg>, JUNO

Enables sig>gg>naling>gg> g>receptorg> activity. Involved in fusion of sperm to eg>gg>g>gg> plasma membrane involved in sing>gg>le fertilization. Located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR10g>Gg>5P Gene

olfactory g>receptorg>, family 10, subfamily g>Gg>, member 5 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5B3 Gene

olfactory g>receptorg>, family 5, subfamily B, member 3

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5B2 Gene

olfactory g>receptorg>, family 5, subfamily B, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4D1 Gene

olfactory g>receptorg>, family 4, subfamily D, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4D2 Gene

olfactory g>receptorg>, family 4, subfamily D, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4D5 Gene

olfactory g>receptorg>, family 4, subfamily D, member 5

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4D6 Gene

olfactory g>receptorg>, family 4, subfamily D, member 6

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR8B6P Gene

olfactory g>receptorg>, family 8, subfamily B, member 6 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TAS2R63P Gene

taste g>receptorg>, type 2, member 63, pseudog>gg>ene

OR4K8P Gene

olfactory g>receptorg>, family 4, subfamily K, member 8 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100310835 Gene

thyroid hormone g>receptorg> interactor 13 pseudog>gg>ene

OR14J1 Gene

olfactory g>receptorg>, family 14, subfamily J, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100421623 Gene

zona pellucida g>gg>lycoprotein 3 (sperm g>receptorg>) pseudog>gg>ene

NR5A2 Gene

nuclear g>receptorg> subfamily 5, g>gg>roup A, member 2

The protein encoded by this g>gg>ene is a DNA-binding>gg> zinc fing>gg>er transcription factor and is a member of the fushi tarazu factor-1 subfamily of orphan nuclear g>receptorg>s. The encoded protein is involved in the expression of g>gg>enes for hepatitis B virus and cholesterol biosynthesis, and may be an important reg>gg>ulator of embryonic development. [provided by RefSeq, Jun 2016]

NR5A1 Gene

nuclear g>receptorg> subfamily 5, g>gg>roup A, member 1

The protein encoded by this g>gg>ene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this g>gg>ene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect. [provided by RefSeq, Jul 2008]

CXADRP3 Gene

coxsackie virus and adenovirus g>receptorg> pseudog>gg>ene 3

OR5BD1P Gene

olfactory g>receptorg>, family 5, subfamily BD, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7E115P Gene

olfactory g>receptorg>, family 7, subfamily E, member 115 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100288724 Gene

transient g>receptorg> potential cation channel, subfamily C, member 6 pseudog>gg>ene

NR6A1 Gene

nuclear g>receptorg> subfamily 6, g>gg>roup A, member 1

This g>gg>ene encodes an orphan nuclear g>receptorg> which is a member of the nuclear hormone g>receptorg> family. Its expression pattern sug>gg>g>gg>ests that it may be involved in neurog>gg>enesis and g>gg>erm cell development. The protein can homodimerize and bind DNA, but in vivo targ>gg>ets have not been identified. Alternate splicing>gg> results in multiple transcript variants.[provided by RefSeq, Jun 2013]

OR2A3P Gene

olfactory g>receptorg>, family 2, subfamily A, member 3 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2B8P Gene

olfactory g>receptorg>, family 2, subfamily B, member 8 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7E148P Gene

olfactory g>receptorg>, family 7, subfamily E, member 148 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR52B3P Gene

olfactory g>receptorg>, family 52, subfamily B, member 3 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R99P Gene

vomeronasal 1 g>receptorg> 99 pseudog>gg>ene

OR1J4 Gene

olfactory g>receptorg>, family 1, subfamily J, member 4

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRBV23OR9-2 Gene

T cell g>receptorg> beta variable 23/OR9-2 (non-functional)

EPOR Gene

erythropoietin g>receptorg>

This g>gg>ene encodes the erythropoietin g>receptorg> which is a member of the cytokine g>receptorg> family. Upon erythropoietin binding>gg>, this g>receptorg> activates Jak2 tyrosine kinase which activates different intracellular pathways including>gg>: Ras/MAP kinase, phosphatidylinositol 3-kinase and STAT transcription factors. The stimulated erythropoietin g>receptorg> appears to have a role in erythroid cell survival. Defects in the erythropoietin g>receptorg> may produce erythroleukemia and familial erythrocytosis. Dysreg>gg>ulation of this g>gg>ene may affect the g>gg>rowth of certain tumors. Alternate splicing>gg> results in multiple transcript variants.[provided by RefSeq, May 2010]

OR2M2 Gene

olfactory g>receptorg>, family 2, subfamily M, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

FCRL1 Gene

Fc g>receptorg>-like 1

This g>gg>ene encodes a member of the immunog>gg>lobulin g>receptorg> superfamily and is one of several Fc g>receptorg>-like g>gg>lycoproteins clustered on the long>gg> arm of chromosome 1. The encoded protein contains three extracellular C2-like immunog>gg>lobulin domains, a transmembrane domain and a cytoplasmic domain with two immunog>receptorg>-tyrosine activation motifs. This protein may play a role in the reg>gg>ulation of cancer cell g>gg>rowth. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Apr 2009]

FCRL2 Gene

Fc g>receptorg>-like 2

This g>gg>ene encodes a member of the immunog>gg>lobulin g>receptorg> superfamily and is one of several Fc g>receptorg>-like g>gg>lycoproteins clustered on the long>gg> arm of chromosome 1. The encoded protein has four extracellular C2-type immunog>gg>lobulin domains, a transmembrane domain and a cytoplasmic domain that contains one immunog>receptorg>-tyrosine activation motif and two immunog>receptorg>-tyrosine inhibitory motifs. This protein may be a prog>gg>nostic marker for chronic lymphocytic leukemia. Alternatively spliced transcript variants have been described, but their biolog>gg>ical validity has not been determined. [provided by RefSeq, Apr 2009]

FCRL3 Gene

Fc g>receptorg>-like 3

This g>gg>ene encodes a member of the immunog>gg>lobulin g>receptorg> superfamily and is one of several Fc g>receptorg>-like g>gg>lycoproteins clustered on the long>gg> arm of chromosome 1. The encoded protein contains immunog>receptorg>-tyrosine activation motifs and immunog>receptorg>-tyrosine inhibitory motifs in its cytoplasmic domain and may play a role in reg>gg>ulation of the immune system. Mutations in this g>gg>ene have been associated with rheumatoid arthritis, autoimmune thyroid disease, and systemic lupus erythematosus. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Feb 2016]

FCRL4 Gene

Fc g>receptorg>-like 4

This g>gg>ene encodes a member of the immunog>gg>lobulin g>receptorg> superfamily and is one of several Fc g>receptorg>-like g>gg>lycoproteins clustered on the long>gg> arm of chromosome 1. The encoded protein has four extracellular C2-type immunog>gg>lobulin domains, a transmembrane domain and a cytoplasmic domain that contains three immune-g>receptorg> tyrosine-based inhibitory motifs. This protein may play a role in the function of memory B-cells in the epithelia. Aberrations in the chromosomal reg>gg>ion encoding>gg> this g>gg>ene are associated with non-Hodg>gg>kin lymphoma and multiple myeloma. [provided by RefSeq, Apr 2009]

FCRL6 Gene

Fc g>receptorg>-like 6

Enables MHC class II protein binding>gg> activity and protein phosphatase binding>gg> activity. Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway and immune response. Located in external side of plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FCRLA Gene

Fc g>receptorg>-like A

This g>gg>ene encodes a protein similar to g>receptorg>s for the Fc frag>gg>ment of g>gg>amma immunog>gg>lobulin (Ig>gg>g>Gg>). These g>receptorg>s, referred to as FCg>Gg>Rs, mediate the destruction of Ig>gg>g>Gg>-coated antig>gg>ens and of cells induced by antibodies. This encoded protein is selectively expressed in B cells, and may be involved in their development. This protein may also be involved in the development of lymphomas. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this g>gg>ene. [provided by RefSeq, Aug>gg> 2011]

FCRLB Gene

Fc g>receptorg>-like B

FCRL2 belong>gg>s to the Fc g>receptorg> family. Fc g>receptorg>s are involved in phag>gg>ocytosis, antibody-dependent cell cytotoxicity, immediate hypersensitivity, and transcytosis of immunog>gg>lobulins via their ability to bind immunog>gg>lobulin (Ig>gg>) constant reg>gg>ions (Chikaev et al., 2005 [PubMed 15676285]).[supplied by OMIM, Mar 2008]

Ag>Gg>ER Gene

advanced g>gg>lycosylation end product-specific g>receptorg>

The advanced g>gg>lycosylation end product (Ag>Gg>E) g>receptorg> encoded by this g>gg>ene is a member of the immunog>gg>lobulin superfamily of cell surface g>receptorg>s. It is a multilig>gg>and g>receptorg>, and besides Ag>Gg>E, interacts with other molecules implicated in homeostasis, development, and inflammation, and certain diseases, such as diabetes and Alzheimer's disease. Many alternatively spliced transcript variants encoding>gg> different isoforms, as well as non-protein-coding>gg> variants, have been described for this g>gg>ene (PMID:18089847). [provided by RefSeq, May 2011]

OR5H4P Gene

olfactory g>receptorg>, family 5, subfamily H, member 4 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

g>Gg>FRAL Gene

g>Gg>DNF family g>receptorg> alpha like

Enables g>gg>lial cell-derived neurotrophic factor g>receptorg> activity and g>receptorg> tyrosine kinase binding>gg> activity. Involved in g>Gg>DF15-g>Gg>FRAL sig>gg>naling>gg> pathway; positive reg>gg>ulation of MAPK cascade; and positive reg>gg>ulation of phosphatidylinositol 3-kinase/protein kinase B sig>gg>nal transduction. Located in several cellular components, including>gg> actin cytoskeleton; focal adhesion; and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TREML3P Gene

trig>gg>g>gg>ering>gg> g>receptorg> expressed on myeloid cells-like 3, pseudog>gg>ene

TREML3 is located in a g>gg>ene cluster on chromosome 6 with the sing>gg>le Ig>gg> variable (Ig>gg>V) domain activating>gg> g>receptorg>s TREM1 (MIM 605085) and TREM2 (MIM 605086), but it has distinct structural and functional properties (Allcock et al., 2003 [PubMed 12645956]).[supplied by OMIM, Mar 2008]

g>Gg>RIA4 Gene

g>gg>lutamate g>receptorg>, ionotropic, AMPA 4

g>Gg>lutamate g>receptorg>s are the predominant excitatory neurotransmitter g>receptorg>s in the mammalian brain and are activated in a variety of normal neurophysiolog>gg>ic processes. These g>receptorg>s are heteromeric protein complexes composed of multiple subunits, arrang>gg>ed to form lig>gg>and-g>gg>ated ion channels. The classification of g>gg>lutamate g>receptorg>s is based on their activation by different pharmacolog>gg>ic ag>gg>onists. The subunit encoded by this g>gg>ene belong>gg>s to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive g>gg>lutamate g>receptorg>s, and is subject to RNA editing>gg> (Ag>Gg>A->g>Gg>g>Gg>A; R->g>Gg>). Alternative splicing>gg> of this g>gg>ene results in transcript variants encoding>gg> different isoforms, which may vary in their sig>gg>nal transduction properties. Some haplotypes of this g>gg>ene show a positive association with schizophrenia. [provided by RefSeq, Jul 2008]

LOC392232 Gene

transient g>receptorg> potential cation channel, subfamily A, member 1 pseudog>gg>ene

TNFRSF12A Gene

tumor necrosis factor g>receptorg> superfamily, member 12A

Involved in positive reg>gg>ulation of extrinsic apoptotic sig>gg>naling>gg> pathway and reg>gg>ulation of wound healing>gg>. Predicted to be located in cell surface and ruffle. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC286059 Gene

tumor necrosis factor g>receptorg> superfamily, member 10d, decoy with truncated death domain pseudog>gg>ene

OR7E7P Gene

olfactory g>receptorg>, family 7, subfamily E, member 7 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100422479 Gene

integ>gg>rin, alpha X (complement component 3 g>receptorg> 4 subunit) pseudog>gg>ene

TRBV30 Gene

T cell g>receptorg> beta variable 30 (g>gg>ene/pseudog>gg>ene)

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC102725015 Gene

leukocyte immunog>gg>lobulin-like g>receptorg> subfamily B member 3

LOC100288392 Gene

olfactory g>receptorg> pseudog>gg>ene

OR7E22P Gene

olfactory g>receptorg>, family 7, subfamily E, member 22 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

NRADDP Gene

neurotrophin g>receptorg> associated death domain, pseudog>gg>ene

The neurotrophin g>receptorg> alike death domain proteins belong>gg> to the death domain superfamily and are involved in mediating>gg> apoptosis. This g>gg>ene has been inactivated by mutation and is nonfunctional in humans. [provided by RefSeq, Oct 2008]

g>Gg>LRB Gene

g>gg>lycine g>receptorg>, beta

This g>gg>ene encodes the beta subunit of the g>gg>lycine g>receptorg>, which is a pentamer composed of alpha and beta subunits. The g>receptorg> functions as a neurotransmitter-g>gg>ated ion channel, which produces hyperpolarization via increased chloride conductance due to the binding>gg> of g>gg>lycine to the g>receptorg>. Mutations in this g>gg>ene cause startle disease, also known as hereditary hyperekplexia or cong>gg>enital stiff-person syndrome, a disease characterized by muscular rig>gg>idity. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Oct 2009]

EPHA8 Gene

EPH g>receptorg> A8

This g>gg>ene encodes a member of the ephrin g>receptorg> subfamily of the protein-tyrosine kinase family. EPH and EPH-related g>receptorg>s have been implicated in mediating>gg> developmental events, particularly in the nervous system. g>Receptorg>s in the EPH subfamily typically have a sing>gg>le kinase domain and an extracellular reg>gg>ion containing>gg> a Cys-rich domain and 2 fibronectin type III repeats. The ephrin g>receptorg>s are divided into 2 g>gg>roups based on the similarity of their extracellular domain sequences and their affinities for binding>gg> ephrin-A and ephrin-B lig>gg>ands. The protein encoded by this g>gg>ene functions as a g>receptorg> for ephrin A2, A3 and A5 and plays a role in short-rang>gg>e contact-mediated axonal g>gg>uidance during>gg> development of the mammalian nervous system. [provided by RefSeq, Jul 2008]

EPHA7 Gene

EPH g>receptorg> A7

This g>gg>ene belong>gg>s to the ephrin g>receptorg> subfamily of the protein-tyrosine kinase family. EPH and EPH-related g>receptorg>s have been implicated in mediating>gg> developmental events, particularly in the nervous system. g>Receptorg>s in the EPH subfamily typically have a sing>gg>le kinase domain and an extracellular reg>gg>ion containing>gg> a Cys-rich domain and 2 fibronectin type III repeats. The ephrin g>receptorg>s are divided into 2 g>gg>roups based on the similarity of their extracellular domain sequences and their affinities for binding>gg> ephrin-A and ephrin-B lig>gg>ands. Increased expression of this g>gg>ene is associated with multiple forms of carcinoma. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Dec 2013]

EPHA6 Gene

EPH g>receptorg> A6

Predicted to enable transmembrane-ephrin g>receptorg> activity. Predicted to be involved in axon g>gg>uidance and ephrin g>receptorg> sig>gg>naling>gg> pathway. Located in nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

EPHA5 Gene

EPH g>receptorg> A5

This g>gg>ene belong>gg>s to the ephrin g>receptorg> subfamily of the protein-tyrosine kinase family. EPH and EPH-related g>receptorg>s have been implicated in mediating>gg> developmental events, particularly in the nervous system. g>Receptorg>s in the EPH subfamily typically have a sing>gg>le kinase domain and an extracellular reg>gg>ion containing>gg> a Cys-rich domain and 2 fibronectin type III repeats. The ephrin g>receptorg>s are divided into 2 g>gg>roups based on the similarity of their extracellular domain sequences and their affinities for binding>gg> ephrin-A and ephrin-B lig>gg>ands. Alternatively spliced transcript variants encoding>gg> different isoforms have been described. [provided by RefSeq, Aug>gg> 2013]

EPHA4 Gene

EPH g>receptorg> A4

This g>gg>ene belong>gg>s to the ephrin g>receptorg> subfamily of the protein-tyrosine kinase family. EPH and EPH-related g>receptorg>s have been implicated in mediating>gg> developmental events, particularly in the nervous system. g>Receptorg>s in the EPH subfamily typically have a sing>gg>le kinase domain and an extracellular reg>gg>ion containing>gg> a Cys-rich domain and 2 fibronectin type III repeats. The ephrin g>receptorg>s are divided into 2 g>gg>roups based on the similarity of their extracellular domain sequences and their affinities for binding>gg> ephrin-A and ephrin-B lig>gg>ands. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jan 2015]

EPHA3 Gene

EPH g>receptorg> A3

This g>gg>ene belong>gg>s to the ephrin g>receptorg> subfamily of the protein-tyrosine kinase family. EPH and EPH-related g>receptorg>s have been implicated in mediating>gg> developmental events, particularly in the nervous system. g>Receptorg>s in the EPH subfamily typically have a sing>gg>le kinase domain and an extracellular reg>gg>ion containing>gg> a Cys-rich domain and 2 fibronectin type III repeats. The ephrin g>receptorg>s are divided into 2 g>gg>roups based on the similarity of their extracellular domain sequences and their affinities for binding>gg> ephrin-A and ephrin-B lig>gg>ands. This g>gg>ene encodes a protein that binds ephrin-A lig>gg>ands. Two alternatively spliced transcript variants have been described for this g>gg>ene. [provided by RefSeq, Jul 2008]

EPHA2 Gene

EPH g>receptorg> A2

This g>gg>ene belong>gg>s to the ephrin g>receptorg> subfamily of the protein-tyrosine kinase family. EPH and EPH-related g>receptorg>s have been implicated in mediating>gg> developmental events, particularly in the nervous system. g>Receptorg>s in the EPH subfamily typically have a sing>gg>le kinase domain and an extracellular reg>gg>ion containing>gg> a Cys-rich domain and 2 fibronectin type III repeats. The ephrin g>receptorg>s are divided into 2 g>gg>roups based on the similarity of their extracellular domain sequences and their affinities for binding>gg> ephrin-A and ephrin-B lig>gg>ands. This g>gg>ene encodes a protein that binds ephrin-A lig>gg>ands. Mutations in this g>gg>ene are the cause of certain g>gg>enetically-related cataract disorders.[provided by RefSeq, May 2010]

EPHA1 Gene

EPH g>receptorg> A1

This g>gg>ene belong>gg>s to the ephrin g>receptorg> subfamily of the protein-tyrosine kinase family. EPH and EPH-related g>receptorg>s have been implicated in mediating>gg> developmental events, particularly in the nervous system. g>Receptorg>s in the EPH subfamily typically have a sing>gg>le kinase domain and an extracellular reg>gg>ion containing>gg> a Cys-rich domain and 2 fibronectin type III repeats. The ephrin g>receptorg>s are divided into 2 g>gg>roups based on the similarity of their extracellular domain sequences and their affinities for binding>gg> ephrin-A and ephrin-B lig>gg>ands. This g>gg>ene is expressed in some human cancer cell lines and has been implicated in carcinog>gg>enesis. [provided by RefSeq, Jul 2008]

NCOR1P2 Gene

nuclear g>receptorg> corepressor 1 pseudog>gg>ene 2

CD200R1 Gene

CD200 g>receptorg> 1

This g>gg>ene encodes a g>receptorg> for the OX-2 membrane g>gg>lycoprotein. Both the g>receptorg> and substrate are cell surface g>gg>lycoproteins containing>gg> two immunog>gg>lobulin-like domains. This g>receptorg> is restricted to the surfaces of myeloid lineag>gg>e cells and the g>receptorg>-substrate interaction may function as a myeloid downreg>gg>ulatory sig>gg>nal. Mouse studies of a related g>gg>ene sug>gg>g>gg>est that this interaction may control myeloid function in a tissue-specific manner. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants. [provided by RefSeq, Jul 2008]

VN1R29P Gene

vomeronasal 1 g>receptorg> 29 pseudog>gg>ene

MC3R Gene

melanocortin 3 g>receptorg>

This g>gg>ene encodes a g>Gg>-g>protein-coupledg> g>receptorg> for melanocyte-stimulating>gg> hormone and adrenocorticotropic hormone that is expressed in tissues other than the adrenal cortex and melanocytes. This g>gg>ene maps to the same reg>gg>ion as the locus for benig>gg>n neonatal epilepsy. Mice deficient for this g>gg>ene have increased fat mass despite decreased food intake, sug>gg>g>gg>esting>gg> a role for this g>gg>ene product in the reg>gg>ulation of energ>gg>y homeostasis. Mutations in this g>gg>ene are associated with a susceptibility to obesity in humans. [provided by RefSeq, Jul 2008]

OR2AQ1P Gene

olfactory g>receptorg>, family 2, subfamily AQ, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

ITg>Gg>B1 Gene

integ>gg>rin, beta 1 (fibronectin g>receptorg>, beta polypeptide, antig>gg>en CD29 includes MDF2, MSK12)

Integ>gg>rins are heterodimeric proteins made up of alpha and beta subunits. At least 18 alpha and 8 beta subunits have been described in mammals. Integ>gg>rin family members are membrane g>receptorg>s involved in cell adhesion and recog>gg>nition in a variety of processes including>gg> embryog>gg>enesis, hemostasis, tissue repair, immune response and metastatic diffusion of tumor cells. This g>gg>ene encodes a beta subunit. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

ITg>Gg>B2 Gene

integ>gg>rin, beta 2 (complement component 3 g>receptorg> 3 and 4 subunit)

This g>gg>ene encodes an integ>gg>rin beta chain, which combines with multiple different alpha chains to form different integ>gg>rin heterodimers. Integ>gg>rins are integ>gg>ral cell-surface proteins that participate in cell adhesion as well as cell-surface mediated sig>gg>nalling>gg>. The encoded protein plays an important role in immune response and defects in this g>gg>ene cause leukocyte adhesion deficiency. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Dec 2014]

OR4A49P Gene

olfactory g>receptorg>, family 4, subfamily A, member 49 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

IL9R Gene

interleukin 9 g>receptorg>

The protein encoded by this g>gg>ene is a cytokine g>receptorg> that specifically mediates the biolog>gg>ical effects of interleukin 9 (IL9). The functional IL9 g>receptorg> complex requires this protein as well as the interleukin 2 g>receptorg>, g>gg>amma (IL2Rg>Gg>), a common g>gg>amma subunit shared by the g>receptorg>s of many different cytokines. The lig>gg>and binding>gg> of this g>receptorg> leads to the activation of various JAK kinases and STAT proteins, which connect to different biolog>gg>ic responses. This g>gg>ene is located at the pseudoautosomal reg>gg>ions of X and Y chromosomes. g>Gg>enetic studies sug>gg>g>gg>ested an association of this g>gg>ene with the development of asthma. Multiple pseudog>gg>enes on chromosome 9, 10, 16, and 18 have been described. Alternatively spliced transcript variants have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

TAAR5 Gene

trace amine associated g>receptorg> 5

Enables trimethylamine g>receptorg> activity. Involved in adenylate cyclase-activating>gg> g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway. Is active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TAAR6 Gene

trace amine associated g>receptorg> 6

This g>gg>ene encodes a seven-transmembrane g>Gg>-g>protein-coupledg> g>receptorg> that likely functions as a g>receptorg> for endog>gg>enous trace amines. Mutations in this g>gg>ene may be associated with schizophrenia.[provided by RefSeq, Feb 2010]

TAAR1 Gene

trace amine associated g>receptorg> 1

The protein encoded by this g>gg>ene is a g>Gg>-protein coupled g>receptorg> activated by trace amines. The encoded protein responds little or not at all to dopamine, serotonin, epinephrine, or histamine, but responds well to beta-phenylethylamine, p-tyramine, octopamine, and tryptamine. While primarily functioning>gg> in neurolog>gg>ic systems, there is evidence that this g>gg>ene is involved in blood cell and immunolog>gg>ic functions as well. This g>gg>ene is thoug>gg>ht to be intronless. [provided by RefSeq, Nov 2015]

TAAR3 Gene

trace amine associated g>receptorg> 3 (g>gg>ene/pseudog>gg>ene)

Predicted to enable trace-amine g>receptorg> activity. Predicted to be involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway and sensory perception of chemical stimulus. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TAAR2 Gene

trace amine associated g>receptorg> 2

Predicted to enable trace-amine g>receptorg> activity. Predicted to be involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TAAR9 Gene

trace amine associated g>receptorg> 9 (g>gg>ene/pseudog>gg>ene)

TAAR9 is a member of a larg>gg>e family of rhodopsin g>Gg> g>protein-coupledg> g>receptorg>s (g>Gg>PCRs, or g>Gg>PRs). g>Gg>PCRs contain 7 transmembrane domains and transduce extracellular sig>gg>nals throug>gg>h heterotrimeric g>Gg> proteins.[supplied by OMIM, Jul 2005]

TAAR8 Gene

trace amine associated g>receptorg> 8

This g>gg>ene is part of the trace amine g>receptorg> cluster on chromosome 6 and encodes an orphan g>Gg>-protein coupled g>receptorg>. Upreg>gg>ulated expression of this g>gg>ene in astrog>gg>lial cells upon exposure to lipopolysaccharides sug>gg>g>gg>ests a function for the encoded protein in the brain. [provided by RefSeq, Jul 2016]

LOC100287290 Gene

cytokine g>receptorg> CRL2

TRBV3-1 Gene

T cell g>receptorg> beta variable 3-1

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR4Q1P Gene

olfactory g>receptorg>, family 4, subfamily Q, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

CCKBR Gene

cholecystokinin B g>receptorg>

This g>gg>ene encodes a g>Gg>-protein coupled g>receptorg> for g>gg>astrin and cholecystokinin (CCK), reg>gg>ulatory peptides of the brain and g>gg>astrointestinal tract. This protein is a type B g>gg>astrin g>receptorg>, which has a hig>gg>h affinity for both sulfated and nonsulfated CCK analog>gg>s and is found principally in the central nervous system and the g>gg>astrointestinal tract. Alternative splicing>gg> results in multiple transcript variants. A misspliced transcript variant including>gg> an intron has been observed in cells from colorectal and pancreatic tumors. [provided by RefSeq, Dec 2015]

TRBV7-9 Gene

T cell g>receptorg> beta variable 7-9

Predicted to enable MHC protein binding>gg> activity and peptide antig>gg>en binding>gg> activity. Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV7-8 Gene

T cell g>receptorg> beta variable 7-8

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV7-1 Gene

T cell g>receptorg> beta variable 7-1 (non-functional)

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV7-3 Gene

T cell g>receptorg> beta variable 7-3

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV7-2 Gene

T cell g>receptorg> beta variable 7-2

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV7-5 Gene

T cell g>receptorg> beta variable 7-5 (pseudog>gg>ene)

TRBV7-4 Gene

T cell g>receptorg> beta variable 7-4 (g>gg>ene/pseudog>gg>ene)

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV7-7 Gene

T cell g>receptorg> beta variable 7-7

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV7-6 Gene

T cell g>receptorg> beta variable 7-6

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

VN1R71P Gene

vomeronasal 1 g>receptorg> 71 pseudog>gg>ene

OR4A50P Gene

olfactory g>receptorg>, family 4, subfamily A, member 50 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

ANTXR1 Gene

anthrax toxin g>receptorg> 1

This g>gg>ene encodes a type I transmembrane protein and is a tumor-specific endothelial marker that has been implicated in colorectal cancer. The encoded protein has been shown to also be a docking>gg> protein or g>receptorg> for Bacillus anthracis toxin, the causative ag>gg>ent of the disease, anthrax. The binding>gg> of the protective antig>gg>en (PA) component, of the tripartite anthrax toxin, to this g>receptorg> protein mediates delivery of toxin components to the cytosol of cells. Once inside the cell, the other two components of anthrax toxin, edema factor (EF) and lethal factor (LF) disrupt normal cellular processes. Three alternatively spliced variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008]

ANTXR2 Gene

anthrax toxin g>receptorg> 2

This g>gg>ene encodes a g>receptorg> for anthrax toxin. The protein binds to collag>gg>en IV and laminin, sug>gg>g>gg>esting>gg> that it may be involved in extracellular matrix adhesion. Mutations in this g>gg>ene cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Mar 2009]

OR51S1 Gene

olfactory g>receptorg>, family 51, subfamily S, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN2R13P Gene

vomeronasal 2 g>receptorg> 13 pseudog>gg>ene

EPHA10 Gene

EPH g>receptorg> A10

Ephrin g>receptorg>s, the larg>gg>est subfamily of g>receptorg> tyrosine kinases (RTKs), and their ephrin lig>gg>ands are important mediators of cell-cell communication reg>gg>ulating>gg> cell attachment, shape, and mobility in neuronal and epithelial cells (Aasheim et al., 2005 [PubMed 15777695]). See MIM 179610 for additional backg>gg>round on Eph g>receptorg>s and ephrins.[supplied by OMIM, Mar 2008]

ANTXRL Gene

anthrax toxin g>receptorg>-like

Predicted to enable transmembrane sig>gg>naling>gg> g>receptorg> activity. Predicted to be located in membrane. Predicted to be active in cell surface and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

UTS2R Gene

urotensin 2 g>receptorg>

Predicted to enable urotensin II g>receptorg> activity. Predicted to be involved in neuropeptide sig>gg>naling>gg> pathway. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MSR1 Gene

macrophag>gg>e scaveng>gg>er g>receptorg> 1

This g>gg>ene encodes the class A macrophag>gg>e scaveng>gg>er g>receptorg>s, which include three different types (1, 2, 3) g>gg>enerated by alternative splicing>gg> of this g>gg>ene. These g>receptorg>s or isoforms are macrophag>gg>e-specific trimeric integ>gg>ral membrane g>gg>lycoproteins and have been implicated in many macrophag>gg>e-associated physiolog>gg>ical and patholog>gg>ical processes including>gg> atherosclerosis, Alzheimer's disease, and host defense. The isoforms type 1 and type 2 are functional g>receptorg>s and are able to mediate the endocytosis of modified low density lipoproteins (LDLs). The isoform type 3 does not internalize modified LDL (acetyl-LDL) despite having>gg> the domain shown to mediate this function in the types 1 and 2 isoforms. It has an altered intracellular processing>gg> and is trapped within the endoplasmic reticulum, making>gg> it unable to perform endocytosis. The isoform type 3 can inhibit the function of isoforms type 1 and type 2 when co-expressed, indicating>gg> a dominant neg>gg>ative effect and sug>gg>g>gg>esting>gg> a mechanism for reg>gg>ulation of scaveng>gg>er g>receptorg> activity in macrophag>gg>es. [provided by RefSeq, Jul 2008]

LOC100418640 Gene

olfactory g>receptorg>, family 2, subfamily W, member 1 pseudog>gg>ene

LOC100418641 Gene

olfactory g>receptorg>, family 2, subfamily B, member 2 pseudog>gg>ene

OR4K13 Gene

olfactory g>receptorg>, family 4, subfamily K, member 13

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100418643 Gene

olfactory g>receptorg>, family 2, subfamily g>Gg>, member 6 pseudog>gg>ene

CHRNA4 Gene

cholinerg>gg>ic g>receptorg>, nicotinic, alpha 4 (neuronal)

This g>gg>ene encodes a nicotinic acetylcholine g>receptorg>, which belong>gg>s to a superfamily of lig>gg>and-g>gg>ated ion channels that play a role in fast sig>gg>nal transmission at synapses. These pentameric g>receptorg>s can bind acetylcholine, which causes an extensive chang>gg>e in conformation that leads to the opening>gg> of an ion-conducting>gg> channel across the plasma membrane. This protein is an integ>gg>ral membrane g>receptorg> subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional g>receptorg>. Mutations in this g>gg>ene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this g>gg>ene that provide protection ag>gg>ainst nicotine addiction have been described. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Feb 2012]

CHRNA5 Gene

cholinerg>gg>ic g>receptorg>, nicotinic, alpha 5 (neuronal)

The protein encoded by this g>gg>ene is a nicotinic acetylcholine g>receptorg> subunit and a member of a superfamily of lig>gg>and-g>gg>ated ion channels that mediate fast sig>gg>nal transmission at synapses. These g>receptorg>s are thoug>gg>ht to be heteropentamers composed of separate but similar subunits. Defects in this g>gg>ene have been linked to susceptibility to lung>gg> cancer type 2 (LNCR2).[provided by RefSeq, Jun 2010]

CHRNA6 Gene

cholinerg>gg>ic g>receptorg>, nicotinic, alpha 6 (neuronal)

This g>gg>ene encodes an alpha subunit of neuronal nicotinic acetylcholine g>receptorg>s. These g>receptorg>s consist of five subunits and function as ion channels involved in neurotransmission. The encoded protein is a subunit of neuronal nicotinic acetylcholine g>receptorg>s that mediate dopaminerg>gg>ic neurotransmission and are activated by acetylcholine and exog>gg>enous nicotine. Alternatively spliced transcript variants have been observed for this g>gg>ene. Sing>gg>le nucleotide polymorphisms in this g>gg>ene have been associated with both nicotine and alcohol dependence. [provided by RefSeq, Dec 2010]

CHRNA7 Gene

cholinerg>gg>ic g>receptorg>, nicotinic, alpha 7 (neuronal)

The nicotinic acetylcholine g>receptorg>s (nAChRs) are members of a superfamily of lig>gg>and-g>gg>ated ion channels that mediate fast sig>gg>nal transmission at synapses. The nAChRs are thoug>gg>ht to be hetero-pentamers composed of homolog>gg>ous subunits. The proposed structure for each subunit is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular reg>gg>ion. The protein encoded by this g>gg>ene forms a homo-olig>gg>omeric channel, displays marked permeability to calcium ions and is a major component of brain nicotinic g>receptorg>s that are blocked by, and hig>gg>hly sensitive to, alpha-bung>gg>arotoxin. Once this g>receptorg> binds acetylcholine, it underg>gg>oes an extensive chang>gg>e in conformation that affects all subunits and leads to opening>gg> of an ion-conducting>gg> channel across the plasma membrane. This g>gg>ene is located in a reg>gg>ion identified as a major susceptibility locus for juvenile myoclonic epilepsy and a chromosomal location involved in the g>gg>enetic transmission of schizophrenia. An evolutionarily recent partial duplication event in this reg>gg>ion results in a hybrid containing>gg> sequence from this g>gg>ene and a novel FAM7A g>gg>ene. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Feb 2012]

CHRNA1 Gene

cholinerg>gg>ic g>receptorg>, nicotinic, alpha 1 (muscle)

The muscle acetylcholine g>receptorg> consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, g>gg>amma, and delta subunits. This g>gg>ene encodes an alpha subunit that plays a role in acetlycholine binding>gg>/channel g>gg>ating>gg>. Alternatively spliced transcript variants encoding>gg> different isoforms have been identified. [provided by RefSeq, Nov 2012]

CHRNA2 Gene

cholinerg>gg>ic g>receptorg>, nicotinic, alpha 2 (neuronal)

Nicotinic acetylcholine g>receptorg>s (nAChRs) are lig>gg>and-g>gg>ated ion channels formed by a pentameric arrang>gg>ement of alpha and beta subunits to create distinct muscle and neuronal g>receptorg>s. Neuronal g>receptorg>s are found throug>gg>hout the peripheral and central nervous system where they are involved in fast synaptic transmission. This g>gg>ene encodes an alpha subunit that is widely expressed in the brain. The proposed structure for nAChR subunits is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular reg>gg>ion. Mutations in this g>gg>ene cause autosomal dominant nocturnal frontal lobe epilepsy type 4. Sing>gg>le nucleotide polymorphisms (SNPs) in this g>gg>ene have been associated with nicotine dependence. [provided by RefSeq, Nov 2009]

CHRNA3 Gene

cholinerg>gg>ic g>receptorg>, nicotinic, alpha 3 (neuronal)

This locus encodes a member of the nicotinic acetylcholine g>receptorg> family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type subunit, as it contains characteristic adjacent cysteine residues. The encoded protein is a lig>gg>and-g>gg>ated ion channel that likely plays a role in neurotransmission. Polymorphisms in this g>gg>ene have been associated with an increased risk of smoking>gg> initiation and an increased susceptibility to lung>gg> cancer. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]

CHRNA9 Gene

cholinerg>gg>ic g>receptorg>, nicotinic, alpha 9 (neuronal)

This g>gg>ene is a member of the lig>gg>and-g>gg>ated ionic channel family and nicotinic acetylcholine g>receptorg> g>gg>ene superfamily. It encodes a plasma membrane protein that forms homo- or hetero-olig>gg>omeric divalent cation channels. This protein is involved in cochlea hair cell development and is also expressed in the outer hair cells (OHCs) of the adult cochlea. [provided by RefSeq, Feb 2012]

LOC100418649 Gene

olfactory g>receptorg>, family 2, subfamily W, member 1 pseudog>gg>ene

FSHR Gene

follicle stimulating>gg> hormone g>receptorg>

The protein encoded by this g>gg>ene belong>gg>s to family 1 of g>Gg>-protein coupled g>receptorg>s. It is the g>receptorg> for follicle stimulating>gg> hormone and functions in g>gg>onad development. Mutations in this g>gg>ene cause ovarian dysg>gg>enesis type 1, and also ovarian hyperstimulation syndrome. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Mar 2010]

OR7H1P Gene

olfactory g>receptorg>, family 7, subfamily H, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R23P Gene

vomeronasal 1 g>receptorg> 23 pseudog>gg>ene

ILDR2 Gene

immunog>gg>lobulin-like domain containing>gg> g>receptorg> 2

Involved in neg>gg>ative reg>gg>ulation of T cell activation. Predicted to be located in tig>gg>ht junction. Predicted to be active in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ILDR1 Gene

immunog>gg>lobulin-like domain containing>gg> g>receptorg> 1

This g>gg>ene encodes a protein that contains an immunog>gg>lobulin-like domain. The encoded protein may function as a multimeric g>receptorg> at the cell surface. The expression of this g>gg>ene may be a diag>gg>nostic marker for cancer prog>gg>ression. Alternatively spliced transcript variants encoding>gg> multiple protein isoforms have been observed for this g>gg>ene. [provided by RefSeq, Dec 2010]

IL3RA Gene

interleukin 3 g>receptorg>, alpha (low affinity)

The protein encoded by this g>gg>ene is an interleukin 3 specific subunit of a heterodimeric cytokine g>receptorg>. The g>receptorg> is comprised of a lig>gg>and specific alpha subunit and a sig>gg>nal transducing>gg> beta subunit shared by the g>receptorg>s for interleukin 3 (IL3), colony stimulating>gg> factor 2 (CSF2/g>Gg>M-CSF), and interleukin 5 (IL5). The binding>gg> of this protein to IL3 depends on the beta subunit. The beta subunit is activated by the lig>gg>and binding>gg>, and is required for the biolog>gg>ical activities of IL3. This g>gg>ene and the g>gg>ene encoding>gg> the colony stimulating>gg> factor 2 g>receptorg> alpha chain (CSF2RA) form a cytokine g>receptorg> g>gg>ene cluster in a X-Y pseudoautosomal reg>gg>ion on chromosomes X or Y. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been found. [provided by RefSeq, Jun 2012]

OR7E140P Gene

olfactory g>receptorg>, family 7, subfamily E, member 140 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5AC4P Gene

olfactory g>receptorg>, family 5, subfamily AC, member 4 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5B19P Gene

olfactory g>receptorg>, family 5, subfamily B, member 19 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

RELT Gene

RELT tumor necrosis factor g>receptorg>

The protein encoded by this g>gg>ene is a member of the TNF-g>receptorg> superfamily. This g>receptorg> is especially abundant in hematolog>gg>ic tissues. It has been shown to activate the NF-kappaB pathway and selectively bind TNF g>receptorg>-associated factor 1 (TRAF1). This g>receptorg> is capable of stimulating>gg> T-cell proliferation in the presence of CD3 sig>gg>naling>gg>, which sug>gg>g>gg>ests its reg>gg>ulatory role in immune response. Two alternatively spliced transcript variants of this g>gg>ene encoding>gg> the same protein have been reported. [provided by RefSeq, Jul 2008]

PTH2R Gene

parathyroid hormone 2 g>receptorg>

The protein encoded by this g>gg>ene is a member of the g>Gg>-protein coupled g>receptorg> 2 family. This protein is a g>receptorg> for parathyroid hormone (PTH). This g>receptorg> is more selective in lig>gg>and recog>gg>nition and has a more specific tissue distribution compared to parathyroid hormone g>receptorg> 1 (PTHR1). It is activated only by PTH and not by parathyroid hormone-like hormone (PTHLH) and is particularly abundant in brain and pancreas. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jan 2013]

VN1R91P Gene

vomeronasal 1 g>receptorg> 91 pseudog>gg>ene

CXADR Gene

coxsackie virus and adenovirus g>receptorg>

The protein encoded by this g>gg>ene is a type I membrane g>receptorg> for g>gg>roup B coxsackieviruses and subg>gg>roup C adenoviruses. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. Pseudog>gg>enes of this g>gg>ene are found on chromosomes 15, 18, and 21. [provided by RefSeq, May 2011]

LOC100422010 Gene

olfactory g>receptorg>, family 8, subfamily B, member 2 pseudog>gg>ene

LOC100422012 Gene

olfactory g>receptorg>, family 8, subfamily A, member 1 pseudog>gg>ene

OR7E93P Gene

olfactory g>receptorg>, family 7, subfamily E, member 93 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR13D3P Gene

olfactory g>receptorg>, family 13, subfamily D, member 3 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

NPY1R Gene

neuropeptide Y g>receptorg> Y1

This g>gg>ene belong>gg>s to the g>Gg>-g>protein-coupledg> g>receptorg> superfamily. The encoded transmembrane protein mediates the function of neuropeptide Y (NPY), a neurotransmitter, and peptide YY (PYY), a g>gg>astrointestinal hormone. The encoded g>receptorg> underg>gg>oes fast ag>gg>onist-induced internalization throug>gg>h clathrin-coated pits and is subsequently recycled back to the cell membrane. Activation of Y1 g>receptorg>s may result in mobilization of intracellular calcium and inhibition of adenylate cyclase activity. [provided by RefSeq, Aug>gg> 2013]

LOC100422196 Gene

olfactory g>receptorg>, family 4, subfamily F, member 15 pseudog>gg>ene

OR4g>Gg>11P Gene

olfactory g>receptorg>, family 4, subfamily g>Gg>, member 11 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

DRD5P1 Gene

dopamine g>receptorg> D5 pseudog>gg>ene 1

DRD5P2 Gene

dopamine g>receptorg> D5 pseudog>gg>ene 2

COL1AR Gene

collag>gg>en, type I, alpha, g>receptorg>

TRAJ29 Gene

T cell g>receptorg> alpha joining>gg> 29

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ28 Gene

T cell g>receptorg> alpha joining>gg> 28

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ27 Gene

T cell g>receptorg> alpha joining>gg> 27

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ26 Gene

T cell g>receptorg> alpha joining>gg> 26

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ25 Gene

T cell g>receptorg> alpha joining>gg> 25 (non-functional)

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ24 Gene

T cell g>receptorg> alpha joining>gg> 24

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ23 Gene

T cell g>receptorg> alpha joining>gg> 23

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ22 Gene

T cell g>receptorg> alpha joining>gg> 22

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ21 Gene

T cell g>receptorg> alpha joining>gg> 21

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ20 Gene

T cell g>receptorg> alpha joining>gg> 20

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

CCRL1P1 Gene

chemokine (C-C motif) g>receptorg>-like 1 pseudog>gg>ene

P2RX1 Gene

purinerg>gg>ic g>receptorg> P2X, lig>gg>and g>gg>ated ion channel, 1

The protein encoded by this g>gg>ene belong>gg>s to the P2X family of g>Gg>-g>protein-coupledg> g>receptorg>s. These proteins can form homo-and heterotimers and function as ATP-g>gg>ated ion channels and mediate rapid and selective permeability to cations. This protein is primarily localized to smooth muscle where binds ATP and mediates synaptic transmission between neurons and from neurons to smooth muscle and may being>gg> responsible for sympathetic vasoconstriction in small arteries, arterioles and vas deferens. Mouse studies sug>gg>g>gg>est that this g>receptorg> is essential for normal male reproductive function. This protein may also be involved in promoting>gg> apoptosis. [provided by RefSeq, Jun 2013]

P2RX3 Gene

purinerg>gg>ic g>receptorg> P2X, lig>gg>and g>gg>ated ion channel, 3

This g>gg>ene encodes a member of the P2X purinerg>gg>ic g>receptorg> (purinoceptor) g>gg>ene family which includes seven members (P2RX1 - P2RX7). P2X purinoceptors are a family of cation-permeable, lig>gg>and-g>gg>ated ion channels that open in response to the binding>gg> of extracellular adenosine 5'-triphosphate (ATP). The encoded protein is a subunit of the trimeric P2X3 g>receptorg> ion channel which is expressed by sensory or autonomic neurons. A deficiency of the ortholog>gg>ous protein in mice is associated with reduced pain-related behavior and urinary bladder hyporeflexia. [provided by RefSeq, Aug>gg> 2017]

P2RX2 Gene

purinerg>gg>ic g>receptorg> P2X, lig>gg>and g>gg>ated ion channel, 2

The product of this g>gg>ene belong>gg>s to the family of purinoceptors for ATP. This g>receptorg> functions as a lig>gg>and-g>gg>ated ion channel. Binding>gg> to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Multiple transcript variants encoding>gg> distinct isoforms have been identified for this g>gg>ene. [provided by RefSeq, Aug>gg> 2013]

P2RX5 Gene

purinerg>gg>ic g>receptorg> P2X, lig>gg>and g>gg>ated ion channel, 5

The product of this g>gg>ene belong>gg>s to the family of purinoceptors for ATP. This g>receptorg> functions as a lig>gg>and-g>gg>ated ion channel. Alternative splicing>gg> results in multiple transcript variants. Read-throug>gg>h transcription also exists between this g>gg>ene and the neig>gg>hboring>gg> downstream g>gg>ene, TAX1BP3 (Tax1 binding>gg> protein 3). [provided by RefSeq, Mar 2011]

P2RX4 Gene

purinerg>gg>ic g>receptorg> P2X, lig>gg>and g>gg>ated ion channel, 4

The product of this g>gg>ene belong>gg>s to the family of purinoceptors for ATP. This g>receptorg> functions as a lig>gg>and-g>gg>ated ion channel with hig>gg>h calcium permeability. The main pharmacolog>gg>ical distinction between the members of the purinoceptor family is the relative sensitivity to the antag>gg>onists suramin and PPADS. The product of this g>gg>ene has the lowest sensitivity for these antag>gg>onists. Multiple alternatively spliced transcript variants, some protein-coding>gg> and some not protein-coding>gg>, have been found for this g>gg>ene. [provided by RefSeq, Feb 2012]

P2RX6 Gene

purinerg>gg>ic g>receptorg> P2X, lig>gg>and g>gg>ated ion channel, 6

The protein encoded by this g>gg>ene belong>gg>s to the family of P2X g>receptorg>s, which are ATP-g>gg>ated ion channels and mediate rapid and selective permeability to cations. This g>gg>ene is predominantly expressed in skeletal muscle, and reg>gg>ulated by p53. The encoded protein is associated with VE-cadherin at the adherens junctions of human umbilical vein endothelial cells. Alternative splicing>gg> results in multiple transcript variants. A related pseudog>gg>ene, which is also located on chromosome 22, has been identified. [provided by RefSeq, Apr 2009]

TRAV5 Gene

T cell g>receptorg> alpha variable 5

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

FZD10 Gene

frizzled class g>receptorg> 10

This g>gg>ene is a member of the frizzled g>gg>ene family. Members of this family encode 7-transmembrane domain proteins that are g>receptorg>s for the Wing>gg>less type MMTV integ>gg>ration site family of sig>gg>naling>gg> proteins. Most frizzled g>receptorg>s are coupled to the beta-catenin canonical sig>gg>naling>gg> pathway. Using>gg> array analysis, expression of this intronless g>gg>ene is sig>gg>nificantly up-reg>gg>ulated in two cases of primary colon cancer. [provided by RefSeq, Jul 2008]

VN1R79P Gene

vomeronasal 1 g>receptorg> 79 pseudog>gg>ene

SCARF2 Gene

scaveng>gg>er g>receptorg> class F, member 2

The protein encoded by this g>gg>ene is similar to SCARF1/SREC-I, a scaveng>gg>er g>receptorg> protein that mediates the binding>gg> and deg>gg>radation of acetylated low density lipoprotein (Ac-LDL). This protein has only little activity of internalizing>gg> modified low density lipoproteins (LDL), but it can interact with SCARF1 throug>gg>h its extracellular domain. The association of this protein with SCARF1 is suppressed by the presence of scaveng>gg>er lig>gg>ands. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

SCARF1 Gene

scaveng>gg>er g>receptorg> class F, member 1

The protein encoded by this g>gg>ene is a scaveng>gg>er g>receptorg> that is expressed in endothelial cells. It reg>gg>ulates the uptake of chemically modified low density lipoproteins, including>gg> acetylated low density lipoprotein (Ac-LDL), and it may be involved in atherog>gg>enesis. This g>gg>ene is reg>gg>ulated by the transcription factors ZNF444/EZF-2 and SP1. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Apr 2013]

g>Gg>RIN3A Gene

g>gg>lutamate g>receptorg>, ionotropic, N-methyl-D-aspartate 3A

This g>gg>ene encodes a subunit of the N-methyl-D-aspartate (NMDA) g>receptorg>s, which belong>gg> to the superfamily of g>gg>lutamate-reg>gg>ulated ion channels, and function in physiolog>gg>ical and patholog>gg>ical processes in the central nervous system. This subunit shows g>gg>reater than 90% identity to the corresponding>gg> subunit in rat. Studies in the knockout mouse deficient in this subunit sug>gg>g>gg>est that this g>gg>ene may be involved in the development of synaptic elements by modulating>gg> NMDA g>receptorg> activity. [provided by RefSeq, Jul 2008]

g>Gg>RIN3B Gene

g>gg>lutamate g>receptorg>, ionotropic, N-methyl-D-aspartate 3B

The protein encoded by this g>gg>ene is a subunit of an N-methyl-D-aspartate (NMDA) g>receptorg>. The encoded protein is found primarily in motor neurons, where it forms a heterotetramer with g>Gg>RIN1 to create an excitatory g>gg>lycine g>receptorg>. Variations in this g>gg>ene have been proposed to be linked to schizophrenia. [provided by RefSeq, Nov 2015]

OR8F1P Gene

olfactory g>receptorg>, family 8, subfamily F, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R89P Gene

vomeronasal 1 g>receptorg> 89 pseudog>gg>ene

TAS2R20 Gene

taste g>receptorg>, type 2, member 20

This g>gg>ene encodes a member of the taste g>receptorg> two family of class C g>Gg>-protein coupled g>receptorg>s. g>Receptorg>s of this family have a short extracellular N-terminus, seven transmembrane helices, three extracellular loops and three intracellular loops, and an intracellular C-terminus. Members of this family are expressed in a subset of taste g>receptorg> cells, where they function in bitter taste reception, as well as in non-g>gg>ustatory cells including>gg> those of the brain, reproductive org>gg>ans, respiratory system, and g>gg>astrointestinal system. This g>gg>ene maps to the taste g>receptorg> g>gg>ene cluster on chromosome 12p13. [provided by RefSeq, Jul 2016]

TAS2R22 Gene

taste g>receptorg>, type 2, member 22

SSC5D Gene

scaveng>gg>er g>receptorg> cysteine rich family, 5 domains

Predicted to enable fibronectin binding>gg> activity; laminin binding>gg> activity; and scaveng>gg>er g>receptorg> activity. Predicted to be involved in defense response; detection of bacterial lipoprotein; and neg>gg>ative reg>gg>ulation of interleukin-8 production. Predicted to act upstream of or within reg>gg>ulation of interleukin-8 production. Predicted to be located in collag>gg>en-containing>gg> extracellular matrix. Predicted to be active in extracellular matrix and extracellular space. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PVR Gene

poliovirus g>receptorg>

The protein encoded by this g>gg>ene is a transmembrane g>gg>lycoprotein belong>gg>ing>gg> to the immunog>gg>lobulin superfamily. The external domain mediates cell attachment to the extracellular matrix molecule vitronectin, while its intracellular domain interacts with the dynein lig>gg>ht chain Tctex-1/DYNLT1. The g>gg>ene is specific to the primate lineag>gg>e, and serves as a cellular g>receptorg> for poliovirus in the first step of poliovirus replication. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Oct 2008]

OR4A9P Gene

olfactory g>receptorg>, family 4, subfamily A, member 9 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4A41P Gene

olfactory g>receptorg>, family 4, subfamily A, member 41 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2AS1P Gene

olfactory g>receptorg>, family 2, subfamily AS, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5AO1P Gene

olfactory g>receptorg>, family 5, subfamily AO, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7A8P Gene

olfactory g>receptorg>, family 7, subfamily A, member 8 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR52L2P Gene

olfactory g>receptorg>, family 52, subfamily L, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10U1P Gene

olfactory g>receptorg>, family 10, subfamily U, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100418644 Gene

olfactory g>receptorg>, family 2, subfamily W, member 1 pseudog>gg>ene

LOC100418645 Gene

olfactory g>receptorg>, family 2, subfamily W, member 1 pseudog>gg>ene

LOC100418646 Gene

olfactory g>receptorg>, family 2, subfamily J, member 3 pseudog>gg>ene

LOC100418647 Gene

olfactory g>receptorg>, family 2, subfamily B, member 2 pseudog>gg>ene

LOC100421938 Gene

olfactory g>receptorg>, family 13, subfamily D, member 1 pseudog>gg>ene

LOC100421939 Gene

olfactory g>receptorg>, family 5, subfamily M, member 8 pseudog>gg>ene

LOC100421937 Gene

olfactory g>receptorg>, family 7, subfamily E, member 24 pseudog>gg>ene

LOC100421934 Gene

olfactory g>receptorg>, family 7, subfamily E, member 24 pseudog>gg>ene

LOC100421935 Gene

olfactory g>receptorg>, family 13, subfamily C, member 8 pseudog>gg>ene

LOC100421933 Gene

olfactory g>receptorg>, family 13, subfamily C, member 2 pseudog>gg>ene

OR7E101P Gene

olfactory g>receptorg>, family 7, subfamily E, member 101 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

CR1L Gene

complement component (3b/4b) g>receptorg> 1-like

Acts upstream of or within reg>gg>ulation of complement activation and reg>gg>ulation of complement-dependent cytotoxicity. Part of g>receptorg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR2F1 Gene

olfactory g>receptorg>, family 2, subfamily F, member 1 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]

OR5BT1P Gene

olfactory g>receptorg>, family 5, subfamily BT, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5BN1P Gene

olfactory g>receptorg>, family 5, subfamily BN, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7E102P Gene

olfactory g>receptorg>, family 7, subfamily E, member 102 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R61P Gene

vomeronasal 1 g>receptorg> 61 pseudog>gg>ene

TRAV29DV5 Gene

T cell g>receptorg> alpha variable 29/delta variable 5 (g>gg>ene/pseudog>gg>ene)

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

OR51F3P Gene

olfactory g>receptorg>, family 51, subfamily F, member 3 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR52K1 Gene

olfactory g>receptorg>, family 52, subfamily K, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2L3 Gene

olfactory g>receptorg>, family 2, subfamily L, member 3

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100420513 Gene

TNF g>receptorg>-associated factor 4 pseudog>gg>ene

OR5BH1P Gene

olfactory g>receptorg>, family 5, subfamily BH, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5W2 Gene

olfactory g>receptorg>, family 5, subfamily W, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR1X1P Gene

olfactory g>receptorg>, family 1, subfamily X, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OSCAR Gene

osteoclast associated, immunog>gg>lobulin-like g>receptorg>

Osteoclasts are multinucleated cells that resorb bone and are essential for bone homeostasis. This g>gg>ene encodes an osteoclast-associated g>receptorg> (OSCAR), which is a member of the leukocyte g>receptorg> complex protein family that plays critical roles in the reg>gg>ulation of both innate and adaptive immune responses. The encoded protein may play a role in oxidative stress-mediated atherog>gg>enesis as well as monocyte adhesion. Multiple alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Aug>gg> 2013]

CRHR2 Gene

corticotropin releasing>gg> hormone g>receptorg> 2

The protein encoded by this g>gg>ene belong>gg>s to the g>Gg>-protein coupled g>receptorg> 2 family, and the subfamily of corticotropin releasing>gg> hormone g>receptorg>. This g>receptorg> shows hig>gg>h affinity for corticotropin releasing>gg> hormone (CRH), and also binds CRH-related peptides such as urocortin. CRH is synthesized in the hypothalamus, and plays an important role in coordinating>gg> the endocrine, autonomic, and behavioral responses to stress and immune challeng>gg>e. Studies in mice sug>gg>g>gg>est that this g>receptorg> maybe involved in mediating>gg> cardiovascular homeostasis. Alternatively spliced transcript variants encoding>gg> different isoforms have been described for this g>gg>ene.[provided by RefSeq, Jan 2011]

CRHR1 Gene

corticotropin releasing>gg> hormone g>receptorg> 1

This g>gg>ene encodes a g>Gg>-protein coupled g>receptorg> that binds neuropeptides of the corticotropin releasing>gg> hormone family that are major reg>gg>ulators of the hypothalamic-pituitary-adrenal pathway. The encoded protein is essential for the activation of sig>gg>nal transduction pathways that reg>gg>ulate diverse physiolog>gg>ical processes including>gg> stress, reproduction, immune response and obesity. Alternative splicing>gg> results in multiple transcript variants. Naturally-occurring>gg> readthroug>gg>h transcription between this g>gg>ene and upstream g>Gg>eneID:147081 results in transcripts that encode isoforms that share similarity with the products of this g>gg>ene. [provided by RefSeq, Aug>gg> 2016]

OR51C4P Gene

olfactory g>receptorg>, family 51, subfamily C, member 4 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7E160P Gene

olfactory g>receptorg>, family 7, subfamily E, member 160 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR1E2 Gene

olfactory g>receptorg>, family 1, subfamily E, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR1E3 Gene

olfactory g>receptorg>, family 1, subfamily E, member 3 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR1E1 Gene

olfactory g>receptorg>, family 1, subfamily E, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100422098 Gene

olfactory g>receptorg>, family 7, subfamily E, member 24 pseudog>gg>ene

LOC100422099 Gene

olfactory g>receptorg>, family 5, subfamily B, member 21 pseudog>gg>ene

DRD4 Gene

dopamine g>receptorg> D4

This g>gg>ene encodes the D4 subtype of the dopamine g>receptorg>. The D4 subtype is a g>Gg>-protein coupled g>receptorg> which inhibits adenylyl cyclase. It is a targ>gg>et for drug>gg>s which treat schizophrenia and Parkinson disease. Mutations in this g>gg>ene have been associated with various behavioral phenotypes, including>gg> autonomic nervous system dysfunction, attention deficit/hyperactivity disorder, and the personality trait of novelty seeking>gg>. This g>gg>ene contains a polymorphic number (2-10 copies) of tandem 48 nt repeats; the sequence shown contains four repeats. [provided by RefSeq, Jul 2008]

DRD5 Gene

dopamine g>receptorg> D5

This g>gg>ene encodes the D5 subtype of the dopamine g>receptorg>. The D5 subtype is a g>Gg>-protein coupled g>receptorg> which stimulates adenylyl cyclase. This g>receptorg> is expressed in neurons in the limbic reg>gg>ions of the brain. It has a 10-fold hig>gg>her affinity for dopamine than the D1 subtype. Pseudog>gg>enes related to this g>gg>ene reside on chromosomes 1 and 2. [provided by RefSeq, Jul 2008]

DRD2 Gene

dopamine g>receptorg> D2

This g>gg>ene encodes the D2 subtype of the dopamine g>receptorg>. This g>Gg>-protein coupled g>receptorg> inhibits adenylyl cyclase activity. A missense mutation in this g>gg>ene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing>gg> of this g>gg>ene results in two transcript variants encoding>gg> different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing>gg>. [provided by RefSeq, Jul 2008]

DRD3 Gene

dopamine g>receptorg> D3

This g>gg>ene encodes the D3 subtype of the five (D1-D5) dopamine g>receptorg>s. The activity of the D3 subtype g>receptorg> is mediated by g>Gg> proteins which inhibit adenylyl cyclase. This g>receptorg> is localized to the limbic areas of the brain, which are associated with cog>gg>nitive, emotional, and endocrine functions. g>Gg>enetic variation in this g>gg>ene may be associated with susceptibility to hereditary essential tremor 1. Alternative splicing>gg> of this g>gg>ene results in transcript variants encoding>gg> different isoforms, althoug>gg>h some variants may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Jul 2008]

DRD1 Gene

dopamine g>receptorg> D1

This g>gg>ene encodes the D1 subtype of the dopamine g>receptorg>. The D1 subtype is the most abundant dopamine g>receptorg> in the central nervous system. This g>Gg>-protein coupled g>receptorg> stimulates adenylyl cyclase and activates cyclic AMP-dependent protein kinases. D1 g>receptorg>s reg>gg>ulate neuronal g>gg>rowth and development, mediate some behavioral responses, and modulate dopamine g>receptorg> D2-mediated events. Alternate transcription initiation sites result in two transcript variants of this g>gg>ene. [provided by RefSeq, Jul 2008]

VN2R17P Gene

vomeronasal 2 g>receptorg> 17 pseudog>gg>ene

TNFRSF10A Gene

tumor necrosis factor g>receptorg> superfamily, member 10a

The protein encoded by this g>gg>ene is a member of the TNF-g>receptorg> superfamily. This g>receptorg> is activated by tumor necrosis factor-related apoptosis inducing>gg> lig>gg>and (TNFSF10/TRAIL), and thus transduces cell death sig>gg>nal and induces cell apoptosis. Studies with FADD-deficient mice sug>gg>g>gg>ested that FADD, a death domain containing>gg> adaptor protein, is required for the apoptosis mediated by this protein. [provided by RefSeq, Jul 2008]

OR7E31P Gene

olfactory g>receptorg>, family 7, subfamily E, member 31 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TLR10 Gene

toll-like g>receptorg> 10

The protein encoded by this g>gg>ene is a member of the Toll-like g>receptorg> (TLR) family which plays a fundamental role in pathog>gg>en recog>gg>nition and activation of innate immunity. TLRs are hig>gg>hly conserved from Drosophila to humans and share structural and functional similarities. They recog>gg>nize pathog>gg>en-associated molecular patterns (PAMPs) that are expressed on infectious ag>gg>ents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This g>gg>ene is most hig>gg>hly expressed in lymphoid tissues such as spleen, lymph node, thymus, and tonsil. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this g>gg>ene. [provided by RefSeq, Aug>gg> 2010]

SUCNR1 Gene

succinate g>receptorg> 1

This g>gg>ene encodes a g>Gg>-g>protein-coupledg> g>receptorg> for succinate, an intermediate molecule of the citric acid cycle. It is involved in the promotion of hematopoietic prog>gg>enitor cell development, and it has a potential role in renovascular hypertension which has known correlations to renal failure, diabetes and atherosclerosis. [provided by RefSeq, Oct 2009]

TBXA2R Gene

thromboxane A2 g>receptorg>

This g>gg>ene encodes a member of the g>Gg> g>protein-coupledg> g>receptorg> family. The protein interacts with thromboxane A2 to induce platelet ag>gg>g>gg>reg>gg>ation and reg>gg>ulate hemostasis. A mutation in this g>gg>ene results in a bleeding>gg> disorder. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Oct 2009]

APELA Gene

apelin g>receptorg> early endog>gg>enous lig>gg>and

This g>gg>ene encodes a peptide hormone that binds to the Apelin g>receptorg>. The encoded protein is required for heart development in zebrafish and has been shown to maintain self-renewal of human embryonic stem cells throug>gg>h activation of the PI3K/AKT pathway. Experiments in human and mouse cell lines point to additional roles for the encoded protein in ang>gg>iog>gg>enesis and reg>gg>ulation of vascular tone. [provided by RefSeq, Jul 2016]

g>Gg>ABRR1 Gene

g>gg>amma-aminobutyric acid (g>Gg>ABA) A g>receptorg>, rho 1

g>Gg>ABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at g>Gg>ABA g>receptorg>s, which are lig>gg>and-g>gg>ated chloride channels. g>Gg>ABRR1 is a member of the rho subunit family. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Feb 2012]

g>Gg>ABRR2 Gene

g>gg>amma-aminobutyric acid (g>Gg>ABA) A g>receptorg>, rho 2

g>Gg>amma-aminobutyric acid (g>Gg>ABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at g>Gg>ABA g>receptorg>s, which are lig>gg>and-g>gg>ated chloride channels. The protein encoded by this g>gg>ene is a member of the rho subunit family and is a component of the g>Gg>ABA type A g>receptorg> complex. This g>gg>ene exists on chromosome 6q next to the g>gg>ene encoding>gg> the rho 1 subunit of the g>Gg>ABA type A g>receptorg>, in a reg>gg>ion thoug>gg>ht to be associated with susceptibility for psychiatric disorders and epilepsy. Polymorphisms in this g>gg>ene may also be associated with alcohol dependence, and g>gg>eneral cog>gg>nitive ability. [provided by RefSeq, Apr 2016]

g>Gg>ABRR3 Gene

g>gg>amma-aminobutyric acid (g>Gg>ABA) A g>receptorg>, rho 3 (g>gg>ene/pseudog>gg>ene)

The neurotransmitter g>gg>amma-aminobutyric acid (g>Gg>ABA) functions in the central nervous system to reg>gg>ulate synaptic transmission of neurons. This g>gg>ene encodes one of three related subunits, which combine as homo- or hetero-pentamers to form g>Gg>ABA(C) g>receptorg>s. In humans, some individuals contain a sing>gg>le-base polymorphism (dbSNP rs832032) that is predicted to inactivate the g>gg>ene product. [provided by RefSeq, Jan 2012]

TRg>Gg>V5P Gene

T cell g>receptorg> g>gg>amma variable 5P (pseudog>gg>ene)

LOC100422253 Gene

olfactory g>receptorg>, family 11, subfamily H, member 12 pseudog>gg>ene

OR2AO1P Gene

olfactory g>receptorg>, family 2, subfamily AO, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7E129P Gene

olfactory g>receptorg>, family 7, subfamily E, member 129 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4A12P Gene

olfactory g>receptorg>, family 4, subfamily A, member 12 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TNFRSF21 Gene

tumor necrosis factor g>receptorg> superfamily, member 21

This g>gg>ene encodes a member of the tumor necrosis factor g>receptorg> superfamily. The encoded protein activates nuclear factor kappa-B and mitog>gg>en-activated protein kinase 8 (also called c-Jun N-terminal kinase 1), and induces cell apoptosis. Throug>gg>h its death domain, the encoded g>receptorg> interacts with tumor necrosis factor g>receptorg> type 1-associated death domain (TRADD) protein, which is known to mediate sig>gg>nal transduction of tumor necrosis factor g>receptorg>s. Knockout studies in mice sug>gg>g>gg>est that this g>gg>ene plays a role in T-helper cell activation, and may be involved in inflammation and immune reg>gg>ulation. [provided by RefSeq, Jul 2013]

TNFRSF25 Gene

tumor necrosis factor g>receptorg> superfamily, member 25

The protein encoded by this g>gg>ene is a member of the TNF-g>receptorg> superfamily. This g>receptorg> is expressed preferentially in the tissues enriched in lymphocytes, and it may play a role in reg>gg>ulating>gg> lymphocyte homeostasis. This g>receptorg> has been shown to stimulate NF-kappa B activity and reg>gg>ulate cell apoptosis. The sig>gg>nal transduction of this g>receptorg> is mediated by various death domain containing>gg> adaptor proteins. Knockout studies in mice sug>gg>g>gg>ested the role of this g>gg>ene in the removal of self-reactive T cells in the thymus. Multiple alternatively spliced transcript variants of this g>gg>ene encoding>gg> distinct isoforms have been reported, most of which are potentially secreted molecules. The alternative splicing>gg> of this g>gg>ene in B and T cells encounters a prog>gg>rammed chang>gg>e upon T-cell activation, which predominantly produces full-leng>gg>th, membrane bound isoforms, and is thoug>gg>ht to be involved in controlling>gg> lymphocyte proliferation induced by T-cell activation. [provided by RefSeq, Jul 2008]

VN1R46P Gene

vomeronasal 1 g>receptorg> 46 pseudog>gg>ene

OR5AK3P Gene

olfactory g>receptorg>, family 5, subfamily AK, member 3 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN2R1P Gene

vomeronasal 2 g>receptorg> 1 pseudog>gg>ene

OR10Z1 Gene

olfactory g>receptorg>, family 10, subfamily Z, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

CD244 Gene

CD244 molecule, natural killer cell g>receptorg> 2B4

This g>gg>ene encodes a cell surface g>receptorg> expressed on natural killer (NK) cells (and some T cells) that mediate non-major histocompatibility complex (MHC) restricted killing>gg>. The interaction between NK-cell and targ>gg>et cells via this g>receptorg> is thoug>gg>ht to modulate NK-cell cytolytic activity. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene.[provided by RefSeq, Oct 2009]

OR4A17P Gene

olfactory g>receptorg>, family 4, subfamily A, member 17 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2E1P Gene

olfactory g>receptorg>, family 2, subfamily E, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100421850 Gene

olfactory g>receptorg>, family 2, subfamily S, member 2 pseudog>gg>ene

OR6R1P Gene

olfactory g>receptorg>, family 6, subfamily R, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

SSR1 Gene

sig>gg>nal sequence g>receptorg>, alpha

The sig>gg>nal sequence g>receptorg> (SSR) is a g>gg>lycosylated endoplasmic reticulum (ER) membrane g>receptorg> associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD g>gg>lycoprotein encoded by this g>gg>ene and a 22-kD g>gg>lycoprotein. This g>gg>ene g>gg>enerates several mRNA species as a result of complex alternative polyadenylation. This g>gg>ene is unusual in that it utilizes arrays of polyA sig>gg>nal sequences that are mostly non-canonical. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, May 2014]

SSR4 Gene

sig>gg>nal sequence g>receptorg>, delta

This g>gg>ene encodes the delta subunit of the translocon-associated protein complex which is involved in translocating>gg> proteins across the endoplasmic reticulum membrane. The encoded protein is located in the Xq28 reg>gg>ion and is arrang>gg>ed in a compact head-to-head manner with the isocitrate dehydrog>gg>enase 3 (NAD+) g>gg>amma g>gg>ene and both g>gg>enes are driven by a Cpg>Gg>-embedded bidirectional promoter. Alternate splicing>gg> results in multiple transcript variants.[provided by RefSeq, Mar 2011]

VN1R43P Gene

vomeronasal 1 g>receptorg> 43 pseudog>gg>ene

LOC390846 Gene

g>gg>olg>gg>i SNAP g>receptorg> complex member 2 pseudog>gg>ene

OR7E87P Gene

olfactory g>receptorg>, family 7, subfamily E, member 87 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R10P Gene

vomeronasal 1 g>receptorg> 10 pseudog>gg>ene

Predicted to enable pheromone g>receptorg> activity. Predicted to be involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway and response to pheromone. Predicted to be located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR4A16 Gene

olfactory g>receptorg>, family 4, subfamily A, member 16

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4A15 Gene

olfactory g>receptorg>, family 4, subfamily A, member 15

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

NPBWR1 Gene

neuropeptides B/W g>receptorg> 1

Predicted to enable g>Gg> g>protein-coupledg> g>receptorg> activity and neuropeptide binding>gg> activity. Involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway. Predicted to be located in membrane. Predicted to be active in neuron projection and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR7E12P Gene

olfactory g>receptorg>, family 7, subfamily E, member 12 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4A1P Gene

olfactory g>receptorg>, family 4, subfamily A, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR8C1P Gene

olfactory g>receptorg>, family 8, subfamily C, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC101060524 Gene

D(1B) dopamine g>receptorg>-like

ABL1 Gene

ABL proto-oncog>gg>ene 1, non-g>receptorg> tyrosine kinase

This g>gg>ene is a protooncog>gg>ene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including>gg> cell division, adhesion, differentiation, and response to stress. The activity of the protein is neg>gg>atively reg>gg>ulated by its SH3 domain, whereby deletion of the reg>gg>ion encoding>gg> this domain results in an oncog>gg>ene. The ubiquitously expressed protein has DNA-binding>gg> activity that is reg>gg>ulated by CDC2-mediated phosphorylation, sug>gg>g>gg>esting>gg> a cell cycle function. This g>gg>ene has been found fused to a variety of translocation partner g>gg>enes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster reg>gg>ion g>gg>ene (BCR; MIM:151410). Alternative splicing>gg> of this g>gg>ene results in two transcript variants, which contain alternative first exons that are spliced to the remaining>gg> common exons. [provided by RefSeq, Aug>gg> 2014]

ABL2 Gene

ABL proto-oncog>gg>ene 2, non-g>receptorg> tyrosine kinase

This g>gg>ene encodes a member of the Abelson family of nong>receptorg> tyrosine protein kinases. The protein is hig>gg>hly similar to the c-abl oncog>gg>ene 1 protein, including>gg> the tyrosine kinase, SH2 and SH3 domains, and it plays a role in cytoskeletal rearrang>gg>ements throug>gg>h its C-terminal F-actin- and microtubule-binding>gg> sequences. This g>gg>ene is expressed in both normal and tumor cells, and is involved in translocation with the ets variant 6 g>gg>ene in leukemia. Multiple alternatively spliced transcript variants encoding>gg> different protein isoforms have been found for this g>gg>ene. [provided by RefSeq, Nov 2009]

TRg>Gg>V10 Gene

T cell g>receptorg> g>gg>amma variable 10 (non-functional)

Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell g>receptorg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SRA1 Gene

steroid g>receptorg> RNA activator 1

Both long>gg> non-coding>gg> and protein-coding>gg> RNAs are transcribed from this g>gg>ene, and they represent alternatively spliced transcript variants. This g>gg>ene was initially defined as a non-coding>gg> RNA, which is a coactivator for several nuclear g>receptorg>s (NRs) and is associated with breast cancer. It has now been found that this g>gg>ene is involved in the reg>gg>ulation of many NR and non-NR activities, including>gg> metabolism, adipog>gg>enesis and chromatin org>gg>anization. The long>gg> non-coding>gg> RNA transcripts interact with a variety of proteins, including>gg> the protein encoded by this g>gg>ene. The encoded protein acts as a transcriptional repressor by binding>gg> to the non-coding>gg> RNA. [provided by RefSeq, Mar 2012]

OR1AC1P Gene

olfactory g>receptorg>, family 1, subfamily AC, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR9I1 Gene

olfactory g>receptorg>, family 9, subfamily I, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5D18 Gene

olfactory g>receptorg>, family 5, subfamily D, member 18

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5D13 Gene

olfactory g>receptorg>, family 5, subfamily D, member 13 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]

OR5D14 Gene

olfactory g>receptorg>, family 5, subfamily D, member 14

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5D16 Gene

olfactory g>receptorg>, family 5, subfamily D, member 16

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100422195 Gene

olfactory g>receptorg>, family 4, subfamily F, member 21 pseudog>gg>ene

EPS15L1 Gene

epidermal g>gg>rowth factor g>receptorg> pathway substrate 15-like 1

Enables cadherin binding>gg> activity. Predicted to be involved in endosomal transport and synaptic vesicle endocytosis. Located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SIg>Gg>IRR Gene

sing>gg>le immunog>gg>lobulin and toll-interleukin 1 g>receptorg> (TIR) domain

Involved in neg>gg>ative reg>gg>ulation of Toll sig>gg>naling>gg> pathway. Located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105379645 Gene

killer cell immunog>gg>lobulin-like g>receptorg> 2DL2

VN1R34P Gene

vomeronasal 1 g>receptorg> 34 pseudog>gg>ene

VN1R69P Gene

vomeronasal 1 g>receptorg> 69 pseudog>gg>ene

PKDREJ Gene

polycystin (PKD) family g>receptorg> for eg>gg>g>gg> jelly

This intronless g>gg>ene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a g>receptorg> for eg>gg>g>gg> jelly (REJ) domain, a g>Gg>-g>protein-coupledg> g>receptorg> proteolytic site (g>Gg>PS) domain, and a polycystin-1, lipoxyg>gg>enase, alpha-toxin (PLAT) domain. This protein may play a role in human reproduction. Alternative splice variants have been described but their biolog>gg>ical natures have not been determined. [provided by RefSeq, Jul 2008]

NPFFR2 Gene

neuropeptide FF g>receptorg> 2

This g>gg>ene encodes a member of a subfamily of g>Gg>-g>protein-coupledg> neuropeptide g>receptorg>s. This protein is activated by the neuropeptides A-18-amide (NPAF) and F-8-amide (NPFF) and may function in pain modulation and reg>gg>ulation of the opioid system. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jan 2009]

NPFFR1 Gene

neuropeptide FF g>receptorg> 1

Enables neuropeptide g>receptorg> activity. Involved in neuropeptide sig>gg>naling>gg> pathway. Located in cilium. Is active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

F2RL3 Gene

coag>gg>ulation factor II (thrombin) g>receptorg>-like 3

This g>gg>ene encodes a member of the protease-activated g>receptorg> subfamily, part of the g>Gg>-protein coupled g>receptorg> 1 family of proteins. The encoded g>receptorg> is proteolytically processed to reveal an extracellular N-terminal tethered lig>gg>and that binds to and activates the g>receptorg>. This g>receptorg> plays a role in blood coag>gg>ulation, inflammation and response to pain. Hypomethylation at this g>gg>ene may be associated with lung>gg> cancer in human patients. [provided by RefSeq, Sep 2016]

F2RL2 Gene

coag>gg>ulation factor II (thrombin) g>receptorg>-like 2

This g>gg>ene encodes a member of the protease-activated g>receptorg> (PAR) family which is a subfamily of the seven transmembrane g>Gg> g>protein-coupledg> cell surface g>receptorg> family. The encoded protein acts as a cofactor in the thrombin-mediated cleavag>gg>e and activation of the protease-activated g>receptorg> family member PAR4. The encoded protein plays an essential role in hemostasis and thrombosis. Alternate splicing>gg> results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Feb 2012]

F2RL1 Gene

coag>gg>ulation factor II (thrombin) g>receptorg>-like 1

This g>gg>ene encodes a member of the g>Gg>-protein coupled g>receptorg> 1 family of proteins. The encoded cell surface g>receptorg> is activated throug>gg>h proteolytic cleavag>gg>e of its extracellular amino terminus, resulting>gg> in a new amino terminus that acts as a tethered lig>gg>and that binds to an extracellular loop domain. Activation of the g>receptorg> has been shown to stimulate vascular smooth muscle relaxation, dilate blood vessels, increase blood flow, and lower blood pressure. This protein is also important in the inflammatory response, as well as innate and adaptive immunity. [provided by RefSeq, Jun 2016]

HAVCR1 Gene

hepatitis A virus cellular g>receptorg> 1

The protein encoded by this g>gg>ene is a membrane g>receptorg> for both human hepatitis A virus (HHAV) and TIMD4. The encoded protein may be involved in the moderation of asthma and allerg>gg>ic diseases. The reference g>gg>enome represents an allele that retains a MTTVP amino acid seg>gg>ment that confers protection ag>gg>ainst atopy in HHAV seropositive individuals. The protein is a g>receptorg> for multiple other viruses, including>gg> Ebola virus, Marburg>gg> virus, Deng>gg>ue virus, and Zika virus and is a possible entry factor for SARS-CoV-2 and other coronaviruses. [provided by RefSeq, Sep 2021]

OR7E62P Gene

olfactory g>receptorg>, family 7, subfamily E, member 62 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R14P Gene

vomeronasal 1 g>receptorg> 14 pseudog>gg>ene

LAIR1 Gene

leukocyte-associated immunog>gg>lobulin-like g>receptorg> 1

The protein encoded by this g>gg>ene is an inhibitory g>receptorg> found on peripheral mononuclear cells, including>gg> natural killer cells, T cells, and B cells. Inhibitory g>receptorg>s reg>gg>ulate the immune response to prevent lysis of cells recog>gg>nized as self. The g>gg>ene is a member of both the immunog>gg>lobulin superfamily and the leukocyte-associated inhibitory g>receptorg> family. The g>gg>ene maps to a reg>gg>ion of 19q13.4 called the leukocyte g>receptorg> cluster, which contains at least 29 g>gg>enes encoding>gg> leukocyte-expressed g>receptorg>s of the immunog>gg>lobulin superfamily. The encoded protein has been identified as an anchor for tyrosine phosphatase SHP-1, and may induce cell death in myeloid leukemias. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jan 2014]

LAIR2 Gene

leukocyte-associated immunog>gg>lobulin-like g>receptorg> 2

The protein encoded by this g>gg>ene is a member of the immunog>gg>lobulin superfamily. It was identified by its similarity to leukocyte-associated immunog>gg>lobulin-like g>receptorg> 1, a membrane-bound g>receptorg> that modulates innate immune response. The protein encoded by this locus is a soluble g>receptorg> that may play roles in both inhibition of collag>gg>en-induced platelet ag>gg>g>gg>reg>gg>ation and vessel formation during>gg> placental implantation. This g>gg>ene maps to a reg>gg>ion of 19q13.4, termed the leukocyte g>receptorg> cluster, which contains 29 g>gg>enes in the immunog>gg>lobulin superfamily. Alternatively spliced transcript variants have been described for this g>gg>ene. [provided by RefSeq, Sep 2013]

OR4C2P Gene

olfactory g>receptorg>, family 4, subfamily C, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

NPBWR2 Gene

neuropeptides B/W g>receptorg> 2

The protein encoded by this g>gg>ene is an integ>gg>ral membrane protein and g>Gg> g>protein-coupledg> g>receptorg>. The encoded protein is similar in sequence to another g>Gg> g>protein-coupledg> g>receptorg> (g>Gg>PR7), and it is structurally similar to opioid and somatostatin g>receptorg>s. This protein binds neuropeptides B and W. This g>gg>ene is intronless and is expressed primarily in the frontal cortex of the brain. [provided by RefSeq, Jul 2008]

OR7K1P Gene

olfactory g>receptorg>, family 7, subfamily K, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2AK2 Gene

olfactory g>receptorg>, family 2, subfamily AK, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

IL20RA Gene

interleukin 20 g>receptorg>, alpha

This g>gg>ene encodes a member of the type II cytokine g>receptorg> family. The encoded protein is a subunit of the g>receptorg> for interleukin 20, a cytokine that may be involved in epidermal function. The interleukin 20 g>receptorg> is a heterodimeric complex consisting>gg> of the encoded protein and interleukin 20 g>receptorg> beta. This g>gg>ene and interleukin 20 g>receptorg> beta are hig>gg>hly expressed in skin, and are upreg>gg>ulated in psoriasis. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2013]

IL20RB Gene

interleukin 20 g>receptorg> beta

IL20RB and IL20RA (MIM 605620) form a heterodimeric g>receptorg> for interleukin-20 (IL20; MIM 605619) (Blumberg>gg> et al., 2001 [PubMed 11163236]).[supplied by OMIM, Feb 2009]

OR6C66P Gene

olfactory g>receptorg>, family 6, subfamily C, member 66 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR1M1 Gene

olfactory g>receptorg>, family 1, subfamily M, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRBV21OR9-2 Gene

T cell g>receptorg> beta variable 21/OR9-2 (pseudog>gg>ene)

ACVR1 Gene

activin A g>receptorg>, type I

Activins are dimeric g>gg>rowth and differentiation factors which belong>gg> to the transforming>gg> g>gg>rowth factor-beta (Tg>Gg>F-beta) superfamily of structurally related sig>gg>naling>gg> proteins. Activins sig>gg>nal throug>gg>h a heteromeric complex of g>receptorg> serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) g>receptorg>s. These g>receptorg>s are all transmembrane proteins, composed of a lig>gg>and-binding>gg> extracellular domain with cysteine-rich reg>gg>ion, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I g>receptorg>s are essential for sig>gg>naling>gg>; and type II g>receptorg>s are required for binding>gg> lig>gg>ands and for expression of type I g>receptorg>s. Type I and II g>receptorg>s form a stable complex after lig>gg>and binding>gg>, resulting>gg> in phosphorylation of type I g>receptorg>s by type II g>receptorg>s. This g>gg>ene encodes activin A type I g>receptorg> which sig>gg>nals a particular transcriptional response in concert with activin type II g>receptorg>s. Mutations in this g>gg>ene are associated with fibrodysplasia ossificans prog>gg>ressive. [provided by RefSeq, Jul 2008]

OR2X1P Gene

olfactory g>receptorg>, family 2, subfamily X, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR11H3P Gene

olfactory g>receptorg>, family 11, subfamily H, member 3 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2AM1P Gene

olfactory g>receptorg>, family 2, subfamily AM, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR1M4P Gene

olfactory g>receptorg>, family 1, subfamily M, member 4 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7E39P Gene

olfactory g>receptorg>, family 7, subfamily E, member 39 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7E110P Gene

olfactory g>receptorg>, family 7, subfamily E, member 110 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R55P Gene

vomeronasal 1 g>receptorg> 55 pseudog>gg>ene

KLRg>Gg>1 Gene

killer cell lectin-like g>receptorg> subfamily g>Gg>, member 1

Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also reg>gg>ulate specific humoral and cell-mediated immunity. The protein encoded by this g>gg>ene belong>gg>s to the killer cell lectin-like g>receptorg> (KLR) family, which is a g>gg>roup of transmembrane proteins preferentially expressed in NK cells. Studies in mice sug>gg>g>gg>ested that the expression of this g>gg>ene may be reg>gg>ulated by MHC class I molecules. [provided by RefSeq, Jun 2016]

IL21R Gene

interleukin 21 g>receptorg>

The protein encoded by this g>gg>ene is a cytokine g>receptorg> for interleukin 21 (IL21). It belong>gg>s to the type I cytokine g>receptorg>s, and has been shown to form a heterodimeric g>receptorg> complex with the common g>gg>amma-chain, a g>receptorg> subunit also shared by the g>receptorg>s for interleukin 2, 4, 7, 9, and 15. This g>receptorg> transduces the g>gg>rowth promoting>gg> sig>gg>nal of IL21, and is important for the proliferation and differentiation of T cells, B cells, and natural killer (NK) cells. The lig>gg>and binding>gg> of this g>receptorg> leads to the activation of multiple downstream sig>gg>naling>gg> molecules, including>gg> JAK1, JAK3, STAT1, and STAT3. Knockout studies of a similar g>gg>ene in mouse sug>gg>g>gg>est a role for this g>gg>ene in reg>gg>ulating>gg> immunog>gg>lobulin production. Three alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]

LOC101054525 Gene

prog>gg>esterone g>receptorg> antisense RNA

RARA Gene

retinoic acid g>receptorg>, alpha

This g>gg>ene represents a nuclear retinoic acid g>receptorg>. The encoded protein, retinoic acid g>receptorg> alpha, reg>gg>ulates transcription in a lig>gg>and-dependent manner. This g>gg>ene has been implicated in reg>gg>ulation of development, differentiation, apoptosis, g>gg>ranulopoeisis, and transcription of clock g>gg>enes. Translocations between this locus and several other loci have been associated with acute promyelocytic leukemia. Alternatively spliced transcript variants have been found for this locus.[provided by RefSeq, Sep 2010]

TAS2R50 Gene

taste g>receptorg>, type 2, member 50

TAS2R50 belong>gg>s to the larg>gg>e TAS2R g>receptorg> family. TAS2Rs are expressed on the surface of taste g>receptorg> cells and mediate the perception of bitterness throug>gg>h a g>Gg> g>protein-coupledg> second messeng>gg>er pathway (Conte et al., 2002 [PubMed 12584440]). See also TAS2R10 (MIM 604791).[supplied by OMIM, Mar 2008]

RARB Gene

retinoic acid g>receptorg>, beta

This g>gg>ene encodes retinoic acid g>receptorg> beta, a member of the thyroid-steroid hormone g>receptorg> superfamily of nuclear transcriptional reg>gg>ulators. This g>receptorg> localizes to the cytoplasm and to subnuclear compartments. It binds retinoic acid, the biolog>gg>ically active form of vitamin A which mediates cellular sig>gg>nalling>gg> in embryonic morphog>gg>enesis, cell g>gg>rowth and differentiation. It is thoug>gg>ht that this protein limits g>gg>rowth of many cell types by reg>gg>ulating>gg> g>gg>ene expression. The g>gg>ene was first identified in a hepatocellular carcinoma where it flanks a hepatitis B virus integ>gg>ration site. Alternate promoter usag>gg>e and differential splicing>gg> result in multiple transcript variants. [provided by RefSeq, Mar 2014]

OR4U1P Gene

olfactory g>receptorg>, family 4, subfamily U, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR8V1P Gene

olfactory g>receptorg>, family 8, subfamily V, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR8S21P Gene

olfactory g>receptorg>, family 8, subfamily S, member 21 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN2R9P Gene

vomeronasal 2 g>receptorg> 9 pseudog>gg>ene

OR5H15 Gene

olfactory g>receptorg>, family 5, subfamily H, member 15

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5H14 Gene

olfactory g>receptorg>, family 5, subfamily H, member 14

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7E2P Gene

olfactory g>receptorg>, family 7, subfamily E, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7E24 Gene

olfactory g>receptorg>, family 7, subfamily E, member 24

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7E125P Gene

olfactory g>receptorg>, family 7, subfamily E, member 125 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10R2 Gene

olfactory g>receptorg>, family 10, subfamily R, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LEPROT Gene

leptin g>receptorg> overlapping>gg> transcript

LEPROT is associated with the g>Gg>olg>gg>i complex and endosomes and has a role in cell surface expression of g>gg>rowth hormone g>receptorg> (g>Gg>HR; MIM 600946) and leptin g>receptorg> (OBR, or LEPR; MIM 601007), thereby altering>gg> g>receptorg>-mediated cell sig>gg>naling>gg> (Couturier et al., 2007 [PubMed 18042720]; Touvier et al., 2009 [PubMed 19907080]).[supplied by OMIM, Jul 2010]

OR11L1 Gene

olfactory g>receptorg>, family 11, subfamily L, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R18P Gene

vomeronasal 1 g>receptorg> 18 pseudog>gg>ene

CYSLTR2 Gene

cysteinyl leukotriene g>receptorg> 2

The cysteinyl leukotrienes LTC4, LTD4, and LTE4 are important mediators of human bronchial asthma. Pharmacolog>gg>ic studies have determined that cysteinyl leukotrienes activate at least 2 g>receptorg>s, the protein encoded by this g>gg>ene and CYSLTR1. This encoded g>receptorg> is a member of the superfamily of g>Gg> g>protein-coupledg> g>receptorg>s. It seems to play a major role in endocrine and cardiovascular systems. [provided by RefSeq, Jul 2008]

CYSLTR1 Gene

cysteinyl leukotriene g>receptorg> 1

This g>gg>ene encodes a member of the g>Gg>-protein coupled g>receptorg> 1 family. The encoded protein is a g>receptorg> for cysteinyl leukotrienes, and is involved in mediating>gg> bronchoconstriction via activation of a phosphatidylinositol-calcium second messeng>gg>er system. Activation of the encoded g>receptorg> results in contraction and proliferation of bronchial smooth muscle cells, eosinophil mig>gg>ration, and damag>gg>e to the mucus layer in the lung>gg>. Upreg>gg>ulation of this g>gg>ene is associated with asthma and dysreg>gg>ulation may also be implicated in cancer. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Aug>gg> 2013]

PTg>Gg>IR Gene

prostag>gg>landin I2 (prostacyclin) g>receptorg> (IP)

The protein encoded by this g>gg>ene is a member of the g>Gg>-protein coupled g>receptorg> family 1 and has been shown to be a g>receptorg> for prostacyclin. Prostacyclin, the major product of cyclooxyg>gg>enase in macrovascular endothelium, elicits a potent vasodilation and inhibition of platelet ag>gg>g>gg>reg>gg>ation throug>gg>h binding>gg> to this g>receptorg>. [provided by RefSeq, Jul 2008]

OR7E21P Gene

olfactory g>receptorg>, family 7, subfamily E, member 21 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR6W1P Gene

olfactory g>receptorg>, family 6, subfamily W, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

AHR Gene

aryl hydrocarbon g>receptorg>

The protein encoded by this g>gg>ene is a lig>gg>and-activated helix-loop-helix transcription factor involved in the reg>gg>ulation of biolog>gg>ical responses to planar aromatic hydrocarbons. This g>receptorg> has been shown to reg>gg>ulate xenobiotic-metabolizing>gg> enzymes such as cytochrome P450. Before lig>gg>and binding>gg>, the encoded protein is sequestered in the cytoplasm; upon lig>gg>and binding>gg>, this protein moves to the nucleus and stimulates transcription of targ>gg>et g>gg>enes. [provided by RefSeq, Sep 2015]

P2RX6P Gene

purinerg>gg>ic g>receptorg> P2X, lig>gg>and g>gg>ated ion channel, 6 pseudog>gg>ene

Fg>Gg>FR3P5 Gene

fibroblast g>gg>rowth factor g>receptorg> 3 pseudog>gg>ene 5

LOC222344 Gene

TNF g>receptorg>-associated factor 6

CXCR3 Gene

chemokine (C-X-C motif) g>receptorg> 3

This g>gg>ene encodes a g>Gg> g>protein-coupledg> g>receptorg> with selectivity for three chemokines, termed CXCL9/Mig>gg> (monokine induced by interferon-g>gg>), CXCL10/IP10 (interferon-g>gg>-inducible 10 kDa protein) and CXCL11/I-TAC (interferon-inducible T cell a-chemoattractant). Binding>gg> of chemokines to this protein induces cellular responses that are involved in leukocyte traffic, most notably integ>gg>rin activation, cytoskeletal chang>gg>es and chemotactic mig>gg>ration. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. One of the isoforms (CXCR3-B) shows hig>gg>h affinity binding>gg> to chemokine, CXCL4/PF4 (PMID:12782716). [provided by RefSeq, Jun 2011]

CXCR2 Gene

chemokine (C-X-C motif) g>receptorg> 2

The protein encoded by this g>gg>ene is a member of the g>Gg>-g>protein-coupledg> g>receptorg> family. This protein is a g>receptorg> for interleukin 8 (IL8). It binds to IL8 with hig>gg>h affinity, and transduces the sig>gg>nal throug>gg>h a g>Gg>-protein activated second messeng>gg>er system. This g>receptorg> also binds to chemokine (C-X-C motif) lig>gg>and 1 (CXCL1/Mg>Gg>SA), a protein with melanoma g>gg>rowth stimulating>gg> activity, and has been shown to be a major component required for serum-dependent melanoma cell g>gg>rowth. This g>receptorg> mediates neutrophil mig>gg>ration to sites of inflammation. The ang>gg>iog>gg>enic effects of IL8 in intestinal microvascular endothelial cells are found to be mediated by this g>receptorg>. Knockout studies in mice sug>gg>g>gg>ested that this g>receptorg> controls the positioning>gg> of olig>gg>odendrocyte precursors in developing>gg> spinal cord by arresting>gg> their mig>gg>ration. This g>gg>ene, IL8RA, a g>gg>ene encoding>gg> another hig>gg>h affinity IL8 g>receptorg>, as well as IL8RBP, a pseudog>gg>ene of IL8RB, form a g>gg>ene cluster in a reg>gg>ion mapped to chromosome 2q33-q36. Alternatively spliced variants, encoding>gg> the same protein, have been identified. [provided by RefSeq, Nov 2009]

CXCR1 Gene

chemokine (C-X-C motif) g>receptorg> 1

The protein encoded by this g>gg>ene is a member of the g>Gg>-g>protein-coupledg> g>receptorg> family. This protein is a g>receptorg> for interleukin 8 (IL8). It binds to IL8 with hig>gg>h affinity, and transduces the sig>gg>nal throug>gg>h a g>Gg>-protein activated second messeng>gg>er system. Knockout studies in mice sug>gg>g>gg>ested that this protein inhibits embryonic olig>gg>odendrocyte precursor mig>gg>ration in developing>gg> spinal cord. This g>gg>ene, IL8RB, a g>gg>ene encoding>gg> another hig>gg>h affinity IL8 g>receptorg>, as well as IL8RBP, a pseudog>gg>ene of IL8RB, form a g>gg>ene cluster in a reg>gg>ion mapped to chromosome 2q33-q36. [provided by RefSeq, Jul 2008]

CXCR6 Gene

chemokine (C-X-C motif) g>receptorg> 6

The protein encoded by this g>gg>ene is a g>Gg> g>protein-coupledg> g>receptorg> with seven transmembrane domains that belong>gg>s to the CXC chemokine g>receptorg> family. This family also includes CXCR1, CXCR2, CXCR3, CXCR4, CXCR5, and CXCR7. This g>gg>ene, which maps to the chemokine g>receptorg> g>gg>ene cluster, is expressed in several T lymphocyte subsets and bone marrow stromal cells. The encoded protein and its exclusive lig>gg>and, chemokine lig>gg>and 16 (CCL16), are part of a sig>gg>nalling>gg> pathway that reg>gg>ulates T lymphocyte mig>gg>ration to various peripheral tissues (the liver, spleen red pulp, intestine, lung>gg>s, and skin) and promotes cell-cell interaction with dendritic cells and fibroblastic reticular cells. CXCR6/CCL16 also controls the localization of resident memory T lymphocytes to different compartments of the lung>gg> and maintains airway resident memory T lymphocytes, which are an important first line of defense ag>gg>ainst respiratory pathog>gg>ens. The encoded protein serves as an entry cog>receptorg> used by HIV-1 and SIV to enter targ>gg>et cells, in conjunction with CD4. [provided by RefSeq, Aug>gg> 2020]

CXCR5 Gene

chemokine (C-X-C motif) g>receptorg> 5

This g>gg>ene encodes a multi-pass membrane protein that belong>gg>s to the CXC chemokine g>receptorg> family. It is expressed in mature B-cells and Burkitt's lymphoma. This cytokine g>receptorg> binds to B-lymphocyte chemoattractant (BLC), and is involved in B-cell mig>gg>ration into B-cell follicles of spleen and Peyer patches. Alternatively spliced transcript variants encoding>gg> different isoforms have been described for this g>gg>ene. [provided by RefSeq, Aug>gg> 2011]

CXCR4 Gene

chemokine (C-X-C motif) g>receptorg> 4

This g>gg>ene encodes a CXC chemokine g>receptorg> specific for stromal cell-derived factor-1. The protein has 7 transmembrane reg>gg>ions and is located on the cell surface. It acts with the CD4 protein to support HIV entry into cells and is also hig>gg>hly expressed in breast cancer cells. Mutations in this g>gg>ene have been associated with WHIM (warts, hypog>gg>ammag>gg>lobulinemia, infections, and myelokathexis) syndrome. Alternate transcriptional splice variants, encoding>gg> different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

OR9A2 Gene

olfactory g>receptorg>, family 9, subfamily A, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR9A4 Gene

olfactory g>receptorg>, family 9, subfamily A, member 4

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRAV14DV4 Gene

T cell g>receptorg> alpha variable 14/delta variable 4

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

LOC100422111 Gene

olfactory g>receptorg>, family 7, subfamily A, member 10 pseudog>gg>ene

LOC100422110 Gene

olfactory g>receptorg>, family 7, subfamily E, member 24 pseudog>gg>ene

LOC100422115 Gene

olfactory g>receptorg>, family 52, subfamily B, member 6 pseudog>gg>ene

LOC100422117 Gene

olfactory g>receptorg>, family 51, subfamily L, member 1 pseudog>gg>ene

LOC100422116 Gene

olfactory g>receptorg>, family 52, subfamily M, member 1 pseudog>gg>ene

OR2V2 Gene

olfactory g>receptorg>, family 2, subfamily V, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

KLRg>Gg>2 Gene

killer cell lectin-like g>receptorg> subfamily g>Gg>, member 2

Predicted to enable carbohydrate binding>gg> activity. Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR9g>Gg>2P Gene

olfactory g>receptorg>, family 9, subfamily g>Gg>, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

KLRB1 Gene

killer cell lectin-like g>receptorg> subfamily B, member 1

Natural killer (NK) cells are lymphocytes that mediate cytotoxicity and secrete cytokines after immune stimulation. Several g>gg>enes of the C-type lectin superfamily, including>gg> the rodent NKRP1 family of g>gg>lycoproteins, are expressed by NK cells and may be involved in the reg>gg>ulation of NK cell function. The KLRB1 protein contains an extracellular domain with several motifs characteristic of C-type lectins, a transmembrane domain, and a cytoplasmic domain. The KLRB1 protein is classified as a type II membrane protein because it has an external C terminus. [provided by RefSeq, Jul 2008]

OR9H1P Gene

olfactory g>receptorg>, family 9, subfamily H, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

ADORA1 Gene

adenosine A1 g>receptorg>

The protein encoded by this g>gg>ene is an adenosine g>receptorg> that belong>gg>s to the g>Gg>-protein coupled g>receptorg> 1 family. There are 3 types of adenosine g>receptorg>s, each with a specific pattern of lig>gg>and binding>gg> and tissue distribution, and tog>gg>ether they reg>gg>ulate a diverse set of physiolog>gg>ic functions. The type A1 g>receptorg>s inhibit adenylyl cyclase, and play a role in the fertilization process. Animal studies also sug>gg>g>gg>est a role for A1 g>receptorg>s in kidney function and ethanol intoxication. Transcript variants with alternative splicing>gg> in the 5' UTR have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

ADORA3 Gene

adenosine A3 g>receptorg>

This g>gg>ene encodes a protein that belong>gg>s to the family of adenosine g>receptorg>s, which are g>Gg>-g>protein-coupledg> g>receptorg>s that are involved in a variety of intracellular sig>gg>naling>gg> pathways and physiolog>gg>ical functions. The g>receptorg> encoded by this g>gg>ene mediates a sustained cardioprotective function during>gg> cardiac ischemia, it is involved in the inhibition of neutrophil deg>gg>ranulation in neutrophil-mediated tissue injury, it has been implicated in both neuroprotective and neurodeg>gg>enerative effects, and it may also mediate both cell proliferation and cell death. Alternative splicing>gg> results in multiple transcript variants. This g>gg>ene shares its 5' terminal exon with some transcripts from overlapping>gg> g>Gg>eneID:57413, which encodes an immunog>gg>lobulin domain-containing>gg> protein. [provided by RefSeq, Nov 2014]

OR8g>Gg>7P Gene

olfactory g>receptorg>, family 8, subfamily g>Gg>, member 7 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR51A8P Gene

olfactory g>receptorg>, family 51, subfamily A, member 8 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5BA1P Gene

olfactory g>receptorg>, family 5, subfamily BA, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2M5 Gene

olfactory g>receptorg>, family 2, subfamily M, member 5

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2M4 Gene

olfactory g>receptorg>, family 2, subfamily M, member 4

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2M7 Gene

olfactory g>receptorg>, family 2, subfamily M, member 7

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2M3 Gene

olfactory g>receptorg>, family 2, subfamily M, member 3

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR56B2P Gene

olfactory g>receptorg>, family 56, subfamily B, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TAS2R64P Gene

taste g>receptorg>, type 2, member 64, pseudog>gg>ene

VN1R93P Gene

vomeronasal 1 g>receptorg> 93 pseudog>gg>ene

OR5D17P Gene

olfactory g>receptorg>, family 5, subfamily D, member 17 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR8B12 Gene

olfactory g>receptorg>, family 8, subfamily B, member 12

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR8B1P Gene

olfactory g>receptorg>, family 8, subfamily B, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC440040 Gene

g>gg>lutamate g>receptorg>, metabotropic 5 pseudog>gg>ene

TRBD1 Gene

T cell g>receptorg> beta diversity 1

Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell g>receptorg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105379650 Gene

killer cell immunog>gg>lobulin-like g>receptorg> 2DS1

ARNTL Gene

aryl hydrocarbon g>receptorg> nuclear translocator-like

The protein encoded by this g>gg>ene is a basic helix-loop-helix protein that forms a heterodimer with CLOCK. This heterodimer binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) g>gg>enes and activates transcription of these g>gg>enes. PER and CRY proteins heterodimerize and repress their own transcription by interacting>gg> in a feedback loop with CLOCK/ARNTL complexes. Defects in this g>gg>ene have been linked to infertility, problems with g>gg>luconeog>gg>enesis and lipog>gg>enesis, and altered sleep patterns. The protein reg>gg>ulates interferon-stimulated g>gg>ene expression and is an important factor in viral infection, including>gg> COVID-19. [provided by RefSeq, Oct 2021]

OR14C36 Gene

olfactory g>receptorg>, family 14, subfamily C, member 36

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

ARNT2 Gene

aryl-hydrocarbon g>receptorg> nuclear translocator 2

This g>gg>ene encodes a member of the basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription factors. The encoded protein acts as a partner for several sensor proteins of the bHLH-PAS family, forming>gg> heterodimers with the sensor proteins that bind reg>gg>ulatory DNA sequences in g>gg>enes responsive to developmental and environmental stimuli. Under hypoxic conditions, the encoded protein complexes with hypoxia-inducible factor 1alpha in the nucleus and this complex binds to hypoxia-responsive elements in enhancers and promoters of oxyg>gg>en-responsive g>gg>enes. A hig>gg>hly similar protein in mouse forms functional complexes with both aryl hydrocarbon g>receptorg>s and Sing>gg>le-minded proteins, sug>gg>g>gg>esting>gg> additional roles for the encoded protein in the metabolism of xenobiotic compounds and the reg>gg>ulation of neurog>gg>enesis, respectively. [provided by RefSeq, Dec 2013]

OR10AE3P Gene

olfactory g>receptorg>, family 10, subfamily AE, member 3 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR51N1P Gene

olfactory g>receptorg>, family 51, subfamily N, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5E1P Gene

olfactory g>receptorg>, family 5, subfamily E, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7E145P Gene

olfactory g>receptorg>, family 7, subfamily E, member 145 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR6K4P Gene

olfactory g>receptorg>, family 6, subfamily K, member 4 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100422151 Gene

olfactory g>receptorg>, family 51, subfamily A, member 7 pseudog>gg>ene

VN1R26P Gene

vomeronasal 1 g>receptorg> 26 pseudog>gg>ene

OR2B7P Gene

olfactory g>receptorg>, family 2, subfamily B, member 7 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR11N1P Gene

olfactory g>receptorg>, family 11, subfamily N, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

PLA2R1 Gene

phospholipase A2 g>receptorg> 1, 180kDa

This g>gg>ene represents a phospholipase A2 g>receptorg>. The encoded protein likely exists as both a transmembrane form and a soluble form. The transmembrane g>receptorg> may play a role in clearance of phospholipase A2, thereby inhibiting>gg> its action. Polymorphisms at this locus have been associated with susceptibility to idiopathic membranous nephropathy. Alternatively spliced transcript variants encoding>gg> different isoforms have been identified.[provided by RefSeq, Sep 2010]

LOC100418657 Gene

olfactory g>receptorg>, family 2, subfamily g>Gg>, member 6 pseudog>gg>ene

OR52H2P Gene

olfactory g>receptorg>, family 52, subfamily H, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5AU1 Gene

olfactory g>receptorg>, family 5, subfamily AU, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR13J1 Gene

olfactory g>receptorg>, family 13, subfamily J, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R92P Gene

vomeronasal 1 g>receptorg> 92 pseudog>gg>ene

OR2U1P Gene

olfactory g>receptorg>, family 2, subfamily U, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

EDA2R Gene

ectodysplasin A2 g>receptorg>

The protein encoded by this g>gg>ene is a type III transmembrane protein of the TNFR (tumor necrosis factor g>receptorg>) superfamily, and contains cysteine-rich repeats and a sing>gg>le transmembrane domain. This protein binds to the EDA-A2 isoform of ectodysplasin, which plays an important role in maintenance of hair and teeth. Alternatively spliced transcript variants encodes distinct protein isoforms. [provided by RefSeq, Apr 2016]

RARg>Gg> Gene

retinoic acid g>receptorg>, g>gg>amma

This g>gg>ene encodes a retinoic acid g>receptorg> that belong>gg>s to the nuclear hormone g>receptorg> family. Retinoic acid g>receptorg>s (RARs) act as lig>gg>and-dependent transcriptional reg>gg>ulators. When bound to lig>gg>ands, RARs activate transcription by binding>gg> as heterodimers to the retinoic acid response elements (RARE) found in the promoter reg>gg>ions of the targ>gg>et g>gg>enes. In their unbound form, RARs repress transcription of their targ>gg>et g>gg>enes. RARs are involved in various biolog>gg>ical processes, including>gg> limb bud development, skeletal g>gg>rowth, and matrix homeostasis. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Aug>gg> 2011]

OR5BP1P Gene

olfactory g>receptorg>, family 5, subfamily BP, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

NPY4R Gene

neuropeptide Y g>receptorg> Y4

Enables pancreatic polypeptide g>receptorg> activity and peptide hormone binding>gg> activity. Involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway. Located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR7E90P Gene

olfactory g>receptorg>, family 7, subfamily E, member 90 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

g>Gg>ABRB1 Gene

g>gg>amma-aminobutyric acid (g>Gg>ABA) A g>receptorg>, beta 1

The g>gg>amma-aminobutyric acid (g>Gg>ABA) A g>receptorg> is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This g>gg>ene encodes g>Gg>ABA A g>receptorg>, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of g>gg>enes encoding>gg> alpha 4, alpha 2 and g>gg>amma 1 subunits of the g>Gg>ABA A g>receptorg>. Alteration of this g>gg>ene is implicated in the pathog>gg>enetics of schizophrenia. [provided by RefSeq, Jul 2008]

g>Gg>ABRB3 Gene

g>gg>amma-aminobutyric acid (g>Gg>ABA) A g>receptorg>, beta 3

This g>gg>ene encodes a member of the lig>gg>and-g>gg>ated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the g>receptorg> for g>gg>amma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This g>gg>ene is located on the long>gg> arm of chromosome 15 in a cluster with two other g>gg>enes encoding>gg> related subunits of the family. This g>gg>ene may be associated with the pathog>gg>enesis of several disorders including>gg> Ang>gg>elman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been described. [provided by RefSeq, Jul 2013]

OPRK1 Gene

opioid g>receptorg>, kappa 1

This g>gg>ene encodes an opioid g>receptorg>, which is a member of the 7 transmembrane-spanning>gg> g>Gg> g>protein-coupledg> g>receptorg> family. It functions as a g>receptorg> for endog>gg>enous lig>gg>ands, as well as a g>receptorg> for various synthetic opioids. Lig>gg>and binding>gg> results in inhibition of adenylate cyclase activity and neurotransmitter release. This opioid g>receptorg> plays a role in the perception of pain and mediating>gg> the hypolocomotor, analg>gg>esic and aversive actions of synthetic opioids. Variations in this g>gg>ene have also been associated with alcohol dependence and opiate addiction. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. A recent study provided evidence for translational readthroug>gg>h in this g>gg>ene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]

OR56A4 Gene

olfactory g>receptorg>, family 56, subfamily A, member 4

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR56A3 Gene

olfactory g>receptorg>, family 56, subfamily A, member 3

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR56A1 Gene

olfactory g>receptorg>, family 56, subfamily A, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10D1P Gene

olfactory g>receptorg>, family 10, subfamily D, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10R1P Gene

olfactory g>receptorg>, family 10, subfamily R, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OXg>Gg>R1 Gene

oxog>gg>lutarate (alpha-ketog>gg>lutarate) g>receptorg> 1

This g>gg>ene encodes a g>Gg> g>protein-coupledg> g>receptorg> (g>Gg>PCR) that belong>gg>s to the oxog>gg>lutarate g>receptorg> family within the g>Gg>PCR superfamily. The encoded protein is activated by the citric acid intermediate, oxog>gg>lutarate, as well as several cysteinyl leukotrienes, including>gg> leukotrienes E4, C4 and D4, which are implicated in many inflammatory disorders. In mice, a knock-out of this g>gg>ene leads to middle ear inflammation, chang>gg>es in the mucosal epithelium, and an increase in fluid behind the eardrum, and is associated with hearing>gg> loss. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Oct 2016]

TRAJ16 Gene

T cell g>receptorg> alpha joining>gg> 16

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ17 Gene

T cell g>receptorg> alpha joining>gg> 17

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ14 Gene

T cell g>receptorg> alpha joining>gg> 14

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ15 Gene

T cell g>receptorg> alpha joining>gg> 15

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ12 Gene

T cell g>receptorg> alpha joining>gg> 12

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ13 Gene

T cell g>receptorg> alpha joining>gg> 13

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ10 Gene

T cell g>receptorg> alpha joining>gg> 10

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ11 Gene

T cell g>receptorg> alpha joining>gg> 11

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ18 Gene

T cell g>receptorg> alpha joining>gg> 18

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ19 Gene

T cell g>receptorg> alpha joining>gg> 19 (non-functional)

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

OR10J4 Gene

olfactory g>receptorg>, family 10, subfamily J, member 4 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]

OR10J5 Gene

olfactory g>receptorg>, family 10, subfamily J, member 5

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10J1 Gene

olfactory g>receptorg>, family 10, subfamily J, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10J3 Gene

olfactory g>receptorg>, family 10, subfamily J, member 3

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This g>gg>ene is considered a pseudog>gg>ene because the encoded protein is truncated and missing>gg> the last transmembrane domain in several mammals.[provided by RefSeq, Jun 2021]

g>Gg>RIN1 Gene

g>gg>lutamate g>receptorg>, ionotropic, N-methyl D-aspartate 1

The protein encoded by this g>gg>ene is a critical subunit of N-methyl-D-aspartate g>receptorg>s, members of the g>gg>lutamate g>receptorg> channel superfamily which are heteromeric protein complexes with multiple subunits arrang>gg>ed to form a lig>gg>and-g>gg>ated ion channel. These subunits play a key role in the plasticity of synapses, which is believed to underlie memory and learning>gg>. Cell-specific factors are thoug>gg>ht to control expression of different isoforms, possibly contributing>gg> to the functional diversity of the subunits. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]

LOC100421880 Gene

olfactory g>receptorg>, family 2, subfamily B, member 2 pseudog>gg>ene

LOC100421887 Gene

olfactory g>receptorg>, family 2, subfamily W, member 3 pseudog>gg>ene

LOC100421885 Gene

olfactory g>receptorg>, family 2, subfamily W, member 1 pseudog>gg>ene

LOC100418675 Gene

olfactory g>receptorg>, family 2, subfamily B, member 2 pseudog>gg>ene

LOC100418674 Gene

olfactory g>receptorg>, family 2, subfamily W, member 1 pseudog>gg>ene

LOC100418676 Gene

olfactory g>receptorg>, family 2, subfamily B, member 6 pseudog>gg>ene

OR6P1 Gene

olfactory g>receptorg>, family 6, subfamily P, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R76P Gene

vomeronasal 1 g>receptorg> 76 pseudog>gg>ene

OR7E122P Gene

olfactory g>receptorg>, family 7, subfamily E, member 122 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4A19P Gene

olfactory g>receptorg>, family 4, subfamily A, member 19 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

APLNR Gene

apelin g>receptorg>

This g>gg>ene encodes a member of the g>Gg> g>protein-coupledg> g>receptorg> g>gg>ene family. The encoded protein is related to the ang>gg>iotensin g>receptorg>, but is actually an apelin g>receptorg> that inhibits adenylate cyclase activity and plays a counter-reg>gg>ulatory role ag>gg>ainst the pressure action of ang>gg>iotensin II by exerting>gg> hypertensive effect. It functions in the cardiovascular and central nervous systems, in g>gg>lucose metabolism, in embryonic and tumor ang>gg>iog>gg>enesis and as a human immunodeficiency virus (HIV-1) cog>receptorg>. Two transcript variants resulting>gg> from alternative splicing>gg> have been identified. [provided by RefSeq, Jul 2009]

KIR2DS5 Gene

killer cell immunog>gg>lobulin-like g>receptorg>, two domains, short cytoplasmic tail, 5

Killer cell immunog>gg>lobulin-like g>receptorg>s (KIRs) are transmembrane g>gg>lycoproteins expressed by natural killer cells and subsets of T cells. The KIR g>gg>enes are polymorphic and hig>gg>hly homolog>gg>ous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte g>receptorg> complex (LRC). The g>gg>ene content of the KIR g>gg>ene cluster varies among>gg> haplotypes, althoug>gg>h several `framework` g>gg>enes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunog>gg>lobulin domains (2D or 3D) and by whether they have a long>gg> (L) or short (S) cytoplasmic domain. KIR proteins with the long>gg> cytoplasmic domain transduce inhibitory sig>gg>nals upon lig>gg>and binding>gg> via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding>gg> protein to transduce activating>gg> sig>gg>nals. The lig>gg>ands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thoug>gg>ht to play an important role in reg>gg>ulation of the immune response. [provided by RefSeq, Jul 2008]

1060P11.3 Gene

killer cell immunog>gg>lobulin-like g>receptorg>, three domains, pseudog>gg>ene

KIR2DS2 Gene

killer cell immunog>gg>lobulin-like g>receptorg>, two domains, short cytoplasmic tail, 2

Killer cell immunog>gg>lobulin-like g>receptorg>s (KIRs) are transmembrane g>gg>lycoproteins expressed by natural killer cells and subsets of T cells. The KIR g>gg>enes are polymorphic and hig>gg>hly homolog>gg>ous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte g>receptorg> complex (LRC). The g>gg>ene content of the KIR g>gg>ene cluster varies among>gg> haplotypes, althoug>gg>h several `framework` g>gg>enes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunog>gg>lobulin domains (2D or 3D) and by whether they have a long>gg> (L) or short (S) cytoplasmic domain. KIR proteins with the long>gg> cytoplasmic domain transduce inhibitory sig>gg>nals upon lig>gg>and binding>gg> via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding>gg> protein to transduce activating>gg> sig>gg>nals. The lig>gg>ands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thoug>gg>ht to play an important role in reg>gg>ulation of the immune response. This g>gg>ene represents a haplotype-specific family member that encodes a protein with a short cytoplasmic tail. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Apr 2014]

LOC100422604 Gene

leukocyte immunog>gg>lobulin-like g>receptorg>, subfamily A (with TM domain), member 2 pseudog>gg>ene

IL9RP1 Gene

interleukin 9 g>receptorg> pseudog>gg>ene 1

IL9RP2 Gene

interleukin 9 g>receptorg> pseudog>gg>ene 2

IL9RP3 Gene

interleukin 9 g>receptorg> pseudog>gg>ene 3

CSF2RB Gene

colony stimulating>gg> factor 2 g>receptorg>, beta, low-affinity (g>gg>ranulocyte-macrophag>gg>e)

The protein encoded by this g>gg>ene is the common beta chain of the hig>gg>h affinity g>receptorg> for IL-3, IL-5 and CSF. Defects in this g>gg>ene have been reported to be associated with protein alveolar proteinosis (PAP). [provided by RefSeq, Jul 2008]

CSF2RA Gene

colony stimulating>gg> factor 2 g>receptorg>, alpha, low-affinity (g>gg>ranulocyte-macrophag>gg>e)

The protein encoded by this g>gg>ene is the alpha subunit of the heterodimeric g>receptorg> for colony stimulating>gg> factor 2, a cytokine which controls the production, differentiation, and function of g>gg>ranulocytes and macrophag>gg>es. The encoded protein is a member of the cytokine family of g>receptorg>s. This g>gg>ene is found in the pseudoautosomal reg>gg>ion (PAR) of the X and Y chromosomes. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene, with some of the isoforms being>gg> membrane-bound and others being>gg> soluble. [provided by RefSeq, Jul 2008]

OR8U9 Gene

olfactory g>receptorg>, family 8, subfamily U, member 9

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR8U8 Gene

olfactory g>receptorg>, family 8, subfamily U, member 8

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

NRBF2P4 Gene

nuclear g>receptorg> binding>gg> factor 2 pseudog>gg>ene 4

OR8U1 Gene

olfactory g>receptorg>, family 8, subfamily U, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR51R1P Gene

olfactory g>receptorg>, family 51, subfamily R, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

CALCRL Gene

calcitonin g>receptorg>-like

Enables adrenomedullin binding>gg> activity; adrenomedullin g>receptorg> activity; and calcitonin g>gg>ene-related peptide g>receptorg> activity. Involved in several processes, including>gg> g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway; cellular response to sucrose stimulus; and g>receptorg> internalization. Located in several cellular components, including>gg> endoplasmic reticulum; endosome; and lysosome. Part of Cg>Gg>RP g>receptorg> complex and adrenomedullin g>receptorg> complex. Implicated in hereditary lymphedema. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OLR1 Gene

oxidized low density lipoprotein (lectin-like) g>receptorg> 1

This g>gg>ene encodes a low density lipoprotein g>receptorg> that belong>gg>s to the C-type lectin superfamily. This g>gg>ene is reg>gg>ulated throug>gg>h the cyclic AMP sig>gg>naling>gg> pathway. The encoded protein binds, internalizes and deg>gg>rades oxidized low-density lipoprotein. This protein may be involved in the reg>gg>ulation of Fas-induced apoptosis. This protein may play a role as a scaveng>gg>er g>receptorg>. Mutations of this g>gg>ene have been associated with atherosclerosis, risk of myocardial infarction, and may modify the risk of Alzheimer's disease. Alternate splicing>gg> results in multiple transcript variants.[provided by RefSeq, Feb 2010]

Og>Gg>FRL1 Gene

opioid g>gg>rowth factor g>receptorg>-like 1

Predicted to enable opioid g>gg>rowth factor g>receptorg> activity. Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

IL4R Gene

interleukin 4 g>receptorg>

This g>gg>ene encodes the alpha chain of the interleukin-4 g>receptorg>, a type I transmembrane protein that can bind interleukin 4 and interleukin 13 to reg>gg>ulate Ig>gg>E production. The encoded protein also can bind interleukin 4 to promote differentiation of Th2 cells. A soluble form of the encoded protein can be produced by proteolysis of the membrane-bound protein, and this soluble form can inhibit IL4-mediated cell proliferation and IL5 upreg>gg>ulation by T-cells. Allelic variations in this g>gg>ene have been associated with atopy, a condition that can manifest itself as allerg>gg>ic rhinitis, sinusitus, asthma, or eczema. Polymorphisms in this g>gg>ene are also associated with resistance to human immunodeficiency virus type-1 infection. Alternate splicing>gg> results in multiple transcript variants. [provided by RefSeq, Apr 2012]

LOC100421965 Gene

olfactory g>receptorg>, family 5, subfamily R, member 1 pseudog>gg>ene

LOC100421964 Gene

olfactory g>receptorg>, family 9, subfamily g>Gg>, member 9 pseudog>gg>ene

LOC100421967 Gene

olfactory g>receptorg>, family 9, subfamily I, member 1 pseudog>gg>ene

LOC100421961 Gene

olfactory g>receptorg>, family 8, subfamily I, member 2 pseudog>gg>ene

LOC100421960 Gene

olfactory g>receptorg>, family 8, subfamily J, member 3 pseudog>gg>ene

LOC100421963 Gene

olfactory g>receptorg>, family 5, subfamily M, member 3 pseudog>gg>ene

LOC100421968 Gene

olfactory g>receptorg>, family 5, subfamily B, member 3 pseudog>gg>ene

OR51H1 Gene

olfactory g>receptorg>, family 51, subfamily H, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN2R16P Gene

vomeronasal 2 g>receptorg> 16 pseudog>gg>ene

OR7E55P Gene

olfactory g>receptorg>, family 7, subfamily E, member 55 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR51V1 Gene

olfactory g>receptorg>, family 51, subfamily V, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LDLR Gene

low density lipoprotein g>receptorg>

The low density lipoprotein g>receptorg> (LDLR) g>gg>ene family consists of cell surface proteins involved in g>receptorg>-mediated endocytosis of specific lig>gg>ands. The encoded protein is normally bound at the cell membrane, where it binds low density lipoprotein/cholesterol and is taken into the cell. Lysosomes release the cholesterol, which is made available for repression of microsomal enzyme 3-hydroxy-3-methylg>gg>lutaryl coenzyme A (HMg>Gg> CoA) reductase, the rate-limiting>gg> step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this g>gg>ene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing>gg> results in multiple transcript variants.[provided by RefSeq, May 2022]

OR2A41P Gene

olfactory g>receptorg>, family 2, subfamily A, member 41 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR52L1 Gene

olfactory g>receptorg>, family 52, subfamily L, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR8B9P Gene

olfactory g>receptorg>, family 8, subfamily B, member 9 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRBJ2-2P Gene

T cell g>receptorg> beta joining>gg> 2-2P (non-functional)

OR5T1 Gene

olfactory g>receptorg>, family 5, subfamily T, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5T3 Gene

olfactory g>receptorg>, family 5, subfamily T, member 3

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5T2 Gene

olfactory g>receptorg>, family 5, subfamily T, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC105369446 Gene

mitochondrial import g>receptorg> subunit TOM20 homolog>gg> pseudog>gg>ene

TRBV11-3 Gene

T cell g>receptorg> beta variable 11-3

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV11-1 Gene

T cell g>receptorg> beta variable 11-1

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

IL17REL Gene

interleukin 17 g>receptorg> E-like

Predicted to enable interleukin-17 g>receptorg> activity. Predicted to be involved in cytokine-mediated sig>gg>naling>gg> pathway. Predicted to be located in extracellular reg>gg>ion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FLVCR2 Gene

feline leukemia virus subg>gg>roup C cellular g>receptorg> family, member 2

This g>gg>ene encodes a member of the major facilitator superfamily. The encoded transmembrane protein is a calcium transporter. Unlike the related protein feline leukemia virus subg>gg>roup C g>receptorg> 1, the protein encoded by this locus does not bind to feline leukemia virus subg>gg>roup C envelope protein. The encoded protein may play a role in development of brain vascular endothelial cells, as mutations at this locus have been associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Aug>gg> 2010]

FLVCR1 Gene

feline leukemia virus subg>gg>roup C cellular g>receptorg> 1

This g>gg>ene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein is a heme transporter that may play a critical role in erythropoiesis by protecting>gg> developing>gg> erythroid cells from heme toxicity. This g>gg>ene may play a role in posterior column ataxia with retinitis pig>gg>mentosa and the hematolog>gg>ical disorder Diamond-Blackfan syndrome. [provided by RefSeq, Jan 2011]

LOC650293 Gene

seven transmembrane helix g>receptorg>

INSR Gene

insulin g>receptorg>

This g>gg>ene encodes a member of the g>receptorg> tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to g>gg>enerate alpha and beta subunits that form a heterotetrameric g>receptorg>. Binding>gg> of insulin or other lig>gg>ands to this g>receptorg> activates the insulin sig>gg>naling>gg> pathway, which reg>gg>ulates g>gg>lucose uptake and release, as well as the synthesis and storag>gg>e of carbohydrates, lipids and protein. Mutations in this g>gg>ene underlie the inherited severe insulin resistance syndromes including>gg> type A insulin resistance syndrome, Donohue syndrome and Rabson-Mendenhall syndrome. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Oct 2015]

OR51C1P Gene

olfactory g>receptorg>, family 51, subfamily C, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5M13P Gene

olfactory g>receptorg>, family 5, subfamily M, member 13 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

ADRBK1 Gene

adrenerg>gg>ic, beta, g>receptorg> kinase 1

This g>gg>ene encodes a member of the g>Gg> g>protein-coupledg> g>receptorg> kinase family of proteins. The encoded protein phosphorylates the beta-adrenerg>gg>ic g>receptorg> as well as a wide rang>gg>e of other substrates including>gg> non-g>Gg>PCR cell surface g>receptorg>s, and cytoskeletal, mitochondrial, and transcription factor proteins. Data from rodent models supports a role for this g>gg>ene in embryonic development, heart function and metabolism. Elevated expression of this g>gg>ene has been observed in human patients with heart failure and Alzheimer's disease. [provided by RefSeq, Sep 2017]

ADRBK2 Gene

adrenerg>gg>ic, beta, g>receptorg> kinase 2

The beta-adrenerg>gg>ic g>receptorg> kinase specifically phosphorylates the ag>gg>onist-occupied form of the beta-adrenerg>gg>ic and related g>Gg> g>protein-coupledg> g>receptorg>s. Overall, the beta adrenerg>gg>ic g>receptorg> kinase 2 has 85% amino acid similarity with beta adrenerg>gg>ic g>receptorg> kinase 1, with the protein kinase catalytic domain having>gg> 95% similarity. These data sug>gg>g>gg>est the existence of a family of g>receptorg> kinases which may serve broadly to reg>gg>ulate g>receptorg> function. [provided by RefSeq, Jul 2008]

LOC100422046 Gene

olfactory g>receptorg>, family 7, subfamily E, member 24 pseudog>gg>ene

LOC100422045 Gene

olfactory g>receptorg>, family 7, subfamily E, member 24 pseudog>gg>ene

C1DP2 Gene

C1D nuclear g>receptorg> corepressor pseudog>gg>ene 2

DEAR Gene

dual endothelin-1(VEg>Gg>Fsp)/ang>gg>iotensin II g>receptorg> pseudog>gg>ene

Enables endothelin g>receptorg> activity and vascular endothelial g>gg>rowth factor binding>gg> activity. Involved in endothelin g>receptorg> sig>gg>naling>gg> pathway and vascular endothelial g>gg>rowth factor sig>gg>naling>gg> pathway. Located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR5P4P Gene

olfactory g>receptorg>, family 5, subfamily P, member 4 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TBXA1R Gene

thromboxane A1 g>receptorg>

EDNRA Gene

endothelin g>receptorg> type A

This g>gg>ene encodes the g>receptorg> for endothelin-1, a peptide that plays a role in potent and long>gg>-lasting>gg> vasoconstriction. This g>receptorg> associates with g>gg>uanine-nucleotide-binding>gg> (g>Gg>) proteins, and this coupling>gg> activates a phosphatidylinositol-calcium second messeng>gg>er system. Polymorphisms in this g>gg>ene have been linked to mig>gg>raine headache resistance. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Oct 2009]

EDNRB Gene

endothelin g>receptorg> type B

The protein encoded by this g>gg>ene is a g>Gg> g>protein-coupledg> g>receptorg> which activates a phosphatidylinositol-calcium second messeng>gg>er system. Its lig>gg>and, endothelin, consists of a family of three potent vasoactive peptides: ET1, ET2, and ET3. Studies sug>gg>g>gg>est that the multig>gg>enic disorder, Hirschsprung>gg> disease type 2, is due to mutations in the endothelin g>receptorg> type B g>gg>ene. Alternative splicing>gg> and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]

TRAV20 Gene

T cell g>receptorg> alpha variable 20

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

NR3C1P1 Gene

nuclear g>receptorg> subfamily 3, g>gg>roup C, member 1 pseudog>gg>ene 1

LOC100421894 Gene

exportin, tRNA (nuclear export g>receptorg> for tRNAs) pseudog>gg>ene

LOC100420339 Gene

opioid g>gg>rowth factor g>receptorg> pseudog>gg>ene

OR2P1P Gene

olfactory g>receptorg>, family 2, subfamily P, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR52J2P Gene

olfactory g>receptorg>, family 52, subfamily J, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRIP6 Gene

thyroid hormone g>receptorg> interactor 6

This g>gg>ene is a member of the zyxin family and encodes a protein with three LIM zinc-binding>gg> domains. This protein localizes to focal adhesion sites and along>gg> actin stress fibers. Recruitment of this protein to the plasma membrane occurs in a lysophosphatidic acid (LPA)-dependent manner and it reg>gg>ulates LPA-induced cell mig>gg>ration. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]

BMX Gene

BMX non-g>receptorg> tyrosine kinase

This g>gg>ene encodes a non-g>receptorg> tyrosine kinase belong>gg>ing>gg> to the Tec kinase family. The protein contains a PH-like domain, which mediates membrane targ>gg>eting>gg> by binding>gg> to phosphatidylinositol 3,4,5-triphosphate (PIP3), and a SH2 domain that binds to tyrosine-phosphorylated proteins and functions in sig>gg>nal transduction. The protein is implicated in several sig>gg>nal transduction pathways including>gg> the Stat pathway, and reg>gg>ulates differentiation and tumorig>gg>enicity of several types of cancer cells. Alternatively spliced transcript variants have been found for this g>gg>ene. [provided by RefSeq, Mar 2016]

OR5B17 Gene

olfactory g>receptorg>, family 5, subfamily B, member 17

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4g>Gg>2P Gene

olfactory g>receptorg>, family 4, subfamily g>Gg>, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7E155P Gene

olfactory g>receptorg>, family 7, subfamily E, member 155 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR6X1 Gene

olfactory g>receptorg>, family 6, subfamily X, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4A11P Gene

olfactory g>receptorg>, family 4, subfamily A, member 11 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR6C75 Gene

olfactory g>receptorg>, family 6, subfamily C, member 75

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR6C74 Gene

olfactory g>receptorg>, family 6, subfamily C, member 74

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

NCR3Lg>Gg>1 Gene

natural killer cell cytotoxicity g>receptorg> 3 lig>gg>and 1

B7H6 belong>gg>s to the B7 family (see MIM 605402) and is selectively expressed on tumor cells. Interaction of B7H6 with NKp30 (NCR3; MIM 611550) results in natural killer (NK) cell activation and cytotoxicity (Brandt et al., 2009 [PubMed 19528259]).[supplied by OMIM, Jan 2011]

AXL Gene

AXL g>receptorg> tyrosine kinase

The protein encoded by this g>gg>ene is a member of the Tyro3-Axl-Mer (TAM) g>receptorg> tyrosine kinase subfamily. The encoded protein possesses an extracellular domain which is composed of two immunog>gg>lobulin-like motifs at the N-terminal, followed by two fibronectin type-III motifs. It transduces sig>gg>nals from the extracellular matrix into the cytoplasm by binding>gg> to the vitamin K-dependent protein g>gg>rowth arrest-specific 6 (g>Gg>as6). This g>gg>ene may be involved in several cellular functions including>gg> g>gg>rowth, mig>gg>ration, ag>gg>g>gg>reg>gg>ation and anti-inflammation in multiple cell types. The encoded protein acts as a host cell g>receptorg> for multiple viruses, including>gg> Marburg>gg>, Ebola and Lassa viruses and is a candidate g>receptorg> for the SARS-CoV2 virus. [provided by RefSeq, Sep 2021]

OR6C7P Gene

olfactory g>receptorg>, family 6, subfamily C, member 7 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

KIR3DL1 Gene

killer cell immunog>gg>lobulin-like g>receptorg>, three domains, long>gg> cytoplasmic tail, 1

Killer cell immunog>gg>lobulin-like g>receptorg>s (KIRs) are transmembrane g>gg>lycoproteins expressed by natural killer cells and subsets of T cells. The KIR g>gg>enes are polymorphic and hig>gg>hly homolog>gg>ous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte g>receptorg> complex (LRC). The g>gg>ene content of the KIR g>gg>ene cluster varies among>gg> haplotypes, althoug>gg>h several `framework` g>gg>enes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunog>gg>lobulin domains (2D or 3D) and by whether they have a long>gg> (L) or short (S) cytoplasmic domain. KIR proteins with the long>gg> cytoplasmic domain transduce inhibitory sig>gg>nals upon lig>gg>and binding>gg> via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding>gg> protein to transduce activating>gg> sig>gg>nals. The lig>gg>ands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thoug>gg>ht to play an important role in reg>gg>ulation of the immune response. [provided by RefSeq, Jul 2008]

KIR3DL2 Gene

killer cell immunog>gg>lobulin-like g>receptorg>, three domains, long>gg> cytoplasmic tail, 2

Killer cell immunog>gg>lobulin-like g>receptorg>s (KIRs) are transmembrane g>gg>lycoproteins expressed by natural killer cells and subsets of T cells. The KIR g>gg>enes are polymorphic and hig>gg>hly homolog>gg>ous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte g>receptorg> complex (LRC). The g>gg>ene content of the KIR g>gg>ene cluster varies among>gg> haplotypes, althoug>gg>h several `framework` g>gg>enes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunog>gg>lobulin domains (2D or 3D) and by whether they have a long>gg> (L) or short (S) cytoplasmic domain. KIR proteins with the long>gg> cytoplasmic domain transduce inhibitory sig>gg>nals upon lig>gg>and binding>gg> via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding>gg> protein to transduce activating>gg> sig>gg>nals. The lig>gg>ands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thoug>gg>ht to play an important role in reg>gg>ulation of the immune response. This g>gg>ene is one of the `framework` loci that is present on all haplotypes. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Jun 2011]

KIR3DL3 Gene

killer cell immunog>gg>lobulin-like g>receptorg>, three domains, long>gg> cytoplasmic tail, 3

Killer cell immunog>gg>lobulin-like g>receptorg>s (KIRs) are transmembrane g>gg>lycoproteins expressed by natural killer cells and subsets of T cells. The KIR g>gg>enes are polymorphic and hig>gg>hly homolog>gg>ous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte g>receptorg> complex (LRC). The g>gg>ene content of the KIR g>gg>ene cluster varies among>gg> haplotypes, althoug>gg>h several `framework` g>gg>enes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunog>gg>lobulin domains (2D or 3D) and by whether they have a long>gg> (L) or short (S) cytoplasmic domain. KIR proteins with the long>gg> cytoplasmic domain transduce inhibitory sig>gg>nals upon lig>gg>and binding>gg> via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding>gg> protein to transduce activating>gg> sig>gg>nals. The lig>gg>ands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thoug>gg>ht to play an important role in reg>gg>ulation of the immune response. This g>gg>ene is one of the `framework` loci that is present on all haplotypes. [provided by RefSeq, Jul 2008]

IL13RA2 Gene

interleukin 13 g>receptorg>, alpha 2

The protein encoded by this g>gg>ene is closely related to Il13RA1, a subuint of the interleukin 13 g>receptorg> complex. This protein binds IL13 with hig>gg>h affinity, but lacks cytoplasmic domain, and does not appear to function as a sig>gg>nal mediator. It is reported to play a role in the internalization of IL13. [provided by RefSeq, Jul 2008]

IL13RA1 Gene

interleukin 13 g>receptorg>, alpha 1

The protein encoded by this g>gg>ene is a subunit of the interleukin 13 g>receptorg>. This subunit forms a g>receptorg> complex with IL4 g>receptorg> alpha, a subunit shared by IL13 and IL4 g>receptorg>s. This subunit serves as a primary IL13-binding>gg> subunit of the IL13 g>receptorg>, and may also be a component of IL4 g>receptorg>s. This protein has been shown to bind tyrosine kinase TYK2, and thus may mediate the sig>gg>naling>gg> processes that lead to the activation of JAK1, STAT3 and STAT6 induced by IL13 and IL4. [provided by RefSeq, Jul 2008]

SIg>Gg>MAR1 Gene

sig>gg>ma non-opioid intracellular g>receptorg> 1

This g>gg>ene encodes a g>receptorg> protein that interacts with a variety of psychotomimetic drug>gg>s, including>gg> cocaine and amphetamines. The g>receptorg> is believed to play an important role in the cellular functions of various tissues associated with the endocrine, immune, and nervous systems. As indicated by its previous name, opioid g>receptorg> sig>gg>ma 1 (OPRS1), the product of this g>gg>ene was erroneously thoug>gg>ht to function as an opioid g>receptorg>; it is now thoug>gg>ht to be a non-opioid g>receptorg>. Mutations in this g>gg>ene has been associated with juvenile amyotrophic lateral sclerosis 16. Alternative splicing>gg> of this g>gg>ene results in transcript variants encoding>gg> distinct isoforms. [provided by RefSeq, Aug>gg> 2013]

OR2T10 Gene

olfactory g>receptorg>, family 2, subfamily T, member 10

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2T11 Gene

olfactory g>receptorg>, family 2, subfamily T, member 11 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]

OR2T12 Gene

olfactory g>receptorg>, family 2, subfamily T, member 12

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R84P Gene

vomeronasal 1 g>receptorg> 84 pseudog>gg>ene

OR7g>Gg>2 Gene

olfactory g>receptorg>, family 7, subfamily g>Gg>, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7g>Gg>3 Gene

olfactory g>receptorg>, family 7, subfamily g>Gg>, member 3

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7g>Gg>1 Gene

olfactory g>receptorg>, family 7, subfamily g>Gg>, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5BQ1P Gene

olfactory g>receptorg>, family 5, subfamily BQ, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

ZP1 Gene

zona pellucida g>gg>lycoprotein 1 (sperm g>receptorg>)

The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four g>gg>lycoproteins with various functions during>gg> fertilization and preimplantation development. The protein encoded by this g>gg>ene ensures the structural integ>gg>rity of the zona pellucida. Mutations in this g>gg>ene are a cause of oocyte maturation defect and infertility. [provided by RefSeq, May 2014]

ZP3 Gene

zona pellucida g>gg>lycoprotein 3 (sperm g>receptorg>)

The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four g>gg>lycoproteins with various functions during>gg> fertilization and preimplantation development. The protein encoded by this g>gg>ene is a structural component of the zona pellucida and functions in primary binding>gg> and induction of the sperm acrosome reaction. The nascent protein contains a N-terminal sig>gg>nal peptide sequence, a conserved ZP domain, a C-terminal consensus furin cleavag>gg>e site, and a transmembrane domain. It is hypothesized that furin cleavag>gg>e results in release of the mature protein from the plasma membrane for subsequent incorporation into the zona pellucida matrix. However, the requirement for furin cleavag>gg>e in this process remains controversial based on mouse studies. A variation in the last exon of this g>gg>ene has previously served as the basis for an additional ZP3 locus; however, sequence and literature review reveals that there is only one full-leng>gg>th ZP3 locus in the human g>gg>enome. Another locus encoding>gg> a bipartite transcript desig>gg>nated POMZP3 contains a duplication of the last four exons of ZP3, including>gg> the above described variation, and maps closely to this g>gg>ene. [provided by RefSeq, Jul 2008]

ZP2 Gene

zona pellucida g>gg>lycoprotein 2 (sperm g>receptorg>)

The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed of three g>gg>lycoproteins with various functions during>gg> fertilization and preimplantation development. The g>gg>lycosylated mature peptide is one of the structural components of the zona pellucida and functions in secondary binding>gg> and penetration of acrosome-reacted spermatozoa. Female mice lacking>gg> this g>gg>ene do not form a stable zona matrix and are sterile. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Feb 2014]

OR9Q2 Gene

olfactory g>receptorg>, family 9, subfamily Q, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR9Q1 Gene

olfactory g>receptorg>, family 9, subfamily Q, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4R3P Gene

olfactory g>receptorg>, family 4, subfamily R, member 3 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4A2P Gene

olfactory g>receptorg>, family 4, subfamily A, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

P2RX7 Gene

purinerg>gg>ic g>receptorg> P2X, lig>gg>and g>gg>ated ion channel, 7

The product of this g>gg>ene belong>gg>s to the family of purinoceptors for ATP. This g>receptorg> functions as a lig>gg>and-g>gg>ated ion channel and is responsible for ATP-dependent lysis of macrophag>gg>es throug>gg>h the formation of membrane pores permeable to larg>gg>e molecules. Activation of this nuclear g>receptorg> by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to chang>gg>es in g>gg>ene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010]

MET Gene

MET proto-oncog>gg>ene, g>receptorg> tyrosine kinase

This g>gg>ene encodes a member of the g>receptorg> tyrosine kinase family of proteins and the product of the proto-oncog>gg>ene MET. The encoded preproprotein is proteolytically processed to g>gg>enerate alpha and beta subunits that are linked via disulfide bonds to form the mature g>receptorg>. Further processing>gg> of the beta subunit results in the formation of the M10 peptide, which has been shown to reduce lung>gg> fibrosis. Binding>gg> of its lig>gg>and, hepatocyte g>gg>rowth factor, induces dimerization and activation of the g>receptorg>, which plays a role in cellular survival, embryog>gg>enesis, and cellular mig>gg>ration and invasion. Mutations in this g>gg>ene are associated with papillary renal cell carcinoma, hepatocellular carcinoma, and various head and neck cancers. Amplification and overexpression of this g>gg>ene are also associated with multiple human cancers. [provided by RefSeq, May 2016]

LILRP1 Gene

leukocyte immunog>gg>lobulin-like g>receptorg> pseudog>gg>ene 1

LILRP2 Gene

leukocyte immunog>gg>lobulin-like g>receptorg> pseudog>gg>ene 2

TRBV24-1 Gene

T cell g>receptorg> beta variable 24-1

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR52T1P Gene

olfactory g>receptorg>, family 52, subfamily T, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR8R1P Gene

olfactory g>receptorg>, family 8, subfamily R, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10AE1P Gene

olfactory g>receptorg>, family 10, subfamily AE, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

g>Gg>ABRQ Gene

g>gg>amma-aminobutyric acid (g>Gg>ABA) A g>receptorg>, theta

The g>gg>amma-aminobutyric acid (g>Gg>ABA) A g>receptorg> is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This g>gg>ene encodes the theta subunit of the g>Gg>ABA A g>receptorg>. The g>gg>ene is mapped to chromosome Xq28 in a cluster of g>gg>enes including>gg> those that encode the alpha 3 and epsilon subunits of the g>Gg>ABA A g>receptorg>. [provided by RefSeq, Jul 2017]

g>Gg>ABRP Gene

g>gg>amma-aminobutyric acid (g>Gg>ABA) A g>receptorg>, pi

The g>gg>amma-aminobutyric acid (g>Gg>ABA) A g>receptorg> is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. The subunit encoded by this g>gg>ene is expressed in several non-neuronal tissues including>gg> the uterus and ovaries. This subunit can assemble with known g>Gg>ABA A g>receptorg> subunits, and the presence of this subunit alters the sensitivity of recombinant g>receptorg>s to modulatory ag>gg>ents such as preg>gg>nanolone. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, May 2014]

g>Gg>ABRE Gene

g>gg>amma-aminobutyric acid (g>Gg>ABA) A g>receptorg>, epsilon

The product of this g>gg>ene belong>gg>s to the lig>gg>and-g>gg>ated ionic channel (TC 1.A.9) family. It encodes the g>gg>amma-aminobutyric acid (g>Gg>ABA) A g>receptorg> which is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This g>gg>ene encodes an epsilon subunit. It is mapped to chromosome Xq28 in a cluster comprised of g>gg>enes encoding>gg> alpha 3, beta 4 and theta subunits of the same g>receptorg>. Alternatively spliced transcript variants have been identified, but only one is thoug>gg>ht to encode a protein. [provided by RefSeq, Oct 2008]

g>Gg>ABRD Gene

g>gg>amma-aminobutyric acid (g>Gg>ABA) A g>receptorg>, delta

g>Gg>amma-aminobutyric acid (g>Gg>ABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at g>Gg>ABA-A g>receptorg>s, which are lig>gg>and-g>gg>ated chloride channels. Chloride conductance of these channels can be modulated by ag>gg>ents such as benzodiazepines that bind to the g>Gg>ABA-A g>receptorg>. The g>Gg>ABA-A g>receptorg> is g>gg>enerally pentameric and there are five types of subunits: alpha, beta, g>gg>amma, delta, and rho. This g>gg>ene encodes the delta subunit. Mutations in this g>gg>ene have been associated with susceptibility to g>gg>eneralized epilepsy with febrile seizures, type 5. Alternatively spliced transcript variants have been described for this g>gg>ene, but their biolog>gg>ical validity has not been determined. [provided by RefSeq, Jul 2008]

Ng>Gg>FR Gene

nerve g>gg>rowth factor g>receptorg>

Nerve g>gg>rowth factor g>receptorg> contains an extracellular domain containing>gg> four 40-amino acid repeats with 6 cysteine residues at conserved positions followed by a serine/threonine-rich reg>gg>ion, a sing>gg>le transmembrane domain, and a 155-amino acid cytoplasmic domain. The cysteine-rich reg>gg>ion contains the nerve g>gg>rowth factor binding>gg> domain. [provided by RefSeq, Jul 2008]

LOC100418651 Gene

olfactory g>receptorg>, family 2, subfamily W, member 1 pseudog>gg>ene

LOC105369284 Gene

D(1B) dopamine g>receptorg>-like

OR3A1 Gene

olfactory g>receptorg>, family 3, subfamily A, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR3A2 Gene

olfactory g>receptorg>, family 3, subfamily A, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR3A3 Gene

olfactory g>receptorg>, family 3, subfamily A, member 3

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

g>Gg>RIA3 Gene

g>gg>lutamate g>receptorg>, ionotropic, AMPA 3

g>Gg>lutamate g>receptorg>s are the predominant excitatory neurotransmitter g>receptorg>s in the mammalian brain and are activated in a variety of normal neurophysiolog>gg>ic processes. These g>receptorg>s are heteromeric protein complexes composed of multiple subunits, arrang>gg>ed to form lig>gg>and-g>gg>ated ion channels. The classification of g>gg>lutamate g>receptorg>s is based on their activation by different pharmacolog>gg>ic ag>gg>onists. The subunit encoded by this g>gg>ene belong>gg>s to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive g>gg>lutamate g>receptorg>s, and is subject to RNA editing>gg> (Ag>Gg>A->g>Gg>g>Gg>A; R->g>Gg>). Alternative splicing>gg> at this locus results in different isoforms, which may vary in their sig>gg>nal transduction properties. [provided by RefSeq, Jul 2008]

OR8H1 Gene

olfactory g>receptorg>, family 8, subfamily H, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR8H2 Gene

olfactory g>receptorg>, family 8, subfamily H, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR8H3 Gene

olfactory g>receptorg>, family 8, subfamily H, member 3

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7H2P Gene

olfactory g>receptorg>, family 7, subfamily H, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

CHRFAM7A Gene

CHRNA7 (cholinerg>gg>ic g>receptorg>, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion

The nicotinic acetylcholine g>receptorg>s (nAChRs) are members of a superfamily of lig>gg>and-g>gg>ated ion channels that mediate fast sig>gg>nal transmission at synapses. The family member CHRNA7, which is located on chromosome 15 in a reg>gg>ion associated with several neuropsychiatric disorders, is partially duplicated and forms a hybrid with a novel g>gg>ene from the family with sequence similarity 7 (FAM7A). Alternative splicing>gg> has been observed, and two variants exist, for this hybrid g>gg>ene. The N-terminally truncated products predicted by the larg>gg>est open reading>gg> frames for each variant would lack the majority of the neurotransmitter-g>gg>ated ion-channel lig>gg>and binding>gg> domain but retain the transmembrane reg>gg>ion that forms the ion channel. Althoug>gg>h current evidence supports transcription of this hybrid g>gg>ene, translation of the nicotinic acetylcholine g>receptorg>-like protein-encoding>gg> open reading>gg> frames has not been confirmed. [provided by RefSeq, Jul 2008]

OR51P1P Gene

olfactory g>receptorg>, family 51, subfamily P, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R77P Gene

vomeronasal 1 g>receptorg> 77 pseudog>gg>ene

VN1R64P Gene

vomeronasal 1 g>receptorg> 64 pseudog>gg>ene

OR1F12 Gene

olfactory g>receptorg>, family 1, subfamily F, member 12

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R39P Gene

vomeronasal 1 g>receptorg> 39 pseudog>gg>ene

ACVR2A Gene

activin A g>receptorg>, type IIA

This g>gg>ene encodes a g>receptorg> that mediates the functions of activins, which are members of the transforming>gg> g>gg>rowth factor-beta (Tg>Gg>F-beta) superfamily involved in diverse biolog>gg>ical processes. The encoded protein is a transmembrane serine-threonine kinase g>receptorg> which mediates sig>gg>naling>gg> by forming>gg> heterodimeric complexes with various combinations of type I and type II g>receptorg>s and lig>gg>ands in a cell-specific manner. The encoded type II g>receptorg> is primarily involved in lig>gg>and-binding>gg> and includes an extracellular lig>gg>and-binding>gg> domain, a transmembrane domain and a cytoplasmic serine-threonine kinase domain. This g>gg>ene may be associated with susceptibility to preeclampsia, a preg>gg>nancy-related disease which can result in maternal and fetal morbidity and mortality. Alternative splicing>gg> results in multiple transcript variants of this g>gg>ene. [provided by RefSeq, Jun 2013]

ACVR2B Gene

activin A g>receptorg>, type IIB

Activins are dimeric g>gg>rowth and differentiation factors which belong>gg> to the transforming>gg> g>gg>rowth factor-beta (Tg>Gg>F-beta) superfamily of structurally related sig>gg>naling>gg> proteins. Activins sig>gg>nal throug>gg>h a heteromeric complex of g>receptorg> serine kinases which include at least two type I (I and IB) and two type II (II and IIB) g>receptorg>s. These g>receptorg>s are all transmembrane proteins, composed of a lig>gg>and-binding>gg> extracellular domain with cysteine-rich reg>gg>ion, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I g>receptorg>s are essential for sig>gg>naling>gg>; and type II g>receptorg>s are required for binding>gg> lig>gg>ands and for expression of type I g>receptorg>s. Type I and II g>receptorg>s form a stable complex after lig>gg>and binding>gg>, resulting>gg> in phosphorylation of type I g>receptorg>s by type II g>receptorg>s. Type II g>receptorg>s are considered to be constitutively active kinases. This g>gg>ene encodes activin A type IIB g>receptorg>, which displays a 3- to 4-fold hig>gg>her affinity for the lig>gg>and than activin A type II g>receptorg>. [provided by RefSeq, Jul 2008]

FRS3 Gene

fibroblast g>gg>rowth factor g>receptorg> substrate 3

This g>gg>ene encodes a substrate for the fibroblast g>gg>rowth factor g>receptorg>. The encoded protein is found in the peripheral plasma membrane and links fibroblast g>gg>rowth factor g>receptorg> stimulation to activators of Ras. The encoded protein down-reg>gg>ulates extracellular reg>gg>ulated kinase 2 throug>gg>h direct binding>gg>. [provided by RefSeq, Jul 2013]

FRS2 Gene

fibroblast g>gg>rowth factor g>receptorg> substrate 2

Enables fibroblast g>gg>rowth factor g>receptorg> binding>gg> activity and neurotrophin TRKA g>receptorg> binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of cardiac muscle cell differentiation. Acts upstream of or within fibroblast g>gg>rowth factor g>receptorg> sig>gg>naling>gg> pathway. Located in adherens junction. Biomarker of renal cell carcinoma. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR5L1 Gene

olfactory g>receptorg>, family 5, subfamily L, member 1 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]

OR5L2 Gene

olfactory g>receptorg>, family 5, subfamily L, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR9L1P Gene

olfactory g>receptorg>, family 9, subfamily L, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4B1 Gene

olfactory g>receptorg>, family 4, subfamily B, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

HCAR3 Gene

hydroxycarboxylic acid g>receptorg> 3

Predicted to enable g>Gg>TP binding>gg> activity; nicotinic acid g>receptorg> activity; and purinerg>gg>ic nucleotide g>receptorg> activity. Predicted to be involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway. Located in cell junction. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

HCAR2 Gene

hydroxycarboxylic acid g>receptorg> 2

Predicted to enable nicotinic acid g>receptorg> activity. Involved in neutrophil apoptotic process and positive reg>gg>ulation of neutrophil apoptotic process. Located in cell junction and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

HCAR1 Gene

hydroxycarboxylic acid g>receptorg> 1

g>Gg> g>protein-coupledg> g>receptorg>s (g>Gg>PCRs, or g>Gg>PRs), such as g>Gg>PR81, contain 7 transmembrane domains and transduce extracellular sig>gg>nals throug>gg>h heterotrimeric g>Gg> proteins.[supplied by OMIM, Feb 2005]

LOC102725035 Gene

leukocyte immunog>gg>lobulin-like g>receptorg> subfamily B member 3

OR4K16P Gene

olfactory g>receptorg>, family 4, subfamily K, member 16 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR14K1 Gene

olfactory g>receptorg>, family 14, subfamily K, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR1B1 Gene

olfactory g>receptorg>, family 1, subfamily B, member 1 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]

LSR Gene

lipolysis stimulated lipoprotein g>receptorg>

Predicted to be involved in several processes, including>gg> establishment of skin barrier; protein localization to tricellular tig>gg>ht junction; and tricellular tig>gg>ht junction assembly. Predicted to act upstream of or within maintenance of blood-brain barrier. Located in plasma membrane and tig>gg>ht junction. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

VN2R20P Gene

vomeronasal 2 g>receptorg> 20 pseudog>gg>ene

VN1R56P Gene

vomeronasal 1 g>receptorg> 56 pseudog>gg>ene

OR52B5P Gene

olfactory g>receptorg>, family 52, subfamily B, member 5 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R103P Gene

vomeronasal 1 g>receptorg> 103 pseudog>gg>ene

OR3A5P Gene

olfactory g>receptorg>, family 3, subfamily A, member 5 pseudog>gg>ene

PDg>Gg>FRB Gene

platelet-derived g>gg>rowth factor g>receptorg>, beta polypeptide

The protein encoded by this g>gg>ene is a cell surface tyrosine kinase g>receptorg> for members of the platelet-derived g>gg>rowth factor family. These g>gg>rowth factors are mitog>gg>ens for cells of mesenchymal orig>gg>in. The identity of the g>gg>rowth factor bound to a g>receptorg> monomer determines whether the functional g>receptorg> is a homodimer (PDg>Gg>FB or PDg>Gg>FD) or a heterodimer (PDg>Gg>FA and PDg>Gg>FB). This g>gg>ene is essential for normal development of the cardiovascular system and aids in rearrang>gg>ement of the actin cytoskeleton. This g>gg>ene is flanked on chromosome 5 by the g>gg>enes for g>gg>ranulocyte-macrophag>gg>e colony-stimulating>gg> factor and macrophag>gg>e-colony stimulating>gg> factor g>receptorg>; all three g>gg>enes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this g>gg>ene to that of the ETV6 g>gg>ene, results in chronic myeloproliferative disorder with eosinophilia. [provided by RefSeq, Aug>gg> 2017]

PDg>Gg>FRA Gene

platelet-derived g>gg>rowth factor g>receptorg>, alpha polypeptide

This g>gg>ene encodes a cell surface tyrosine kinase g>receptorg> for members of the platelet-derived g>gg>rowth factor family. These g>gg>rowth factors are mitog>gg>ens for cells of mesenchymal orig>gg>in. The identity of the g>gg>rowth factor bound to a g>receptorg> monomer determines whether the functional g>receptorg> is a homodimer or a heterodimer, composed of both platelet-derived g>gg>rowth factor g>receptorg> alpha and beta polypeptides. Studies sug>gg>g>gg>est that this g>gg>ene plays a role in org>gg>an development, wound healing>gg>, and tumor prog>gg>ression. Mutations in this g>gg>ene have been associated with idiopathic hypereosinophilic syndrome, somatic and familial g>gg>astrointestinal stromal tumors, and a variety of other cancers. [provided by RefSeq, Mar 2012]

PDg>Gg>FRL Gene

platelet-derived g>gg>rowth factor g>receptorg>-like

This g>gg>ene encodes a protein with sig>gg>nificant sequence similarity to the lig>gg>and binding>gg> domain of platelet-derived g>gg>rowth factor g>receptorg> beta. Mutations in this g>gg>ene, or deletion of a chromosomal seg>gg>ment containing>gg> this g>gg>ene, are associated with sporadic hepatocellular carcinomas, colorectal cancers, and non-small cell lung>gg> cancers. This sug>gg>g>gg>ests this g>gg>ene product may function as a tumor suppressor. [provided by RefSeq, Jul 2008]

OR13A1 Gene

olfactory g>receptorg>, family 13, subfamily A, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

F2R Gene

coag>gg>ulation factor II (thrombin) g>receptorg>

Coag>gg>ulation factor II g>receptorg> is a 7-transmembrane g>receptorg> involved in the reg>gg>ulation of thrombotic response. Proteolytic cleavag>gg>e leads to the activation of the g>receptorg>. F2R is a g>Gg>-protein coupled g>receptorg> family member. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Aug>gg> 2015]

NTSR2 Gene

neurotensin g>receptorg> 2

The protein encoded by this g>gg>ene belong>gg>s to the g>Gg> g>protein-coupledg> g>receptorg> family that activate a phosphatidylinositol-calcium second messeng>gg>er system. Binding>gg> and pharmacolog>gg>ical studies demonstrate that this g>receptorg> binds neurotensin as well as several other lig>gg>ands already described for neurotensin NT1 g>receptorg>. However, unlike NT1 g>receptorg>, this g>gg>ene recog>gg>nizes, with hig>gg>h affinity, levocabastine, a histamine H1 g>receptorg> antag>gg>onist previously shown to compete with neurotensin for low-affinity binding>gg> sites in brain. These activities sug>gg>g>gg>est that this g>receptorg> may be of physiolog>gg>ical importance and that a natural ag>gg>onist for the g>receptorg> may exist. [provided by RefSeq, Jul 2008]

NTSR1 Gene

neurotensin g>receptorg> 1 (hig>gg>h affinity)

Neurotensin g>receptorg> 1 belong>gg>s to the larg>gg>e superfamily of g>Gg>-protein coupled g>receptorg>s. NTSR1 mediates the multiple functions of neurotensin, such as hypotension, hyperg>gg>lycemia, hypothermia, antinociception, and reg>gg>ulation of intestinal motility and secretion. [provided by RefSeq, Jul 2008]

TRBV10-2 Gene

T cell g>receptorg> beta variable 10-2

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV10-3 Gene

T cell g>receptorg> beta variable 10-3

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV10-1 Gene

T cell g>receptorg> beta variable 10-1(g>gg>ene/pseudog>gg>ene)

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR11J6P Gene

olfactory g>receptorg>, family 11, subfamily J, member 6 pseudog>gg>ene

OR4D10 Gene

olfactory g>receptorg>, family 4, subfamily D, member 10

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4D11 Gene

olfactory g>receptorg>, family 4, subfamily D, member 11

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

HAVCR1P2 Gene

hepatitis A virus cellular g>receptorg> 1 pseudog>gg>ene 2

VN2R6P Gene

vomeronasal 2 g>receptorg> 6 pseudog>gg>ene

OR55B1P Gene

olfactory g>receptorg>, family 55, subfamily B, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4C48P Gene

olfactory g>receptorg>, family 4, subfamily C, member 48 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TREML5P Gene

trig>gg>g>gg>ering>gg> g>receptorg> expressed on myeloid cells-like 5, pseudog>gg>ene

FZD1 Gene

frizzled class g>receptorg> 1

Members of the 'frizzled' g>gg>ene family encode 7-transmembrane domain proteins that are g>receptorg>s for Wnt sig>gg>naling>gg> proteins. The FZD1 protein contains a sig>gg>nal peptide, a cysteine-rich domain in the N-terminal extracellular reg>gg>ion, 7 transmembrane domains, and a C-terminal PDZ domain-binding>gg> motif. The FZD1 transcript is expressed in various tissues. [provided by RefSeq, Jul 2008]

FZD2 Gene

frizzled class g>receptorg> 2

This intronless g>gg>ene is a member of the frizzled g>gg>ene family. Members of this family encode seven-transmembrane domain proteins that are g>receptorg>s for the wing>gg>less type MMTV integ>gg>ration site family of sig>gg>naling>gg> proteins. This g>gg>ene encodes a protein that is coupled to the beta-catenin canonical sig>gg>naling>gg> pathway. Competition between the wing>gg>less-type MMTV integ>gg>ration site family, member 3A and wing>gg>less-type MMTV integ>gg>ration site family, member 5A g>gg>ene products for binding>gg> of this protein is thoug>gg>ht to reg>gg>ulate the beta-catenin-dependent and -independent pathways. [provided by RefSeq, Dec 2010]

FZD3 Gene

frizzled class g>receptorg> 3

This g>gg>ene is a member of the frizzled g>gg>ene family. Members of this family encode seven-transmembrane domain proteins that are g>receptorg>s for the wing>gg>less type MMTV integ>gg>ration site family of sig>gg>naling>gg> proteins. Most frizzled g>receptorg>s are coupled to the beta-catenin canonical sig>gg>naling>gg> pathway. The function of this protein is unknown, althoug>gg>h it may play a role in mammalian hair follicle development. Alternative splicing>gg> results in multiple transcript variants. This g>gg>ene is a susceptibility locus for schizophrenia. [provided by RefSeq, Dec 2010]

FZD4 Gene

frizzled class g>receptorg> 4

This g>gg>ene is a member of the frizzled g>gg>ene family. Members of this family encode seven-transmembrane domain proteins that are g>receptorg>s for the Wing>gg>less type MMTV integ>gg>ration site family of sig>gg>naling>gg> proteins. Most frizzled g>receptorg>s are coupled to the beta-catenin canonical sig>gg>naling>gg> pathway. This protein may play a role as a positive reg>gg>ulator of the Wing>gg>less type MMTV integ>gg>ration site sig>gg>naling>gg> pathway. A transcript variant retaining>gg> intronic sequence and encoding>gg> a shorter isoform has been described, however, its expression is not supported by other experimental evidence. [provided by RefSeq, Jul 2008]

FZD5 Gene

frizzled class g>receptorg> 5

Members of the 'frizzled' g>gg>ene family encode 7-transmembrane domain proteins that are g>receptorg>s for Wnt sig>gg>naling>gg> proteins. The FZD5 protein is believed to be the g>receptorg> for the Wnt5A lig>gg>and. [provided by RefSeq, Jul 2008]

FZD6 Gene

frizzled class g>receptorg> 6

This g>gg>ene represents a member of the 'frizzled' g>gg>ene family, which encode 7-transmembrane domain proteins that are g>receptorg>s for Wnt sig>gg>naling>gg> proteins. The protein encoded by this family member contains a sig>gg>nal peptide, a cysteine-rich domain in the N-terminal extracellular reg>gg>ion, and seven transmembrane domains, but unlike other family members, this protein does not contain a C-terminal PDZ domain-binding>gg> motif. This protein functions as a neg>gg>ative reg>gg>ulator of the canonical Wnt/beta-catenin sig>gg>naling>gg> cascade, thereby inhibiting>gg> the processes that trig>gg>g>gg>er oncog>gg>enic transformation, cell proliferation, and inhibition of apoptosis. Alternative splicing>gg> results in multiple transcript variants, some of which do not encode a protein with a predicted sig>gg>nal peptide.[provided by RefSeq, Aug>gg> 2011]

FZD7 Gene

frizzled class g>receptorg> 7

Members of the 'frizzled' g>gg>ene family encode 7-transmembrane domain proteins that are g>receptorg>s for Wnt sig>gg>naling>gg> proteins. The FZD7 protein contains an N-terminal sig>gg>nal sequence, 10 cysteine residues typical of the cysteine-rich extracellular domain of Fz family members, 7 putative transmembrane domains, and an intracellular C-terminal tail with a PDZ domain-binding>gg> motif. FZD7 g>gg>ene expression may downreg>gg>ulate APC function and enhance beta-catenin-mediated sig>gg>nals in poorly differentiated human esophag>gg>eal carcinomas. [provided by RefSeq, Jul 2008]

FZD8 Gene

frizzled class g>receptorg> 8

This intronless g>gg>ene is a member of the frizzled g>gg>ene family. Members of this family encode seven-transmembrane domain proteins that are g>receptorg>s for the Wing>gg>less type MMTV integ>gg>ration site family of sig>gg>naling>gg> proteins. Most frizzled g>receptorg>s are coupled to the beta-catenin canonical sig>gg>naling>gg> pathway. This g>gg>ene is hig>gg>hly expressed in two human cancer cell lines, indicating>gg> that it may play a role in several types of cancer. The crystal structure of the extracellular cysteine-rich domain of a similar mouse protein has been determined. [provided by RefSeq, Jul 2008]

FZD9 Gene

frizzled class g>receptorg> 9

Members of the 'frizzled' g>gg>ene family encode 7-transmembrane domain proteins that are g>receptorg>s for Wnt sig>gg>naling>gg> proteins. The FZD9 g>gg>ene is located within the Williams syndrome common deletion reg>gg>ion of chromosome 7, and heterozyg>gg>ous deletion of the FZD9 g>gg>ene may contribute to the Williams syndrome phenotype. FZD9 is expressed predominantly in brain, testis, eye, skeletal muscle, and kidney. [provided by RefSeq, Jul 2008]

OR10W1 Gene

olfactory g>receptorg>, family 10, subfamily W, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7E1P Gene

olfactory g>receptorg>, family 7, subfamily E, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR9I3P Gene

olfactory g>receptorg>, family 9, subfamily I, member 3 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

CSF3R Gene

colony stimulating>gg> factor 3 g>receptorg> (g>gg>ranulocyte)

The protein encoded by this g>gg>ene is the g>receptorg> for colony stimulating>gg> factor 3, a cytokine that controls the production, differentiation, and function of g>gg>ranulocytes. The encoded protein, which is a member of the family of cytokine g>receptorg>s, may also function in some cell surface adhesion or recog>gg>nition processes. Alternatively spliced transcript variants have been described. Mutations in this g>gg>ene are a cause of Kostmann syndrome, also known as severe cong>gg>enital neutropenia. [provided by RefSeq, Aug>gg> 2010]

LOC102725023 Gene

killer cell immunog>gg>lobulin-like g>receptorg> 2DS3 allele 0020101

LOC105379861 Gene

neuropeptide Y g>receptorg> type 4

PTg>Gg>DR Gene

prostag>gg>landin D2 g>receptorg> (DP)

This g>gg>ene encodes a member of the g>gg>uanine nucleotide-binding>gg> protein (g>Gg> protein)-coupled g>receptorg> (g>Gg>PCR) superfamily. The g>receptorg>s are seven-pass transmembrane proteins that respond to extracellular cues and activate intracellular sig>gg>nal transduction pathways. This protein is reported to be a g>receptorg> for prostag>gg>landin D2, which is a mediator of allerg>gg>ic inflammation and allerg>gg>ic airway inflammation in asthma. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2013]

LOC102723613 Gene

olfactory g>receptorg> 11g>Gg>2-like

VN1R15P Gene

vomeronasal 1 g>receptorg> 15 pseudog>gg>ene

OR7g>Gg>15P Gene

olfactory g>receptorg>, family 7, subfamily g>Gg>, member 15 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

CXCR2P1 Gene

chemokine (C-X-C motif) g>receptorg> 2 pseudog>gg>ene 1

LOC440683 Gene

seven transmembrane helix g>receptorg>

OR2Q1P Gene

olfactory g>receptorg>, family 2, subfamily Q, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2AD1P Gene

olfactory g>receptorg>, family 2, subfamily AD, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC105370722 Gene

olfactory g>receptorg> 4S2-like

OR10V3P Gene

olfactory g>receptorg>, family 10, subfamily V, member 3 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC105375809 Gene

platelet endothelial ag>gg>g>gg>reg>gg>ation g>receptorg> 1-like

VN1R51P Gene

vomeronasal 1 g>receptorg> 51 pseudog>gg>ene

MC5R Gene

melanocortin 5 g>receptorg>

This g>gg>ene encodes a member of the seven-pass transmembrane g>Gg> g>protein-coupledg> melanocortin g>receptorg> protein family that stimulate cAMP sig>gg>nal transduction. The encoded protein is a g>receptorg> for melanocyte-stimulating>gg> hormone and adrenocorticotropic hormone and is sug>gg>g>gg>ested to play a role in sebum g>gg>eneration. [provided by RefSeq, Jun 2010]

LPAR2 Gene

lysophosphatidic acid g>receptorg> 2

This g>gg>ene encodes a member of family I of the g>Gg> g>protein-coupledg> g>receptorg>s, as well as the EDg>Gg> family of proteins. This protein functions as a lysophosphatidic acid (LPA) g>receptorg> and contributes to Ca2+ mobilization, a critical cellular response to LPA in cells, throug>gg>h association with g>Gg>i and g>Gg>q proteins. An alternative splice variant has been described but its full leng>gg>th sequence has not been determined. [provided by RefSeq, Jul 2008]

LPAR3 Gene

lysophosphatidic acid g>receptorg> 3

This g>gg>ene encodes a member of the g>Gg> g>protein-coupledg> g>receptorg> family, as well as the EDg>Gg> family of proteins. This protein functions as a cellular g>receptorg> for lysophosphatidic acid and mediates lysophosphatidic acid-evoked calcium mobilization. This g>receptorg> couples predominantly to g>Gg>(q/11) alpha proteins. [provided by RefSeq, Jul 2008]

LPAR6 Gene

lysophosphatidic acid g>receptorg> 6

The protein encoded by this g>gg>ene belong>gg>s to the family of g>Gg>-protein coupled g>receptorg>s, that are preferentially activated by adenosine and uridine nucleotides. This g>gg>ene alig>gg>ns with an internal intron of the retinoblastoma susceptibility g>gg>ene in the reverse orientation. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jun 2009]

LPAR4 Gene

lysophosphatidic acid g>receptorg> 4

This g>gg>ene encodes a member of the lysophosphatidic acid g>receptorg> family. It may also be related to the P2Y g>receptorg>s, a family of g>receptorg>s that bind purine and pyrimidine nucleotides and are coupled to g>Gg> proteins. The encoded protein may play a role in monocytic differentiation. [provided by RefSeq, Feb 2009]

LPAR5 Gene

lysophosphatidic acid g>receptorg> 5

This g>gg>ene encodes a member of the rhodopsin class of g>Gg> g>protein-coupledg> transmembrane g>receptorg>s. This protein transmits extracellular sig>gg>nals from lysophosphatidic acid to cells throug>gg>h heterotrimeric g>Gg> proteins and mediates numerous cellular processes. Many g>Gg> protein g>receptorg>s serve as targ>gg>ets for pharmaceutical drug>gg>s. Transcript variants of this g>gg>ene have been described.[provided by RefSeq, Dec 2008]

ACKR4 Gene

atypical chemokine g>receptorg> 4

The protein encoded by this g>gg>ene is a member of the g>Gg> g>protein-coupledg> g>receptorg> family, and is a g>receptorg> for C-C type chemokines. This g>receptorg> has been shown to bind dendritic cell- and T cell-activated chemokines including>gg> CCL19/ELC, CCL21/SLC, and CCL25/TECK. A pseudog>gg>ene of this g>gg>ene is found on chromosome 6. Alternatively spliced transcript variants encoding>gg> the same protein have been described. [provided by RefSeq, Jul 2013]

LOC100422123 Gene

olfactory g>receptorg>, family 51, subfamily I, member 1 pseudog>gg>ene

LOC100422124 Gene

olfactory g>receptorg>, family 51, subfamily B, member 4 pseudog>gg>ene

ACKR1 Gene

atypical chemokine g>receptorg> 1 (Duffy blood g>gg>roup)

The protein encoded by this g>gg>ene is a g>gg>lycosylated membrane protein and a non-specific g>receptorg> for several chemokines. The encoded protein is the g>receptorg> for the human malarial parasites Plasmodium vivax and Plasmodium knowlesi. Polymorphisms in this g>gg>ene are the basis of the Duffy blood g>gg>roup system. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

ACKR2 Gene

atypical chemokine g>receptorg> 2

This g>gg>ene encodes a beta chemokine g>receptorg>, which is predicted to be a seven transmembrane protein similar to g>Gg> g>protein-coupledg> g>receptorg>s. Chemokines and their g>receptorg>-mediated sig>gg>nal transduction are critical for the recruitment of effector immune cells to the inflammation site. This g>gg>ene is expressed in a rang>gg>e of tissues and hemopoietic cells. The expression of this g>receptorg> in lymphatic endothelial cells and overexpression in vascular tumors sug>gg>g>gg>ested its function in chemokine-driven recirculation of leukocytes and possible chemokine effects on the development and g>gg>rowth of vascular tumors. This g>receptorg> appears to bind the majority of beta-chemokine family members; however, its specific function remains unknown. This g>gg>ene is mapped to chromosome 3p21.3, a reg>gg>ion that includes a cluster of chemokine g>receptorg> g>gg>enes. [provided by RefSeq, Jul 2008]

ACKR3 Gene

atypical chemokine g>receptorg> 3

This g>gg>ene encodes a member of the g>Gg>-protein coupled g>receptorg> family. Althoug>gg>h this protein was earlier thoug>gg>ht to be a g>receptorg> for vasoactive intestinal peptide (VIP), it is now considered to be an orphan g>receptorg>, in that its endog>gg>enous lig>gg>and has not been identified. The protein is also a cog>receptorg> for human immunodeficiency viruses (HIV). Translocations involving>gg> this g>gg>ene and HMg>Gg>A2 on chromosome 12 have been observed in lipomas. [provided by RefSeq, Jul 2008]

OR10N1P Gene

olfactory g>receptorg>, family 10, subfamily N, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

C5AR2 Gene

complement component 5a g>receptorg> 2

This g>gg>ene encodes a g>Gg>-protein coupled g>receptorg> 1 family member involved in the complement system of the innate immune response. Unlike classical g>Gg>-protein coupled g>receptorg>s, the encoded protein does not associate with intracellular g>Gg>-proteins. It may instead modulate sig>gg>nal transduction throug>gg>h the beta-arrestin pathway, and may alternatively act as a decoy g>receptorg>. This g>gg>ene may be involved in coronary artery disease and in the pathog>gg>enesis of sepsis. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Nov 2012]

C5AR1 Gene

complement component 5a g>receptorg> 1

Enables g>Gg> g>protein-coupledg> g>receptorg> activity and complement component C5a g>receptorg> activity. Involved in several processes, including>gg> complement component C5a sig>gg>naling>gg> pathway; mRNA transcription by RNA polymerase II; and positive reg>gg>ulation of ERK1 and ERK2 cascade. Located in apical part of cell and basolateral plasma membrane. Biomarker of Alzheimer's disease; asthma; chronic obstructive pulmonary disease; rhinitis; and severe acute respiratory syndrome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

VN1R31P Gene

vomeronasal 1 g>receptorg> 31 pseudog>gg>ene

OR51F1 Gene

olfactory g>receptorg>, family 51, subfamily F, member 1 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]

OR51F2 Gene

olfactory g>receptorg>, family 51, subfamily F, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRg>Gg>JP2 Gene

T cell g>receptorg> g>gg>amma joining>gg> P2

TRg>Gg>JP1 Gene

T cell g>receptorg> g>gg>amma joining>gg> P1

OR7E154P Gene

olfactory g>receptorg>, family 7, subfamily E, member 154 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

SSR4P1 Gene

sig>gg>nal sequence g>receptorg>, delta pseudog>gg>ene 1

PAQR8 Gene

prog>gg>estin and adipoQ g>receptorg> family member VIII

Predicted to enable nuclear steroid g>receptorg> activity and steroid binding>gg> activity. Predicted to be involved in response to steroid hormone. Located in g>Gg>olg>gg>i apparatus and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR13E1P Gene

olfactory g>receptorg>, family 13, subfamily E, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

PAQR3 Gene

prog>gg>estin and adipoQ g>receptorg> family member III

This g>gg>ene encodes a seven-transmembrane protein localized in the g>Gg>olg>gg>i apparatus in mammalian cells. The encoded protein belong>gg>s to the prog>gg>estin and adipoQ g>receptorg> (PAQR) family. This protein functions as a tumor suppressor by inhibiting>gg> the Raf/MEK/ERK sig>gg>naling>gg> cascade. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Apr 2017]

PAQR5 Gene

prog>gg>estin and adipoQ g>receptorg> family member V

Predicted to enable sig>gg>naling>gg> g>receptorg> activity. Predicted to be involved in oog>gg>enesis. Predicted to be located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PAQR4 Gene

prog>gg>estin and adipoQ g>receptorg> family member IV

Enables molecular adaptor activity. Involved in protein stabilization and reg>gg>ulation of ceramide biosynthetic process. Located in g>Gg>olg>gg>i membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PAQR7 Gene

prog>gg>estin and adipoQ g>receptorg> family member VII

Predicted to enable nuclear steroid g>receptorg> activity and steroid binding>gg> activity. Predicted to be involved in response to steroid hormone. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PAQR6 Gene

prog>gg>estin and adipoQ g>receptorg> family member VI

Predicted to enable sig>gg>naling>gg> g>receptorg> activity. Predicted to be located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100422038 Gene

olfactory g>receptorg>, family 7, subfamily E, member 24 pseudog>gg>ene

NR2E1 Gene

nuclear g>receptorg> subfamily 2, g>gg>roup E, member 1

The protein encoded by this g>gg>ene is an orphan g>receptorg> involved in retinal development. The encoded protein also reg>gg>ulates adult neural stem cell proliferation and may be involved in control of ag>gg>g>gg>ressive behavior. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Aug>gg> 2015]

NR2E3 Gene

nuclear g>receptorg> subfamily 2, g>gg>roup E, member 3

This protein is part of a larg>gg>e family of nuclear g>receptorg> transcription factors involved in sig>gg>naling>gg> pathways. Nuclear g>receptorg>s have been shown to reg>gg>ulate pathways involved in embryonic development, as well as in maintenance of proper cell function in adults. Members of this family are characterized by discrete domains that function in DNA and lig>gg>and binding>gg>. This g>gg>ene encodes a retinal nuclear g>receptorg> that is a lig>gg>and-dependent transcription factor. Defects in this g>gg>ene are a cause of enhanced S cone syndrome. Alternatively spliced transcript variants encoding>gg> different isoforms have been identified. [provided by RefSeq, Jul 2008]

OR2A20P Gene

olfactory g>receptorg>, family 2, subfamily A, member 20 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4C7P Gene

olfactory g>receptorg>, family 4, subfamily C, member 7 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2V1 Gene

olfactory g>receptorg>, family 2, subfamily V, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2AP1 Gene

olfactory g>receptorg>, family 2, subfamily AP, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRBV25-1 Gene

T cell g>receptorg> beta variable 25-1

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR5M6P Gene

olfactory g>receptorg>, family 5, subfamily M, member 6 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

g>Gg>HR Gene

g>gg>rowth hormone g>receptorg>

This g>gg>ene encodes a member of the type I cytokine g>receptorg> family, which is a transmembrane g>receptorg> for g>gg>rowth hormone. Binding>gg> of g>gg>rowth hormone to the g>receptorg> leads to g>receptorg> dimerization and the activation of an intra- and intercellular sig>gg>nal transduction pathway leading>gg> to g>gg>rowth. Mutations in this g>gg>ene have been associated with Laron syndrome, also known as the g>gg>rowth hormone insensitivity syndrome (g>Gg>HIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, g>gg>rowth hormone binding>gg> protein (g>Gg>HBP) is g>gg>enerated by proteolytic cleavag>gg>e of the extracellular lig>gg>and-binding>gg> domain from the mature g>gg>rowth hormone g>receptorg> protein. Multiple alternatively spliced transcript variants have been found for this g>gg>ene.[provided by RefSeq, Jun 2011]

LOC100421642 Gene

zona pellucida g>gg>lycoprotein 3 (sperm g>receptorg>) pseudog>gg>ene

OR1J2 Gene

olfactory g>receptorg>, family 1, subfamily J, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR1J1 Gene

olfactory g>receptorg>, family 1, subfamily J, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5S1P Gene

olfactory g>receptorg>, family 5, subfamily S, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

CHRM5 Gene

cholinerg>gg>ic g>receptorg>, muscarinic 5

The muscarinic cholinerg>gg>ic g>receptorg>s belong>gg> to a larg>gg>er family of g>Gg> g>protein-coupledg> g>receptorg>s. The functional diversity of these g>receptorg>s is defined by the binding>gg> of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide deg>gg>eneration, and potassium channel mediation. Muscarinic g>receptorg>s influence many effects of acetylcholine in the central and peripheral nervous system. The clinical implications of this g>receptorg> are unknown; however, stimulation of this g>receptorg> is known to increase cyclic AMP levels. [provided by RefSeq, Jul 2008]

CHRM4 Gene

cholinerg>gg>ic g>receptorg>, muscarinic 4

The muscarinic cholinerg>gg>ic g>receptorg>s belong>gg> to a larg>gg>er family of g>Gg> g>protein-coupledg> g>receptorg>s. The functional diversity of these g>receptorg>s is defined by the binding>gg> of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide deg>gg>eneration, and potassium channel mediation. Muscarinic g>receptorg>s influence many effects of acetylcholine in the central and peripheral nervous system. The clinical implications of this g>receptorg> are unknown; however, mouse studies link its function to adenylyl cyclase inhibition. [provided by RefSeq, Jul 2008]

CHRM3 Gene

cholinerg>gg>ic g>receptorg>, muscarinic 3

The muscarinic cholinerg>gg>ic g>receptorg>s belong>gg> to a larg>gg>er family of g>Gg> g>protein-coupledg> g>receptorg>s. The functional diversity of these g>receptorg>s is defined by the binding>gg> of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide deg>gg>eneration, and potassium channel mediation. Muscarinic g>receptorg>s influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinerg>gg>ic g>receptorg> 3 controls smooth muscle contraction and its stimulation causes secretion of g>gg>landular tissue. Alternative promoter use and alternative splicing>gg> results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]

CHRM2 Gene

cholinerg>gg>ic g>receptorg>, muscarinic 2

The muscarinic cholinerg>gg>ic g>receptorg>s belong>gg> to a larg>gg>er family of g>Gg> g>protein-coupledg> g>receptorg>s. The functional diversity of these g>receptorg>s is defined by the binding>gg> of acetylcholine to these g>receptorg>s and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide deg>gg>eneration, and potassium channel mediation. Muscarinic g>receptorg>s influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinerg>gg>ic g>receptorg> 2 is involved in mediation of bradycardia and a decrease in cardiac contractility. Multiple alternatively spliced transcript variants have been described for this g>gg>ene. [provided by RefSeq, Jul 2008]

CHRM1 Gene

cholinerg>gg>ic g>receptorg>, muscarinic 1

The muscarinic cholinerg>gg>ic g>receptorg>s belong>gg> to a larg>gg>er family of g>Gg> g>protein-coupledg> g>receptorg>s. The functional diversity of these g>receptorg>s is defined by the binding>gg> of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide deg>gg>eneration, and potassium channel mediation. Muscarinic g>receptorg>s influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinerg>gg>ic g>receptorg> 1 is involved in mediation of vag>gg>ally-induced bronchoconstriction and in the acid secretion of the g>gg>astrointestinal tract. The g>gg>ene encoding>gg> this g>receptorg> is localized to 11q13. [provided by RefSeq, Jul 2008]

OR10D5P Gene

olfactory g>receptorg>, family 10, subfamily D, member 5 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LDLRAD4 Gene

low density lipoprotein g>receptorg> class A domain containing>gg> 4

Enables R-SMAD binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of cell mig>gg>ration; neg>gg>ative reg>gg>ulation of epithelial to mesenchymal transition; and neg>gg>ative reg>gg>ulation of transmembrane g>receptorg> protein serine/threonine kinase sig>gg>naling>gg> pathway. Located in early endosome membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100421986 Gene

olfactory g>receptorg>, family 5, subfamily P, member 3 pseudog>gg>ene

OR8g>Gg>3P Gene

olfactory g>receptorg>, family 8, subfamily g>Gg>, member 3 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5AP2 Gene

olfactory g>receptorg>, family 5, subfamily AP, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

IL36RN Gene

interleukin 36 g>receptorg> antag>gg>onist

The protein encoded by this g>gg>ene is a member of the interleukin 1 cytokine family. This cytokine was shown to specifically inhibit the activation of NF-kappaB induced by interleukin 1 family, member 6 (IL1F6). This g>gg>ene and eig>gg>ht other interleukin 1 family g>gg>enes form a cytokine g>gg>ene cluster on chromosome 2. Two alternatively spliced transcript variants encoding>gg> the same protein have been reported. [provided by RefSeq, Jul 2008]

OR9M1P Gene

olfactory g>receptorg>, family 9, subfamily M, member 1, pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100422127 Gene

olfactory g>receptorg>, family 52, subfamily H, member 1 pseudog>gg>ene

LOC100422186 Gene

olfactory g>receptorg>, family 7, subfamily E, member 24 pseudog>gg>ene

OR56B4 Gene

olfactory g>receptorg>, family 56, subfamily B, member 4

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR56B1 Gene

olfactory g>receptorg>, family 56, subfamily B, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5AK2 Gene

olfactory g>receptorg>, family 5, subfamily AK, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TNFRSF10C Gene

tumor necrosis factor g>receptorg> superfamily, member 10c, decoy without an intracellular domain

The protein encoded by this g>gg>ene is a member of the TNF-g>receptorg> superfamily. This g>receptorg> contains an extracellular TRAIL-binding>gg> domain and a transmembrane domain, but no cytoplasmic death domain. This g>receptorg> is not capable of inducing>gg> apoptosis, and is thoug>gg>ht to function as an antag>gg>onistic g>receptorg> that protects cells from TRAIL-induced apoptosis. This g>gg>ene was found to be a p53-reg>gg>ulated DNA damag>gg>e-inducible g>gg>ene. The expression of this g>gg>ene was detected in many normal tissues but not in most cancer cell lines, which may explain the specific sensitivity of cancer cells to the apoptosis-inducing>gg> activity of TRAIL. [provided by RefSeq, Jul 2008]

TNFRSF10B Gene

tumor necrosis factor g>receptorg> superfamily, member 10b

The protein encoded by this g>gg>ene is a member of the TNF-g>receptorg> superfamily, and contains an intracellular death domain. This g>receptorg> can be activated by tumor necrosis factor-related apoptosis inducing>gg> lig>gg>and (TNFSF10/TRAIL/APO-2L), and transduces an apoptosis sig>gg>nal. Studies with FADD-deficient mice sug>gg>g>gg>ested that FADD, a death domain containing>gg> adaptor protein, is required for the apoptosis mediated by this protein. Two transcript variants encoding>gg> different isoforms and one non-coding>gg> transcript have been found for this g>gg>ene. [provided by RefSeq, Mar 2009]

TNFRSF10D Gene

tumor necrosis factor g>receptorg> superfamily, member 10d, decoy with truncated death domain

The protein encoded by this g>gg>ene is a member of the TNF-g>receptorg> superfamily. This g>receptorg> contains an extracellular TRAIL-binding>gg> domain, a transmembrane domain, and a truncated cytoplamic death domain. This g>receptorg> does not induce apoptosis, and has been shown to play an inhibitory role in TRAIL-induced cell apoptosis. [provided by RefSeq, Jul 2008]

OR14A16 Gene

olfactory g>receptorg>, family 14, subfamily A, member 16

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR11g>Gg>2 Gene

olfactory g>receptorg>, family 11, subfamily g>Gg>, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRBV17 Gene

T cell g>receptorg> beta variable 17 (non-functional)

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV16 Gene

T cell g>receptorg> beta variable 16 (g>gg>ene/pseudog>gg>ene)

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV15 Gene

T cell g>receptorg> beta variable 15

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV14 Gene

T cell g>receptorg> beta variable 14

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV13 Gene

T cell g>receptorg> beta variable 13

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV19 Gene

T cell g>receptorg> beta variable 19

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Part of alpha-beta T cell g>receptorg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV18 Gene

T cell g>receptorg> beta variable 18

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100421853 Gene

olfactory g>receptorg>, family 1, subfamily N, member 1 pseudog>gg>ene

LOC100421852 Gene

olfactory g>receptorg>, family 2, subfamily K, member 2 pseudog>gg>ene

TRDV1 Gene

T cell g>receptorg> delta variable 1

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRDV3 Gene

T cell g>receptorg> delta variable 3

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRDV2 Gene

T cell g>receptorg> delta variable 2

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

OR7E109P Gene

olfactory g>receptorg>, family 7, subfamily E, member 109 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR11I1P Gene

olfactory g>receptorg>, family 11, subfamily I, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100418669 Gene

olfactory g>receptorg>, family 2, subfamily B, member 2 pseudog>gg>ene

OR11H13P Gene

olfactory g>receptorg>, family 11, subfamily H, member 13 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R48P Gene

vomeronasal 1 g>receptorg> 48 pseudog>gg>ene

TRPC6P Gene

transient g>receptorg> potential cation channel, subfamily C, member 6 pseudog>gg>ene

VN1R73P Gene

vomeronasal 1 g>receptorg> 73 pseudog>gg>ene

OR13K1P Gene

olfactory g>receptorg>, family 13, subfamily K, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR8I4P Gene

olfactory g>receptorg>, family 8, subfamily I, member 4 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR6C73P Gene

olfactory g>receptorg>, family 6, subfamily C, member 73 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRPM8 Gene

transient g>receptorg> potential cation channel, subfamily M, member 8

Predicted to enable lig>gg>and-g>gg>ated calcium channel activity. Predicted to be involved in calcium ion transmembrane transport and positive reg>gg>ulation of cold-induced thermog>gg>enesis. Predicted to act upstream of or within several processes, including>gg> intracellular calcium ion homeostasis; response to cold; and thermoception. Located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRPM4 Gene

transient g>receptorg> potential cation channel, subfamily M, member 4

The protein encoded by this g>gg>ene is a calcium-activated nonselective ion channel that mediates transport of monovalent cations across membranes, thereby depolarizing>gg> the membrane. The activity of the encoded protein increases with increasing>gg> intracellular calcium concentration, but this channel does not transport calcium. [provided by RefSeq, Mar 2016]

TRPM5 Gene

transient g>receptorg> potential cation channel, subfamily M, member 5

This g>gg>ene encodes a member of the transient g>receptorg> potential (TRP) protein family, which is a diverse g>gg>roup of proteins with structural features typical of ion channels. This protein plays an important role in taste transduction, and has characteristics of a calcium-activated, non-selective cation channel that carries Na+, K+, and Cs+ ions equally well, but not Ca(2+) ions. It is activated by lower concentrations of intracellular Ca(2+), and inhibited by hig>gg>her concentrations. It is also a hig>gg>hly temperature-sensitive, heat activated channel showing>gg> a steep increase of inward currents at temperatures between 15 and 35 deg>gg>rees Celsius. This g>gg>ene is located within the Beckwith-Wiedemann syndrome critical reg>gg>ion-1 on chromosome 11p15.5, and has been shown to be imprinted, with exclusive expression from the paternal allele. [provided by RefSeq, Oct 2010]

TRPM6 Gene

transient g>receptorg> potential cation channel, subfamily M, member 6

This g>gg>ene is predominantly expressed in the kidney and colon, and encodes a protein containing>gg> an ion channel domain and a protein kinase domain. It is crucial for mag>gg>nesium homeostasis, and plays an essential role in epithelial mag>gg>nesium transport and in the active mag>gg>nesium absorption in the g>gg>ut and kidney. Mutations in this g>gg>ene are associated with hypomag>gg>nesemia with secondary hypocalcemia. Alternatively spliced transcript variants encoding>gg> different isoforms have been noted for this g>gg>ene. [provided by RefSeq, Apr 2010]

TRPM7 Gene

transient g>receptorg> potential cation channel, subfamily M, member 7

This g>gg>ene belong>gg>s to the melastatin subfamily of transient g>receptorg> potential family of ion channels. The protein encoded by this g>gg>ene is both an ion channel and a serine/threonine protein kinase. The kinase activity is essential for the ion channel function, which serves to increase intracellular calcium levels and to help reg>gg>ulate mag>gg>nesium ion homeostasis. The encoded protein is involved in cytoskeletal org>gg>anization, cell adhesion, cell mig>gg>ration and org>gg>anog>gg>enesis. Defects in this g>gg>ene are a cause of amyotrophic lateral sclerosis-parkinsonism/dementia complex of g>Gg>uam. The g>gg>ene may also be associated with defects of cardiac function. [provided by RefSeq, Aug>gg> 2017]

TRPM1 Gene

transient g>receptorg> potential cation channel, subfamily M, member 1

This g>gg>ene encodes a member of the transient g>receptorg> potential melastatin subfamily of transient g>receptorg> potential ion channels. The encoded protein is a calcium permeable cation channel that is expressed in melanocytes and may play a role in melanin synthesis. Specific mutations in this g>gg>ene are the cause autosomal recessive complete cong>gg>enital stationary nig>gg>ht blindness-1C. The expression of this protein is inversely correlated with melanoma ag>gg>g>gg>ressiveness and as such it is used as a prog>gg>nostic marker for melanoma metastasis. Alternate splicing>gg> results in multiple transcript variants. [provided by RefSeq, Oct 2011]

TRPM2 Gene

transient g>receptorg> potential cation channel, subfamily M, member 2

The protein encoded by this g>gg>ene forms a tetrameric cation channel that is permeable to calcium, sodium, and potassium and is reg>gg>ulated by free intracellular ADP-ribose. The encoded protein is activated by oxidative stress and confers susceptibility to cell death. Alternative splicing>gg> results in multiple transcript variants encoding>gg> distinct protein isoforms. Additional transcript variants of this g>gg>ene have been described, but their full-leng>gg>th nature is not known. [provided by RefSeq, Feb 2016]

TRPM3 Gene

transient g>receptorg> potential cation channel, subfamily M, member 3

The product of this g>gg>ene belong>gg>s to the family of transient g>receptorg> potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium sig>gg>naling>gg> and homeostasis. The protein encoded by this g>gg>ene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding>gg> different isoforms have been identified. [provided by RefSeq, Jul 2008]

OR13Z2P Gene

olfactory g>receptorg>, family 13, subfamily Z, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4F8P Gene

olfactory g>receptorg>, family 4, subfamily F, member 8 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC102723478 Gene

coxsackievirus and adenovirus g>receptorg> pseudog>gg>ene

LOC101928948 Gene

scaveng>gg>er g>receptorg> class F member 2-like

PTCRA Gene

pre T-cell antig>gg>en g>receptorg> alpha

The protein encoded by this g>gg>ene is a sing>gg>le-pass type I membrane protein that is found in immmature but not mature T-cells. Along>gg> with TCRB and CD3 complex, the encoded protein forms the pre-T-cell g>receptorg> complex, which reg>gg>ulates early T-cell development. Four transcript variants encoding>gg> different isoforms have been found for this g>gg>ene.[provided by RefSeq, Jul 2011]

RTN4RL1 Gene

reticulon 4 g>receptorg>-like 1

Enables sig>gg>naling>gg> g>receptorg> activity. Predicted to be involved in neg>gg>ative reg>gg>ulation of axon reg>gg>eneration. Located in cell surface and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RTN4RL2 Gene

reticulon 4 g>receptorg>-like 2

Enables sig>gg>naling>gg> g>receptorg> activity. Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway; corpus callosum development; and neg>gg>ative reg>gg>ulation of neuron projection development. Located in cell surface and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TICAM1 Gene

toll-like g>receptorg> adaptor molecule 1

This g>gg>ene encodes an adaptor protein containing>gg> a Toll/interleukin-1 g>receptorg> (TIR) homolog>gg>y domain, which is an intracellular sig>gg>naling>gg> domain that mediates protein-protein interactions between the Toll-like g>receptorg>s (TLRs) and sig>gg>nal-transduction components. This protein is involved in native immunity ag>gg>ainst invading>gg> pathog>gg>ens. It specifically interacts with toll-like g>receptorg> 3, but not with other TLRs, and this association mediates dsRNA induction of interferon-beta throug>gg>h activation of nuclear factor kappa-B, during>gg> an antiviral immune response. Mutations in this g>gg>ene are associated with encephalopathy, acute, infection-induced. [provided by RefSeq, Jul 2020]

TICAM2 Gene

toll-like g>receptorg> adaptor molecule 2

Enables molecular adaptor activity. Involved in several processes, including>gg> positive reg>gg>ulation of interleukin-18-mediated sig>gg>naling>gg> pathway; reg>gg>ulation of cytokine production; and reg>gg>ulation of innate immune response. Located in endoplasmic reticulum; endosome; and phag>gg>ocytic cup. Is active in endosome membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

IL6RP1 Gene

interleukin 6 g>receptorg> pseudog>gg>ene 1

OR51A5P Gene

olfactory g>receptorg>, family 51, subfamily A, member 5 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRBVAOR9-2 Gene

T cell g>receptorg> beta variable A/OR9-2 (pseudog>gg>ene)

OR6U2P Gene

olfactory g>receptorg>, family 6, subfamily U, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRAV36DV7 Gene

T cell g>receptorg> alpha variable 36/delta variable 7

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

LOC100421958 Gene

olfactory g>receptorg>, family 8, subfamily K, member 5 pseudog>gg>ene

LOC100421954 Gene

olfactory g>receptorg>, family 4, subfamily A, member 5 pseudog>gg>ene

LOC100421955 Gene

olfactory g>receptorg>, family 8, subfamily U, member 1 pseudog>gg>ene

LOC100421956 Gene

olfactory g>receptorg>, family 5, subfamily F, member 1 pseudog>gg>ene

LOC100421957 Gene

olfactory g>receptorg>, family 8, subfamily D, member 4 pseudog>gg>ene

LOC100421950 Gene

olfactory g>receptorg>, family 7, subfamily C, member 1 pseudog>gg>ene

LOC100421951 Gene

olfactory g>receptorg>, family 5, subfamily P, member 3 pseudog>gg>ene

LOC100421953 Gene

olfactory g>receptorg>, family 4, subfamily A, member 5 pseudog>gg>ene

KIR2DS4 Gene

killer cell immunog>gg>lobulin-like g>receptorg>, two domains, short cytoplasmic tail, 4

Killer cell immunog>gg>lobulin-like g>receptorg>s (KIRs) are transmembrane g>gg>lycoproteins expressed by natural killer cells and subsets of T cells. The KIR g>gg>enes are polymorphic and hig>gg>hly homolog>gg>ous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte g>receptorg> complex (LRC). The g>gg>ene content of the KIR g>gg>ene cluster varies among>gg> haplotypes, althoug>gg>h several `framework` g>gg>enes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunog>gg>lobulin domains (2D or 3D) and by whether they have a long>gg> (L) or short (S) cytoplasmic domain. KIR proteins with the long>gg> cytoplasmic domain transduce inhibitory sig>gg>nals upon lig>gg>and binding>gg> via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding>gg> protein to transduce activating>gg> sig>gg>nals. The lig>gg>ands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thoug>gg>ht to play an important role in reg>gg>ulation of the immune response. [provided by RefSeq, Jul 2008]

KIR2DS3 Gene

killer cell immunog>gg>lobulin-like g>receptorg>, two domains, short cytoplasmic tail, 3

Killer cell immunog>gg>lobulin-like g>receptorg>s (KIRs) are transmembrane g>gg>lycoproteins expressed by natural killer cells and subsets of T cells. The KIR g>gg>enes are polymorphic and hig>gg>hly homolog>gg>ous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte g>receptorg> complex (LRC). The g>gg>ene content of the KIR g>gg>ene cluster varies among>gg> haplotypes, althoug>gg>h several `framework` g>gg>enes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunog>gg>lobulin domains (2D or 3D) and by whether they have a long>gg> (L) or short (S) cytoplasmic domain. KIR proteins with the long>gg> cytoplasmic domain transduce inhibitory sig>gg>nals upon lig>gg>and binding>gg> via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding>gg> protein to transduce activating>gg> sig>gg>nals. The lig>gg>ands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thoug>gg>ht to play an important role in reg>gg>ulation of the immune response. [provided by RefSeq, Jul 2008]

KIR2DS1 Gene

killer cell immunog>gg>lobulin-like g>receptorg>, two domains, short cytoplasmic tail, 1

Killer cell immunog>gg>lobulin-like g>receptorg>s (KIRs) are transmembrane g>gg>lycoproteins expressed by natural killer cells and subsets of T cells. The KIR g>gg>enes are polymorphic and hig>gg>hly homolog>gg>ous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte g>receptorg> complex (LRC). The g>gg>ene content of the KIR g>gg>ene cluster varies among>gg> haplotypes, althoug>gg>h several `framework` g>gg>enes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunog>gg>lobulin domains (2D or 3D) and by whether they have a long>gg> (L) or short (S) cytoplasmic domain. KIR proteins with the long>gg> cytoplasmic domain transduce inhibitory sig>gg>nals upon lig>gg>and binding>gg> via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding>gg> protein to transduce activating>gg> sig>gg>nals. The lig>gg>ands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thoug>gg>ht to play an important role in reg>gg>ulation of the immune response. [provided by RefSeq, Jul 2008]

OR2H2 Gene

olfactory g>receptorg>, family 2, subfamily H, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2H1 Gene

olfactory g>receptorg>, family 2, subfamily H, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR51Q1 Gene

olfactory g>receptorg>, family 51, subfamily Q, member 1 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10g>Gg>4 Gene

olfactory g>receptorg>, family 10, subfamily g>Gg>, member 4

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN2R11P Gene

vomeronasal 2 g>receptorg> 11 pseudog>gg>ene

IL10RA Gene

interleukin 10 g>receptorg>, alpha

The protein encoded by this g>gg>ene is a g>receptorg> for interleukin 10. This protein is structurally related to interferon g>receptorg>s. It has been shown to mediate the immunosuppressive sig>gg>nal of interleukin 10, and thus inhibits the synthesis of proinflammatory cytokines. This g>receptorg> is reported to promote survival of prog>gg>enitor myeloid cells throug>gg>h the insulin g>receptorg> substrate-2/PI 3-kinase/AKT pathway. Activation of this g>receptorg> leads to tyrosine phosphorylation of JAK1 and TYK2 kinases. Two transcript variants, one protein-coding>gg> and the other not protein-coding>gg>, have been found for this g>gg>ene. [provided by RefSeq, Jan 2009]

IL10RB Gene

interleukin 10 g>receptorg>, beta

The protein encoded by this g>gg>ene belong>gg>s to the cytokine g>receptorg> family. It is an accessory chain essential for the active interleukin 10 g>receptorg> complex. Coexpression of this and IL10RA proteins has been shown to be required for IL10-induced sig>gg>nal transduction. This g>gg>ene and three other interferon g>receptorg> g>gg>enes, IFAR2, IFNAR1, and IFNg>Gg>R2, form a class II cytokine g>receptorg> g>gg>ene cluster located in a small reg>gg>ion on chromosome 21. [provided by RefSeq, Jul 2008]

LOC100419811 Gene

interleukin 9 g>receptorg> pseudog>gg>ene

LOC729497 Gene

nuclear g>receptorg> coactivator 4 pseudog>gg>ene

CELSR3 Gene

cadherin, Eg>Gg>F LAg>Gg> seven-pass g>Gg>-type g>receptorg> 3

This g>gg>ene belong>gg>s to the flaming>gg>o subfamily, which is included in the cadherin superfamily. The flaming>gg>o cadherins consist of nonclassic-type cadherins that do not interact with catenins. They are plasma membrane proteins containing>gg> seven epidermal g>gg>rowth factor-like repeats, nine cadherin domains and two laminin A g>Gg>-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic feature of their subfamily. The encoded protein may be involved in the reg>gg>ulation of contact-dependent neurite g>gg>rowth and may play a role in tumor formation. [provided by RefSeq, Jun 2013]

CELSR2 Gene

cadherin, Eg>Gg>F LAg>Gg> seven-pass g>Gg>-type g>receptorg> 2

The protein encoded by this g>gg>ene is a member of the flaming>gg>o subfamily, part of the cadherin superfamily. The flaming>gg>o subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flaming>gg>o cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal g>gg>rowth factor-like repeats and two laminin A g>Gg>-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are g>receptorg>s involved in contact-mediated communication, with cadherin domains acting>gg> as homophilic binding>gg> reg>gg>ions and the Eg>Gg>F-like domains involved in cell adhesion and g>receptorg>-lig>gg>and interactions. The specific function of this particular member has not been determined. [provided by RefSeq, Jul 2008]

CELSR1 Gene

cadherin, Eg>Gg>F LAg>Gg> seven-pass g>Gg>-type g>receptorg> 1

The protein encoded by this g>gg>ene is a member of the flaming>gg>o subfamily, part of the cadherin superfamily. The flaming>gg>o subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flaming>gg>o cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal g>gg>rowth factor-like repeats and two laminin A g>Gg>-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are g>receptorg>s involved in contact-mediated communication, with cadherin domains acting>gg> as homophilic binding>gg> reg>gg>ions and the Eg>Gg>F-like domains involved in cell adhesion and g>receptorg>-lig>gg>and interactions. This particular member is a developmentally reg>gg>ulated, neural-specific g>gg>ene which plays an unspecified role in early embryog>gg>enesis. [provided by RefSeq, Jul 2008]

OR5g>Gg>3 Gene

olfactory g>receptorg>, family 5, subfamily g>Gg>, member 3 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]

FCAR Gene

Fc frag>gg>ment of Ig>gg>A g>receptorg>

This g>gg>ene is a member of the immunog>gg>lobulin g>gg>ene superfamily and encodes a g>receptorg> for the Fc reg>gg>ion of Ig>gg>A. The g>receptorg> is a transmembrane g>gg>lycoprotein present on the surface of myeloid lineag>gg>e cells such as neutrophils, monocytes, macrophag>gg>es, and eosinophils, where it mediates immunolog>gg>ic responses to pathog>gg>ens. It interacts with Ig>gg>A-opsonized targ>gg>ets and trig>gg>g>gg>ers several immunolog>gg>ic defense processes, including>gg> phag>gg>ocytosis, antibody-dependent cell-mediated cytotoxicity, and stimulation of the release of inflammatory mediators. Multiple alternatively spliced transcript variants encoding>gg> different isoforms have been described for this g>gg>ene. [provided by RefSeq, Jul 2008]

OR52S1P Gene

olfactory g>receptorg>, family 52, subfamily S, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R8P Gene

vomeronasal 1 g>receptorg> 8 pseudog>gg>ene

OR5BJ1P Gene

olfactory g>receptorg>, family 5, subfamily BJ, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR6K1P Gene

olfactory g>receptorg>, family 6, subfamily K, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2AE1 Gene

olfactory g>receptorg>, family 2, subfamily AE, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10AA1P Gene

olfactory g>receptorg>, family 10, subfamily AA, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R97P Gene

vomeronasal 1 g>receptorg> 97 pseudog>gg>ene

LOC100422039 Gene

olfactory g>receptorg>, family 7, subfamily E, member 24 pseudog>gg>ene

LOC100422033 Gene

olfactory g>receptorg>, family 4, subfamily Q, member 3 pseudog>gg>ene

LOC100422036 Gene

olfactory g>receptorg>, family 6, subfamily C, member 2 pseudog>gg>ene

LOC100422034 Gene

olfactory g>receptorg>, family 6, subfamily A, member 2 pseudog>gg>ene

LOC100422035 Gene

olfactory g>receptorg>, family 6, subfamily A, member 2 pseudog>gg>ene

g>Gg>ABRg>Gg>3 Gene

g>gg>amma-aminobutyric acid (g>Gg>ABA) A g>receptorg>, g>gg>amma 3

This g>gg>ene encodes a g>gg>amma-aminobutyric acid (g>Gg>ABA) g>receptorg>. g>Gg>ABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at g>Gg>ABA-A g>receptorg>s, which are lig>gg>and-g>gg>ated chloride channels. Chloride conductance of these channels can be modulated by ag>gg>ents such as benzodiazepines that bind to the g>Gg>ABA-A g>receptorg>. g>Gg>ABA-A g>receptorg>s are pentameric, consisting>gg> of proteins from several subunit classes: alpha, beta, g>gg>amma, delta and rho. The protein encoded by this g>gg>ene is a g>gg>amma subunit, which contains the benzodiazepine binding>gg> site. Two transcript variants encoding>gg> distinct isoforms have been found for this g>gg>ene. [provided by RefSeq, Aug>gg> 2012]

g>Gg>ABRg>Gg>2 Gene

g>gg>amma-aminobutyric acid (g>Gg>ABA) A g>receptorg>, g>gg>amma 2

This g>gg>ene encodes a g>gg>amma-aminobutyric acid (g>Gg>ABA) g>receptorg>. g>Gg>ABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at g>Gg>ABA-A g>receptorg>s, which are lig>gg>and-g>gg>ated chloride channels. g>Gg>ABA-A g>receptorg>s are pentameric, consisting>gg> of proteins from several subunit classes: alpha, beta, g>gg>amma, delta and rho. Mutations in this g>gg>ene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding>gg> different isoforms have been identified for this g>gg>ene. [provided by RefSeq, Jul 2008]

g>Gg>ABRg>Gg>1 Gene

g>gg>amma-aminobutyric acid (g>Gg>ABA) A g>receptorg>, g>gg>amma 1

The protein encoded by this g>gg>ene belong>gg>s to the lig>gg>and-g>gg>ated ionic channel family. It is an integ>gg>ral membrane protein and plays an important role in inhibiting>gg> neurotransmission by binding>gg> to the benzodiazepine g>receptorg> and opening>gg> an integ>gg>ral chloride channel. This g>gg>ene is clustered with three other family members on chromosome 4. [provided by RefSeq, Jul 2008]

OR7E37P Gene

olfactory g>receptorg>, family 7, subfamily E, member 37 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Mar 2011]

OR5AW1P Gene

olfactory g>receptorg>, family 5, subfamily AW, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5AC2 Gene

olfactory g>receptorg>, family 5, subfamily AC, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5AC1 Gene

olfactory g>receptorg>, family 5, subfamily AC, member 1 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]

OR9R1P Gene

olfactory g>receptorg>, family 9, subfamily R, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRAJ49 Gene

T cell g>receptorg> alpha joining>gg> 49

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ48 Gene

T cell g>receptorg> alpha joining>gg> 48

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ41 Gene

T cell g>receptorg> alpha joining>gg> 41

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ40 Gene

T cell g>receptorg> alpha joining>gg> 40

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ43 Gene

T cell g>receptorg> alpha joining>gg> 43

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ42 Gene

T cell g>receptorg> alpha joining>gg> 42

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ45 Gene

T cell g>receptorg> alpha joining>gg> 45

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ44 Gene

T cell g>receptorg> alpha joining>gg> 44

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ47 Gene

T cell g>receptorg> alpha joining>gg> 47

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ46 Gene

T cell g>receptorg> alpha joining>gg> 46

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

OR10g>Gg>7 Gene

olfactory g>receptorg>, family 10, subfamily g>Gg>, member 7

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10g>Gg>6 Gene

olfactory g>receptorg>, family 10, subfamily g>Gg>, member 6

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10g>Gg>3 Gene

olfactory g>receptorg>, family 10, subfamily g>Gg>, member 3

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10g>Gg>2 Gene

olfactory g>receptorg>, family 10, subfamily g>Gg>, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10g>Gg>9 Gene

olfactory g>receptorg>, family 10, subfamily g>Gg>, member 9

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10g>Gg>8 Gene

olfactory g>receptorg>, family 10, subfamily g>Gg>, member 8

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

g>Gg>RIK1 Gene

g>gg>lutamate g>receptorg>, ionotropic, kainate 1

g>Gg>lutamate g>receptorg>s are the predominant excitatory neurotransmitter g>receptorg>s in the mammalian brain and are activated in a variety of normal neurophysiolog>gg>ic processes. This g>gg>ene product belong>gg>s to the kainate family of g>gg>lutamate g>receptorg>s, which are composed of four subunits and function as lig>gg>and-activated ion channels. The subunit encoded by this g>gg>ene is subject to RNA editing>gg> (CAg>Gg>->Cg>Gg>g>Gg>; Q->R) within the second transmembrane domain, which is thoug>gg>ht to alter the properties of ion flow. Alternative splicing>gg>, resulting>gg> in transcript variants encoding>gg> different isoforms, has been noted for this g>gg>ene. [provided by RefSeq, Jul 2008]

g>Gg>RIK2 Gene

g>gg>lutamate g>receptorg>, ionotropic, kainate 2

g>Gg>lutamate g>receptorg>s are the predominant excitatory neurotransmitter g>receptorg>s in the mammalian brain and are activated in a variety of normal neurophysiolog>gg>ic processes. This g>gg>ene product belong>gg>s to the kainate family of g>gg>lutamate g>receptorg>s, which are composed of four subunits and function as lig>gg>and-activated ion channels. The subunit encoded by this g>gg>ene is subject to RNA editing>gg> at multiple sites within the first and second transmembrane domains, which is thoug>gg>ht to alter the structure and function of the g>receptorg> complex. Alternatively spliced transcript variants encoding>gg> different isoforms have also been described for this g>gg>ene. Mutations in this g>gg>ene have been associated with autosomal recessive cog>gg>nitive disability. [provided by RefSeq, Jul 2008]

g>Gg>RIK3 Gene

g>gg>lutamate g>receptorg>, ionotropic, kainate 3

g>Gg>lutamate g>receptorg>s are the predominant excitatory neurotransmitter g>receptorg>s in the mammalian brain and are activated in a variety of normal neurophysiolog>gg>ic processes. This g>gg>ene product belong>gg>s to the kainate family of g>gg>lutamate g>receptorg>s, which are composed of four subunits and function as lig>gg>and-activated ion channels. It is not certain if the subunit encoded by this g>gg>ene is subject to RNA editing>gg> as the other 2 family members (g>Gg>RIK1 and g>Gg>RIK2). A Ser310Ala polymorphism has been associated with schizophrenia, and there are conflicting>gg> reports of its association with the pathog>gg>enesis of delirium tremens in alcoholics. [provided by RefSeq, Jul 2008]

g>Gg>RIK4 Gene

g>gg>lutamate g>receptorg>, ionotropic, kainate 4

This g>gg>ene encodes a protein that belong>gg>s to the g>gg>lutamate-g>gg>ated ionic channel family. g>Gg>lutamate functions as the major excitatory neurotransmitter in the central nervous system throug>gg>h activation of lig>gg>and-g>gg>ated ion channels and g>Gg> g>protein-coupledg> membrane g>receptorg>s. The protein encoded by this g>gg>ene forms functional heteromeric kainate-preferring>gg> ionic channels with the subunits encoded by related g>gg>ene family members. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Sep 2013]

g>Gg>RIK5 Gene

g>gg>lutamate g>receptorg>, ionotropic, kainate 5

This g>gg>ene encodes a protein that belong>gg>s to the g>gg>lutamate-g>gg>ated ionic channel family. g>Gg>lutamate functions as the major excitatory neurotransmitter in the central nervous system throug>gg>h activation of lig>gg>and-g>gg>ated ion channels and g>Gg> g>protein-coupledg> membrane g>receptorg>s. The protein encoded by this g>gg>ene forms functional heteromeric kainate-preferring>gg> ionic channels with the subunits encoded by related g>gg>ene family members. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2014]

g>Gg>LRA1 Gene

g>gg>lycine g>receptorg>, alpha 1

The protein encoded by this g>gg>ene is a subunit of a pentameric inhibitory g>gg>lycine g>receptorg>, which mediates postsynaptic inhibition in the central nervous system. Defects in this g>gg>ene are a cause of startle disease (STHE), also known as hereditary hyperekplexia or cong>gg>enital stiff-person syndrome. Multiple transcript variants encoding>gg> different isoforms have been found. [provided by RefSeq, Dec 2015]

XCR1 Gene

chemokine (C motif) g>receptorg> 1

The protein encoded by this g>gg>ene is a chemokine g>receptorg> belong>gg>ing>gg> to the g>Gg> g>protein-coupledg> g>receptorg> superfamily. The family members are characterized by the presence of 7 transmembrane domains. The encoded protein transduces a sig>gg>nal by increasing>gg> the intracellular calcium ion level. The viral macrophag>gg>e inflammatory protein-II is an antag>gg>onist of this g>receptorg> and blocks sig>gg>naling>gg>. Some studies have implicated a cluster of g>gg>enes at 3p21.31, including>gg> this g>gg>ene, as associated with COVID-19 risk. The encoded protein may also play a role in cell proliferation and mig>gg>ration in several types of cancer. [provided by RefSeq, Jan 2023]

XPR1 Gene

xenotropic and polytropic retrovirus g>receptorg> 1

The protein encoded by this g>gg>ene is a g>receptorg> for the xenotropic and polytropic classes of murine leukemia viruses. The encoded protein is involved in phosphate homeostasis by mediating>gg> phosphate export from the cell. Defects in this g>gg>ene have been associated with idiopathic basal g>gg>ang>gg>lia calcification-6. [provided by RefSeq, Jun 2016]

VN1R40P Gene

vomeronasal 1 g>receptorg> 40 pseudog>gg>ene

FOLR3P1 Gene

folate g>receptorg> 3 (g>gg>amma) pseudog>gg>ene 1

OR4A14P Gene

olfactory g>receptorg>, family 4, subfamily A, member 14 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7E158P Gene

olfactory g>receptorg>, family 7, subfamily E, member 158 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

CASR Gene

calcium-sensing>gg> g>receptorg>

The protein encoded by this g>gg>ene is a plasma membrane g>Gg> g>protein-coupledg> g>receptorg> that senses small chang>gg>es in circulating>gg> calcium concentration. The encoded protein couples this information to intracellular sig>gg>naling>gg> pathways that modify parathyroid hormone secretion or renal cation handling>gg>, and thus this protein plays an essential role in maintaining>gg> mineral ion homeostasis. Mutations in this g>gg>ene are a cause of familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. [provided by RefSeq, Aug>gg> 2017]

M6PR Gene

mannose-6-phosphate g>receptorg> (cation dependent)

This g>gg>ene encodes a member of the P-type lectin family. P-type lectins play a critical role in lysosome function throug>gg>h the specific transport of mannose-6-phosphate-containing>gg> acid hydrolases from the g>Gg>olg>gg>i complex to lysosomes. The encoded protein functions as a homodimer and requires divalent cations for lig>gg>and binding>gg>. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. A pseudog>gg>ene of this g>gg>ene is located on the long>gg> arm of chromosome X. [provided by RefSeq, May 2011]

LOC100421846 Gene

olfactory g>receptorg>, family 9, subfamily g>Gg>, member 4 pseudog>gg>ene

MST1R Gene

macrophag>gg>e stimulating>gg> 1 g>receptorg>

This g>gg>ene encodes a cell surface g>receptorg> for macrophag>gg>e-stimulating>gg> protein (MSP) with tyrosine kinase activity. The mature form of this protein is a heterodimer of disulfide-linked alpha and beta subunits, g>gg>enerated by proteolytic cleavag>gg>e of a sing>gg>le-chain precursor. The beta subunit underg>gg>oes tyrosine phosphorylation upon stimulation by MSP. This protein is expressed on the ciliated epithelia of the mucociliary transport apparatus of the lung>gg>, and tog>gg>ether with MSP, thoug>gg>ht to be involved in host defense. Alternative splicing>gg> g>gg>enerates multiple transcript variants encoding>gg> different isoforms that may underg>gg>o similar proteolytic processing>gg>. [provided by RefSeq, Jan 2016]

TRg>Gg>C1 Gene

T cell g>receptorg> g>gg>amma constant 1

Enables small molecule binding>gg> activity. Predicted to be involved in T cell g>receptorg> sig>gg>naling>gg> pathway; adaptive immune response; and g>gg>amma-delta T cell activation. Predicted to act upstream of or within homeostasis of number of cells within a tissue. Predicted to be located in membrane. Predicted to be part of g>gg>amma-delta T cell g>receptorg> complex. Predicted to be active in external side of plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRg>Gg>C2 Gene

T cell g>receptorg> g>gg>amma constant 2

Predicted to enable transmembrane sig>gg>naling>gg> g>receptorg> activity. Predicted to be involved in T cell g>receptorg> sig>gg>naling>gg> pathway and adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part of g>gg>amma-delta T cell g>receptorg> complex. Predicted to be active in external side of plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100288929 Gene

coxsackievirus and adenovirus g>receptorg>-like

TAS2R43 Gene

taste g>receptorg>, type 2, member 43

TAS2R43 belong>gg>s to the larg>gg>e TAS2R g>receptorg> family. TAS2Rs are expressed on the surface of taste g>receptorg> cells and mediate the perception of bitterness throug>gg>h a g>Gg> g>protein-coupledg> second messeng>gg>er pathway (Conte et al., 2002 [PubMed 12584440]). For further information on TAS2Rs, see MIM 604791.[supplied by OMIM, Mar 2009]

TAS2R42 Gene

taste g>receptorg>, type 2, member 42

Predicted to enable g>Gg> g>protein-coupledg> g>receptorg> activity and bitter taste g>receptorg> activity. Predicted to be involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway and detection of chemical stimulus involved in sensory perception of bitter taste. Located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TAS2R41 Gene

taste g>receptorg>, type 2, member 41

This g>gg>ene encodes a member of the bitter taste g>receptorg> family which belong>gg> to the g>Gg> g>protein-coupledg> g>receptorg> superfamily and are predominantly expressed in taste g>receptorg> cells of the tong>gg>ue and palate epithelia. This intronless taste g>receptorg> g>gg>ene encodes a seven-transmembrane g>receptorg> protein, functioning>gg> as a bitter taste g>receptorg>. This g>gg>ene is clustered tog>gg>ether with eig>gg>ht other taste g>receptorg> g>gg>enes on chromosome 7. Chloramphenicol is an ag>gg>onist for the encoded protein. [provided by RefSeq, Jul 2017]

TAS2R40 Gene

taste g>receptorg>, type 2, member 40

This g>gg>ene encodes a member of the bitter taste g>receptorg> family which belong>gg> to the g>Gg> g>protein-coupledg> g>receptorg> superfamily and are predominantly expressed in taste g>receptorg> cells of the tong>gg>ue and palate epithelia. This intronless taste g>receptorg> g>gg>ene encodes a seven-transmembrane g>receptorg> protein, functioning>gg> as a bitter taste g>receptorg>. This g>gg>ene is clustered tog>gg>ether with eig>gg>ht other taste g>receptorg> g>gg>enes on chromosome 7. A decrease in the expression of this g>gg>ene is associated with hypog>gg>eusia. [provided by RefSeq, Jul 2017]

TAS2R46 Gene

taste g>receptorg>, type 2, member 46

TAS2R46 belong>gg>s to the larg>gg>e TAS2R g>receptorg> family. TAS2Rs are expressed on the surface of taste g>receptorg> cells and mediate the perception of bitterness throug>gg>h a g>Gg> g>protein-coupledg> second messeng>gg>er pathway (Conte et al., 2002 [PubMed 12584440]). For further information on TAS2Rs, see MIM 604791.[supplied by OMIM, Sep 2009]

TAS2R45 Gene

taste g>receptorg>, type 2, member 45

Predicted to enable g>Gg> g>protein-coupledg> g>receptorg> activity and bitter taste g>receptorg> activity. Predicted to be involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway and detection of chemical stimulus involved in sensory perception of bitter taste. Located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR4A7P Gene

olfactory g>receptorg>, family 4, subfamily A, member 7 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR6R2P Gene

olfactory g>receptorg>, family 6, subfamily R, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR9g>Gg>3P Gene

olfactory g>receptorg>, family 9, subfamily g>Gg>, member 3 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4C1P Gene

olfactory g>receptorg>, family 4, subfamily C, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100421483 Gene

transforming>gg> g>gg>rowth factor, beta g>receptorg> 1 pseudog>gg>ene

LOC100418662 Gene

olfactory g>receptorg>, family 2, subfamily W, member 1 pseudog>gg>ene

LOC100418663 Gene

olfactory g>receptorg>, family 2, subfamily B, member 2 pseudog>gg>ene

LOC100418661 Gene

olfactory g>receptorg>, family 2, subfamily B, member 2 pseudog>gg>ene

LOC100418666 Gene

olfactory g>receptorg>, family 2, subfamily J, member 3 pseudog>gg>ene

LOC100418664 Gene

olfactory g>receptorg>, family 2, subfamily B, member 6 pseudog>gg>ene

LOC100418665 Gene

olfactory g>receptorg>, family 2, subfamily g>Gg>, member 6 pseudog>gg>ene

LOC100418668 Gene

olfactory g>receptorg>, family 2, subfamily W, member 1 pseudog>gg>ene

OR8K1 Gene

olfactory g>receptorg>, family 8, subfamily K, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR8K3 Gene

olfactory g>receptorg>, family 8, subfamily K, member 3 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]

OR1F2P Gene

olfactory g>receptorg>, family 1, subfamily F, member 2, pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR51I1 Gene

olfactory g>receptorg>, family 51, subfamily I, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR51I2 Gene

olfactory g>receptorg>, family 51, subfamily I, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R67P Gene

vomeronasal 1 g>receptorg> 67 pseudog>gg>ene

OR52I2 Gene

olfactory g>receptorg>, family 52, subfamily I, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR52I1 Gene

olfactory g>receptorg>, family 52, subfamily I, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10AC1 Gene

olfactory g>receptorg>, family 10, subfamily AC, member 1 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]

RARRES2 Gene

retinoic acid g>receptorg> responder (tazarotene induced) 2

This g>gg>ene encodes a secreted chemotactic protein that initiates chemotaxis via the ChemR23 g>Gg> g>protein-coupledg> seven-transmembrane domain lig>gg>and. Expression of this g>gg>ene is upreg>gg>ulated by the synthetic retinoid tazarotene and occurs in a wide variety of tissues. The active protein has several roles, including>gg> that as an adipokine and as an antimicrobial protein with activity ag>gg>ainst bacteria and fung>gg>i. [provided by RefSeq, Nov 2014]

RARRES3 Gene

retinoic acid g>receptorg> responder (tazarotene induced) 3

Retinoids exert biolog>gg>ic effects such as potent g>gg>rowth inhibitory and cell differentiation activities and are used in the treatment of hyperproliferative dermatolog>gg>ical diseases. These effects are mediated by specific nuclear g>receptorg> proteins that are members of the steroid and thyroid hormone g>receptorg> superfamily of transcriptional reg>gg>ulators. RARRES1, RARRES2, and RARRES3 are g>gg>enes whose expression is upreg>gg>ulated by the synthetic retinoid tazarotene. RARRES3 is thoug>gg>ht act as a tumor suppressor or g>gg>rowth reg>gg>ulator. [provided by RefSeq, Jul 2008]

RARRES1 Gene

retinoic acid g>receptorg> responder (tazarotene induced) 1

This g>gg>ene was identified as a retinoid acid (RA) g>receptorg>-responsive g>gg>ene. It encodes a type 1 membrane protein. The expression of this g>gg>ene is upreg>gg>ulated by tazarotene as well as by retinoic acid g>receptorg>s. The expression of this g>gg>ene is found to be downreg>gg>ulated in prostate cancer, which is caused by the methylation of its promoter and Cpg>Gg> island. Alternatively spliced transcript variant encoding>gg> distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

OR5I1 Gene

olfactory g>receptorg>, family 5, subfamily I, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7D1P Gene

olfactory g>receptorg>, family 7, subfamily D, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRAV38-2DV8 Gene

T cell g>receptorg> alpha variable 38-2/delta variable 8

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

OR7A15P Gene

olfactory g>receptorg>, family 7, subfamily A, member 15 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4M2 Gene

olfactory g>receptorg>, family 4, subfamily M, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4M1 Gene

olfactory g>receptorg>, family 4, subfamily M, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

SCTR Gene

secretin g>receptorg>

The protein encoded by this g>gg>ene is a g>Gg> g>protein-coupledg> g>receptorg> and belong>gg>s to the g>gg>lucag>gg>on-VIP-secretin g>receptorg> family. It binds secretin which is the most potent reg>gg>ulator of pancreatic bicarbonate, electrolyte and volume secretion. Secretin and its g>receptorg> are sug>gg>g>gg>ested to be involved in pancreatic cancer and autism. [provided by RefSeq, Jul 2008]

OR11K1P Gene

olfactory g>receptorg>, family 11, subfamily K, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OXER1 Gene

oxoeicosanoid (OXE) g>receptorg> 1

Enables g>Gg> g>protein-coupledg> g>receptorg> activity and icosanoid binding>gg> activity. Involved in adenylate cyclase-inhibiting>gg> g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR4K11P Gene

olfactory g>receptorg>, family 4, subfamily K, member 11 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRBV6-4 Gene

T cell g>receptorg> beta variable 6-4

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV6-1 Gene

T cell g>receptorg> beta variable 6-1

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

HMMR Gene

hyaluronan-mediated motility g>receptorg> (RHAMM)

The protein encoded by this g>gg>ene is involved in cell motility. It is expressed in breast tissue and tog>gg>ether with other proteins, it forms a complex with BRCA1 and BRCA2, thus is potentially associated with hig>gg>her risk of breast cancer. Alternatively spliced transcript variants encoding>gg> different isoforms have been noted for this g>gg>ene. [provided by RefSeq, Dec 2008]

OR5M14P Gene

olfactory g>receptorg>, family 5, subfamily M, member 14 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LTB4R Gene

leukotriene B4 g>receptorg>

Predicted to enable g>Gg> g>protein-coupledg> peptide g>receptorg> activity and leukotriene B4 g>receptorg> activity. Predicted to be involved in neuropeptide sig>gg>naling>gg> pathway. Predicted to act upstream of or within sig>gg>nal transduction. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

EPS15 Gene

epidermal g>gg>rowth factor g>receptorg> pathway substrate 15

This g>gg>ene encodes a protein that is part of the Eg>Gg>FR pathway. The protein is present at clatherin-coated pits and is involved in g>receptorg>-mediated endocytosis of Eg>Gg>F. Notably, this g>gg>ene is rearrang>gg>ed with the HRX/ALL/MLL g>gg>ene in acute myelog>gg>eneous leukemias. Alternative splicing>gg> results in multiple transcript variants encoding>gg> distinct isoforms. [provided by RefSeq, May 2009]

OR14A2 Gene

olfactory g>receptorg>, family 14, subfamily A, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR1g>Gg>1 Gene

olfactory g>receptorg>, family 1, subfamily g>Gg>, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

C1DP4 Gene

C1D nuclear g>receptorg> corepressor pseudog>gg>ene 4

VIPR2 Gene

vasoactive intestinal peptide g>receptorg> 2

This g>gg>ene encodes a g>receptorg> for vasoactive intestinal peptide, a small neuropeptide. Vasoactive intestinal peptide is involved in smooth muscle relaxation, exocrine and endocrine secretion, and water and ion flux in lung>gg> and intestinal epithelia. Its actions are effected throug>gg>h integ>gg>ral membrane g>receptorg>s associated with a g>gg>uanine nucleotide binding>gg> protein which activates adenylate cyclase. [provided by RefSeq, Aug>gg> 2011]

VIPR1 Gene

vasoactive intestinal peptide g>receptorg> 1

This g>gg>ene encodes a g>receptorg> for vasoactive intestinal peptide, a small neuropeptide. Vasoactive intestinal peptide is involved in smooth muscle relaxation, exocrine and endocrine secretion, and water and ion flux in lung>gg> and intestinal epithelia. Its actions are effected throug>gg>h integ>gg>ral membrane g>receptorg>s associated with a g>gg>uanine nucleotide binding>gg> protein which activates adenylate cyclase. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Oct 2011]

KLRAP1 Gene

killer cell lectin-like g>receptorg> subfamily A pseudog>gg>ene 1

OR5BK1P Gene

olfactory g>receptorg>, family 5, subfamily BK, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN2R3P Gene

vomeronasal 2 g>receptorg> 3 pseudog>gg>ene

OR10T2 Gene

olfactory g>receptorg>, family 10, subfamily T, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100422135 Gene

olfactory g>receptorg>, family 4, subfamily C, member 46 pseudog>gg>ene

VN1R83P Gene

vomeronasal 1 g>receptorg> 83 pseudog>gg>ene

OR8L1P Gene

olfactory g>receptorg>, family 8, subfamily L, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

HTR7P1 Gene

5-hydroxytryptamine (serotonin) g>receptorg> 7 pseudog>gg>ene 1

OR7E85P Gene

olfactory g>receptorg>, family 7, subfamily E, member 85 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR6B1 Gene

olfactory g>receptorg>, family 6, subfamily B, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR6B2 Gene

olfactory g>receptorg>, family 6, subfamily B, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR6B3 Gene

olfactory g>receptorg>, family 6, subfamily B, member 3

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R16P Gene

vomeronasal 1 g>receptorg> 16 pseudog>gg>ene

OR7E14P Gene

olfactory g>receptorg>, family 7, subfamily E, member 14 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC105375807 Gene

ephrin type-B g>receptorg> 6-like

SSR1P1 Gene

sig>gg>nal sequence g>receptorg>, alpha pseudog>gg>ene 1

CD36 Gene

CD36 molecule (thrombospondin g>receptorg>)

The protein encoded by this g>gg>ene is the fourth major g>gg>lycoprotein of the platelet surface and serves as a g>receptorg> for thrombospondin in platelets and various cell lines. Since thrombospondins are widely distributed proteins involved in a variety of adhesive processes, this protein may have important functions as a cell adhesion molecule. It binds to collag>gg>en, thrombospondin, anionic phospholipids and oxidized LDL. It directly mediates cytoadherence of Plasmodium falciparum parasitized erythrocytes and it binds long>gg> chain fatty acids and may function in the transport and/or as a reg>gg>ulator of fatty acid transport. Mutations in this g>gg>ene cause platelet g>gg>lycoprotein deficiency. Multiple alternatively spliced transcript variants have been found for this g>gg>ene. [provided by RefSeq, Feb 2014]

OR52K3P Gene

olfactory g>receptorg>, family 52, subfamily K, member 3 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7E38P Gene

olfactory g>receptorg>, family 7, subfamily E, member 38 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7A2P Gene

olfactory g>receptorg>, family 7, subfamily A, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR9K2 Gene

olfactory g>receptorg>, family 9, subfamily K, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100422177 Gene

olfactory g>receptorg>, family 10, subfamily Q, member 1 pseudog>gg>ene

LOC100422176 Gene

olfactory g>receptorg>, family 4, subfamily D, member 11 pseudog>gg>ene

LOC100422174 Gene

olfactory g>receptorg>, family 5, subfamily AK, member 2 pseudog>gg>ene

LOC100422173 Gene

olfactory g>receptorg>, family 5, subfamily D, member 13 pseudog>gg>ene

LOC100422171 Gene

olfactory g>receptorg>, family 4, subfamily A, member 15 pseudog>gg>ene

LOC100422170 Gene

olfactory g>receptorg>, family 4, subfamily A, member 16 pseudog>gg>ene

LOC100422178 Gene

olfactory g>receptorg>, family 10, subfamily Q, member 1 pseudog>gg>ene

OR5D3P Gene

olfactory g>receptorg>, family 5, subfamily D, member 3 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

FCg>Gg>R3A Gene

Fc frag>gg>ment of Ig>gg>g>Gg>, low affinity IIIa, g>receptorg> (CD16a)

This g>gg>ene encodes a g>receptorg> for the Fc portion of immunog>gg>lobulin g>Gg>, and it is involved in the removal of antig>gg>en-antibody complexes from the circulation, as well as other responses, including>gg> antibody dependent cellular mediated cytotoxicity and antibody dependent enhancement of virus infections. This g>gg>ene (FCg>Gg>R3A) is hig>gg>hly similar to another nearby g>gg>ene (FCg>Gg>R3B) located on chromosome 1. The g>receptorg> encoded by this g>gg>ene is expressed on natural killer (NK) cells as an integ>gg>ral membrane g>gg>lycoprotein anchored throug>gg>h a transmembrane peptide, whereas FCg>Gg>R3B is expressed on polymorphonuclear neutrophils (PMN) where the g>receptorg> is anchored throug>gg>h a phosphatidylinositol (PI) linkag>gg>e. Mutations in this g>gg>ene are associated with immunodeficiency 20, and have been linked to susceptibility to recurrent viral infections, susceptibility to systemic lupus erythematosus, and alloimmune neonatal neutropenia. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Aug>gg> 2020]

FCg>Gg>R3B Gene

Fc frag>gg>ment of Ig>gg>g>Gg>, low affinity IIIb, g>receptorg> (CD16b)

The protein encoded by this g>gg>ene is a low affinity g>receptorg> for the Fc reg>gg>ion of g>gg>amma immunog>gg>lobulins (Ig>gg>g>Gg>). The encoded protein acts as a monomer and can bind either monomeric or ag>gg>g>gg>reg>gg>ated Ig>gg>g>Gg>. This g>gg>ene may function to capture immune complexes in the peripheral circulation. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. A hig>gg>hly-similar g>gg>ene encoding>gg> a related protein is also found on chromosome 1. [provided by RefSeq, Aug>gg> 2012]

VN1R36P Gene

vomeronasal 1 g>receptorg> 36 pseudog>gg>ene

CCR10 Gene

chemokine (C-C motif) g>receptorg> 10

Chemokines are a g>gg>roup of small (approximately 8 to 14 kD), mostly basic, structurally related molecules that reg>gg>ulate cell trafficking>gg> of various types of leukocytes throug>gg>h interactions with a subset of 7-transmembrane, g>Gg> g>protein-coupledg> g>receptorg>s. Chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in ang>gg>iog>gg>enesis or ang>gg>iostasis. Chemokines are divided into 2 major subfamilies, CXC and CC, based on the arrang>gg>ement of the first 2 of the 4 conserved cysteine residues; the 2 cysteines are separated by a sing>gg>le amino acid in CXC chemokines and are adjacent in CC chemokines. CCR10 is the g>receptorg> for CCL27 (SCYA27; MIM 604833); CCR10-CCL27 interactions are involved in T cell-mediated skin inflammation (Homey et al., 2002 [PubMed 11821900]).[supplied by OMIM, Mar 2008]

OR51A4 Gene

olfactory g>receptorg>, family 51, subfamily A, member 4

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

ANXA2R Gene

annexin A2 g>receptorg>

Predicted to enable sig>gg>naling>gg> g>receptorg> activity. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC390614 Gene

relaxin/insulin-like family peptide g>receptorg> 3 pseudog>gg>ene

OR52A1 Gene

olfactory g>receptorg>, family 52, subfamily A, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

EBAg>Gg>9P1 Gene

estrog>gg>en g>receptorg> binding>gg> site associated, antig>gg>en, 9 pseudog>gg>ene 1

OR2W6P Gene

olfactory g>receptorg>, family 2, subfamily W, member 6 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRAF1 Gene

TNF g>receptorg>-associated factor 1

The protein encoded by this g>gg>ene is a member of the TNF g>receptorg> (TNFR) associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the sig>gg>nal transduction from various g>receptorg>s of the TNFR superfamily. This protein and TRAF2 form a heterodimeric complex, which is required for TNF-alpha-mediated activation of MAPK8/JNK and NF-kappaB. The protein complex formed by this protein and TRAF2 also interacts with inhibitor-of-apoptosis proteins (IAPs), and thus mediates the anti-apoptotic sig>gg>nals from TNF g>receptorg>s. The expression of this protein can be induced by Epstein-Barr virus (EBV). EBV infection membrane protein 1 (LMP1) is found to interact with this and other TRAF proteins; this interaction is thoug>gg>ht to link LMP1-mediated B lymphocyte transformation to the sig>gg>nal transduction from TNFR family g>receptorg>s. Three transcript variants encoding>gg> two different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2010]

TRAF2 Gene

TNF g>receptorg>-associated factor 2

The protein encoded by this g>gg>ene is a member of the TNF g>receptorg> associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the sig>gg>nal transduction from members of the TNF g>receptorg> superfamily. This protein directly interacts with TNF g>receptorg>s, and forms a heterodimeric complex with TRAF1. This protein is required for TNF-alpha-mediated activation of MAPK8/JNK and NF-kappaB. The protein complex formed by this protein and TRAF1 interacts with the inhibitor-of-apoptosis proteins (IAPs), and functions as a mediator of the anti-apoptotic sig>gg>nals from TNF g>receptorg>s. The interaction of this protein with TRADD, a TNF g>receptorg> associated apoptotic sig>gg>nal transducer, ensures the recruitment of IAPs for the direct inhibition of caspase activation. BIRC2/c-IAP1, an apoptosis inhibitor possessing>gg> ubiquitin lig>gg>ase activity, can unbiquitinate and induce the deg>gg>radation of this protein, and thus potentiate TNF-induced apoptosis. Multiple alternatively spliced transcript variants have been found for this g>gg>ene, but the biolog>gg>ical validity of only one transcript has been determined. [provided by RefSeq, Jul 2008]

TRAF3 Gene

TNF g>receptorg>-associated factor 3

The protein encoded by this g>gg>ene is a member of the TNF g>receptorg> associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the sig>gg>nal transduction from, members of the TNF g>receptorg> (TNFR) superfamily. This protein participates in the sig>gg>nal transduction of CD40, a TNFR family member important for the activation of the immune response. This protein is found to be a critical component of the lymphotoxin-beta g>receptorg> (LTbetaR) sig>gg>naling>gg> complex, which induces NF-kappaB activation and cell death initiated by LTbeta lig>gg>ation. Epstein-Barr virus encoded latent infection membrane protein-1 (LMP1) can interact with this and several other members of the TRAF family, which may be essential for the oncog>gg>enic effects of LMP1. The protein also plays a role in the reg>gg>ulation of antiviral response. Mutations in this are associated with Encephalopathy, acute, infection-induced, herpes-specific 5. [provided by RefSeq, Jul 2020]

TRAF4 Gene

TNF g>receptorg>-associated factor 4

This g>gg>ene encodes a member of the TNF g>receptorg> associated factor (TRAF) family. TRAF proteins are associated with, and mediate sig>gg>nal transduction from members of the TNF g>receptorg> superfamily. The encoded protein has been shown to interact with neurotrophin g>receptorg>, p75 (NTR/NTSR1), and neg>gg>atively reg>gg>ulate NTR induced cell death and NF-kappa B activation. This protein has been found to bind to p47phox, a cytosolic reg>gg>ulatory factor included in a multi-protein complex known as NAD(P)H oxidase. This protein thus, is thoug>gg>ht to be involved in the oxidative activation of MAPK8/JNK. Alternatively spliced transcript variants have been observed but the full-leng>gg>th nature of only one has been determined. [provided by RefSeq, Jul 2008]

TRAF5 Gene

TNF g>receptorg>-associated factor 5

The scaffold protein encoded by this g>gg>ene is a member of the tumor necrosis factor g>receptorg>-associated factor (TRAF) protein family and contains a meprin and TRAF homolog>gg>y (MATH) domain, a RINg>Gg>-type zinc fing>gg>er, and two TRAF-type zinc fing>gg>ers. TRAF proteins are associated with, and mediate sig>gg>nal transduction from members of the TNF g>receptorg> superfamily. This protein is one of the components of a multiple protein complex which binds to tumor necrosis factor (TNF) g>receptorg> cytoplasmic domains and mediates TNF-induced activation. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jan 2016]

NPR2 Gene

natriuretic peptide g>receptorg> 2

This g>gg>ene encodes natriuretic peptide g>receptorg> B, one of two integ>gg>ral membrane g>receptorg>s for natriuretic peptides. Both NPR1 and NPR2 contain five functional domains: an extracellular lig>gg>and-binding>gg> domain, a sing>gg>le membrane-spanning>gg> reg>gg>ion, and intracellularly a protein kinase homolog>gg>y domain, a helical hing>gg>e reg>gg>ion involved in olig>gg>omerization, and a carboxyl-terminal g>gg>uanylyl cyclase catalytic domain. The protein is the primary g>receptorg> for C-type natriuretic peptide (CNP), which upon lig>gg>and binding>gg> exhibits g>gg>reatly increased g>gg>uanylyl cyclase activity. Mutations in this g>gg>ene are the cause of acromesomelic dysplasia Maroteaux type. [provided by RefSeq, Jul 2008]

NPR3 Gene

natriuretic peptide g>receptorg> 3

This g>gg>ene encodes one of three natriuretic peptide g>receptorg>s. Natriutetic peptides are small peptides which reg>gg>ulate blood volume and pressure, pulmonary hypertension, and cardiac function as well as some metabolic and g>gg>rowth processes. The product of this g>gg>ene encodes a natriuretic peptide g>receptorg> responsible for clearing>gg> circulating>gg> and extracellular natriuretic peptides throug>gg>h endocytosis of the g>receptorg>. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene.[provided by RefSeq, Feb 2011]

OR5A2 Gene

olfactory g>receptorg>, family 5, subfamily A, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5A1 Gene

olfactory g>receptorg>, family 5, subfamily A, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

g>Gg>RM8 Gene

g>gg>lutamate g>receptorg>, metabotropic 8

L-g>gg>lutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic g>gg>lutamate g>receptorg>s. g>Gg>lutamaterg>gg>ic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropatholog>gg>ic conditions. The metabotropic g>gg>lutamate g>receptorg>s are a family of g>Gg> g>protein-coupledg> g>receptorg>s, that have been divided into 3 g>gg>roups on the basis of sequence homolog>gg>y, putative sig>gg>nal transduction mechanisms, and pharmacolog>gg>ic properties. g>Gg>roup I includes g>Gg>RM1 and g>Gg>RM5 and these g>receptorg>s have been shown to activate phospholipase C. g>Gg>roup II includes g>Gg>RM2 and g>Gg>RM3 while g>Gg>roup III includes g>Gg>RM4, g>Gg>RM6, g>Gg>RM7 and g>Gg>RM8. g>Gg>roup II and III g>receptorg>s are linked to the inhibition of the cyclic AMP cascade but differ in their ag>gg>onist selectivities. Alternatively spliced transcript variants encoding>gg> different isoforms have been described for this g>gg>ene. [provided by RefSeq, Jul 2008]

g>Gg>RM4 Gene

g>gg>lutamate g>receptorg>, metabotropic 4

L-g>gg>lutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic g>gg>lutamate g>receptorg>s. g>Gg>lutamaterg>gg>ic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropatholog>gg>ic conditions. The metabotropic g>gg>lutamate g>receptorg>s are a family of g>Gg> g>protein-coupledg> g>receptorg>s, that have been divided into 3 g>gg>roups on the basis of sequence homolog>gg>y, putative sig>gg>nal transduction mechanisms, and pharmacolog>gg>ic properties. g>Gg>roup I includes g>Gg>RM1 and g>Gg>RM5 and these g>receptorg>s have been shown to activate phospholipase C. g>Gg>roup II includes g>Gg>RM2 and g>Gg>RM3 while g>Gg>roup III includes g>Gg>RM4, g>Gg>RM6, g>Gg>RM7 and g>Gg>RM8. g>Gg>roup II and III g>receptorg>s are linked to the inhibition of the cyclic AMP cascade but differ in their ag>gg>onist selectivities. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Feb 2012]

g>Gg>RM5 Gene

g>gg>lutamate g>receptorg>, metabotropic 5

This g>gg>ene encodes a member of the g>Gg>-protein coupled g>receptorg> 3 protein family. The encoded protein is a metabatropic g>gg>lutamate g>receptorg>, whose sig>gg>naling>gg> activates a phosphatidylinositol-calcium second messeng>gg>er system. This protein may be involved in the reg>gg>ulation of neural network activity and synaptic plasticity. g>Gg>lutamaterg>gg>ic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropatholog>gg>ic conditions. A pseudog>gg>ene of this g>gg>ene has been defined on chromosome 11. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, May 2014]

g>Gg>RM6 Gene

g>gg>lutamate g>receptorg>, metabotropic 6

L-g>gg>lutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic g>gg>lutamate g>receptorg>s. g>Gg>lutamaterg>gg>ic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropatholog>gg>ic conditions. The metabotropic g>gg>lutamate g>receptorg>s are a family of g>Gg> g>protein-coupledg> g>receptorg>s, that have been divided into 3 g>gg>roups on the basis of sequence homolog>gg>y, putative sig>gg>nal transduction mechanisms, and pharmacolog>gg>ic properties. g>Gg>roup I includes g>Gg>RM1 and g>Gg>RM5 and these g>receptorg>s have been shown to activate phospholipase C. g>Gg>roup II includes g>Gg>RM2 and g>Gg>RM3 while g>Gg>roup III includes g>Gg>RM4, g>Gg>RM6, g>Gg>RM7 and g>Gg>RM8. g>Gg>roup II and III g>receptorg>s are linked to the inhibition of the cyclic AMP cascade but differ in their ag>gg>onist selectivities. Mutations in this g>gg>ene result in cong>gg>enital stationary nig>gg>ht blindness type 1B. [provided by RefSeq, May 2018]

g>Gg>RM7 Gene

g>gg>lutamate g>receptorg>, metabotropic 7

L-g>gg>lutamate is the major excitatory neurotransmitter in the central nervous system, and it activates both ionotropic and metabotropic g>gg>lutamate g>receptorg>s. g>Gg>lutamaterg>gg>ic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropatholog>gg>ic conditions. The metabotropic g>gg>lutamate g>receptorg>s are a family of g>Gg> g>protein-coupledg> g>receptorg>s that have been divided into three g>gg>roups on the basis of sequence homolog>gg>y, putative sig>gg>nal transduction mechanisms, and pharmacolog>gg>ic properties. g>Gg>roup I includes g>Gg>RM1 and g>Gg>RM5, and these g>receptorg>s have been shown to activate phospholipase C. g>Gg>roup II includes g>Gg>RM2 and g>Gg>RM3, while g>Gg>roup III includes g>Gg>RM4, g>Gg>RM6, g>Gg>RM7 and g>Gg>RM8. g>Gg>roup II and III g>receptorg>s are linked to the inhibition of the cyclic AMP cascade but differ in their ag>gg>onist selectivities. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jun 2009]

g>Gg>RM1 Gene

g>gg>lutamate g>receptorg>, metabotropic 1

This g>gg>ene encodes a metabotropic g>gg>lutamate g>receptorg> that functions by activating>gg> phospholipase C. L-g>gg>lutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic g>gg>lutamate g>receptorg>s. g>Gg>lutamaterg>gg>ic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropatholog>gg>ic conditions. The canonical alpha isoform of the encoded protein is a disulfide-linked homodimer whose activity is mediated by a g>Gg>-g>protein-coupledg> phosphatidylinositol-calcium second messeng>gg>er system. This g>gg>ene may be associated with many disease states, including>gg> schizophrenia, bipolar disorder, depression, and breast cancer. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, May 2013]

g>Gg>RM2 Gene

g>gg>lutamate g>receptorg>, metabotropic 2

L-g>gg>lutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic g>gg>lutamate g>receptorg>s. g>Gg>lutamaterg>gg>ic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropatholog>gg>ic conditions. The metabotropic g>gg>lutamate g>receptorg>s are a family of g>Gg> g>protein-coupledg> g>receptorg>s, that have been divided into 3 g>gg>roups on the basis of sequence homolog>gg>y, putative sig>gg>nal transduction mechanisms, and pharmacolog>gg>ic properties. g>Gg>roup I includes g>Gg>RM1 and g>Gg>RM5 and these g>receptorg>s have been shown to activate phospholipase C. g>Gg>roup II includes g>Gg>RM2 and g>Gg>RM3 while g>Gg>roup III includes g>Gg>RM4, g>Gg>RM6, g>Gg>RM7 and g>Gg>RM8. g>Gg>roup II and III g>receptorg>s are linked to the inhibition of the cyclic AMP cascade but differ in their ag>gg>onist selectivities. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Mar 2017]

g>Gg>RM3 Gene

g>gg>lutamate g>receptorg>, metabotropic 3

L-g>gg>lutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic g>gg>lutamate g>receptorg>s. g>Gg>lutamaterg>gg>ic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropatholog>gg>ic conditions. The metabotropic g>gg>lutamate g>receptorg>s are a family of g>Gg> g>protein-coupledg> g>receptorg>s, that have been divided into 3 g>gg>roups on the basis of sequence homolog>gg>y, putative sig>gg>nal transduction mechanisms, and pharmacolog>gg>ic properties. g>Gg>roup I includes g>Gg>RM1 and g>Gg>RM5 and these g>receptorg>s have been shown to activate phospholipase C. g>Gg>roup II includes g>Gg>RM2 and g>Gg>RM3 while g>Gg>roup III includes g>Gg>RM4, g>Gg>RM6, g>Gg>RM7 and g>Gg>RM8. g>Gg>roup II and III g>receptorg>s are linked to the inhibition of the cyclic AMP cascade but differ in their ag>gg>onist selectivities. [provided by RefSeq, Jul 2008]

OR4E2 Gene

olfactory g>receptorg>, family 4, subfamily E, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4E1 Gene

olfactory g>receptorg>, family 4, subfamily E, member 1 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4C4P Gene

olfactory g>receptorg>, family 4, subfamily C, member 4 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

NR2F6 Gene

nuclear g>receptorg> subfamily 2, g>gg>roup F, member 6

Enables DNA-binding>gg> transcription factor activity and sequence-specific double-stranded DNA binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II. Located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NR2F1 Gene

nuclear g>receptorg> subfamily 2, g>gg>roup F, member 1

The protein encoded by this g>gg>ene is a nuclear hormone g>receptorg> and transcriptional reg>gg>ulator. The encoded protein acts as a homodimer and binds to 5'-Ag>Gg>g>Gg>TCA-3' repeats. Defects in this g>gg>ene are a cause of Bosch-Boonstra optic atrophy syndrome (BBOAS). [provided by RefSeq, Apr 2014]

NR2F2 Gene

nuclear g>receptorg> subfamily 2, g>gg>roup F, member 2

This g>gg>ene encodes a member of the steroid thyroid hormone superfamily of nuclear g>receptorg>s. The encoded protein is a lig>gg>and inducible transcription factor that is involved in the reg>gg>ulation of many different g>gg>enes. Alternate splicing>gg> results in multiple transcript variants. [provided by RefSeq, Mar 2010]

OR4C46 Gene

olfactory g>receptorg>, family 4, subfamily C, member 46

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4C45 Gene

olfactory g>receptorg>, family 4, subfamily C, member 45

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR1R1P Gene

olfactory g>receptorg>, family 1, subfamily R, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR8B7P Gene

olfactory g>receptorg>, family 8, subfamily B, member 7 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TAS2R62P Gene

taste g>receptorg>, type 2, member 62, pseudog>gg>ene

OR4K7P Gene

olfactory g>receptorg>, family 4, subfamily K, member 7 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TSHR Gene

thyroid stimulating>gg> hormone g>receptorg>

The protein encoded by this g>gg>ene is a membrane protein and a major controller of thyroid cell metabolism. The encoded protein is a g>receptorg> for thyrothropin and thyrostimulin, and its activity is mediated by adenylate cyclase. Defects in this g>gg>ene are a cause of several types of hyperthyroidism. Three transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Dec 2008]

OR14I1 Gene

olfactory g>receptorg>, family 14, subfamily I, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4X1 Gene

olfactory g>receptorg>, family 4, subfamily X, member 1 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]

OR4X2 Gene

olfactory g>receptorg>, family 4, subfamily X, member 2 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]

OR10J9P Gene

olfactory g>receptorg>, family 10, subfamily J, member 9 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LTBR Gene

lymphotoxin beta g>receptorg> (TNFR superfamily, member 3)

This g>gg>ene encodes a member of the tumor necrosis factor g>receptorg> superfamily. The major lig>gg>ands of this g>receptorg> include lymphotoxin alpha/beta and tumor necrosis factor lig>gg>and superfamily member 14. The encoded protein plays a role in sig>gg>nalling>gg> during>gg> the development of lymphoid and other org>gg>ans, lipid metabolism, immune response, and prog>gg>rammed cell death. Activity of this g>receptorg> has also been linked to carcinog>gg>enesis. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed. [provided by RefSeq, Aug>gg> 2012]

SRPRB Gene

sig>gg>nal recog>gg>nition particle g>receptorg>, B subunit

The protein encoded by this g>gg>ene has similarity to mouse protein which is a subunit of the sig>gg>nal recog>gg>nition particle g>receptorg> (SR). This subunit is a transmembrane g>Gg>TPase belong>gg>ing>gg> to the g>Gg>TPase superfamily. It anchors alpha subunit, a peripheral membrane g>Gg>TPase, to the ER membrane. SR is required for the cotranslational targ>gg>eting>gg> of both secretory and membrane proteins to the ER membrane. [provided by RefSeq, Jul 2008]

OR7E116P Gene

olfactory g>receptorg>, family 7, subfamily E, member 116 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R53P Gene

vomeronasal 1 g>receptorg> 53 pseudog>gg>ene

IL23R Gene

interleukin 23 g>receptorg>

The protein encoded by this g>gg>ene is a subunit of the g>receptorg> for IL23A/IL23. This protein pairs with the g>receptorg> molecule IL12RB1/IL12Rbeta1, and both are required for IL23A sig>gg>naling>gg>. This protein associates constitutively with Janus kinase 2 (JAK2), and also binds to transcription activator STAT3 in a lig>gg>and-dependent manner. [provided by RefSeq, Jul 2008]

OR6C64P Gene

olfactory g>receptorg>, family 6, subfamily C, member 64 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5AS1 Gene

olfactory g>receptorg>, family 5, subfamily AS, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5AZ1P Gene

olfactory g>receptorg>, family 5, subfamily AZ, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R98P Gene

vomeronasal 1 g>receptorg> 98 pseudog>gg>ene

OR11J1P Gene

olfactory g>receptorg>, family 11, subfamily J, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100124401 Gene

cytokine g>receptorg>-like factor 3 pseudog>gg>ene

LOC100418660 Gene

olfactory g>receptorg>, family 2, subfamily J, member 3 pseudog>gg>ene

LOC100418667 Gene

olfactory g>receptorg>, family 2, subfamily Y, member 1 pseudog>gg>ene

LOC100131261 Gene

proline-rich nuclear g>receptorg> coactivator 2 pseudog>gg>ene

OR7E4P Gene

olfactory g>receptorg>, family 7, subfamily E, member 4 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5H3P Gene

olfactory g>receptorg>, family 5, subfamily H, member 3 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR6L1P Gene

olfactory g>receptorg>, family 6, subfamily L, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100421864 Gene

olfactory g>receptorg>, family 7, subfamily D, member 2 pseudog>gg>ene

TRBV28 Gene

T cell g>receptorg> beta variable 28

Predicted to enable peptide antig>gg>en binding>gg> activity. Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV26 Gene

T cell g>receptorg> beta variable 26 (pseudog>gg>ene)

IRS3P Gene

insulin g>receptorg> substrate 3, pseudog>gg>ene

Predicted to enable phosphatidylinositol 3-kinase activator activity and phosphatidylinositol 3-kinase binding>gg> activity. Predicted to be involved in positive reg>gg>ulation of phosphatidylinositol 3-kinase/protein kinase B sig>gg>nal transduction. Predicted to be located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR8K5 Gene

olfactory g>receptorg>, family 8, subfamily K, member 5

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

NR4A2 Gene

nuclear g>receptorg> subfamily 4, g>gg>roup A, member 2

This g>gg>ene encodes a member of the steroid-thyroid hormone-retinoid g>receptorg> superfamily. The encoded protein may act as a transcription factor. Mutations in this g>gg>ene have been associated with disorders related to dopaminerg>gg>ic dysfunction, including>gg> Parkinson disease, schizophernia, and manic depression. Misreg>gg>ulation of this g>gg>ene may be associated with rheumatoid arthritis. Alternatively spliced transcript variants have been described, but their biolog>gg>ical validity has not been determined. [provided by RefSeq, Jul 2008]

NR4A3 Gene

nuclear g>receptorg> subfamily 4, g>gg>roup A, member 3

This g>gg>ene encodes a member of the steroid-thyroid hormone-retinoid g>receptorg> superfamily. The encoded protein may act as a transcriptional activator. The protein can efficiently bind the Ng>Gg>FI-B Response Element (NBRE). Three different versions of extraskeletal myxoid chondrosarcomas (EMCs) are the result of reciprocal translocations between this g>gg>ene and other g>gg>enes. The translocation breakpoints are associated with Nuclear g>Receptorg> Subfamily 4, g>Gg>roup A, Member 3 (on chromosome 9) and either Ewing>gg> Sarcome Breakpoint Reg>gg>ion 1 (on chromosome 22), RNA Polymerase II, TATA Box-Binding>gg> Protein-Associated Factor, 68-KD (on chromosome 17), or Transcription factor 12 (on chromosome 15). Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Mar 2010]

NR4A1 Gene

nuclear g>receptorg> subfamily 4, g>gg>roup A, member 1

This g>gg>ene encodes a member of the steroid-thyroid hormone-retinoid g>receptorg> superfamily. Expression is induced by phytohemag>gg>g>gg>lutinin in human lymphocytes and by serum stimulation of arrested fibroblasts. The encoded protein acts as a nuclear transcription factor. Translocation of the protein from the nucleus to mitochondria induces apoptosis. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jan 2011]

OR6J1 Gene

olfactory g>receptorg>, family 6, subfamily J, member 1 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]

OR7E23P Gene

olfactory g>receptorg>, family 7, subfamily E, member 23 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

EPHB2 Gene

EPH g>receptorg> B2

This g>gg>ene encodes a member of the Eph g>receptorg> family of g>receptorg> tyrosine kinase transmembrane g>gg>lycoproteins. These g>receptorg>s are composed of an N-terminal g>gg>lycosylated lig>gg>and-binding>gg> domain, a transmembrane reg>gg>ion and an intracellular kinase domain. They bind lig>gg>ands called ephrins and are involved in diverse cellular processes including>gg> motility, division, and differentiation. A disting>gg>uishing>gg> characteristic of Eph-ephrin sig>gg>naling>gg> is that both g>receptorg>s and lig>gg>ands are competent to transduce a sig>gg>naling>gg> cascade, resulting>gg> in bidirectional sig>gg>naling>gg>. This protein belong>gg>s to a subg>gg>roup of the Eph g>receptorg>s called EphB. Proteins of this subg>gg>roup are disting>gg>uished from other members of the family by sequence homolog>gg>y and preferential binding>gg> affinity for membrane-bound ephrin-B lig>gg>ands. Allelic variants are associated with prostate and brain cancer susceptibility. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, May 2015]

EPHB3 Gene

EPH g>receptorg> B3

Ephrin g>receptorg>s and their lig>gg>ands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a g>gg>lycosylphosphatidylinositol linkag>gg>e, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of g>receptorg>s are divided into two g>gg>roups based on the similarity of their extracellular domain sequences and their affinities for binding>gg> ephrin-A and ephrin-B lig>gg>ands. Ephrin g>receptorg>s make up the larg>gg>est subg>gg>roup of the g>receptorg> tyrosine kinase (RTK) family. This g>gg>ene encodes a g>receptorg> for ephrin-B family members. [provided by RefSeq, Mar 2010]

EPHB1 Gene

EPH g>receptorg> B1

Ephrin g>receptorg>s and their lig>gg>ands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a g>gg>lycosylphosphatidylinositol linkag>gg>e, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of g>receptorg>s are divided into 2 g>gg>roups based on the similarity of their extracellular domain sequences and their affinities for binding>gg> ephrin-A and ephrin-B lig>gg>ands. Ephrin g>receptorg>s make up the larg>gg>est subg>gg>roup of the g>receptorg> tyrosine kinase (RTK) family. The protein encoded by this g>gg>ene is a g>receptorg> for ephrin-B family members. [provided by RefSeq, Jul 2008]

EPHB6 Gene

EPH g>receptorg> B6

This g>gg>ene encodes a member of a family of transmembrane proteins that function as g>receptorg>s for ephrin-B family proteins. Unlike other members of this family, the encoded protein does not contain a functional kinase domain. Activity of this protein can influence cell adhesion and mig>gg>ration. Expression of this g>gg>ene is downreg>gg>ulated during>gg> tumor prog>gg>ression, sug>gg>g>gg>esting>gg> that the protein may suppress tumor invasion and metastasis. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2013]

EPHB4 Gene

EPH g>receptorg> B4

Ephrin g>receptorg>s and their lig>gg>ands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a g>gg>lycosylphosphatidylinositol linkag>gg>e, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of g>receptorg>s are divided into 2 g>gg>roups based on the similarity of their extracellular domain sequences and their affinities for binding>gg> ephrin-A and ephrin-B lig>gg>ands. Ephrin g>receptorg>s make up the larg>gg>est subg>gg>roup of the g>receptorg> tyrosine kinase (RTK) family. The protein encoded by this g>gg>ene binds to ephrin-B2 and plays an essential role in vascular development. [provided by RefSeq, Jul 2008]

RYR2 Gene

ryanodine g>receptorg> 2 (cardiac)

This g>gg>ene encodes a ryanodine g>receptorg> found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine g>receptorg> proteins and a tetramer of FK506 binding>gg> protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this g>gg>ene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmog>gg>enic rig>gg>ht ventricular dysplasia. [provided by RefSeq, Jul 2008]

OR13Z1P Gene

olfactory g>receptorg>, family 13, subfamily Z, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

MC2R Gene

melanocortin 2 g>receptorg> (adrenocorticotropic hormone)

MC2R encodes one member of the five-member g>Gg>-protein associated melanocortin g>receptorg> family. Melanocortins (melanocyte-stimulating>gg> hormones and adrenocorticotropic hormone) are peptides derived from pro-opiomelanocortin (POMC). MC2R is selectively activated by adrenocorticotropic hormone, whereas the other four melanocortin g>receptorg>s recog>gg>nize a variety of melanocortin lig>gg>ands. Mutations in MC2R can result in familial g>gg>lucocorticoid deficiency. Alternate transcript variants have been found for this g>gg>ene. [provided by RefSeq, May 2014]

OR1AB1P Gene

olfactory g>receptorg>, family 1, subfamily AB, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR56A5 Gene

olfactory g>receptorg>, family 56, subfamily A, member 5

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Mar 2009]

OSMR Gene

oncostatin M g>receptorg>

This g>gg>ene encodes a member of the type I cytokine g>receptorg> family. The encoded protein heterodimerizes with interleukin 6 sig>gg>nal transducer to form the type II oncostatin M g>receptorg> and with interleukin 31 g>receptorg> A to form the interleukin 31 g>receptorg>, and thus transduces oncostatin M and interleukin 31 induced sig>gg>naling>gg> events. Mutations in this g>gg>ene have been associated with familial primary localized cutaneous amyloidosis. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Dec 2009]

IL18R1 Gene

interleukin 18 g>receptorg> 1

The protein encoded by this g>gg>ene is a cytokine g>receptorg> that belong>gg>s to the interleukin 1 g>receptorg> family. This g>receptorg> specifically binds interleukin 18 (IL18), and is essential for IL18 mediated sig>gg>nal transduction. IFN-alpha and IL12 are reported to induce the expression of this g>receptorg> in NK and T cells. This g>gg>ene along>gg> with four other members of the interleukin 1 g>receptorg> family, including>gg> IL1R2, IL1R1, ILRL2 (IL-1Rrp2), and IL1RL1 (T1/ST2), form a g>gg>ene cluster on chromosome 2q. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Sep 2013]

CHRNA10 Gene

cholinerg>gg>ic g>receptorg>, nicotinic, alpha 10 (neuronal)

Predicted to enable acetylcholine-g>gg>ated monoatomic cation-selective channel activity. Acts upstream of or within positive reg>gg>ulation of cytosolic calcium ion concentration. Predicted to be located in membrane. Predicted to be part of transmembrane transporter complex. Predicted to be active in cholinerg>gg>ic synapse; neuron projection; and postsynaptic specialization membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR4A48P Gene

olfactory g>receptorg>, family 4, subfamily A, member 48 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100131200 Gene

mannose-6-phosphate g>receptorg> (cation dependent) pseudog>gg>ene

RXRg>Gg> Gene

retinoid X g>receptorg>, g>gg>amma

This g>gg>ene encodes a member of the retinoid X g>receptorg> (RXR) family of nuclear g>receptorg>s which are involved in mediating>gg> the antiproliferative effects of retinoic acid (RA). This g>receptorg> forms dimers with the retinoic acid, thyroid hormone, and vitamin D g>receptorg>s, increasing>gg> both DNA binding>gg> and transcriptional function on their respective response elements. This g>gg>ene is expressed at sig>gg>nificantly lower levels in non-small cell lung>gg> cancer cells. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2010]

RXRA Gene

retinoid X g>receptorg>, alpha

Retinoid X g>receptorg>s (RXRs) and retinoic acid g>receptorg>s (RARs) are nuclear g>receptorg>s that mediate the biolog>gg>ical effects of retinoids by their involvement in retinoic acid-mediated g>gg>ene activation. These g>receptorg>s function as transcription factors by binding>gg> as homodimers or heterodimers to specific sequences in the promoters of targ>gg>et g>gg>enes. The protein encoded by this g>gg>ene is a member of the steroid and thyroid hormone g>receptorg> superfamily of transcriptional reg>gg>ulators. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants. [provided by RefSeq, May 2014]

RXRB Gene

retinoid X g>receptorg>, beta

This g>gg>ene encodes a member of the retinoid X g>receptorg> (RXR) family of nuclear g>receptorg>s which are involved in mediating>gg> the effects of retinoic acid (RA). The encoded protein forms homodimers with the retinoic acid, thyroid hormone, and vitamin D g>receptorg>s, increasing>gg> both DNA binding>gg> and transcriptional function on their respective response elements. This g>gg>ene lies within the major histocompatibility complex (MHC) class II reg>gg>ion on chromosome 6. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Jul 2012]

OR51A6P Gene

olfactory g>receptorg>, family 51, subfamily A, member 6 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

NMUR2 Gene

neuromedin U g>receptorg> 2

This g>gg>ene encodes a protein from the g>Gg>-protein coupled g>receptorg> 1 family. This protein is a g>receptorg> for neuromedin U, which is a neuropeptide that is widely distributed in the g>gg>ut and central nervous system. This g>receptorg> plays an important role in the reg>gg>ulation of food intake and body weig>gg>ht. [provided by RefSeq, Jul 2008]

NMUR1 Gene

neuromedin U g>receptorg> 1

Enables neuromedin U binding>gg> activity and neuromedin U g>receptorg> activity. Involved in several processes, including>gg> calcium-mediated sig>gg>naling>gg>; chloride transport; and positive reg>gg>ulation of calcium-mediated sig>gg>naling>gg>. Located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR7E104P Gene

olfactory g>receptorg>, family 7, subfamily E, member 104 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC285706 Gene

cytokine g>receptorg>-like factor 3 pseudog>gg>ene

VLDLR Gene

very low density lipoprotein g>receptorg>

The low density lipoprotein g>receptorg> (LDLR) g>gg>ene family consists of cell surface proteins involved in g>receptorg>-mediated endocytosis of specific lig>gg>ands. This g>gg>ene encodes a lipoprotein g>receptorg> that is a member of the LDLR family and plays important roles in VLDL-trig>gg>lyceride metabolism and the reelin sig>gg>naling>gg> pathway. Mutations in this g>gg>ene cause VLDLR-associated cerebellar hypoplasia. Alternative splicing>gg> g>gg>enerates multiple transcript variants encoding>gg> distinct isoforms for this g>gg>ene. [provided by RefSeq, Aug>gg> 2009]

NCR2 Gene

natural cytotoxicity trig>gg>g>gg>ering>gg> g>receptorg> 2

Predicted to enable sig>gg>naling>gg> g>receptorg> activity. Predicted to be involved in cellular defense response and sig>gg>nal transduction. Predicted to be located in plasma membrane. Predicted to be active in cell surface. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

VN2R19P Gene

vomeronasal 2 g>receptorg> 19 pseudog>gg>ene

LOC105378220 Gene

macrophag>gg>e g>receptorg> MARCO-like

Predicted to be an extracellular matrix structural constituent conferring>gg> tensile streng>gg>th. Predicted to be involved in extracellular matrix org>gg>anization. Predicted to be active in collag>gg>en-containing>gg> extracellular matrix and extracellular space. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR4g>Gg>3P Gene

olfactory g>receptorg>, family 4, subfamily g>Gg>, member 3 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

HTR1DP1 Gene

5-hydroxytryptamine (serotonin) g>receptorg> 1D pseudog>gg>ene 1

OR5D15P Gene

olfactory g>receptorg>, family 5, subfamily D, member 15 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5M10 Gene

olfactory g>receptorg>, family 5, subfamily M, member 10

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5M11 Gene

olfactory g>receptorg>, family 5, subfamily M, member 11

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100420580 Gene

taste g>receptorg>, type 2, member 7 pseudog>gg>ene

LOC100420583 Gene

taste g>receptorg>, type 2, member 7 pseudog>gg>ene

CHRNB1 Gene

cholinerg>gg>ic g>receptorg>, nicotinic, beta 1 (muscle)

The muscle acetylcholine g>receptorg> is composed of five subunits: two alpha subunits and one beta, one g>gg>amma, and one delta subunit. This g>gg>ene encodes the beta subunit of the acetylcholine g>receptorg>. The acetylcholine g>receptorg> chang>gg>es conformation upon acetylcholine binding>gg> leading>gg> to the opening>gg> of an ion-conducting>gg> channel across the plasma membrane. Mutations in this g>gg>ene are associated with slow-channel cong>gg>enital myasthenic syndrome. [provided by RefSeq, Jul 2008]

CHRNB3 Gene

cholinerg>gg>ic g>receptorg>, nicotinic, beta 3 (neuronal)

The nicotinic acetylcholine g>receptorg>s (nAChRs) are members of a superfamily of lig>gg>and-g>gg>ated ion channels that mediate fast sig>gg>nal transmission at synapses. The nAChRs are (hetero)pentamers composed of homolog>gg>ous subunits. The subunits that make up the muscle and neuronal forms of nAChRs are encoded by separate g>gg>enes and have different primary structure. There are several subtypes of neuronal nAChRs that vary based on which homolog>gg>ous subunits are arrang>gg>ed around the central channel. They are classified as alpha-subunits if, like muscle alpha-1 (MIM 100690), they have a pair of adjacent cysteines as part of the presumed acetylcholine binding>gg> site. Subunits lacking>gg> these cysteine residues are classified as beta-subunits (g>Gg>root Kormelink and Luyten, 1997 [PubMed 9009220]). Elliott et al. (1996) [PubMed 8906617] stated that the proposed structure for each subunit is a conserved N-terminal extracellular domain followed by 3 conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular reg>gg>ion.[supplied by OMIM, Apr 2010]

CHRNB2 Gene

cholinerg>gg>ic g>receptorg>, nicotinic, beta 2 (neuronal)

Neuronal acetylcholine g>receptorg>s are homo- or heteropentameric complexes composed of homolog>gg>ous alpha and beta subunits. They belong>gg> to a superfamily of lig>gg>and-g>gg>ated ion channels which allow the flow of sodium and potassium across the plasma membrane in response to lig>gg>ands such as acetylcholine and nicotine. This g>gg>ene encodes one of several beta subunits. Mutations in this g>gg>ene are associated with autosomal dominant nocturnal frontal lobe epilepsy. [provided by RefSeq, Jul 2008]

CHRNB4 Gene

cholinerg>gg>ic g>receptorg>, nicotinic, beta 4 (neuronal)

This g>gg>ene is found within a conserved g>gg>ene cluster and encodes one of the beta subunits of the nicotinic acetylcholine g>receptorg> (nAChRs) superfamily which form lig>gg>and-g>gg>ated ion channels with a central pore that forms a cation channel. Neuronal nAChRs are pentameric structures that can be either homomeric or heteromeric, with heteromeric structures containing>gg> both alpha and beta subunits. Each subunit contains an extracellular amino terminus and four transmembrane domains. Nicotine is one of the ag>gg>onists that binds to the g>receptorg>. Variants in this g>gg>ene have been associated with nicotine dependence and lung>gg> cancer. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Sep 2017]

ANTXRLP1 Gene

anthrax toxin g>receptorg>-like pseudog>gg>ene 1

TAS2R12P Gene

taste g>receptorg>, type 2, member 12, pseudog>gg>ene

OR4P4 Gene

olfactory g>receptorg>, family 4, subfamily P, member 4

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4D8P Gene

olfactory g>receptorg>, family 4, subfamily D, member 8 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

g>Gg>RPR Gene

g>gg>astrin-releasing>gg> peptide g>receptorg>

g>Gg>astrin-releasing>gg> peptide (g>Gg>RP) reg>gg>ulates numerous functions of the g>gg>astrointestinal and central nervous systems, including>gg> release of g>gg>astrointestinal hormones, smooth muscle cell contraction, and epithelial cell proliferation and is a potent mitog>gg>en for neoplastic tissues. The effects of g>Gg>RP are mediated throug>gg>h the g>gg>astrin-releasing>gg> peptide g>receptorg>. This g>receptorg> is a g>gg>lycosylated, 7-transmembrane g>Gg>-protein coupled g>receptorg> that activates the phospholipase C sig>gg>naling>gg> pathway. The g>receptorg> is aberrantly expressed in numerous cancers such as those of the lung>gg>, colon, and prostate. An individual with autism and multiple exostoses was found to have a balanced translocation between chromosome 8 and a chromosome X breakpoint located within the g>gg>astrin-releasing>gg> peptide g>receptorg> g>gg>ene. [provided by RefSeq, Jul 2008]

OR2B11 Gene

olfactory g>receptorg>, family 2, subfamily B, member 11

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5AN1 Gene

olfactory g>receptorg>, family 5, subfamily AN, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R90P Gene

vomeronasal 1 g>receptorg> 90 pseudog>gg>ene

OR2H4P Gene

olfactory g>receptorg>, family 2, subfamily H, member 4 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

NPY6R Gene

neuropeptide Y g>receptorg> Y6 (pseudog>gg>ene)

Predicted to enable neuropeptide binding>gg> activity and peptide YY g>receptorg> activity. Predicted to be involved in neuropeptide sig>gg>naling>gg> pathway. Predicted to be located in membrane. Predicted to be active in neuron projection and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KISS1R Gene

KISS1 g>receptorg>

The protein encoded by this g>gg>ene is a g>gg>alanin-like g>Gg> g>protein-coupledg> g>receptorg> that binds metastin, a peptide encoded by the metastasis suppressor g>gg>ene KISS1. The tissue distribution of the expressed g>gg>ene sug>gg>g>gg>ests that it is involved in the reg>gg>ulation of endocrine function, and this is supported by the finding>gg> that this g>gg>ene appears to play a role in the onset of puberty. Mutations in this g>gg>ene have been associated with hypog>gg>onadotropic hypog>gg>onadism and central precocious puberty. [provided by RefSeq, Jul 2008]

OR4D9 Gene

olfactory g>receptorg>, family 4, subfamily D, member 9

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

ASg>Gg>R1 Gene

asialog>gg>lycoprotein g>receptorg> 1

This g>gg>ene encodes a subunit of the asialog>gg>lycoprotein g>receptorg>. This g>receptorg> is a transmembrane protein that plays a critical role in serum g>gg>lycoprotein homeostasis by mediating>gg> the endocytosis and lysosomal deg>gg>radation of g>gg>lycoproteins with exposed terminal g>gg>alactose or N-acetylg>gg>alactosamine residues. The asialog>gg>lycoprotein g>receptorg> may facilitate hepatic infection by multiple viruses including>gg> hepatitis B, and is also a targ>gg>et for liver-specific drug>gg> delivery. The asialog>gg>lycoprotein g>receptorg> is a hetero-olig>gg>omeric protein composed of major and minor subunits, which are encoded by different g>gg>enes. The protein encoded by this g>gg>ene is the more abundant major subunit. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Jan 2011]

ASg>Gg>R2 Gene

asialog>gg>lycoprotein g>receptorg> 2

This g>gg>ene encodes a subunit of the asialog>gg>lycoprotein g>receptorg>. This g>receptorg> is a transmembrane protein that plays a critical role in serum g>gg>lycoprotein homeostasis by mediating>gg> the endocytosis and lysosomal deg>gg>radation of g>gg>lycoproteins with exposed terminal g>gg>alactose or N-acetylg>gg>alactosamine residues. The asialog>gg>lycoprotein g>receptorg> may facilitate hepatic infection by multiple viruses including>gg> hepatitis B, and is also a targ>gg>et for liver-specific drug>gg> delivery. The asialog>gg>lycoprotein g>receptorg> is a hetero-olig>gg>omeric protein composed of major and minor subunits, which are encoded by different g>gg>enes. The protein encoded by this g>gg>ene is the less abundant minor subunit. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Jan 2011]

OR9A3P Gene

olfactory g>receptorg>, family 9, subfamily A, member 3 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC105375057 Gene

trig>gg>g>gg>ering>gg> g>receptorg> expressed on myeloid cells 1-like

TRAV31 Gene

T cell g>receptorg> alpha variable 31 (pseudog>gg>ene)

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ30 Gene

T cell g>receptorg> alpha joining>gg> 30

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ31 Gene

T cell g>receptorg> alpha joining>gg> 31

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ33 Gene

T cell g>receptorg> alpha joining>gg> 33

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ34 Gene

T cell g>receptorg> alpha joining>gg> 34

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ35 Gene

T cell g>receptorg> alpha joining>gg> 35 (non-functional)

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ36 Gene

T cell g>receptorg> alpha joining>gg> 36

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ37 Gene

T cell g>receptorg> alpha joining>gg> 37

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ38 Gene

T cell g>receptorg> alpha joining>gg> 38

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ39 Gene

T cell g>receptorg> alpha joining>gg> 39

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

NRBF2P1 Gene

nuclear g>receptorg> binding>gg> factor 2 pseudog>gg>ene 1

NRBF2P3 Gene

nuclear g>receptorg> binding>gg> factor 2 pseudog>gg>ene 3

NRBF2P2 Gene

nuclear g>receptorg> binding>gg> factor 2 pseudog>gg>ene 2

LOC100421886 Gene

olfactory g>receptorg>, family 2, subfamily W, member 1 pseudog>gg>ene

KIR3DS1 Gene

killer cell immunog>gg>lobulin-like g>receptorg>, three domains, short cytoplasmic tail, 1

Killer cell immunog>gg>lobulin-like g>receptorg>s (KIRs) are transmembrane g>gg>lycoproteins expressed by natural killer cells and subsets of T cells. The KIR g>gg>enes are polymorphic and hig>gg>hly homolog>gg>ous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte g>receptorg> complex (LRC). The g>gg>ene content of the KIR g>gg>ene cluster varies among>gg> haplotypes, althoug>gg>h several `framework` g>gg>enes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunog>gg>lobulin domains (2D or 3D) and by whether they have a long>gg> (L) or short (S) cytoplasmic domain. KIR proteins with the long>gg> cytoplasmic domain transduce inhibitory sig>gg>nals upon lig>gg>and binding>gg> via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding>gg> protein to transduce activating>gg> sig>gg>nals. The lig>gg>ands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thoug>gg>ht to play an important role in reg>gg>ulation of the immune response. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Aug>gg> 2013]

OR10D3 Gene

olfactory g>receptorg>, family 10, subfamily D, member 3 (non-functional)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

g>Gg>ALR3 Gene

g>gg>alanin g>receptorg> 3

The neuropeptide g>gg>alanin modulates a variety of physiolog>gg>ic processes including>gg> cog>gg>nition/memory, sensory/pain processing>gg>, hormone secretion, and feeding>gg> behavior. The human g>gg>alanin g>receptorg>s are g>Gg> g>protein-coupledg> g>receptorg>s that functionally couple to their intracellular effector throug>gg>h distinct sig>gg>naling>gg> pathways. g>Gg>ALR3 is found in many tissues and may be expressed as 1.4-, 2.4-, and 5-kb transcripts [provided by RefSeq, Jul 2008]

g>Gg>ALR2 Gene

g>gg>alanin g>receptorg> 2

g>Gg>alanin is an important neuromodulator present in the brain, g>gg>astrointestinal system, and hypothalamopituitary axis. It is a 30-amino acid non-C-terminally amidated peptide that potently stimulates g>gg>rowth hormone secretion, inhibits cardiac vag>gg>al slowing>gg> of heart rate, abolishes sinus arrhythmia, and inhibits postprandial g>gg>astrointestinal motility. The actions of g>gg>alanin are mediated throug>gg>h interaction with specific membrane g>receptorg>s that are members of the 7-transmembrane family of g>Gg> g>protein-coupledg> g>receptorg>s. g>Gg>ALR2 interacts with the N-terminal residues of the g>gg>alanin peptide. The primary sig>gg>naling>gg> mechanism for g>Gg>ALR2 is throug>gg>h the phospholipase C/protein kinase C pathway (via g>Gg>q), in contrast to g>Gg>ALR1, which communicates its intracellular sig>gg>nal by inhibition of adenylyl cyclase throug>gg>h g>Gg>i. However, it has been demonstrated that g>Gg>ALR2 couples efficiently to both the g>Gg>q and g>Gg>i proteins to simultaneously activate 2 independent sig>gg>nal transduction pathways. [provided by RefSeq, Jul 2008]

g>Gg>ALR1 Gene

g>gg>alanin g>receptorg> 1

The neuropeptide g>gg>alanin elicits a rang>gg>e of biolog>gg>ical effects by interaction with specific g>Gg>-g>protein-coupledg> g>receptorg>s. g>Gg>alanin g>receptorg>s are seven-transmembrane proteins shown to activate a variety of intracellular second-messeng>gg>er pathways. g>Gg>ALR1 inhibits adenylyl cyclase via a g>Gg> protein of the g>Gg>i/g>Gg>o family. g>Gg>ALR1 is widely expressed in the brain and spinal cord, as well as in peripheral sites such as the small intestine and heart. [provided by RefSeq, Jul 2008]

OR4C10P Gene

olfactory g>receptorg>, family 4, subfamily C, member 10 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

MRC1 Gene

mannose g>receptorg>, C type 1

The recog>gg>nition of complex carbohydrate structures on g>gg>lycoproteins is an important part of several biolog>gg>ical processes, including>gg> cell-cell recog>gg>nition, serum g>gg>lycoprotein turnover, and neutralization of pathog>gg>ens. The protein encoded by this g>gg>ene is a type I membrane g>receptorg> that mediates the endocytosis of g>gg>lycoproteins by macrophag>gg>es. The protein has been shown to bind hig>gg>h-mannose structures on the surface of potentially pathog>gg>enic viruses, bacteria, and fung>gg>i so that they can be neutralized by phag>gg>ocytic eng>gg>ulfment.[provided by RefSeq, Sep 2015]

OR4B2P Gene

olfactory g>receptorg>, family 4, subfamily B, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4g>Gg>4P Gene

olfactory g>receptorg>, family 4, subfamily g>Gg>, member 4 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

MPL Gene

MPL proto-oncog>gg>ene, thrombopoietin g>receptorg>

In 1990 an oncog>gg>ene, v-mpl, was identified from the murine myeloproliferative leukemia virus that was capable of immortalizing>gg> bone marrow hematopoietic cells from different lineag>gg>es. In 1992 the human homolog>gg>ue, named, c-mpl, was cloned. Sequence data revealed that c-mpl encoded a protein that was homolog>gg>ous with members of the hematopoietic g>receptorg> superfamily. Presence of anti-sense olig>gg>odeoxynucleotides of c-mpl inhibited meg>gg>akaryocyte colony formation. The lig>gg>and for c-mpl, thrombopoietin, was cloned in 1994. Thrombopoietin was shown to be the major reg>gg>ulator of meg>gg>akaryocytopoiesis and platelet formation. The protein encoded by the c-mpl g>gg>ene, CD110, is a 635 amino acid transmembrane domain, with two extracellular cytokine g>receptorg> domains and two intracellular cytokine g>receptorg> box motifs . TPO-R deficient mice were severely thrombocytopenic, emphasizing>gg> the important role of CD110 and thrombopoietin in meg>gg>akaryocyte and platelet formation. Upon binding>gg> of thrombopoietin CD110 is dimerized and the JAK family of non-g>receptorg> tyrosine kinases, as well as the STAT family, the MAPK family, the adaptor protein Shc and the g>receptorg>s themselves become tyrosine phosphorylated. [provided by RefSeq, Jul 2008]

VN1R112P Gene

vomeronasal 1 g>receptorg> 112 pseudog>gg>ene

g>Gg>RIN2B Gene

g>gg>lutamate g>receptorg>, ionotropic, N-methyl D-aspartate 2B

This g>gg>ene encodes a member of the N-methyl-D-aspartate (NMDA) g>receptorg> family within the ionotropic g>gg>lutamate g>receptorg> superfamily. The encoded protein is a subunit of the NMDA g>receptorg> ion channel which acts as an ag>gg>onist binding>gg> site for g>gg>lutamate. The NMDA g>receptorg>s mediate a slow calcium-permeable component of excitatory synaptic transmission in the central nervous system. The NMDA g>receptorg>s are heterotetramers of seven g>gg>enetically encoded, differentially expressed subunits including>gg> NR1 (g>Gg>RIN1), NR2 (g>Gg>RIN2A, g>Gg>RIN2B, g>Gg>RIN2C, or g>Gg>RIN2D) and NR3 (g>Gg>RIN3A or g>Gg>RIN3B). The early expression of this g>gg>ene in development sug>gg>g>gg>ests a role in brain development, circuit formation, synaptic plasticity, and cellular mig>gg>ration and differentiation. Naturally occurring>gg> mutations within this g>gg>ene are associated with neurodevelopmental disorders including>gg> autism spectrum disorder, attention deficit hyperactivity disorder, epilepsy, and schizophrenia. [provided by RefSeq, Aug>gg> 2017]

g>Gg>RIN2C Gene

g>gg>lutamate g>receptorg>, ionotropic, N-methyl D-aspartate 2C

This g>gg>ene encodes a subunit of the N-methyl-D-aspartate (NMDA) g>receptorg>, which is a subtype of ionotropic g>gg>lutamate g>receptorg>. NMDA g>receptorg>s are found in the central nervous system, are permeable to cations and have an important role in physiolog>gg>ical processes such as learning>gg>, memory, and synaptic development. The g>receptorg> is a tetramer of different subunits (typically heterodimer of subunit 1 with one or more of subunits 2A-D), forming>gg> a channel that is permeable to calcium, potassium, and sodium, and whose properties are determined by subunit composition. Alterations in the subunit composition of the g>receptorg> are associated with pathophysiolog>gg>ical conditions such as Parkinson's disease, Alzheimer's disease, depression, and schizophrenia. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jun 2013]

g>Gg>RIN2A Gene

g>gg>lutamate g>receptorg>, ionotropic, N-methyl D-aspartate 2A

This g>gg>ene encodes a member of the g>gg>lutamate-g>gg>ated ion channel protein family. The encoded protein is an N-methyl-D-aspartate (NMDA) g>receptorg> subunit. NMDA g>receptorg>s are both lig>gg>and-g>gg>ated and voltag>gg>e-dependent, and are involved in long>gg>-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thoug>gg>ht to underlie certain kinds of memory and learning>gg>. These g>receptorg>s are permeable to calcium ions, and activation results in a calcium influx into post-synaptic cells, which results in the activation of several sig>gg>naling>gg> cascades. Disruption of this g>gg>ene is associated with focal epilepsy and speech disorder with or without cog>gg>nitive disability. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, May 2014]

g>Gg>RIN2D Gene

g>gg>lutamate g>receptorg>, ionotropic, N-methyl D-aspartate 2D

N-methyl-D-aspartate (NMDA) g>receptorg>s are a class of ionotropic g>gg>lutamate g>receptorg>s. NMDA channel has been shown to be involved in long>gg>-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thoug>gg>ht to underlie certain kinds of memory and learning>gg>. NMDA g>receptorg> channels are heteromers composed of the key g>receptorg> subunit NMDAR1 (g>Gg>RIN1) and 1 or more of the 4 NMDAR2 subunits: NMDAR2A (g>Gg>RIN2A), NMDAR2B (g>Gg>RIN2B), NMDAR2C (g>Gg>RIN2C), and NMDAR2D (g>Gg>RIN2D). [provided by RefSeq, Mar 2010]

TAS2R19 Gene

taste g>receptorg>, type 2, member 19

Predicted to enable g>Gg> g>protein-coupledg> g>receptorg> activity and bitter taste g>receptorg> activity. Predicted to be involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway and detection of chemical stimulus involved in sensory perception of bitter taste. Located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TAS2R14 Gene

taste g>receptorg>, type 2, member 14

This g>gg>ene product belong>gg>s to the family of candidate taste g>receptorg>s that are members of the g>Gg>-g>protein-coupledg> g>receptorg> superfamily. These proteins are specifically expressed in the taste g>receptorg> cells of the tong>gg>ue and palate epithelia. They are org>gg>anized in the g>gg>enome in clusters and are g>gg>enetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This g>gg>ene maps to the taste g>receptorg> g>gg>ene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]

TAS2R16 Gene

taste g>receptorg>, type 2, member 16

This g>gg>ene encodes a member of a family of candidate taste g>receptorg>s that are members of the g>Gg> g>protein-coupledg> g>receptorg> superfamily. These family members are specifically expressed by taste g>receptorg> cells of the tong>gg>ue and palate epithelia. Each of these apparently intronless g>gg>enes encodes a 7-transmembrane g>receptorg> protein, functioning>gg> as a bitter taste g>receptorg>. This g>gg>ene is clustered with another 3 candidate taste g>receptorg> g>gg>enes in chromosome 7 and is g>gg>enetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008]

TAS2R10 Gene

taste g>receptorg>, type 2, member 10

This g>gg>ene product belong>gg>s to the family of candidate taste g>receptorg>s that are members of the g>Gg>-g>protein-coupledg> g>receptorg> superfamily. These proteins are specifically expressed in the taste g>receptorg> cells of the tong>gg>ue and palate epithelia. They are org>gg>anized in the g>gg>enome in clusters and are g>gg>enetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This g>gg>ene maps to the taste g>receptorg> g>gg>ene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]

TAS2R13 Gene

taste g>receptorg>, type 2, member 13

This g>gg>ene product belong>gg>s to the family of candidate taste g>receptorg>s that are members of the g>Gg>-g>protein-coupledg> g>receptorg> superfamily. These proteins are specifically expressed in the taste g>receptorg> cells of the tong>gg>ue and palate epithelia. They are org>gg>anized in the g>gg>enome in clusters and are g>gg>enetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This g>gg>ene maps to the taste g>receptorg> g>gg>ene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]

LOC402279 Gene

g>gg>lutamate g>receptorg>, metabotropic 8 pseudog>gg>ene

NCOR1P1 Gene

nuclear g>receptorg> corepressor 1 pseudog>gg>ene 1

NCOR1P3 Gene

nuclear g>receptorg> corepressor 1 pseudog>gg>ene 3

OR8S1 Gene

olfactory g>receptorg>, family 8, subfamily S, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

IL2RA Gene

interleukin 2 g>receptorg>, alpha

The interleukin 2 (IL2) g>receptorg> alpha (IL2RA) and beta (IL2RB) chains, tog>gg>ether with the common g>gg>amma chain (IL2Rg>Gg>), constitute the hig>gg>h-affinity IL2 g>receptorg>. Homodimeric alpha chains (IL2RA) result in low-affinity g>receptorg>, while homodimeric beta (IL2RB) chains produce a medium-affinity g>receptorg>. Normally an integ>gg>ral-membrane protein, soluble IL2RA has been isolated and determined to result from extracellular proteolyisis. Alternately-spliced IL2RA mRNAs have been isolated, but the sig>gg>nificance of each is presently unknown. Mutations in this g>gg>ene are associated with interleukin 2 g>receptorg> alpha deficiency. Patients with severe Coronavirus Disease 2019 (COVID-19), the disease caused by the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), have sig>gg>nificantly elevated levels of IL2R in their plasma. Similarly, serum IL-2R levels are found to be elevated in patients with different types of carcinomas. Certain IL2RA and IL2RB g>gg>ene polymorphisms have been associated with lung>gg> cancer risk. [provided by RefSeq, Jul 2020]

IL2RB Gene

interleukin 2 g>receptorg>, beta

The interleukin 2 g>receptorg>, which is involved in T cell-mediated immune responses, is present in 3 forms with respect to ability to bind interleukin 2. The low affinity form is a monomer of the alpha subunit and is not involved in sig>gg>nal transduction. The intermediate affinity form consists of an alpha/beta subunit heterodimer, while the hig>gg>h affinity form consists of an alpha/beta/g>gg>amma subunit heterotrimer. Both the intermediate and hig>gg>h affinity forms of the g>receptorg> are involved in g>receptorg>-mediated endocytosis and transduction of mitog>gg>enic sig>gg>nals from interleukin 2. The protein encoded by this g>gg>ene represents the beta subunit and is a type I membrane protein. The use of alternative promoters results in multiple transcript variants encoding>gg> the same protein. The protein is primarily expressed in the hematopoietic system. The use by some variants of an alternate promoter in an upstream long>gg> terminal repeat (LTR) results in placenta-specific expression. [provided by RefSeq, Sep 2016]

IL2Rg>Gg> Gene

interleukin 2 g>receptorg>, g>gg>amma

The protein encoded by this g>gg>ene is an important sig>gg>naling>gg> component of many interleukin g>receptorg>s, including>gg> those of interleukin -2, -4, -7 and -21, and is thus referred to as the common g>gg>amma chain. Mutations in this g>gg>ene cause X-linked severe combined immunodeficiency (XSCID), as well as X-linked combined immunodeficiency (XCID), a less severe immunodeficiency disorder. [provided by RefSeq, Mar 2010]

TRBV20OR9-2 Gene

T cell g>receptorg> beta variable 20/OR9-2 (non-functional)

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR4A40P Gene

olfactory g>receptorg>, family 4, subfamily A, member 40 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

IL6R Gene

interleukin 6 g>receptorg>

This g>gg>ene encodes a subunit of the interleukin 6 (IL6) g>receptorg> complex. Interleukin 6 is a potent pleiotropic cytokine that reg>gg>ulates cell g>gg>rowth and differentiation and plays an important role in the immune response. The IL6 g>receptorg> is a protein complex consisting>gg> of this protein and interleukin 6 sig>gg>nal transducer (IL6ST/g>Gg>P130/IL6-beta), a g>receptorg> subunit also shared by many other cytokines. Dysreg>gg>ulated production of IL6 and this g>receptorg> are implicated in the pathog>gg>enesis of many diseases, such as multiple myeloma, autoimmune diseases and prostate cancer. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been identified in this g>gg>ene. A pseudog>gg>ene of this g>gg>ene is found on chromosome 9. [provided by RefSeq, Aug>gg> 2020]

OR2N1P Gene

olfactory g>receptorg>, family 2, subfamily N, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100421902 Gene

olfactory g>receptorg>, family 9, subfamily A, member 2 pseudog>gg>ene

LOC100421907 Gene

olfactory g>receptorg>, family 2, subfamily A, member 5 pseudog>gg>ene

LOC100421904 Gene

olfactory g>receptorg>, family 2, subfamily F, member 1 pseudog>gg>ene

LOC100421909 Gene

olfactory g>receptorg>, family 8, subfamily B, member 4 pseudog>gg>ene

TRAV2 Gene

T cell g>receptorg> alpha variable 2

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAV3 Gene

T cell g>receptorg> alpha variable 3 (g>gg>ene/pseudog>gg>ene)

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAV4 Gene

T cell g>receptorg> alpha variable 4

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAV6 Gene

T cell g>receptorg> alpha variable 6

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAV7 Gene

T cell g>receptorg> alpha variable 7

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

OR2g>Gg>3 Gene

olfactory g>receptorg>, family 2, subfamily g>Gg>, member 3

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2g>Gg>2 Gene

olfactory g>receptorg>, family 2, subfamily g>Gg>, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2g>Gg>6 Gene

olfactory g>receptorg>, family 2, subfamily g>Gg>, member 6

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN2R14P Gene

vomeronasal 2 g>receptorg> 14 pseudog>gg>ene

VN1R62P Gene

vomeronasal 1 g>receptorg> 62 pseudog>gg>ene

TREML2 Gene

trig>gg>g>gg>ering>gg> g>receptorg> expressed on myeloid cells-like 2

TREML2 is located in a g>gg>ene cluster on chromosome 6 with the sing>gg>le Ig>gg> variable (Ig>gg>V) domain activating>gg> g>receptorg>s TREM1 (MIM 605085) and TREM2 (MIM 605086), but it has distinct structural and functional properties (Allcock et al., 2003 [PubMed 12645956]).[supplied by OMIM, Mar 2008]

TREML1 Gene

trig>gg>g>gg>ering>gg> g>receptorg> expressed on myeloid cells-like 1

This g>gg>ene encodes a member of the trig>gg>g>gg>ering>gg> g>receptorg> expressed on myeloid cells-like (TREM) family. The encoded protein is a type 1 sing>gg>le Ig>gg> domain orphan g>receptorg> localized to the alpha-g>gg>ranule membranes of platelets. The encoded protein is involved in platelet ag>gg>g>gg>reg>gg>ation, inflammation, and cellular activation and has been linked to g>Gg>ray platelet syndrome. Alternative splicing>gg> results in multiple transcript variants [provided by RefSeq, Nov 2012]

TREML4 Gene

trig>gg>g>gg>ering>gg> g>receptorg> expressed on myeloid cells-like 4

Predicted to enable sig>gg>naling>gg> g>receptorg> activity. Involved in positive reg>gg>ulation of toll-like g>receptorg> 7 sig>gg>naling>gg> pathway. Predicted to be located in endoplasmic reticulum; endosome membrane; and lysosomal membrane. Predicted to be active in cell surface. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR52E3P Gene

olfactory g>receptorg>, family 52, subfamily E, member 3 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R110P Gene

vomeronasal 1 g>receptorg> 110 pseudog>gg>ene

OR51F4P Gene

olfactory g>receptorg>, family 51, subfamily F, member 4 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR51T1 Gene

olfactory g>receptorg>, family 51, subfamily T, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

C1D Gene

C1D nuclear g>receptorg> corepressor

The protein encoded by this g>gg>ene is a DNA binding>gg> and apoptosis-inducing>gg> protein and is localized in the nucleus. It is also a Rac3-interacting>gg> protein which acts as a corepressor for the thyroid hormone g>receptorg>. This protein is thoug>gg>ht to reg>gg>ulate TRAX/Translin complex formation. Alternate splicing>gg> results in multiple transcript variants that encode the same protein. Multiple pseudog>gg>enes of this g>gg>ene are found on chromosome 10.[provided by RefSeq, Jun 2010]

OR52J3 Gene

olfactory g>receptorg>, family 52, subfamily J, member 3

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

g>Gg>NRHR Gene

g>gg>onadotropin-releasing>gg> hormone g>receptorg>

This g>gg>ene encodes the g>receptorg> for type 1 g>gg>onadotropin-releasing>gg> hormone. This g>receptorg> is a member of the seven-transmembrane, g>Gg>-protein coupled g>receptorg> (g>Gg>PCR) family. It is expressed on the surface of pituitary g>gg>onadotrope cells as well as lymphocytes, breast, ovary, and prostate. Following>gg> binding>gg> of g>gg>onadotropin-releasing>gg> hormone, the g>receptorg> associates with g>Gg>-proteins that activate a phosphatidylinositol-calcium second messeng>gg>er system. Activation of the g>receptorg> ultimately causes the release of g>gg>onadotropic luteinizing>gg> hormone (LH) and follicle stimulating>gg> hormone (FSH). Defects in this g>gg>ene are a cause of hypog>gg>onadotropic hypog>gg>onadism (HH). Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. More than 18 transcription initiation sites in the 5' reg>gg>ion and multiple polyA sig>gg>nals in the 3' reg>gg>ion have been identified for this g>gg>ene. [provided by RefSeq, Jul 2008]

OR5V1 Gene

olfactory g>receptorg>, family 5, subfamily V, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4C9P Gene

olfactory g>receptorg>, family 4, subfamily C, member 9 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2I1P Gene

olfactory g>receptorg>, family 2, subfamily I, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7L1P Gene

olfactory g>receptorg>, family 7, subfamily L, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC105377827 Gene

scaveng>gg>er g>receptorg> class F member 2-like

LOC100421006 Gene

very low density lipoprotein g>receptorg> pseudog>gg>ene

OR1D5 Gene

olfactory g>receptorg>, family 1, subfamily D, member 5

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR1D4 Gene

olfactory g>receptorg>, family 1, subfamily D, member 4 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]

OR1D2 Gene

olfactory g>receptorg>, family 1, subfamily D, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10J2P Gene

olfactory g>receptorg>, family 10, subfamily J, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100422061 Gene

olfactory g>receptorg>, family 11, subfamily H, member 4 pseudog>gg>ene

LOC100422063 Gene

olfactory g>receptorg>, family 13, subfamily H, member 1 pseudog>gg>ene

LOC100422062 Gene

olfactory g>receptorg>, family 11, subfamily A, member 1 pseudog>gg>ene

OR7E163P Gene

olfactory g>receptorg>, family 7, subfamily E, member 163, pseudog>gg>ene

NKTR Gene

natural killer cell trig>gg>g>gg>ering>gg> g>receptorg>

This g>gg>ene encodes a membrane-anchored protein with a hydrophobic amino terminal domain and a cyclophilin-like PPIase domain. It is present on the surface of natural killer cells and facilitates their binding>gg> to targ>gg>ets. Its expression is reg>gg>ulated by IL2 activation of the cells. [provided by RefSeq, Jul 2008]

TFRC Gene

transferrin g>receptorg>

This g>gg>ene encodes a cell surface g>receptorg> necessary for cellular iron uptake by the process of g>receptorg>-mediated endocytosis. This g>receptorg> is required for erythropoiesis and neurolog>gg>ic development. Multiple alternatively spliced variants have been identified. [provided by RefSeq, Sep 2015]

TFR2 Gene

transferrin g>receptorg> 2

This g>gg>ene encodes a sing>gg>le-pass type II membrane protein, which is a member of the transferrin g>receptorg>-like family. This protein mediates cellular uptake of transferrin-bound iron, and may be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. Mutations in this g>gg>ene have been associated with hereditary hemochromatosis type III. Alternatively spliced transcript variants encoding>gg> different isoforms have been described for this g>gg>ene. [provided by RefSeq, May 2011]

OR8A3P Gene

olfactory g>receptorg>, family 8, subfamily A, member 3 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

MLNR Gene

motilin g>receptorg>

Motilin is a 22 amino acid peptide hormone expressed throug>gg>hout the g>gg>astrointestinal (g>Gg>I) tract. The protein encoded by this g>gg>ene is a motilin g>receptorg> which is a member of the g>Gg>-protein coupled g>receptorg> 1 family. This member is a multi-pass transmembrane protein, and is an important therapeutic targ>gg>et for the treatment of hypomotility disorders. [provided by RefSeq, Aug>gg> 2011]

VN1R59P Gene

vomeronasal 1 g>receptorg> 59 pseudog>gg>ene

SMO Gene

smoothened, frizzled class g>receptorg>

The protein encoded by this g>gg>ene is a g>Gg> g>protein-coupledg> g>receptorg> that interacts with the patched protein, a g>receptorg> for hedg>gg>ehog>gg> proteins. The encoded protein tranduces sig>gg>nals to other proteins after activation by a hedg>gg>ehog>gg> protein/patched protein complex. [provided by RefSeq, Jul 2010]

CX3CR1 Gene

chemokine (C-X3-C motif) g>receptorg> 1

Fractalkine is a transmembrane protein and chemokine involved in the adhesion and mig>gg>ration of leukocytes. The protein encoded by this g>gg>ene is a g>receptorg> for fractalkine. The encoded protein also is a cog>receptorg> for HIV-1, and some variations in this g>gg>ene lead to increased susceptibility to HIV-1 infection and rapid prog>gg>ression to AIDS. Four transcript variants encoding>gg> two different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jan 2010]

OR4T1P Gene

olfactory g>receptorg>, family 4, subfamily T, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC105376336 Gene

g>gg>lutamate g>receptorg> ionotropic, NMDA 2D-like

MRBC Gene

Monkey RBC g>receptorg>

VN1R47P Gene

vomeronasal 1 g>receptorg> 47 pseudog>gg>ene

TRAV22 Gene

T cell g>receptorg> alpha variable 22

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAV21 Gene

T cell g>receptorg> alpha variable 21

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

RTN4R Gene

reticulon 4 g>receptorg>

This g>gg>ene encodes the g>receptorg> for reticulon 4, olig>gg>odendrocyte myelin g>gg>lycoprotein and myelin-associated g>gg>lycoprotein. This g>receptorg> mediates axonal g>gg>rowth inhibition and may play a role in reg>gg>ulating>gg> axonal reg>gg>eneration and plasticity in the adult central nervous system. [provided by RefSeq, Jul 2008]

TRAV27 Gene

T cell g>receptorg> alpha variable 27

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAV25 Gene

T cell g>receptorg> alpha variable 25

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAV24 Gene

T cell g>receptorg> alpha variable 24

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAV28 Gene

T cell g>receptorg> alpha variable 28 (pseudog>gg>ene)

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRBV25OR9-2 Gene

T cell g>receptorg> beta variable 25/OR9-2 (pseudog>gg>ene)

OR7E128P Gene

olfactory g>receptorg>, family 7, subfamily E, member 128 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4A13P Gene

olfactory g>receptorg>, family 4, subfamily A, member 13 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC105379282 Gene

g>gg>lucose-dependent insulinotropic g>receptorg>-like

ACVRL1 Gene

activin A g>receptorg> type II-like 1

This g>gg>ene encodes a type I cell-surface g>receptorg> for the Tg>Gg>F-beta superfamily of lig>gg>ands. It shares with other type I g>receptorg>s a hig>gg>h deg>gg>ree of similarity in serine-threonine kinase subdomains, a g>gg>lycine- and serine-rich reg>gg>ion (called the g>Gg>S domain) preceding>gg> the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin g>receptorg>-like kinase proteins that form a subfamily of g>receptorg> serine/threonine kinases. Mutations in this g>gg>ene are associated with hemorrhag>gg>ic telang>gg>iectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008]

OR6C5P Gene

olfactory g>receptorg>, family 6, subfamily C, member 5 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

CXADRP2 Gene

coxsackie virus and adenovirus g>receptorg> pseudog>gg>ene 2

CXADRP1 Gene

coxsackie virus and adenovirus g>receptorg> pseudog>gg>ene 1

TAAR7P Gene

trace amine associated g>receptorg> 7, pseudog>gg>ene

APOBR Gene

apolipoprotein B g>receptorg>

Apolipoprotein B48 g>receptorg> is a macrophag>gg>e g>receptorg> that binds to the apolipoprotein B48 of dietary trig>gg>lyceride (Tg>Gg>)-rich lipoproteins. This g>receptorg> may provide essential lipids, lipid-soluble vitamins and other nutrients to reticuloendothelial cells. If overwhelmed with elevated plasma trig>gg>lyceride, the apolipoprotein B48 g>receptorg> may contribute to foam cell formation, endothelial dysfunction, and atherothrombog>gg>enesis. [provided by RefSeq, Jul 2008]

OR11H5P Gene

olfactory g>receptorg>, family 11, subfamily H, member 5 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

IL9RP4 Gene

interleukin 9 g>receptorg> pseudog>gg>ene 4

VN1R86P Gene

vomeronasal 1 g>receptorg> 86 pseudog>gg>ene

VN1R13P Gene

vomeronasal 1 g>receptorg> 13 pseudog>gg>ene

TRDD3 Gene

T cell g>receptorg> delta diversity 3

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRDD2 Gene

T cell g>receptorg> delta diversity 2

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRDD1 Gene

T cell g>receptorg> delta diversity 1

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

LOC102725034 Gene

leukocyte immunog>gg>lobulin-like g>receptorg> subfamily B member 3

OR6A2 Gene

olfactory g>receptorg>, family 6, subfamily A, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4R1P Gene

olfactory g>receptorg>, family 4, subfamily R, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7E11P Gene

olfactory g>receptorg>, family 7, subfamily E, member 11 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRDC Gene

T cell g>receptorg> delta constant

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

CR2 Gene

complement component (3d/Epstein Barr virus) g>receptorg> 2

This g>gg>ene encodes a membrane protein, which functions as a g>receptorg> for Epstein-Barr virus (EBV) binding>gg> on B and T lymphocytes. g>Gg>enetic variations in this g>gg>ene are associated with susceptibility to systemic lupus erythematosus type 9 (SLEB9). Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene.[provided by RefSeq, Sep 2009]

CR1 Gene

complement component (3b/4b) g>receptorg> 1 (Knops blood g>gg>roup)

This g>gg>ene is a member of the g>receptorg>s of complement activation (RCA) family and is located in the 'cluster RCA' reg>gg>ion of chromosome 1. The g>gg>enome is polymorphic at this locus with allele-specific splice variants encoding>gg> different isoforms, based on the presence/absence of long>gg> homolog>gg>ous repeats (LHRs). The g>gg>ene encodes a monomeric sing>gg>le-pass type I membrane g>gg>lycoprotein found on erythrocytes, leukocytes, g>gg>lomerular podocytes, and splenic follicular dendritic cells. The Knops blood g>gg>roup system is a system of antig>gg>ens located on this protein. The protein mediates cellular binding>gg> to particles and immune complexes that have activated complement. Decreases in expression of this protein and/or mutations in this g>gg>ene have been associated with g>gg>allbladder carcinomas, mesang>gg>iocapillary g>gg>lomerulonephritis, systemic lupus erythematosus, sarcoidosis and Alzheimer's disease. Mutations in this g>gg>ene have also been associated with a reduction in Plasmodium falciparum rosetting>gg>, conferring>gg> protection ag>gg>ainst severe malaria. [provided by RefSeq, May 2020]

OR7A1P Gene

olfactory g>receptorg>, family 7, subfamily A, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

ARNTL2 Gene

aryl hydrocarbon g>receptorg> nuclear translocator-like 2

This g>gg>ene encodes a basic helix-loop-helix transcription factor belong>gg>ing>gg> to the PAS (PER, ARNT, SIM) superfamily. The PAS proteins play important roles in adaptation to low atmospheric and cellular oxyg>gg>en levels, exposure to certain environmental pollutants, and diurnal oscillations in lig>gg>ht and temperature. This protein forms a transcriptionally active heterodimer with the circadian CLOCK protein, the structurally related MOP4, and hypoxia-inducible factors, such as HIF1alpha. Consistent with its role as a biolog>gg>ically relevant partner of circadian and hypoxia factors, this protein is coexpressed in reg>gg>ions of the brain such as the thalamus, hypothalamus, and amyg>gg>dala. Alternatively spliced transcript variants encoding>gg> different isoforms have been described for this g>gg>ene. [provided by RefSeq, Oct 2011]

OR7A17 Gene

olfactory g>receptorg>, family 7, subfamily A, member 17

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRg>Gg>-AS1 Gene

T cell g>receptorg> g>gg>amma locus antisense RNA 1

LOC100421989 Gene

olfactory g>receptorg>, family 2, subfamily V, member 2 pseudog>gg>ene

LOC100421985 Gene

olfactory g>receptorg>, family 8, subfamily B, member 3 pseudog>gg>ene

LOC100421984 Gene

olfactory g>receptorg>, family 8, subfamily B, member 8 pseudog>gg>ene

LOC100418631 Gene

olfactory g>receptorg>, family 2, subfamily W, member 1 pseudog>gg>ene

LOC100418633 Gene

olfactory g>receptorg>, family 2, subfamily B, member 6 pseudog>gg>ene

LOC100418632 Gene

olfactory g>receptorg>, family 2, subfamily B, member 2 pseudog>gg>ene

LOC100418634 Gene

olfactory g>receptorg>, family 2, subfamily g>Gg>, member 6 pseudog>gg>ene

LOC100418637 Gene

olfactory g>receptorg>, family 2, subfamily J, member 3 pseudog>gg>ene

LOC100418636 Gene

olfactory g>receptorg>, family 2, subfamily W, member 1 pseudog>gg>ene

LOC100418639 Gene

olfactory g>receptorg>, family 2, subfamily Y, member 1 pseudog>gg>ene

LOC100418638 Gene

olfactory g>receptorg>, family 2, subfamily B, member 2 pseudog>gg>ene

LOC100422185 Gene

olfactory g>receptorg>, family 4, subfamily K, member 15 pseudog>gg>ene

LOC100422182 Gene

olfactory g>receptorg>, family 7, subfamily E, member 24 pseudog>gg>ene

LOC100422181 Gene

olfactory g>receptorg>, family 7, subfamily E, member 24 pseudog>gg>ene

OR10AK1P Gene

olfactory g>receptorg>, family 10, subfamily AK, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5AL2P Gene

olfactory g>receptorg>, family 5, subfamily AL, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC441228 Gene

exportin, tRNA (nuclear export g>receptorg> for tRNAs) pseudog>gg>ene

OR51L1 Gene

olfactory g>receptorg>, family 51, subfamily L, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

CUBN Gene

cubilin (intrinsic factor-cobalamin g>receptorg>)

Cubilin (CUBN) acts as a g>receptorg> for intrinsic factor-vitamin B12 complexes. The role of g>receptorg> is supported by the presence of 27 CUB domains. Cubulin is located within the epithelium of intestine and kidney. Mutations in CUBN may play a role in autosomal recessive meg>gg>aloblastic anemia. [provided by RefSeq, Jul 2008]

OR52B2 Gene

olfactory g>receptorg>, family 52, subfamily B, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR52B6 Gene

olfactory g>receptorg>, family 52, subfamily B, member 6

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR52B4 Gene

olfactory g>receptorg>, family 52, subfamily B, member 4 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]

CCR12P Gene

chemokine (C-C motif) g>receptorg> 12, pseudog>gg>ene

OR10g>Gg>1P Gene

olfactory g>receptorg>, family 10, subfamily g>Gg>, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5BB1P Gene

olfactory g>receptorg>, family 5, subfamily BB, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

g>Gg>LRA3 Gene

g>gg>lycine g>receptorg>, alpha 3

This g>gg>ene encodes a member of the lig>gg>and-g>gg>ated ion channel protein family. The encoded protein is a member of the g>gg>lycine g>receptorg> subfamily. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Nov 2013]

g>Gg>LRA2 Gene

g>gg>lycine g>receptorg>, alpha 2

The g>gg>lycine g>receptorg> consists of two subunits, alpha and beta, and acts as a pentamer. The protein encoded by this g>gg>ene is an alpha subunit and can bind strychnine. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene.[provided by RefSeq, Jan 2010]

g>Gg>LRA4 Gene

g>gg>lycine g>receptorg>, alpha 4

This g>gg>ene encodes a g>gg>lycine g>receptorg> and member of the lig>gg>and-g>gg>ated ion channel family of proteins. The encoded protein is missing>gg> the fourth transmembrane reg>gg>ion compared to related proteins in mouse and rat, and experimental data sug>gg>g>gg>ests that the human protein is functionally inactive. However, there is strong>gg> evidence to support transcription of this g>gg>ene. As a result, RefSeq, in collaboration with Ensembl-g>Gg>ENCODE, has determined that this locus is best described as a transcribed pseudog>gg>ene. [provided by RefSeq, Aug>gg> 2019]

LOC100422108 Gene

olfactory g>receptorg>, family 4, subfamily F, member 21 pseudog>gg>ene

OR4C15 Gene

olfactory g>receptorg>, family 4, subfamily C, member 15

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4C16 Gene

olfactory g>receptorg>, family 4, subfamily C, member 16 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]

OR4C11 Gene

olfactory g>receptorg>, family 4, subfamily C, member 11

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4C13 Gene

olfactory g>receptorg>, family 4, subfamily C, member 13

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4C12 Gene

olfactory g>receptorg>, family 4, subfamily C, member 12

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

Tg>Gg>FBR2 Gene

transforming>gg> g>gg>rowth factor, beta g>receptorg> II (70/80kDa)

The protein encoded by this g>gg>ene is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with Tg>Gg>F-beta g>receptorg> type-1, and binds Tg>Gg>F-beta. This g>receptorg>/lig>gg>and complex phosphorylates proteins, which then enter the nucleus and reg>gg>ulate the transcription of g>gg>enes related to cell proliferation, cell cycle arrest, wound healing>gg>, immunosuppression, and tumorig>gg>enesis. Mutations in this g>gg>ene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding>gg> different isoforms have been characterized. [provided by RefSeq, Aug>gg> 2017]

Tg>Gg>FBR1 Gene

transforming>gg> g>gg>rowth factor, beta g>receptorg> 1

The protein encoded by this g>gg>ene forms a heteromeric complex with type II Tg>Gg>F-beta g>receptorg>s when bound to Tg>Gg>F-beta, transducing>gg> the Tg>Gg>F-beta sig>gg>nal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this g>gg>ene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Aug>gg> 2008]

OR2AJ1 Gene

olfactory g>receptorg>, family 2, subfamily AJ, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5AN2P Gene

olfactory g>receptorg>, family 5, subfamily AN, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4K4P Gene

olfactory g>receptorg>, family 4, subfamily K, member 4 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5AR1 Gene

olfactory g>receptorg>, family 5, subfamily AR, member 1 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]

PNRC1 Gene

proline-rich nuclear g>receptorg> coactivator 1

Predicted to be involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay. Predicted to be active in P-body and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PNRC2 Gene

proline-rich nuclear g>receptorg> coactivator 2

Involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay. Located in g>Gg>olg>gg>i apparatus; P-body; and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PRLR Gene

prolactin g>receptorg>

This g>gg>ene encodes a g>receptorg> for the anterior pituitary hormone, prolactin, and belong>gg>s to the type I cytokine g>receptorg> family. Prolactin-dependent sig>gg>naling>gg> occurs as the result of lig>gg>and-induced dimerization of the prolactin g>receptorg>. Several alternatively spliced transcript variants encoding>gg> different membrane-bound and soluble isoforms have been described for this g>gg>ene, which may function to modulate the endocrine and autocrine effects of prolactin in normal tissue and cancer. [provided by RefSeq, Feb 2011]

LOC100422252 Gene

olfactory g>receptorg>, family 11, subfamily H, member 12 pseudog>gg>ene

OR1L8 Gene

olfactory g>receptorg>, family 1, subfamily L, member 8

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR1L4 Gene

olfactory g>receptorg>, family 1, subfamily L, member 4

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR1L6 Gene

olfactory g>receptorg>, family 1, subfamily L, member 6

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR1L1 Gene

olfactory g>receptorg>, family 1, subfamily L, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR1L3 Gene

olfactory g>receptorg>, family 1, subfamily L, member 3

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4A42P Gene

olfactory g>receptorg>, family 4, subfamily A, member 42 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R6P Gene

vomeronasal 1 g>receptorg> 6 pseudog>gg>ene

OR7E111P Gene

olfactory g>receptorg>, family 7, subfamily E, member 111 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R54P Gene

vomeronasal 1 g>receptorg> 54 pseudog>gg>ene

OR7E43P Gene

olfactory g>receptorg>, family 7, subfamily E, member 43 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R101P Gene

vomeronasal 1 g>receptorg> 101 pseudog>gg>ene

VN1R33P Gene

vomeronasal 1 g>receptorg> 33 pseudog>gg>ene

VN1R104P Gene

vomeronasal 1 g>receptorg> 104 pseudog>gg>ene

LOC100421998 Gene

olfactory g>receptorg>, family 4, subfamily C, member 6 pseudog>gg>ene

LOC100421990 Gene

olfactory g>receptorg>, family 4, subfamily B, member 1 pseudog>gg>ene

LOC100421993 Gene

olfactory g>receptorg>, family 4, subfamily A, member 5 pseudog>gg>ene

LOC100287357 Gene

coxsackie virus and adenovirus g>receptorg> pseudog>gg>ene

PTg>Gg>ER4 Gene

prostag>gg>landin E g>receptorg> 4 (subtype EP4)

The protein encoded by this g>gg>ene is a member of the g>Gg>-protein coupled g>receptorg> family. This protein is one of four g>receptorg>s identified for prostag>gg>landin E2 (Pg>Gg>E2). This g>receptorg> can activate T-cell factor sig>gg>naling>gg>. It has been shown to mediate Pg>Gg>E2 induced expression of early g>gg>rowth response 1 (Eg>Gg>R1), reg>gg>ulate the level and stability of cyclooxyg>gg>enase-2 mRNA, and lead to the phosphorylation of g>gg>lycog>gg>en synthase kinase-3. Knockout studies in mice sug>gg>g>gg>est that this g>receptorg> may be involved in the neonatal adaptation of circulatory system, osteoporosis, as well as initiation of skin immune responses. [provided by RefSeq, Jul 2008]

PTg>Gg>ER1 Gene

prostag>gg>landin E g>receptorg> 1 (subtype EP1), 42kDa

The protein encoded by this g>gg>ene is a member of the g>Gg> g>protein-coupledg> g>receptorg> family. This protein is one of four g>receptorg>s identified for prostag>gg>landin E2 (Pg>Gg>E2). Throug>gg>h a phosphatidylinositol-calcium second messeng>gg>er system, g>Gg>-Q proteins mediate this g>receptorg>'s activity. Knockout studies in mice sug>gg>g>gg>ested a role of this g>receptorg> in mediating>gg> alg>gg>esia and in reg>gg>ulation of blood pressure. Studies in mice also sug>gg>g>gg>ested that this g>gg>ene may mediate adrenocorticotropic hormone response to bacterial endotoxin. [provided by RefSeq, Jul 2008]

PTg>Gg>ER2 Gene

prostag>gg>landin E g>receptorg> 2 (subtype EP2), 53kDa

This g>gg>ene encodes a g>receptorg> for prostag>gg>landin E2, a metabolite of arachidonic acid which has different biolog>gg>ic activities in a wide rang>gg>e of tissues. Mutations in this g>gg>ene are associated with aspirin-induced susceptibility to asthma. [provided by RefSeq, Oct 2009]

PTg>Gg>ER3 Gene

prostag>gg>landin E g>receptorg> 3 (subtype EP3)

The protein encoded by this g>gg>ene is a member of the g>Gg>-protein coupled g>receptorg> family. This protein is one of four g>receptorg>s identified for prostag>gg>landin E2 (Pg>Gg>E2). This g>receptorg> may have many biolog>gg>ical functions, which involve dig>gg>estion, nervous system, kidney reabsorption, and uterine contraction activities. Studies of the mouse counterpart sug>gg>g>gg>est that this g>receptorg> may also mediate adrenocorticotropic hormone response as well as fever g>gg>eneration in response to exog>gg>enous and endog>gg>enous stimuli. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Aug>gg> 2009]

OR13C4 Gene

olfactory g>receptorg>, family 13, subfamily C, member 4

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR13C5 Gene

olfactory g>receptorg>, family 13, subfamily C, member 5

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR13C7 Gene

olfactory g>receptorg>, family 13, subfamily C, member 7 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]

OR13C2 Gene

olfactory g>receptorg>, family 13, subfamily C, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR13C3 Gene

olfactory g>receptorg>, family 13, subfamily C, member 3

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR13C8 Gene

olfactory g>receptorg>, family 13, subfamily C, member 8

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR13C9 Gene

olfactory g>receptorg>, family 13, subfamily C, member 9

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TNFRSF8 Gene

tumor necrosis factor g>receptorg> superfamily, member 8

The protein encoded by this g>gg>ene is a member of the TNF-g>receptorg> superfamily. This g>receptorg> is expressed by activated, but not by resting>gg>, T and B cells. TRAF2 and TRAF5 can interact with this g>receptorg>, and mediate the sig>gg>nal transduction that leads to the activation of NF-kappaB. This g>receptorg> is a positive reg>gg>ulator of apoptosis, and also has been shown to limit the proliferative potential of autoreactive CD8 effector T cells and protect the body ag>gg>ainst autoimmunity. Two alternatively spliced transcript variants of this g>gg>ene encoding>gg> distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

TNFRSF9 Gene

tumor necrosis factor g>receptorg> superfamily, member 9

The protein encoded by this g>gg>ene is a member of the TNF-g>receptorg> superfamily. This g>receptorg> contributes to the clonal expansion, survival, and development of T cells. It can also induce proliferation in peripheral monocytes, enhance T cell apoptosis induced by TCR/CD3 trig>gg>g>gg>ered activation, and reg>gg>ulate CD28 co-stimulation to promote Th1 cell responses. The expression of this g>receptorg> is induced by lymphocyte activation. TRAF adaptor proteins have been shown to bind to this g>receptorg> and transduce the sig>gg>nals leading>gg> to activation of NF-kappaB. [provided by RefSeq, Jul 2008]

TNFRSF4 Gene

tumor necrosis factor g>receptorg> superfamily, member 4

The protein encoded by this g>gg>ene is a member of the TNF-g>receptorg> superfamily. This g>receptorg> has been shown to activate NF-kappaB throug>gg>h its interaction with adaptor proteins TRAF2 and TRAF5. Knockout studies in mice sug>gg>g>gg>ested that this g>receptorg> promotes the expression of apoptosis inhibitors BCL2 and BCL2lL1/BCL2-XL, and thus suppresses apoptosis. The knockout studies also sug>gg>g>gg>ested the roles of this g>receptorg> in CD4+ T cell response, as well as in T cell-dependent B cell proliferation and differentiation. [provided by RefSeq, Jul 2008]

TRBV22OR9-2 Gene

T cell g>receptorg> beta variable 22/OR9-2 (pseudog>gg>ene)

LCOR Gene

lig>gg>and dependent nuclear g>receptorg> corepressor

LCOR is a transcriptional corepressor widely expressed in fetal and adult tissues that is recruited to ag>gg>onist-bound nuclear g>receptorg>s throug>gg>h a sing>gg>le LxxLL motif, also referred to as a nuclear g>receptorg> (NR) box (Fernandes et al., 2003 [PubMed 12535528]).[supplied by OMIM, Mar 2008]

OR4F28P Gene

olfactory g>receptorg>, family 4, subfamily F, member 28 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OXTR Gene

oxytocin g>receptorg>

The protein encoded by this g>gg>ene belong>gg>s to the g>Gg>-protein coupled g>receptorg> family and acts as a g>receptorg> for oxytocin. Its activity is mediated by g>Gg> proteins which activate a phosphatidylinositol-calcium second messeng>gg>er system. The oxytocin-oxytocin g>receptorg> system plays an important role in the uterus during>gg> parturition. [provided by RefSeq, Jul 2008]

EPS8 Gene

epidermal g>gg>rowth factor g>receptorg> pathway substrate 8

This g>gg>ene encodes a member of the EPS8 family. This protein contains one PH domain and one SH3 domain. It functions as part of the Eg>Gg>FR pathway, thoug>gg>h its exact role has not been determined. Hig>gg>hly similar proteins in other org>gg>anisms are involved in the transduction of sig>gg>nals from Ras to Rac and g>gg>rowth factor-mediated actin remodeling>gg>. Alternate transcriptional splice variants of this g>gg>ene have been observed but have not been thoroug>gg>hly characterized. [provided by RefSeq, Jul 2008]

FCg>Gg>RT Gene

Fc frag>gg>ment of Ig>gg>g>Gg>, g>receptorg>, transporter, alpha

This g>gg>ene encodes a g>receptorg> that binds the Fc reg>gg>ion of monomeric immunog>gg>lobulin g>Gg>. The encoded protein transfers immunog>gg>lobulin g>Gg> antibodies from mother to fetus across the placenta. This protein also binds immunog>gg>lobulin g>Gg> to protect the antibody from deg>gg>radation. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Apr 2009]

LOC100887081 Gene

leukocyte immunog>gg>lobulin-like g>receptorg>, subfamily A (with TM domain), member 6 pseudog>gg>ene

OR7M1P Gene

olfactory g>receptorg>, family 7, subfamily M, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5AH1P Gene

olfactory g>receptorg>, family 5, subfamily AH, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100421169 Gene

thyroid hormone g>receptorg> interactor 11 pseudog>gg>ene

IRS4 Gene

insulin g>receptorg> substrate 4

IRS4 encodes the insulin g>receptorg> substrate 4, a cytoplasmic protein that contains many potential tyrosine and serine/threonine phosphorylation sites. Tyrosine-phosphorylated IRS4 protein has been shown to associate with cytoplasmic sig>gg>nalling>gg> molecules that contain SH2 domains. The IRS4 protein is phosphorylated by the insulin g>receptorg> tyrosine kinase upon g>receptorg> stimulation.. [provided by RefSeq, Jul 2008]

IRS1 Gene

insulin g>receptorg> substrate 1

This g>gg>ene encodes a protein which is phosphorylated by insulin g>receptorg> tyrosine kinase. Mutations in this g>gg>ene are associated with type II diabetes and susceptibility to insulin resistance. [provided by RefSeq, Nov 2009]

IRS2 Gene

insulin g>receptorg> substrate 2

This g>gg>ene encodes the insulin g>receptorg> substrate 2, a cytoplasmic sig>gg>naling>gg> molecule that mediates effects of insulin, insulin-like g>gg>rowth factor 1, and other cytokines by acting>gg> as a molecular adaptor between diverse g>receptorg> tyrosine kinases and downstream effectors. The product of this g>gg>ene is phosphorylated by the insulin g>receptorg> tyrosine kinase upon g>receptorg> stimulation, as well as by an interleukin 4 g>receptorg>-associated kinase in response to IL4 treatment. [provided by RefSeq, Jul 2008]

OR10Q1 Gene

olfactory g>receptorg>, family 10, subfamily Q, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

ROBO2 Gene

roundabout, axon g>gg>uidance g>receptorg>, homolog>gg> 2 (Drosophila)

The protein encoded by this g>gg>ene belong>gg>s to the ROBO family, part of the immunog>gg>lobulin superfamily of proteins that are hig>gg>hly conserved from fly to human. The encoded protein is a transmembrane g>receptorg> for the slit homolog>gg> 2 protein and functions in axon g>gg>uidance and cell mig>gg>ration. Mutations in this g>gg>ene are associated with vesicoureteral reflux, characterized by the backward flow of urine from the bladder into the ureters or the kidney. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Feb 2014]

TRg>Gg>V6 Gene

T cell g>receptorg> g>gg>amma variable 6 (pseudog>gg>ene)

TRg>Gg>V7 Gene

T cell g>receptorg> g>gg>amma variable 7 (pseudog>gg>ene)

TRg>Gg>V4 Gene

T cell g>receptorg> g>gg>amma variable 4

Predicted to be involved in adaptive immune response and innate immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in external side of plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRg>Gg>V5 Gene

T cell g>receptorg> g>gg>amma variable 5

Predicted to be involved in adaptive immune response and innate immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in external side of plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRg>Gg>V2 Gene

T cell g>receptorg> g>gg>amma variable 2

Predicted to be involved in adaptive immune response and innate immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in external side of plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRg>Gg>V3 Gene

T cell g>receptorg> g>gg>amma variable 3

Predicted to enable MHC protein binding>gg> activity and peptide antig>gg>en binding>gg> activity. Predicted to be involved in immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in external side of plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRg>Gg>V1 Gene

T cell g>receptorg> g>gg>amma variable 1 (non-functional)

Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in external side of plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRg>Gg>V8 Gene

T cell g>receptorg> g>gg>amma variable 8

Predicted to be involved in adaptive immune response and innate immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in external side of plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRg>Gg>V9 Gene

T cell g>receptorg> g>gg>amma variable 9

Predicted to enable MHC protein binding>gg> activity and peptide antig>gg>en binding>gg> activity. Predicted to be involved in adaptive immune response and innate immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in external side of plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRPV5 Gene

transient g>receptorg> potential cation channel, subfamily V, member 5

This g>gg>ene is a member of the transient g>receptorg> family and the TrpV subfamily. The calcium-selective channel encoded by this g>gg>ene has 6 transmembrane-spanning>gg> domains, multiple potential phosphorylation sites, an N-linked g>gg>lycosylation site, and 5 ANK repeats. This protein forms homotetramers or heterotetramers and is activated by a low internal calcium level. [provided by RefSeq, Jul 2008]

TRPV4 Gene

transient g>receptorg> potential cation channel, subfamily V, member 4

This g>gg>ene encodes a member of the OSM9-like transient g>receptorg> potential channel (OTRPC) subfamily in the transient g>receptorg> potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thoug>gg>ht to be involved in the reg>gg>ulation of systemic osmotic pressure. Mutations in this g>gg>ene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Apr 2010]

TRPV6 Gene

transient g>receptorg> potential cation channel, subfamily V, member 6

This g>gg>ene encodes a member of a family of multipass membrane proteins that functions as calcium channels. The encoded protein contains N-terminal ankyrin repeats, which are required for channel assembly and reg>gg>ulation. Translation initiation for this protein occurs at a non-AUg>Gg> start codon that is decoded as methionine. This g>gg>ene is situated next to a closely related g>gg>ene for transient g>receptorg> potential cation channel subfamily V member 5 (TRPV5). This locus has experienced positive selection in non-African populations, resulting>gg> in several non-synonymous codon differences among>gg> individuals of different g>gg>enetic backg>gg>rounds. [provided by RefSeq, Feb 2015]

TRPV1 Gene

transient g>receptorg> potential cation channel, subfamily V, member 1

Capsaicin, the main pung>gg>ent ing>gg>redient in hot chili peppers, elicits a sensation of burning>gg> pain by selectively activating>gg> sensory neurons that convey information about noxious stimuli to the central nervous system. The protein encoded by this g>gg>ene is a g>receptorg> for capsaicin and is a non-selective cation channel that is structurally related to members of the TRP family of ion channels. This g>receptorg> is also activated by increases in temperature in the noxious rang>gg>e, sug>gg>g>gg>esting>gg> that it functions as a transducer of painful thermal stimuli in vivo. Four transcript variants encoding>gg> the same protein, but with different 5' UTR sequence, have been described for this g>gg>ene. [provided by RefSeq, Jul 2008]

TRPV3 Gene

transient g>receptorg> potential cation channel, subfamily V, member 3

This g>gg>ene product belong>gg>s to a family of nonselective cation channels that function in a variety of processes, including>gg> temperature sensation and vasoreg>gg>ulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin, and are activated at distinct physiolog>gg>ical temperatures. This channel is activated at temperatures between 22 and 40 deg>gg>rees C. This g>gg>ene lies in close proximity to another family member g>gg>ene on chromosome 17, and the two encoded proteins are thoug>gg>ht to associate with each other to form heteromeric channels. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Apr 2012]

TRPV2 Gene

transient g>receptorg> potential cation channel, subfamily V, member 2

This g>gg>ene encodes an ion channel that is activated by hig>gg>h temperatures above 52 deg>gg>rees Celsius. The protein may be involved in transduction of hig>gg>h-temperature heat responses in sensory g>gg>ang>gg>lia. It is thoug>gg>ht that in other tissues the channel may be activated by stimuli other than heat. [provided by RefSeq, Jul 2008]

TRg>Gg>VB Gene

T cell g>receptorg> g>gg>amma variable B (pseudog>gg>ene)

TRg>Gg>VA Gene

T cell g>receptorg> g>gg>amma variable A (pseudog>gg>ene)

Fg>Gg>FR4 Gene

fibroblast g>gg>rowth factor g>receptorg> 4

The protein encoded by this g>gg>ene is a tyrosine kinase and cell surface g>receptorg> for fibroblast g>gg>rowth factors. The encoded protein is involved in the reg>gg>ulation of several pathways, including>gg> cell proliferation, cell differentiation, cell mig>gg>ration, lipid metabolism, bile acid biosynthesis, vitamin D metabolism, g>gg>lucose uptake, and phosphate homeostasis. This protein consists of an extracellular reg>gg>ion, composed of three immunog>gg>lobulin-like domains, a sing>gg>le hydrophobic membrane-spanning>gg> seg>gg>ment, and a cytoplasmic tyrosine kinase domain. The extracellular portion interacts with fibroblast g>gg>rowth factors, setting>gg> in motion a cascade of downstream sig>gg>nals, ultimately influencing>gg> mitog>gg>enesis and differentiation. [provided by RefSeq, Aug>gg> 2017]

Fg>Gg>FR2 Gene

fibroblast g>gg>rowth factor g>receptorg> 2

The protein encoded by this g>gg>ene is a member of the fibroblast g>gg>rowth factor g>receptorg> family, where amino acid sequence is hig>gg>hly conserved between members and throug>gg>hout evolution. Fg>Gg>FR family members differ from one another in their lig>gg>and affinities and tissue distribution. A full-leng>gg>th representative protein consists of an extracellular reg>gg>ion, composed of three immunog>gg>lobulin-like domains, a sing>gg>le hydrophobic membrane-spanning>gg> seg>gg>ment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast g>gg>rowth factors, setting>gg> in motion a cascade of downstream sig>gg>nals, ultimately influencing>gg> mitog>gg>enesis and differentiation. This particular family member is a hig>gg>h-affinity g>receptorg> for acidic, basic and/or keratinocyte g>gg>rowth factor, depending>gg> on the isoform. Mutations in this g>gg>ene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis g>gg>yrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding>gg> different isoforms have been noted for this g>gg>ene. [provided by RefSeq, Jan 2009]

Fg>Gg>FR3 Gene

fibroblast g>gg>rowth factor g>receptorg> 3

This g>gg>ene encodes a member of the fibroblast g>gg>rowth factor g>receptorg> (Fg>Gg>FR) family, with its amino acid sequence being>gg> hig>gg>hly conserved between members and among>gg> diverg>gg>ent species. Fg>Gg>FR family members differ from one another in their lig>gg>and affinities and tissue distribution. A full-leng>gg>th representative protein would consist of an extracellular reg>gg>ion, composed of three immunog>gg>lobulin-like domains, a sing>gg>le hydrophobic membrane-spanning>gg> seg>gg>ment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast g>gg>rowth factors, setting>gg> in motion a cascade of downstream sig>gg>nals, ultimately influencing>gg> mitog>gg>enesis and differentiation. This particular family member binds acidic and basic fibroblast g>gg>rowth hormone and plays a role in bone development and maintenance. Mutations in this g>gg>ene lead to craniosynostosis and multiple types of skeletal dysplasia. [provided by RefSeq, Aug>gg> 2017]

Fg>Gg>FR1 Gene

fibroblast g>gg>rowth factor g>receptorg> 1

The protein encoded by this g>gg>ene is a member of the fibroblast g>gg>rowth factor g>receptorg> (Fg>Gg>FR) family, where amino acid sequence is hig>gg>hly conserved between members and throug>gg>hout evolution. Fg>Gg>FR family members differ from one another in their lig>gg>and affinities and tissue distribution. A full-leng>gg>th representative protein consists of an extracellular reg>gg>ion, composed of three immunog>gg>lobulin-like domains, a sing>gg>le hydrophobic membrane-spanning>gg> seg>gg>ment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast g>gg>rowth factors, setting>gg> in motion a cascade of downstream sig>gg>nals, ultimately influencing>gg> mitog>gg>enesis and differentiation. This particular family member binds both acidic and basic fibroblast g>gg>rowth factors and is involved in limb induction. Mutations in this g>gg>ene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteog>gg>lophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving>gg> this g>gg>ene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]

AVPR2 Gene

arg>gg>inine vasopressin g>receptorg> 2

This g>gg>ene encodes the vasopressin g>receptorg>, type 2, also known as the V2 g>receptorg>, which belong>gg>s to the seven-transmembrane-domain g>Gg> g>protein-coupledg> g>receptorg> (g>Gg>PCR) superfamily, and couples to g>Gg>s thus stimulating>gg> adenylate cyclase. The subfamily that includes the V2 g>receptorg>, the V1a and V1b vasopressin g>receptorg>s, the oxytocin g>receptorg>, and isotocin and mesotocin g>receptorg>s in non-mammals, is well conserved, thoug>gg>h several members sig>gg>nal via other g>Gg> proteins. All bind similar cyclic nonapeptide hormones. The V2 g>receptorg> is expressed in the kidney tubule, predominantly in the distal convoluted tubule and collecting>gg> ducts, where its primary property is to respond to the pituitary hormone arg>gg>inine vasopressin (AVP) by stimulating>gg> mechanisms that concentrate the urine and maintain water homeostasis in the org>gg>anism. When the function of this g>gg>ene is lost, the disease Nephrog>gg>enic Diabetes Insipidus (NDI) results. The V2 g>receptorg> is also expressed outside the kidney althoug>gg>h its tissue localization is uncertain. When these 'extrarenal g>receptorg>s' are stimulated by infusion of a V2 selective ag>gg>onist (dDAVP), a variety of clotting>gg> factors are released into the bloodstream. The physiolog>gg>ic importance of this property is not known - its absence does not appear to be detrimental in NDI patients. The g>gg>ene expression has also been described in fetal lung>gg> tissue and lung>gg> cancer associated with alternative splicing>gg>. [provided by RefSeq, Jul 2008]

PTg>Gg>FR Gene

prostag>gg>landin F g>receptorg> (FP)

The protein encoded by this g>gg>ene is member of the g>Gg>-protein coupled g>receptorg> family. This protein is a g>receptorg> for prostag>gg>landin F2-alpha (Pg>Gg>F2-alpha), which is known to be a potent luteolytic ag>gg>ent, and may also be involved in modulating>gg> intraocular pressure and smooth muscle contraction in uterus. Knockout studies in mice sug>gg>g>gg>est that the interaction of Pg>Gg>F2-alpha with this g>receptorg> may initiate parturition in ovarian luteal cells and thus induce luteolysis. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

OR7E19P Gene

olfactory g>receptorg>, family 7, subfamily E, member 19 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRAT1 Gene

T cell g>receptorg> associated transmembrane adaptor 1

Predicted to enable transmembrane g>receptorg> protein tyrosine kinase adaptor activity. Acts upstream of or within neg>gg>ative reg>gg>ulation of g>receptorg> recycling>gg>; neg>gg>ative reg>gg>ulation of transport; and positive reg>gg>ulation of sig>gg>nal transduction. Located in centriolar satellite; mitotic spindle; and plasma membrane. Part of T cell g>receptorg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC102725031 Gene

leukocyte immunog>gg>lobulin-like g>receptorg> subfamily B member 3

OR4W1P Gene

olfactory g>receptorg>, family 4, subfamily W, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR13D1 Gene

olfactory g>receptorg>, family 13, subfamily D, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

NCOA4P1 Gene

nuclear g>receptorg> coactivator 4 pseudog>gg>ene 1

OR8X1P Gene

olfactory g>receptorg>, family 8, subfamily X, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR12D1 Gene

olfactory g>receptorg>, family 12, subfamily D, member 1 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]

OR12D2 Gene

olfactory g>receptorg>, family 12, subfamily D, member 2 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]

OR12D3 Gene

olfactory g>receptorg>, family 12, subfamily D, member 3

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

BRS3 Gene

bombesin-like g>receptorg> 3

The protein encoded by this g>gg>ene is a g>Gg> g>protein-coupledg> membrane g>receptorg> that binds bombesin-like peptides. This binding>gg> results in activation of a phosphatidylinositol-calcium second messeng>gg>er system, with physiolog>gg>ical effects including>gg> reg>gg>ulation of metabolic rate, g>gg>lucose metabolism, and hypertension. [provided by RefSeq, Sep 2011]

LOC100422104 Gene

olfactory g>receptorg>, family 7, subfamily A, member 17 pseudog>gg>ene

LOC100422102 Gene

olfactory g>receptorg>, family 7, subfamily E, member 24 pseudog>gg>ene

LOC100422100 Gene

olfactory g>receptorg>, family 6, subfamily C, member 65 pseudog>gg>ene

LOC100422101 Gene

olfactory g>receptorg>, family 4, subfamily F, member 21 pseudog>gg>ene

OR2W3 Gene

olfactory g>receptorg>, family 2, subfamily W, member 3

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2W1 Gene

olfactory g>receptorg>, family 2, subfamily W, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2W5 Gene

olfactory g>receptorg>, family 2, subfamily W, member 5 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene has a coding>gg> sequence that is comparable in leng>gg>th to other olfactory g>receptorg> g>gg>enes, but it should be noted that a frameshift is present in the 3' coding>gg> reg>gg>ion that disrupts the 7-transmembrane domain structure in the protein. It is unclear if the protein can function as an olfactory g>receptorg> or if an alternate function is served. For this reason, this g>gg>ene has also been interpreted to be a pseudog>gg>ene. [provided by RefSeq, Jan 2010]

KIR2DL5B Gene

killer cell immunog>gg>lobulin-like g>receptorg>, two domains, long>gg> cytoplasmic tail, 5B

Killer cell immunog>gg>lobulin-like g>receptorg>s (KIRs) are transmembrane g>gg>lycoproteins expressed by natural killer cells and subsets of T cells. The KIR g>gg>enes are polymorphic and hig>gg>hly homolog>gg>ous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte g>receptorg> complex (LRC). The g>gg>ene content of the KIR g>gg>ene cluster varies among>gg> haplotypes, althoug>gg>h several `framework` g>gg>enes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunog>gg>lobulin domains (2D or 3D) and by whether they have a long>gg> (L) or short (S) cytoplasmic domain. KIR proteins with the long>gg> cytoplasmic domain transduce inhibitory sig>gg>nals upon lig>gg>and binding>gg> via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding>gg> protein to transduce activating>gg> sig>gg>nals. The lig>gg>ands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thoug>gg>ht to play an important role in reg>gg>ulation of the immune response. [provided by RefSeq, Jul 2008]

KIR2DL5A Gene

killer cell immunog>gg>lobulin-like g>receptorg>, two domains, long>gg> cytoplasmic tail, 5A

Killer cell immunog>gg>lobulin-like g>receptorg>s (KIRs) are transmembrane g>gg>lycoproteins expressed by natural killer cells and subsets of T cells. The KIR g>gg>enes are polymorphic and hig>gg>hly homolog>gg>ous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte g>receptorg> complex (LRC). The g>gg>ene content of the KIR g>gg>ene cluster varies among>gg> haplotypes, althoug>gg>h several `framework` g>gg>enes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunog>gg>lobulin domains (2D or 3D) and by whether they have a long>gg> (L) or short (S) cytoplasmic domain. KIR proteins with the long>gg> cytoplasmic domain transduce inhibitory sig>gg>nals upon lig>gg>and binding>gg> via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding>gg> protein to transduce activating>gg> sig>gg>nals. The lig>gg>ands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thoug>gg>ht to play an important role in reg>gg>ulation of the immune response. [provided by RefSeq, Jul 2008]

OR7E136P Gene

olfactory g>receptorg>, family 7, subfamily E, member 136 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR51D1 Gene

olfactory g>receptorg>, family 51, subfamily D, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4C50P Gene

olfactory g>receptorg>, family 4, subfamily C, member 50 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

HCRTR2 Gene

hypocretin (orexin) g>receptorg> 2

The protein encoded by this g>gg>ene is a g>Gg>-protein coupled g>receptorg> involved in the reg>gg>ulation of feeding>gg> behavior. The encoded protein binds the hypothalamic neuropeptides orexin A and orexin B. A related g>gg>ene (HCRTR1) encodes a g>Gg>-protein coupled g>receptorg> that selectively binds orexin A. [provided by RefSeq, Jan 2009]

OR52E8 Gene

olfactory g>receptorg>, family 52, subfamily E, member 8

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5F1 Gene

olfactory g>receptorg>, family 5, subfamily F, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRAJ58 Gene

T cell g>receptorg> alpha joining>gg> 58 (non-functional)

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ56 Gene

T cell g>receptorg> alpha joining>gg> 56

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ57 Gene

T cell g>receptorg> alpha joining>gg> 57

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ54 Gene

T cell g>receptorg> alpha joining>gg> 54

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

OR5J1P Gene

olfactory g>receptorg>, family 5, subfamily J, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

NR2C2 Gene

nuclear g>receptorg> subfamily 2, g>gg>roup C, member 2

This g>gg>ene encodes a protein that belong>gg>s to the nuclear hormone g>receptorg> family. Members of this family act as lig>gg>and-activated transcription factors and function in many biolog>gg>ical processes such as development, cellular differentiation and homeostasis. The activated g>receptorg>/lig>gg>and complex is translocated to the nucleus where it binds to hormone response elements of targ>gg>et g>gg>enes. The protein encoded by this g>gg>ene plays a role in protecting>gg> cells from oxidative stress and damag>gg>e induced by ionizing>gg> radiation. The lack of a similar g>gg>ene in mouse results in g>gg>rowth retardation, severe spinal curvature, subfertility, premature ag>gg>ing>gg>, and prostatic intraepithelial neoplasia (PIN) development. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Apr 2014]

NR2C1 Gene

nuclear g>receptorg> subfamily 2, g>gg>roup C, member 1

This g>gg>ene encodes a nuclear hormone g>receptorg> characterized by a hig>gg>hly conserved DNA binding>gg> domain (DBD), a variable hing>gg>e reg>gg>ion, and a carboxy-terminal lig>gg>and binding>gg> domain (LBD) that is typical for all members of the steroid/thyroid hormone g>receptorg> superfamily. This protein also belong>gg>s to a larg>gg>e family of lig>gg>and-inducible transcription factors that reg>gg>ulate g>gg>ene expression by binding>gg> to specific DNA sequences within promoters of targ>gg>et g>gg>enes. Multiple alternatively spliced transcript variants have been described, but the full-leng>gg>th nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

OR52W1 Gene

olfactory g>receptorg>, family 52, subfamily W, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5M4P Gene

olfactory g>receptorg>, family 5, subfamily M, member 4 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

g>Gg>OSR2 Gene

g>gg>olg>gg>i SNAP g>receptorg> complex member 2

This g>gg>ene encodes a trafficking>gg> membrane protein which transports proteins among>gg> the medial- and trans-g>Gg>olg>gg>i compartments. Due to its chromosomal location and trafficking>gg> function, this g>gg>ene may be involved in familial essential hypertension. [provided by RefSeq, Mar 2016]

FCRL5 Gene

Fc g>receptorg>-like 5

This g>gg>ene encodes a member of the immunog>gg>lobulin g>receptorg> superfamily and the Fc-g>receptorg> like family. This g>gg>ene and several other Fc g>receptorg>-like g>gg>ene members are clustered on the long>gg> arm of chromosome 1. The encoded protein is a sing>gg>le-pass type I membrane protein and contains 8 immunog>gg>lobulin-like C2-type domains. This g>gg>ene is implicated in B cell development and lymphomag>gg>enesis. Alternatively spliced transcript variants encoding>gg> different isoforms have been identified. [provided by RefSeq, Sep 2010]

OR4S1 Gene

olfactory g>receptorg>, family 4, subfamily S, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4S2 Gene

olfactory g>receptorg>, family 4, subfamily S, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRAV26-1 Gene

T cell g>receptorg> alpha variable 26-1

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAV26-2 Gene

T cell g>receptorg> alpha variable 26-2

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

OR8B10P Gene

olfactory g>receptorg>, family 8, subfamily B, member 10 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TAS2R8 Gene

taste g>receptorg>, type 2, member 8

This g>gg>ene product belong>gg>s to the family of candidate taste g>receptorg>s that are members of the g>Gg>-g>protein-coupledg> g>receptorg> superfamily. These proteins are specifically expressed in the taste g>receptorg> cells of the tong>gg>ue and palate epithelia. They are org>gg>anized in the g>gg>enome in clusters and are g>gg>enetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This g>gg>ene maps to the taste g>receptorg> g>gg>ene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]

VN1R27P Gene

vomeronasal 1 g>receptorg> 27 pseudog>gg>ene

OR2B4P Gene

olfactory g>receptorg>, family 2, subfamily B, member 4 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TAS2R1 Gene

taste g>receptorg>, type 2, member 1

This g>gg>ene encodes a member of a family of candidate taste g>receptorg>s that are members of the g>Gg> g>protein-coupledg> g>receptorg> superfamily and that are specifically expressed by taste g>receptorg> cells of the tong>gg>ue and palate epithelia. This intronless taste g>receptorg> g>gg>ene encodes a 7-transmembrane g>receptorg> protein, functioning>gg> as a bitter taste g>receptorg>. This g>gg>ene is mapped to chromosome 5p15, the location of a g>gg>enetic locus (PROP) that controls the detection of the bitter compound 6-n-propyl-2-thiouracil. [provided by RefSeq, Jul 2008]

TRBV22-1 Gene

T cell g>receptorg> beta variable 22-1 (pseudog>gg>ene)

VN1R109P Gene

vomeronasal 1 g>receptorg> 109 pseudog>gg>ene

OR52A4P Gene

olfactory g>receptorg>, family 52, subfamily A, member 4, pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. Althoug>gg>h orig>gg>inally considered to be a functional olfactory g>receptorg>, this family member is now considered to be pseudog>gg>ene due to the presence of a C-terminal frameshift compared to other family members; this is also consistent with the Classifier for Olfactory g>Receptorg> Pseudog>gg>enes (CORP), as described in PMID:16939646. [provided by RefSeq, Jun 2011]

SSTR3 Gene

somatostatin g>receptorg> 3

This g>gg>ene encodes a member of the somatostatin g>receptorg> protein family. Somatostatins are peptide hormones that reg>gg>ulate diverse cellular functions such as neurotransmission, cell proliferation, and endocrine sig>gg>naling>gg> as well as inhibiting>gg> the release of many hormones and other secretory proteins. Somatostatin has two active forms of 14 and 28 amino acids. The biolog>gg>ical effects of somatostatins are mediated by a family of g>Gg>-protein coupled somatostatin g>receptorg>s that are expressed in a tissue-specific manner. Somatostatin g>receptorg>s form homodimers and heterodimers with other members of the superfamily as well as with other g>Gg>-protein coupled g>receptorg>s and g>receptorg> tyrosine kinases. This protein is functionally coupled to adenylyl cyclase. Alternate splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2013]

SSTR2 Gene

somatostatin g>receptorg> 2

Somatostatin acts at many sites to inhibit the release of many hormones and other secretory proteins. The biolog>gg>ic effects of somatostatin are probably mediated by a family of g>Gg> g>protein-coupledg> g>receptorg>s that are expressed in a tissue-specific manner. SSTR2 is a member of the superfamily of g>receptorg>s having>gg> seven transmembrane seg>gg>ments and is expressed in hig>gg>hest levels in cerebrum and kidney. [provided by RefSeq, Jul 2008]

SSTR5 Gene

somatostatin g>receptorg> 5

Somatostatin and its related peptide cortistatin exert multiple biolog>gg>ical actions on normal and tumoral tissue targ>gg>ets by interacting>gg> with somatostatin g>receptorg>s (SSTRs). The protein encoded by this g>gg>ene is one of the SSTRs, which is a multi-pass membrane protein and belong>gg>s to the g>Gg>-protein coupled g>receptorg> 1 family. The activity of this g>receptorg> is mediated by g>Gg> proteins which inhibit adenylyl cyclase, and different reg>gg>ions of this g>receptorg> molecule are required for the activation of different sig>gg>naling>gg> pathways. A mutation in this g>gg>ene results in somatostatin analog>gg> resistance. Alternatively spliced transcript variants have been identified in this g>gg>ene.[provided by RefSeq, Feb 2010]

SSTR4 Gene

somatostatin g>receptorg> 4

Somatostatin acts at many sites to inhibit the release of many hormones and other secretory proteins. The biolog>gg>ic effects of somatostatin are probably mediated by a family of g>Gg> g>protein-coupledg> g>receptorg>s that are expressed in a tissue-specific manner. SSTR4 is a member of the superfamily of g>receptorg>s having>gg> seven transmembrane seg>gg>ments and is expressed in hig>gg>hest levels in fetal and adult brain and lung>gg>. [provided by RefSeq, Jul 2008]

OR6C69P Gene

olfactory g>receptorg>, family 6, subfamily C, member 69 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5BC1P Gene

olfactory g>receptorg>, family 5, subfamily BC, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LBR Gene

lamin B g>receptorg>

The protein encoded by this g>gg>ene belong>gg>s to the ERg>Gg>4/ERg>Gg>24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of this g>gg>ene has been associated with autosomal recessive HEM/g>Gg>reenberg>gg> skeletal dysplasia. Alternative splicing>gg> occurs at this locus and two transcript variants encoding>gg> the same protein have been identified. [provided by RefSeq, Jul 2008]

TRAV9-1 Gene

T cell g>receptorg> alpha variable 9-1

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAV9-2 Gene

T cell g>receptorg> alpha variable 9-2

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

g>Gg>ABRA5 Gene

g>gg>amma-aminobutyric acid (g>Gg>ABA) A g>receptorg>, alpha 5

g>Gg>ABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at g>Gg>ABA-A g>receptorg>s, which are lig>gg>and-g>gg>ated chloride channels. Chloride conductance of these channels can be modulated by ag>gg>ents such as benzodiazepines that bind to the g>Gg>ABA-A g>receptorg>. At least 16 distinct subunits of g>Gg>ABA-A g>receptorg>s have been identified. Transcript variants utilizing>gg> three different alternative non-coding>gg> first exons have been described. [provided by RefSeq, Jul 2008]

g>Gg>ABRA4 Gene

g>gg>amma-aminobutyric acid (g>Gg>ABA) A g>receptorg>, alpha 4

g>Gg>amma-aminobutyric acid (g>Gg>ABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at g>Gg>ABA-A g>receptorg>s, which are lig>gg>and-g>gg>ated chloride channels. Chloride conductance of these channels can be modulated by ag>gg>ents such as benzodiazepines that bind to the g>Gg>ABA-A g>receptorg>. At least 16 distinct subunits of g>Gg>ABA-A g>receptorg>s have been identified. This g>gg>ene encodes subunit alpha-4, which is involved in the etiolog>gg>y of autism and eventually increases autism risk throug>gg>h interaction with another subunit, g>gg>amma-aminobutyric acid g>receptorg> beta-1 (g>Gg>ABRB1). Alternatively spliced transcript variants encoding>gg> different isoforms have been found in this g>gg>ene.[provided by RefSeq, Feb 2011]

g>Gg>ABRA6 Gene

g>gg>amma-aminobutyric acid (g>Gg>ABA) A g>receptorg>, alpha 6

g>Gg>ABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at g>Gg>ABA-A g>receptorg>s, which are lig>gg>and-g>gg>ated chloride channels. Chloride conductance of these channels can be modulated by ag>gg>ents such as benzodiazepines that bind to the g>Gg>ABA-A g>receptorg>. At least 16 distinct subunits of g>Gg>ABA-A g>receptorg>s have been identified. [provided by RefSeq, Jul 2008]

g>Gg>ABRA1 Gene

g>gg>amma-aminobutyric acid (g>Gg>ABA) A g>receptorg>, alpha 1

This g>gg>ene encodes a g>gg>amma-aminobutyric acid (g>Gg>ABA) g>receptorg>. g>Gg>ABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at g>Gg>ABA-A g>receptorg>s, which are lig>gg>and-g>gg>ated chloride channels. Chloride conductance of these channels can be modulated by ag>gg>ents such as benzodiazepines that bind to the g>Gg>ABA-A g>receptorg>. g>Gg>ABA-A g>receptorg>s are pentameric, consisting>gg> of proteins from several subunit classes: alpha, beta, g>gg>amma, delta and rho. Mutations in this g>gg>ene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding>gg> the same protein have been identified for this g>gg>ene. [provided by RefSeq, Jul 2008]

g>Gg>ABRA3 Gene

g>gg>amma-aminobutyric acid (g>Gg>ABA) A g>receptorg>, alpha 3

g>Gg>ABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at g>Gg>ABA-A g>receptorg>s, which are lig>gg>and-g>gg>ated chloride channels. Chloride conductance of these channels can be modulated by ag>gg>ents such as benzodiazepines that bind to the g>Gg>ABA-A g>receptorg>. At least 16 distinct subunits of g>Gg>ABA-A g>receptorg>s have been identified. [provided by RefSeq, Jul 2008]

g>Gg>ABRA2 Gene

g>gg>amma-aminobutyric acid (g>Gg>ABA) A g>receptorg>, alpha 2

g>Gg>ABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at g>Gg>ABA-A g>receptorg>s, which are lig>gg>and-g>gg>ated chloride channels. Chloride conductance of these channels can be modulated by ag>gg>ents such as benzodiazepines that bind to the g>Gg>ABA-A g>receptorg>. At least 16 distinct subunits of g>Gg>ABA-A g>receptorg>s have been identified. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Nov 2013]

g>Gg>RIA2 Gene

g>gg>lutamate g>receptorg>, ionotropic, AMPA 2

g>Gg>lutamate g>receptorg>s are the predominant excitatory neurotransmitter g>receptorg>s in the mammalian brain and are activated in a variety of normal neurophysiolog>gg>ic processes. This g>gg>ene product belong>gg>s to a family of g>gg>lutamate g>receptorg>s that are sensitive to alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA), and function as lig>gg>and-activated cation channels. These channels are assembled from 4 related subunits, g>Gg>RIA1-4. The subunit encoded by this g>gg>ene (g>Gg>RIA2) is subject to RNA editing>gg> (CAg>Gg>->Cg>Gg>g>Gg>; Q->R) within the second transmembrane domain, which is thoug>gg>ht to render the channel impermeable to Ca(2+). Human and animal studies sug>gg>g>gg>est that pre-mRNA editing>gg> is essential for brain function, and defective g>Gg>RIA2 RNA editing>gg> at the Q/R site may be relevant to amyotrophic lateral sclerosis (ALS) etiolog>gg>y. Alternative splicing>gg>, resulting>gg> in transcript variants encoding>gg> different isoforms, (including>gg> the flip and flop isoforms that vary in their sig>gg>nal transduction properties), has been noted for this g>gg>ene. [provided by RefSeq, Jul 2008]

g>Gg>RIA1 Gene

g>gg>lutamate g>receptorg>, ionotropic, AMPA 1

g>Gg>lutamate g>receptorg>s are the predominant excitatory neurotransmitter g>receptorg>s in the mammalian brain and are activated in a variety of normal neurophysiolog>gg>ic processes. These g>receptorg>s are heteromeric protein complexes with multiple subunits, each possessing>gg> transmembrane reg>gg>ions, and all arrang>gg>ed to form a lig>gg>and-g>gg>ated ion channel. The classification of g>gg>lutamate g>receptorg>s is based on their activation by different pharmacolog>gg>ic ag>gg>onists. This g>gg>ene belong>gg>s to a family of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) g>receptorg>s. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

NPY5R Gene

neuropeptide Y g>receptorg> Y5

The protein encoded by this g>gg>ene is a g>receptorg> for neuropeptide Y and peptide YY. The encoded protein appears to be involved in reg>gg>ulating>gg> food intake, with defects in this g>gg>ene being>gg> associated with eating>gg> disorders. Also, the encoded protein is involved in a pathway that protects neuroblastoma cells from chemotherapy-induced cell death, providing>gg> a possible therapeutic targ>gg>et ag>gg>ainst neuroblastoma. Three transcript variants encoding>gg> the same protein have been found for this g>gg>ene. [provided by RefSeq, Nov 2015]

OPRL1 Gene

opiate g>receptorg>-like 1

The protein encoded by this g>gg>ene is a member of the 7 transmembrane-spanning>gg> g>Gg> g>protein-coupledg> g>receptorg> family, and functions as a g>receptorg> for the endog>gg>enous, opioid-related neuropeptide, nociceptin/orphanin FQ. This g>receptorg>-lig>gg>and system modulates a variety of biolog>gg>ical functions and neurobehavior, including>gg> stress responses and anxiety behavior, learning>gg> and memory, locomotor activity, and inflammatory and immune responses. A promoter reg>gg>ion between this g>gg>ene and the 5'-adjacent Rg>Gg>S19 (reg>gg>ulator of g>Gg>-protein sig>gg>naling>gg> 19) g>gg>ene on the opposite strand functions bi-directionally as a core-promoter for both g>gg>enes, sug>gg>g>gg>esting>gg> co-operative transcriptional reg>gg>ulation of these two functionally related g>gg>enes. Alternatively spliced transcript variants have been described for this g>gg>ene. A recent study provided evidence for translational readthroug>gg>h in this g>gg>ene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]

MUSK Gene

muscle, skeletal, g>receptorg> tyrosine kinase

This g>gg>ene encodes a muscle-specific tyrosine kinase g>receptorg>. The encoded protein may play a role in clustering>gg> of the acetylcholine g>receptorg> in the postsynaptic neuromuscular junction. Mutations in this g>gg>ene have been associated with cong>gg>enital myasthenic syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]

LOC100422434 Gene

complement component (3b/4b) g>receptorg> 1 (Knops blood g>gg>roup) pseudog>gg>ene

LOC100421874 Gene

olfactory g>receptorg>, family 5, subfamily H, member 2 pseudog>gg>ene

NSMF Gene

NMDA g>receptorg> synaptonuclear sig>gg>naling>gg> and neuronal mig>gg>ration factor

The protein encoded by this g>gg>ene is involved in g>gg>uidance of olfactory axon projections and mig>gg>ration of luteinizing>gg> hormone-releasing>gg> hormone neurons. Defects in this g>gg>ene are a cause of idiopathic hypog>gg>onadotropic hypog>gg>onadism (IHH). Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, May 2010]

OR7E26P Gene

olfactory g>receptorg>, family 7, subfamily E, member 26 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR6Q1 Gene

olfactory g>receptorg>, family 6, subfamily Q, member 1 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]

OR4X7P Gene

olfactory g>receptorg>, family 4, subfamily X, member 7 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R111P Gene

vomeronasal 1 g>receptorg> 111 pseudog>gg>ene

LOC728333 Gene

nuclear g>receptorg> coactivator 4 pseudog>gg>ene

OR4A21P Gene

olfactory g>receptorg>, family 4, subfamily A, member 21 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R75P Gene

vomeronasal 1 g>receptorg> 75 pseudog>gg>ene

FOLR2 Gene

folate g>receptorg> 2 (fetal)

The protein encoded by this g>gg>ene is a member of the folate g>receptorg> (FOLR) family, and these g>gg>enes exist in a cluster on chromosome 11. Members of this g>gg>ene family have a hig>gg>h affinity for folic acid and for several reduced folic acid derivatives, and they mediate delivery of 5-methyltetrahydrofolate to the interior of cells. This protein has a 68% and 79% sequence homolog>gg>y with the FOLR1 and FOLR3 proteins, respectively. Althoug>gg>h this protein was orig>gg>inally thoug>gg>ht to be specific to placenta, it can also exist in other tissues, and it may play a role in the transport of methotrexate in synovial macrophag>gg>es in rheumatoid arthritis patients. Multiple transcript variants that encode the same protein have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

FOLR3 Gene

folate g>receptorg> 3 (g>gg>amma)

This g>gg>ene encodes a member of the folate g>receptorg> (FOLR) family of proteins, which have a hig>gg>h affinity for folic acid and for several reduced folic acid derivatives, and mediate delivery of 5-methyltetrahydrofolate to the interior of cells. Expression of this g>gg>ene may be elevated in ovarian and primary peritoneal carcinoma. This g>gg>ene is present in a g>gg>ene cluster on chromosome 11. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Dec 2015]

TAS2R67P Gene

taste g>receptorg>, type 2, member 67 pseudog>gg>ene

LILRB5 Gene

leukocyte immunog>gg>lobulin-like g>receptorg>, subfamily B (with TM and ITIM domains), member 5

This g>gg>ene is a member of the leukocyte immunog>gg>lobulin-like g>receptorg> (LIR) family, which is found in a g>gg>ene cluster at chromosomal reg>gg>ion 19q13.4. The encoded protein belong>gg>s to the subfamily B class of LIR g>receptorg>s which contain two or four extracellular immunog>gg>lobulin domains, a transmembrane domain, and two to four cytoplasmic immunog>receptorg> tyrosine-based inhibitory motifs (ITIMs). Several other LIR subfamily B g>receptorg>s are expressed on immune cells where they bind to MHC class I molecules on antig>gg>en-presenting>gg> cells and inhibit stimulation of an immune response. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

LILRB4 Gene

leukocyte immunog>gg>lobulin-like g>receptorg>, subfamily B (with TM and ITIM domains), member 4

This g>gg>ene is a member of the leukocyte immunog>gg>lobulin-like g>receptorg> (LIR) family, which is found in a g>gg>ene cluster at chromosomal reg>gg>ion 19q13.4. The encoded protein belong>gg>s to the subfamily B class of LIR g>receptorg>s which contain two or four extracellular immunog>gg>lobulin domains, a transmembrane domain, and two to four cytoplasmic immunog>receptorg> tyrosine-based inhibitory motifs (ITIMs). The g>receptorg> is expressed on immune cells where it binds to MHC class I molecules on antig>gg>en-presenting>gg> cells and transduces a neg>gg>ative sig>gg>nal that inhibits stimulation of an immune response. The g>receptorg> can also function in antig>gg>en capture and presentation. It is thoug>gg>ht to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

LILRB3 Gene

leukocyte immunog>gg>lobulin-like g>receptorg>, subfamily B (with TM and ITIM domains), member 3

This g>gg>ene is a member of the leukocyte immunog>gg>lobulin-like g>receptorg> (LIR) family, which is found in a g>gg>ene cluster at chromosomal reg>gg>ion 19q13.4. The encoded protein belong>gg>s to the subfamily B class of LIR g>receptorg>s which contain two or four extracellular immunog>gg>lobulin domains, a transmembrane domain, and two to four cytoplasmic immunog>receptorg> tyrosine-based inhibitory motifs (ITIMs). The g>receptorg> is expressed on immune cells where it binds to MHC class I molecules on antig>gg>en-presenting>gg> cells and transduces a neg>gg>ative sig>gg>nal that inhibits stimulation of an immune response. It is thoug>gg>ht to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

LILRB2 Gene

leukocyte immunog>gg>lobulin-like g>receptorg>, subfamily B (with TM and ITIM domains), member 2

This g>gg>ene is a member of the leukocyte immunog>gg>lobulin-like g>receptorg> (LIR) family, which is found in a g>gg>ene cluster at chromosomal reg>gg>ion 19q13.4. The encoded protein belong>gg>s to the subfamily B class of LIR g>receptorg>s which contain two or four extracellular immunog>gg>lobulin domains, a transmembrane domain, and two to four cytoplasmic immunog>receptorg> tyrosine-based inhibitory motifs (ITIMs). The g>receptorg> is expressed on immune cells where it binds to MHC class I molecules on antig>gg>en-presenting>gg> cells and transduces a neg>gg>ative sig>gg>nal that inhibits stimulation of an immune response. It is thoug>gg>ht to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

LILRB1 Gene

leukocyte immunog>gg>lobulin-like g>receptorg>, subfamily B (with TM and ITIM domains), member 1

This g>gg>ene is a member of the leukocyte immunog>gg>lobulin-like g>receptorg> (LIR) family, which is found in a g>gg>ene cluster at chromosomal reg>gg>ion 19q13.4. The encoded protein belong>gg>s to the subfamily B class of LIR g>receptorg>s which contain two or four extracellular immunog>gg>lobulin domains, a transmembrane domain, and two to four cytoplasmic immunog>receptorg> tyrosine-based inhibitory motifs (ITIMs). The g>receptorg> is expressed on immune cells where it binds to MHC class I molecules on antig>gg>en-presenting>gg> cells and transduces a neg>gg>ative sig>gg>nal that inhibits stimulation of an immune response. It is thoug>gg>ht to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

OR6C71P Gene

olfactory g>receptorg>, family 6, subfamily C, member 71 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5BR1P Gene

olfactory g>receptorg>, family 5, subfamily BR, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LCORL Gene

lig>gg>and dependent nuclear g>receptorg> corepressor-like

This g>gg>ene encodes a transcription factor that appears to function in spermatog>gg>enesis. Polymorphisms in this g>gg>ene are associated with measures of skeletal frame size and adult heig>gg>ht. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Oct 2009]

KTN1 Gene

kinectin 1 (kinesin g>receptorg>)

This g>gg>ene encodes an integ>gg>ral membrane protein that is a member of the kinectin protein family. The encoded protein is primarily localized to the endoplasmic reticulum membrane. This protein binds kinesin and may be involved in intracellular org>gg>anelle motility. This protein also binds translation elong>gg>ation factor-delta and may be involved in the assembly of the elong>gg>ation factor-1 complex. Alternate splicing>gg> results in multiple transcript variants of this g>gg>ene. [provided by RefSeq, Aug>gg> 2012]

NPSR1 Gene

neuropeptide S g>receptorg> 1

This g>gg>ene encodes a member of the vasopressin/oxytocin subfamily of g>Gg> g>protein-coupledg> g>receptorg>s. The encoded membrane protein acts as a g>receptorg> for neuropeptide S and affects a variety of cellular processes throug>gg>h its sig>gg>naling>gg>. Increased expression of this g>gg>ene in ciliated cells of the respiratory epithelium and in bronchial smooth muscle cells is associated with asthma. Polymorphisms in this g>gg>ene have also been associated with asthma susceptibility, panic disorders, inflammatory bowel disease, and rheumatoid arthritis. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2014]

OR51A3P Gene

olfactory g>receptorg>, family 51, subfamily A, member 3 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LYVE1 Gene

lymphatic vessel endothelial hyaluronan g>receptorg> 1

This g>gg>ene encodes a type I integ>gg>ral membrane g>gg>lycoprotein. The encoded protein acts as a g>receptorg> and binds to both soluble and immobilized hyaluronan. This protein may function in lymphatic hyaluronan transport and have a role in tumor metastasis. [provided by RefSeq, Jul 2008]

DDR2 Gene

discoidin domain g>receptorg> tyrosine kinase 2

This g>gg>ene encodes a member of the discoidin domain g>receptorg> subclass of the g>receptorg> tyrosine kinase (RTKs) protein family. RTKs play a key role in the communication of cells with their microenvironment. The encoded protein is a collag>gg>en-induced g>receptorg> that activates sig>gg>nal transduction pathways involved in cell adhesion, proliferation, and extracellular matrix remodeling>gg>. This protein is expressed in numerous cell types and may alos be involved in wound repair and reg>gg>ulate tumor g>gg>rowth and invasiveness. Mutations in this g>gg>ene are the cause of short limb-hand type spondylometaepiphyseal dysplasia. [provided by RefSeq, Aug>gg> 2017]

DDR1 Gene

discoidin domain g>receptorg> tyrosine kinase 1

g>Receptorg> tyrosine kinases play a key role in the communication of cells with their microenvironment. These kinases are involved in the reg>gg>ulation of cell g>gg>rowth, differentiation and metabolism. The protein encoded by this g>gg>ene belong>gg>s to a subfamily of tyrosine kinase g>receptorg>s with homolog>gg>y to Dictyostelium discoideum protein discoidin I in their extracellular domain, and that are activated by various types of collag>gg>en. Expression of this protein is restricted to epithelial cells, particularly in the kidney, lung>gg>, g>gg>astrointestinal tract, and brain. In addition, it has been shown to be sig>gg>nificantly overexpressed in several human tumors. Alternatively spliced transcript variants encoding>gg> different isoforms have been described for this g>gg>ene. [provided by RefSeq, Feb 2011]

LOC105369274 Gene

olfactory g>receptorg> 4N4

Predicted to enable olfactory g>receptorg> activity. Predicted to be involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway and detection of chemical stimulus involved in sensory perception of smell. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100421978 Gene

olfactory g>receptorg>, family 6, subfamily M, member 1 pseudog>gg>ene

LOC100421971 Gene

olfactory g>receptorg>, family 5, subfamily B, member 3 pseudog>gg>ene

LOC100421977 Gene

olfactory g>receptorg>, family 6, subfamily M, member 1 pseudog>gg>ene

OR6M1 Gene

olfactory g>receptorg>, family 6, subfamily M, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100418680 Gene

olfactory g>receptorg>, family 2, subfamily B, member 2 pseudog>gg>ene

NRBF2 Gene

nuclear g>receptorg> binding>gg> factor 2

Involved in autophag>gg>y. Located in cytoplasm and phosphatidylinositol 3-kinase complex, class III. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR8K2P Gene

olfactory g>receptorg>, family 8, subfamily K, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2J2 Gene

olfactory g>receptorg>, family 2, subfamily J, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2J3 Gene

olfactory g>receptorg>, family 2, subfamily J, member 3

This g>gg>ene encodes a g>Gg>-g>protein-coupledg> g>receptorg> (g>Gg>PCR) that functions as an olfactory g>receptorg>. Olfactory g>receptorg>s interact with odorant molecules in the nose to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The protein encoded by this g>gg>ene responds to cis-3-hexen-1-ol, which is released by wounded plants, including>gg> cut g>gg>rass. This g>gg>ene is situated in a cluster of similar olfactory-g>receptorg> coding>gg> g>gg>enes on chromosome 6. [provided by RefSeq, May 2013]

TRBV11-2 Gene

T cell g>receptorg> beta variable 11-2

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105379662 Gene

killer cell immunog>gg>lobulin-like g>receptorg> 2DS1

IL17RE Gene

interleukin 17 g>receptorg> E

This g>gg>ene encodes a transmembrane protein that functions as the g>receptorg> for interleukin-17C. The encoded protein sig>gg>nals to downstream components of the mitog>gg>en activated protein kinase (MAPK) pathway. Activity of this protein is important in the immune response to bacterial pathog>gg>ens. Alternatively spliced transcript variants have been described for this g>gg>ene. [provided by RefSeq, Sep 2013]

IL17RD Gene

interleukin 17 g>receptorg> D

This g>gg>ene encodes a membrane protein belong>gg>ing>gg> to the interleukin-17 g>receptorg> (IL-17R) protein family. The encoded protein is a component of the interleukin-17 g>receptorg> sig>gg>naling>gg> complex, and the interaction between this protein and IL-17R does not require the interleukin. The g>gg>ene product also affects fibroblast g>gg>rowth factor sig>gg>naling>gg>, inhibiting>gg> or stimulating>gg> g>gg>rowth throug>gg>h MAPK/ERK sig>gg>naling>gg>. Alternate splicing>gg> g>gg>enerates multiple transcript variants encoding>gg> distinct isoforms. [provided by RefSeq, Jan 2016]

IL17RC Gene

interleukin 17 g>receptorg> C

This g>gg>ene encodes a sing>gg>le-pass type I membrane protein that shares similarity with the interleukin-17 g>receptorg> (IL-17RA). Unlike IL-17RA, which is predominantly expressed in hemopoietic cells, and binds with hig>gg>h affinity to only IL-17A, this protein is expressed in nonhemopoietic tissues, and binds both IL-17A and IL-17F with similar affinities. The proinflammatory cytokines, IL-17A and IL-17F, have been implicated in the prog>gg>ression of inflammatory and autoimmune diseases. Multiple alternatively spliced transcript variants encoding>gg> different isoforms have been detected for this g>gg>ene, and it has been proposed that soluble, secreted proteins lacking>gg> transmembrane and intracellular domains may function as extracellular antag>gg>onists to cytokine sig>gg>naling>gg>. [provided by RefSeq, Feb 2011]

IL17RA Gene

interleukin 17 g>receptorg> A

Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this g>gg>ene (interleukin 17A g>receptorg>; IL17RA) is a ubiquitous type I membrane g>gg>lycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its g>receptorg> play a pathog>gg>enic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine g>receptorg>s, this g>receptorg> likely has a multimeric structure. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Feb 2014]

NCOR2 Gene

nuclear g>receptorg> corepressor 2

This g>gg>ene encodes a nuclear g>receptorg> co-repressor that mediates transcriptional silencing>gg> of certain targ>gg>et g>gg>enes. The encoded protein is a member of a family of thyroid hormone- and retinoic acid g>receptorg>-associated co-repressors. This protein acts as part of a multisubunit complex which includes histone deacetylases to modify chromatin structure that prevents basal transcriptional activity of targ>gg>et g>gg>enes. Aberrant expression of this g>gg>ene is associated with certain cancers. Alternate splicing>gg> results in multiple transcript variants encoding>gg> different isoforms.[provided by RefSeq, Apr 2011]

NCOR1 Gene

nuclear g>receptorg> corepressor 1

This g>gg>ene encodes a protein that mediates lig>gg>and-independent transcription repression of thyroid-hormone and retinoic-acid g>receptorg>s by promoting>gg> chromatin condensation and preventing>gg> access of the transcription machinery. It is part of a complex which also includes histone deacetylases and transcriptional reg>gg>ulators similar to the yeast protein Sin3p. This g>gg>ene is located between the Charcot-Marie-Tooth and Smith-Mag>gg>enis syndrome critical reg>gg>ions on chromosome 17. Alternate splicing>gg> results in multiple transcript variants. Pseudog>gg>enes of this g>gg>ene are found on chromosomes 17 and 20.[provided by RefSeq, Jun 2010]

FFAR4 Gene

free fatty acid g>receptorg> 4

This g>gg>ene encodes a g>Gg> g>protein-coupledg> g>receptorg> (g>Gg>PR) which belong>gg>s to the rhodopsin family of g>Gg>PRs. The encoded protein functions as a g>receptorg> for free fatty acids, including>gg> omeg>gg>a-3, and participates in suppressing>gg> anti-inflammatory responses and insulin sensitizing>gg>. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Feb 2012]

OR4V1P Gene

olfactory g>receptorg>, family 4, subfamily V, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4K5 Gene

olfactory g>receptorg>, family 4, subfamily K, member 5

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4K1 Gene

olfactory g>receptorg>, family 4, subfamily K, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4K3 Gene

olfactory g>receptorg>, family 4, subfamily K, member 3 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]

OR4K2 Gene

olfactory g>receptorg>, family 4, subfamily K, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR1X5P Gene

olfactory g>receptorg>, family 1, subfamily X, member 5 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC728815 Gene

cytokine g>receptorg>-like factor 3 pseudog>gg>ene

OR2Ag>Gg>2 Gene

olfactory g>receptorg>, family 2, subfamily Ag>Gg>, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2Ag>Gg>1 Gene

olfactory g>receptorg>, family 2, subfamily Ag>Gg>, member 1 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]

OR5B15P Gene

olfactory g>receptorg>, family 5, subfamily B, member 15 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR1AA1P Gene

olfactory g>receptorg>, family 1, subfamily AA, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

QRFPR Gene

pyrog>gg>lutamylated RFamide peptide g>receptorg>

Enables g>Gg> g>protein-coupledg> g>receptorg> activity. Involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway. Predicted to be located in non-motile cilium. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR5M12P Gene

olfactory g>receptorg>, family 5, subfamily M, member 12 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R95P Gene

vomeronasal 1 g>receptorg> 95 pseudog>gg>ene

LOC100422056 Gene

olfactory g>receptorg>, family 7, subfamily E, member 24 pseudog>gg>ene

OR7E97P Gene

olfactory g>receptorg>, family 7, subfamily E, member 97 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRBV4-2 Gene

T cell g>receptorg> beta variable 4-2

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV4-3 Gene

T cell g>receptorg> beta variable 4-3

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV4-1 Gene

T cell g>receptorg> beta variable 4-1

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PTAFR Gene

platelet-activating>gg> factor g>receptorg>

This g>gg>ene encodes a seven-transmembrane g>Gg>-g>protein-coupledg> g>receptorg> for platelet-activating>gg> factor (PAF) that localizes to lipid rafts and/or caveolae in the cell membrane. PAF (1-0-alkyl-2-acetyl-sn-g>gg>lycero-3-phosphorylcholine) is a phospholipid that plays a sig>gg>nificant role in oncog>gg>enic transformation, tumor g>gg>rowth, ang>gg>iog>gg>enesis, metastasis, and pro-inflammatory processes. Binding>gg> of PAF to the PAF-g>receptorg> (PAFR) stimulates numerous sig>gg>nal transduction pathways including>gg> phospholipase C, D, A2, mitog>gg>en-activated protein kinases (MAPKs), and the phosphatidylinositol-calcium second messeng>gg>er system. Following>gg> PAFR activation, cells become rapidly desensitized and this refractory state is dependent on PAFR phosphorylation, internalization, and down-reg>gg>ulation. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Aug>gg> 2011]

OR7E35P Gene

olfactory g>receptorg>, family 7, subfamily E, member 35 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2AL1P Gene

olfactory g>receptorg>, family 2, subfamily AL, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OPRD1 Gene

opioid g>receptorg>, delta 1

Enables g>Gg> g>protein-coupledg> enkephalin g>receptorg> activity. Involved in several processes, including>gg> g>Gg> g>protein-coupledg> opioid g>receptorg> sig>gg>naling>gg> pathway; cellular response to hypoxia; and positive reg>gg>ulation of peptidyl-serine phosphorylation. Located in plasma membrane. Implicated in alcohol dependence; alcohol use disorder; drug>gg> dependence (multiple); opioid abuse; and withdrawal disorder. Biomarker of opioid abuse. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

VDR Gene

vitamin D (1,25- dihydroxyvitamin D3) g>receptorg>

This g>gg>ene encodes vitamin D3 g>receptorg>, which is a member of the nuclear hormone g>receptorg> superfamily of lig>gg>and-inducible transcription factors. This g>receptorg> also functions as a g>receptorg> for the secondary bile acid, lithocholic acid. Downstream targ>gg>ets of vitamin D3 g>receptorg> are principally involved in mineral metabolism, thoug>gg>h this g>receptorg> reg>gg>ulates a variety of other metabolic pathways, such as those involved in immune response and cancer. Mutations in this g>gg>ene are associated with type II vitamin D-resistant rickets. A sing>gg>le nucleotide polymorphism in the initiation codon results in an alternate translation start site three codons downstream. Alternatively spliced transcript variants encoding>gg> different isoforms have been described for this g>gg>ene. A recent study provided evidence for translational readthroug>gg>h in this g>gg>ene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jun 2018]

TRAJ61 Gene

T cell g>receptorg> alpha joining>gg> 61 (non-functional)

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ60 Gene

T cell g>receptorg> alpha joining>gg> 60 (pseudog>gg>ene)

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

OR10A3 Gene

olfactory g>receptorg>, family 10, subfamily A, member 3

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10A2 Gene

olfactory g>receptorg>, family 10, subfamily A, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10A5 Gene

olfactory g>receptorg>, family 10, subfamily A, member 5

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10A4 Gene

olfactory g>receptorg>, family 10, subfamily A, member 4

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10A7 Gene

olfactory g>receptorg>, family 10, subfamily A, member 7

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10A6 Gene

olfactory g>receptorg>, family 10, subfamily A, member 6 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]

OR52J1P Gene

olfactory g>receptorg>, family 52, subfamily J, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4g>Gg>1P Gene

olfactory g>receptorg>, family 4, subfamily g>Gg>, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

IL5RA Gene

interleukin 5 g>receptorg>, alpha

The protein encoded by this g>gg>ene is an interleukin 5 specific subunit of a heterodimeric cytokine g>receptorg>. The g>receptorg> is comprised of a lig>gg>and specific alpha subunit and a sig>gg>nal transducing>gg> beta subunit shared by the g>receptorg>s for interleukin 3 (IL3), colony stimulating>gg> factor 2 (CSF2/g>Gg>M-CSF), and interleukin 5 (IL5). The binding>gg> of this protein to IL5 depends on the beta subunit. The beta subunit is activated by the lig>gg>and binding>gg>, and is required for the biolog>gg>ical activities of IL5. This protein has been found to interact with syndecan binding>gg> protein (syntenin), which is required for IL5 mediated activation of the transcription factor SOX4. Several alternatively spliced transcript variants encoding>gg> four distinct isoforms have been reported. [provided by RefSeq, Jul 2011]

TRAV18 Gene

T cell g>receptorg> alpha variable 18

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAV19 Gene

T cell g>receptorg> alpha variable 19

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAV10 Gene

T cell g>receptorg> alpha variable 10

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAV11 Gene

T cell g>receptorg> alpha variable 11 (pseudog>gg>ene)

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAV16 Gene

T cell g>receptorg> alpha variable 16

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAV17 Gene

T cell g>receptorg> alpha variable 17

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAV15 Gene

T cell g>receptorg> alpha variable 15 (pseudog>gg>ene)

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

OR6Y1 Gene

olfactory g>receptorg>, family 6, subfamily Y, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7E156P Gene

olfactory g>receptorg>, family 7, subfamily E, member 156 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LEPR Gene

leptin g>receptorg>

The protein encoded by this g>gg>ene belong>gg>s to the g>gg>p130 family of cytokine g>receptorg>s that are known to stimulate g>gg>ene transcription via activation of cytosolic STAT proteins. This protein is a g>receptorg> for leptin (an adipocyte-specific hormone that reg>gg>ulates body weig>gg>ht), and is involved in the reg>gg>ulation of fat metabolism, as well as in a novel hematopoietic pathway that is required for normal lymphopoiesis. Mutations in this g>gg>ene have been associated with obesity and pituitary dysfunction. Alternatively spliced transcript variants encoding>gg> different isoforms have been described for this g>gg>ene. It is noteworthy that this g>gg>ene and LEPROT g>gg>ene (g>Gg>eneID:54741) share the same promoter and the first 2 exons, however, encode distinct proteins (PMID:9207021).[provided by RefSeq, Nov 2010]

LOC105379595 Gene

olfactory g>receptorg> 11g>Gg>2-like

PEAR1 Gene

platelet endothelial ag>gg>g>gg>reg>gg>ation g>receptorg> 1

PEAR1 is a platelet g>receptorg> that sig>gg>nals upon the formation of platelet-platelet contacts independent of platelet activation and secondary to platelet ag>gg>g>gg>reg>gg>ation (Nanda et al., 2005 [PubMed 15851471]).[supplied by OMIM, Mar 2008]

OR6C65 Gene

olfactory g>receptorg>, family 6, subfamily C, member 65

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

EBAg>Gg>9 Gene

estrog>gg>en g>receptorg> binding>gg> site associated, antig>gg>en, 9

This g>gg>ene was identified as an estrog>gg>en-responsive g>gg>ene. Reg>gg>ulation of transcription by estrog>gg>en is mediated by estrog>gg>en g>receptorg>, which binds to the estrog>gg>en-responsive element found in the 5'-flanking>gg> reg>gg>ion of this g>gg>ene. The encoded protein is a tumor-associated antig>gg>en that is expressed at hig>gg>h frequency in a variety of cancers. Alternate splicing>gg> results in multiple transcript variants. A pseudog>gg>ene of this g>gg>ene has been defined on chromosome 10. [provided by RefSeq, Jul 2013]

VN1R42P Gene

vomeronasal 1 g>receptorg> 42 pseudog>gg>ene

SCARB2 Gene

scaveng>gg>er g>receptorg> class B, member 2

The protein encoded by this g>gg>ene is a type III g>gg>lycoprotein that is located primarily in limiting>gg> membranes of lysosomes and endosomes. Earlier studies in mice and rat sug>gg>g>gg>ested that this protein may participate in membrane transportation and the reorg>gg>anization of endosomal/lysosomal compartment. The protein deficiency in mice was reported to impair cell membrane transport processes and cause pelvic junction obstruction, deafness, and peripheral neuropathy. Further studies in human showed that this protein is a ubiquitously expressed protein and that it is involved in the pathog>gg>enesis of HFMD (hand, foot, and mouth disease) caused by enterovirus-71 and possibly by coxsackievirus A16. Mutations in this g>gg>ene caused an autosomal recessive prog>gg>ressive myoclonic epilepsy-4 (EPM4), also known as action myoclonus-renal failure syndrome (AMRF). Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene.[provided by RefSeq, Feb 2011]

SCARB1 Gene

scaveng>gg>er g>receptorg> class B, member 1

The protein encoded by this g>gg>ene is a plasma membrane g>receptorg> for hig>gg>h density lipoprotein cholesterol (HDL). The encoded protein mediates cholesterol transfer to and from HDL. In addition, this protein is a g>receptorg> for hepatitis C virus g>gg>lycoprotein E2 and facilitates cell entry by the virus, SARS-CoV2. [provided by RefSeq, Oct 2021]

OR1H1P Gene

olfactory g>receptorg>, family 1, subfamily H, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRPC2 Gene

transient g>receptorg> potential cation channel, subfamily C, member 2, pseudog>gg>ene

Predicted to enable diacylg>gg>lycerol binding>gg> activity; inositol 1,4,5 trisphosphate binding>gg> activity; and store-operated calcium channel activity. Predicted to act upstream of or within several processes, including>gg> female courtship behavior; inter-male ag>gg>g>gg>ressive behavior; and mating>gg> behavior, sex discrimination. Predicted to be located in dendrite membrane and endomembrane system. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRPC3 Gene

transient g>receptorg> potential cation channel, subfamily C, member 3

The protein encoded by this g>gg>ene is a membrane protein that can form a non-selective channel permeable to calcium and other cations. The encoded protein appears to be induced to form channels by a g>receptorg> tyrosine kinase-activated phosphatidylinositol second messeng>gg>er system and also by depletion of intracellular calcium stores. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Oct 2011]

TRPC6 Gene

transient g>receptorg> potential cation channel, subfamily C, member 6

The protein encoded by this g>gg>ene forms a g>receptorg>-activated calcium channel in the cell membrane. The channel is activated by diacylg>gg>lycerol and is thoug>gg>ht to be under the control of a phosphatidylinositol second messeng>gg>er system. Activation of this channel occurs independently of protein kinase C and is not trig>gg>g>gg>ered by low levels of intracellular calcium. Defects in this g>gg>ene are a cause of focal seg>gg>mental g>gg>lomerulosclerosis 2 (FSg>Gg>S2). [provided by RefSeq, Mar 2009]

TRPC4 Gene

transient g>receptorg> potential cation channel, subfamily C, member 4

This g>gg>ene encodes a member of the canonical subfamily of transient g>receptorg> potential cation channels. The encoded protein forms a non-selective calcium-permeable cation channel that is activated by g>Gg>q-coupled g>receptorg>s and tyrosine kinases, and plays a role in multiple processes including>gg> endothelial permeability, vasodilation, neurotransmitter release and cell proliferation. Sing>gg>le nucleotide polymorphisms in this g>gg>ene may be associated with g>gg>eneralized epilepsy with photosensitivity. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Aug>gg> 2011]

OR2T29 Gene

olfactory g>receptorg>, family 2, subfamily T, member 29

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2T27 Gene

olfactory g>receptorg>, family 2, subfamily T, member 27

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRAF6P1 Gene

TNF g>receptorg>-associated factor 6 pseudog>gg>ene 1

OR7E83P Gene

olfactory g>receptorg>, family 7, subfamily E, member 83 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRAV8-1 Gene

T cell g>receptorg> alpha variable 8-1

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAV8-3 Gene

T cell g>receptorg> alpha variable 8-3

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAV8-2 Gene

T cell g>receptorg> alpha variable 8-2

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAV8-5 Gene

T cell g>receptorg> alpha variable 8-5 (pseudog>gg>ene)

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAV8-4 Gene

T cell g>receptorg> alpha variable 8-4

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAV8-7 Gene

T cell g>receptorg> alpha variable 8-7 (non-functional)

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAV8-6 Gene

T cell g>receptorg> alpha variable 8-6

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRBV5-7 Gene

T cell g>receptorg> beta variable 5-7 (non-functional)

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV5-6 Gene

T cell g>receptorg> beta variable 5-6

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV5-5 Gene

T cell g>receptorg> beta variable 5-5

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV5-4 Gene

T cell g>receptorg> beta variable 5-4

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV5-3 Gene

T cell g>receptorg> beta variable 5-3 (non-functional)

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV5-2 Gene

T cell g>receptorg> beta variable 5-2 (pseudog>gg>ene)

TRBV5-1 Gene

T cell g>receptorg> beta variable 5-1

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV5-8 Gene

T cell g>receptorg> beta variable 5-8

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRAC Gene

T cell g>receptorg> alpha constant

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

SSR1P2 Gene

sig>gg>nal sequence g>receptorg>, alpha pseudog>gg>ene 2

LOC100422037 Gene

olfactory g>receptorg>, family 7, subfamily E, member 24 pseudog>gg>ene

LOC105372478 Gene

taste g>receptorg> type 1 member 2-like

OR8I2 Gene

olfactory g>receptorg>, family 8, subfamily I, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2B2 Gene

olfactory g>receptorg>, family 2, subfamily B, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2B3 Gene

olfactory g>receptorg>, family 2, subfamily B, member 3

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2B6 Gene

olfactory g>receptorg>, family 2, subfamily B, member 6

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

IFNAR2 Gene

interferon (alpha, beta and omeg>gg>a) g>receptorg> 2

The protein encoded by this g>gg>ene is a type I membrane protein that forms one of the two chains of a g>receptorg> for interferons alpha and beta. Binding>gg> and activation of the g>receptorg> stimulates Janus protein kinases, which in turn phosphorylate several proteins, including>gg> STAT1 and STAT2. The protein belong>gg>s to the type II cytokine g>receptorg> family. Mutations in this g>gg>ene are associated with Immunodeficiency 45. [provided by RefSeq, Jul 2020]

IFNAR1 Gene

interferon (alpha, beta and omeg>gg>a) g>receptorg> 1

The protein encoded by this g>gg>ene is a type I membrane protein that forms one of the two chains of a g>receptorg> for interferons alpha and beta. Binding>gg> and activation of the g>receptorg> stimulates Janus protein kinases, which in turn phosphorylate several proteins, including>gg> STAT1 and STAT2. The protein belong>gg>s to the type II cytokine g>receptorg> family and functions as an antiviral factor. [provided by RefSeq, Jul 2020]

LOC100422041 Gene

olfactory g>receptorg>, family 5, subfamily AC, member 2 pseudog>gg>ene

LOC100422040 Gene

olfactory g>receptorg>, family 7, subfamily E, member 24 pseudog>gg>ene

IRAK2 Gene

interleukin-1 g>receptorg>-associated kinase 2

IRAK2 encodes the interleukin-1 g>receptorg>-associated kinase 2, one of two putative serine/threonine kinases that become associated with the interleukin-1 g>receptorg> (IL1R) upon stimulation. IRAK2 is reported to participate in the IL1-induced upreg>gg>ulation of NF-kappaB. [provided by RefSeq, Jul 2008]

IRAK3 Gene

interleukin-1 g>receptorg>-associated kinase 3

This g>gg>ene encodes a member of the interleukin-1 g>receptorg>-associated kinase protein family. Members of this family are essential components of the Toll/IL-R immune sig>gg>nal transduction pathways. This protein is primarily expressed in monocytes and macrophag>gg>es and functions as a neg>gg>ative reg>gg>ulator of Toll-like g>receptorg> sig>gg>naling>gg>. Mutations in this g>gg>ene are associated with a susceptibility to asthma. Alternate splicing>gg> results in multiple transcript variants. [provided by RefSeq, May 2010]

IRAK1 Gene

interleukin-1 g>receptorg>-associated kinase 1

This g>gg>ene encodes the interleukin-1 g>receptorg>-associated kinase 1, one of two putative serine/threonine kinases that become associated with the interleukin-1 g>receptorg> (IL1R) upon stimulation. This g>gg>ene is partially responsible for IL1-induced upreg>gg>ulation of the transcription factor NF-kappa B. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

IRAK4 Gene

interleukin-1 g>receptorg>-associated kinase 4

This g>gg>ene encodes a kinase that activates NF-kappaB in both the Toll-like g>receptorg> (TLR) and T-cell g>receptorg> (TCR) sig>gg>naling>gg> pathways. The protein is essential for most innate immune responses. Mutations in this g>gg>ene result in IRAK4 deficiency and recurrent invasive pneumococcal disease. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Aug>gg> 2011]

ACVR1C Gene

activin A g>receptorg>, type IC

ACVR1C is a type I g>receptorg> for the Tg>Gg>FB (see MIM 190180) family of sig>gg>naling>gg> molecules. Upon lig>gg>and binding>gg>, type I g>receptorg>s phosphorylate cytoplasmic SMAD transcription factors, which then translocate to the nucleus and interact directly with DNA or in complex with other transcription factors (Bondestam et al., 2001 [PubMed 12063393]).[supplied by OMIM, Mar 2008]

ACVR1B Gene

activin A g>receptorg>, type IB

This g>gg>ene encodes an activin A type IB g>receptorg>. Activins are dimeric g>gg>rowth and differentiation factors which belong>gg> to the transforming>gg> g>gg>rowth factor-beta (Tg>Gg>F-beta) superfamily of structurally related sig>gg>naling>gg> proteins. Activins sig>gg>nal throug>gg>h a heteromeric complex of g>receptorg> serine kinases which include at least two type I and two type II g>receptorg>s. This protein is a type I g>receptorg> which is essential for sig>gg>naling>gg>. Mutations in this g>gg>ene are associated with pituitary tumors. Alternate splicing>gg> results in multiple transcript variants.[provided by RefSeq, Jun 2010]

g>Gg>ABBR2 Gene

g>gg>amma-aminobutyric acid (g>Gg>ABA) B g>receptorg>, 2

The multi-pass membrane protein encoded by this g>gg>ene belong>gg>s to the g>Gg>-protein coupled g>receptorg> 3 family and g>Gg>ABA-B g>receptorg> subfamily. The g>Gg>ABA-B g>receptorg>s inhibit neuronal activity throug>gg>h g>Gg> g>protein-coupledg> second-messeng>gg>er systems, which reg>gg>ulate the release of neurotransmitters, and the activity of ion channels and adenylyl cyclase. This g>receptorg> subunit forms an active heterodimeric complex with g>Gg>ABA-B g>receptorg> subunit 1, neither of which is effective on its own. Allelic variants of this g>gg>ene have been associated with nicotine dependence.[provided by RefSeq, Jan 2010]

SSTR1 Gene

somatostatin g>receptorg> 1

Somatostatins are peptide hormones that reg>gg>ulate diverse cellular functions such as neurotransmission, cell proliferation, and endocrine sig>gg>naling>gg> as well as inhibiting>gg> the release of many hormones and other secretory proteins. Somatostatin has two active forms of 14 and 28 amino acids. The biolog>gg>ical effects of somatostatins are mediated by a family of g>Gg>-protein coupled somatostatin g>receptorg>s that are expressed in a tissue-specific manner. The protein encoded by this g>gg>ene is a member of the superfamily of somatostatin g>receptorg>s having>gg> seven transmembrane seg>gg>ments. Somatostatin g>receptorg>s form homodimers and heterodimers with other members of the superfamily as well as with other g>Gg>-protein coupled g>receptorg>s and g>receptorg> tyrosine kinases. This somatostatin g>receptorg> has g>gg>reater affinity for somatostatin-14 than -28. [provided by RefSeq, Jul 2012]

OR7E106P Gene

olfactory g>receptorg>, family 7, subfamily E, member 106 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TNK2 Gene

tyrosine kinase, non-g>receptorg>, 2

This g>gg>ene encodes a tyrosine kinase that binds Cdc42Hs in its g>Gg>TP-bound form and inhibits both the intrinsic and g>Gg>TPase-activating>gg> protein (g>Gg>AP)-stimulated g>Gg>TPase activity of Cdc42Hs. This binding>gg> is mediated by a unique sequence of 47 amino acids C-terminal to an SH3 domain. The protein may be involved in a reg>gg>ulatory mechanism that sustains the g>Gg>TP-bound active form of Cdc42Hs and which is directly linked to a tyrosine phosphorylation sig>gg>nal transduction pathway. Several alternatively spliced transcript variants have been identified from this g>gg>ene, but the full-leng>gg>th nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]

TNK1 Gene

tyrosine kinase, non-g>receptorg>, 1

The protein encoded by this g>gg>ene belong>gg>s to the tyrosine protein kinase family. Tyrosine protein kinases are important reg>gg>ulators of intracellular sig>gg>nal transduction pathways, mediating>gg> cellular proliferation, survival, and development. This g>gg>ene is hig>gg>hly expressed in fetal tissues and at lower levels in few adult tissues, thus may function in sig>gg>naling>gg> pathways utilized broadly during>gg> fetal development, and more selectively in adult tissues. It plays a neg>gg>ative reg>gg>ulatory role in the Ras-Raf1-MAPK pathway, and knockout mice have been shown to develop spontaneous tumors, sug>gg>g>gg>esting>gg> a role as a tumor suppressor g>gg>ene. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Oct 2011]

LOC100129099 Gene

proline-rich nuclear g>receptorg> coactivator 2 pseudog>gg>ene

KLRD1 Gene

killer cell lectin-like g>receptorg> subfamily D, member 1

Natural killer (NK) cells are a distinct lineag>gg>e of lymphocytes that mediate cytotoxic activity and secrete cytokines upon immune stimulation. Several g>gg>enes of the C-type lectin superfamily, including>gg> members of the NKg>Gg>2 family, are expressed by NK cells and may be involved in the reg>gg>ulation of NK cell function. KLRD1 (CD94) is an antig>gg>en preferentially expressed on NK cells and is classified as a type II membrane protein because it has an external C terminus. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, May 2017]

OR2S2 Gene

olfactory g>receptorg>, family 2, subfamily S, member 2 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]

OR5K4 Gene

olfactory g>receptorg>, family 5, subfamily K, member 4

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5K1 Gene

olfactory g>receptorg>, family 5, subfamily K, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5K2 Gene

olfactory g>receptorg>, family 5, subfamily K, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5K3 Gene

olfactory g>receptorg>, family 5, subfamily K, member 3

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

MILR1 Gene

mast cell immunog>gg>lobulin-like g>receptorg> 1

Predicted to enable transmembrane sig>gg>naling>gg> g>receptorg> activity. Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway; mast cell deg>gg>ranulation; and neg>gg>ative reg>gg>ulation of mast cell activation. Predicted to be located in plasma membrane. Predicted to be active in external side of plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR7E66P Gene

olfactory g>receptorg>, family 7, subfamily E, member 66 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5BS1P Gene

olfactory g>receptorg>, family 5, subfamily BS, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4C5 Gene

olfactory g>receptorg>, family 4, subfamily C, member 5 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]

OR4C6 Gene

olfactory g>receptorg>, family 4, subfamily C, member 6

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4C3 Gene

olfactory g>receptorg>, family 4, subfamily C, member 3

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TAS2R68P Gene

taste g>receptorg>, type 2, member 68 pseudog>gg>ene

OR6E1P Gene

olfactory g>receptorg>, family 6, subfamily E, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR52V1P Gene

olfactory g>receptorg>, family 52, subfamily V, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR8T1P Gene

olfactory g>receptorg>, family 8, subfamily T, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4K15 Gene

olfactory g>receptorg>, family 4, subfamily K, member 15

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4K14 Gene

olfactory g>receptorg>, family 4, subfamily K, member 14

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4K17 Gene

olfactory g>receptorg>, family 4, subfamily K, member 17

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R88P Gene

vomeronasal 1 g>receptorg> 88 pseudog>gg>ene

LOC100422502 Gene

transient g>receptorg> potential cation channel, subfamily C, member 6 pseudog>gg>ene

LOC100422500 Gene

transient g>receptorg> potential cation channel, subfamily C, member 6 pseudog>gg>ene

OR6M3P Gene

olfactory g>receptorg>, family 6, subfamily M, member 3 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR1A2 Gene

olfactory g>receptorg>, family 1, subfamily A, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR1A1 Gene

olfactory g>receptorg>, family 1, subfamily A, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

g>Gg>FRA4 Gene

g>Gg>DNF family g>receptorg> alpha 4

The protein encoded by this g>gg>ene is a member of the g>Gg>DNF g>receptorg> family. It is a g>gg>lycosylphosphatidylinositol(g>Gg>PI)-linked cell surface g>receptorg> for persephin, and mediates activation of the RET tyrosine kinase g>receptorg>. This g>gg>ene is a candidate g>gg>ene for RET-associated diseases. Alternatively spliced transcript variants encoding>gg> different isoforms have been described for this g>gg>ene. [provided by RefSeq, Jul 2008]

g>Gg>FRA1 Gene

g>Gg>DNF family g>receptorg> alpha 1

This g>gg>ene encodes a member of the g>gg>lial cell line-derived neurotrophic factor g>receptorg> (g>Gg>DNFR) family of proteins. The encoded preproprotein is proteolytically processed to g>gg>enerate the mature g>receptorg>. g>Gg>lial cell line-derived neurotrophic factor (g>Gg>DNF) and neurturin (NTN) are two structurally related, potent neurotrophic factors that play key roles in the control of neuron survival and differentiation. This g>receptorg> is a g>gg>lycosylphosphatidylinositol (g>Gg>PI)-linked cell surface g>receptorg> for both g>Gg>DNF and NTN, and mediates activation of the RET tyrosine kinase g>receptorg>. This g>gg>ene is a candidate g>gg>ene for Hirschsprung>gg> disease. Alternative splicing>gg> results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]

g>Gg>FRA3 Gene

g>Gg>DNF family g>receptorg> alpha 3

The protein encoded by this g>gg>ene is a g>gg>lycosylphosphatidylinositol(g>Gg>PI)-linked cell surface g>receptorg> and a member of the g>Gg>DNF g>receptorg> family. It forms a sig>gg>naling>gg> g>receptorg> complex with RET tyrosine kinase g>receptorg> and binds the lig>gg>and, artemin. [provided by RefSeq, Jul 2008]

g>Gg>FRA2 Gene

g>Gg>DNF family g>receptorg> alpha 2

g>Gg>lial cell line-derived neurotrophic factor (g>Gg>DNF) and neurturin (NTN) are two structurally related, potent neurotrophic factors that play key roles in the control of neuron survival and differentiation. The protein encoded by this g>gg>ene is a member of the g>Gg>DNF g>receptorg> family. It is a g>gg>lycosylphosphatidylinositol(g>Gg>PI)-linked cell surface g>receptorg> for both g>Gg>DNF and NTN, and mediates activation of the RET tyrosine kinase g>receptorg>. This encoded protein acts preferentially as a g>receptorg> for NTN compared to its other family member, g>Gg>DNF family g>receptorg> alpha 1. This g>gg>ene is a candidate g>gg>ene for RET-associated diseases. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Sep 2009]

OR52N3P Gene

olfactory g>receptorg>, family 52, subfamily N, member 3 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10J7P Gene

olfactory g>receptorg>, family 10, subfamily J, member 7 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7E46P Gene

olfactory g>receptorg>, family 7, subfamily E, member 46 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2A42 Gene

olfactory g>receptorg>, family 2, subfamily A, member 42

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR9S24P Gene

olfactory g>receptorg>, family 9, subfamily S, member 24 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R102P Gene

vomeronasal 1 g>receptorg> 102 pseudog>gg>ene

OR52Y1P Gene

olfactory g>receptorg>, family 52, subfamily Y, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

NR1H5P Gene

nuclear g>receptorg> subfamily 1, g>gg>roup H, member 5, pseudog>gg>ene

OR13F1 Gene

olfactory g>receptorg>, family 13, subfamily F, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

CCRL2 Gene

chemokine (C-C motif) g>receptorg>-like 2

This g>gg>ene encodes a chemokine g>receptorg> like protein, which is predicted to be a seven transmembrane protein and most closely related to CCR1. Chemokines and their g>receptorg>s mediated sig>gg>nal transduction are critical for the recruitment of effector immune cells to the site of inflammation. This g>gg>ene is expressed at hig>gg>h levels in primary neutrophils and primary monocytes, and is further upreg>gg>ulated on neutrophil activation and during>gg> monocyte to macrophag>gg>e differentiation. The function of this g>gg>ene is unknown. This g>gg>ene is mapped to the reg>gg>ion where the chemokine g>receptorg> g>gg>ene cluster is located. [provided by RefSeq, Jul 2008]

OR11J7P Gene

olfactory g>receptorg>, family 11, subfamily J, member 7 pseudog>gg>ene

LOC100418652 Gene

olfactory g>receptorg>, family 2, subfamily B, member 2 pseudog>gg>ene

LOC100418650 Gene

olfactory g>receptorg>, family 2, subfamily B, member 6 pseudog>gg>ene

TNFRSF6B Gene

tumor necrosis factor g>receptorg> superfamily, member 6b, decoy

This g>gg>ene belong>gg>s to the tumor necrosis factor g>receptorg> superfamily. The encoded protein is postulated to play a reg>gg>ulatory role in suppressing>gg> FasL- and LIg>Gg>HT-mediated cell death. It acts as a decoy g>receptorg> that competes with death g>receptorg>s for lig>gg>and binding>gg>. Over-expression of this g>gg>ene has been noted in g>gg>astrointestinal tract tumors. Read-throug>gg>h transcription into this g>gg>ene from the neig>gg>hboring>gg> upstream g>gg>ene, which encodes reg>gg>ulator of telomere elong>gg>ation helicase 1 (RTEL1), g>gg>enerates a non-coding>gg> transcript. [provided by RefSeq, Feb 2011]

HCRTR1 Gene

hypocretin (orexin) g>receptorg> 1

The protein encoded by this g>gg>ene is a g>Gg>-protein coupled g>receptorg> involved in the reg>gg>ulation of feeding>gg> behavior. The encoded protein selectively binds the hypothalamic neuropeptide orexin A. A related g>gg>ene (HCRTR2) encodes a g>Gg>-protein coupled g>receptorg> that binds orexin A and orexin B. [provided by RefSeq, Jan 2009]

LOC100421946 Gene

olfactory g>receptorg>, family 6, subfamily C, member 1 pseudog>gg>ene

OR10V1 Gene

olfactory g>receptorg>, family 10, subfamily V, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

PPARg>Gg>C1A Gene

peroxisome proliferator-activated g>receptorg> g>gg>amma, coactivator 1 alpha

The protein encoded by this g>gg>ene is a transcriptional coactivator that reg>gg>ulates the g>gg>enes involved in energ>gg>y metabolism. This protein interacts with PPARg>gg>amma, which permits the interaction of this protein with multiple transcription factors. This protein can interact with, and reg>gg>ulate the activities of, cAMP response element binding>gg> protein (CREB) and nuclear respiratory factors (NRFs). It provides a direct link between external physiolog>gg>ical stimuli and the reg>gg>ulation of mitochondrial biog>gg>enesis, and is a major factor that reg>gg>ulates muscle fiber type determination. This protein may be also involved in controlling>gg> blood pressure, reg>gg>ulating>gg> cellular cholesterol homoeostasis, and the development of obesity. [provided by RefSeq, Jul 2008]

PPARg>Gg>C1B Gene

peroxisome proliferator-activated g>receptorg> g>gg>amma, coactivator 1 beta

The protein encoded by this g>gg>ene stimulates the activity of several transcription factors and nuclear g>receptorg>s, including>gg> estrog>gg>en g>receptorg> alpha, nuclear respiratory factor 1, and g>gg>lucocorticoid g>receptorg>. The encoded protein may be involved in fat oxidation, non-oxidative g>gg>lucose metabolism, and the reg>gg>ulation of energ>gg>y expenditure. This protein is downreg>gg>ulated in prediabetic and type 2 diabetes mellitus patients. Certain allelic variations in this g>gg>ene increase the risk of the development of obesity. Three transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Mar 2010]

LOC341378 Gene

thyroid hormone g>receptorg> interactor 11 pseudog>gg>ene

HAVCR2 Gene

hepatitis A virus cellular g>receptorg> 2

The protein encoded by this g>gg>ene belong>gg>s to the immunog>gg>lobulin superfamily, and TIM family of proteins. CD4-positive T helper lymphocytes can be divided into types 1 (Th1) and 2 (Th2) on the basis of their cytokine secretion patterns. Th1 cells are involved in cell-mediated immunity to intracellular pathog>gg>ens and delayed-type hypersensitivity reactions, whereas, Th2 cells are involved in the control of extracellular helminthic infections and the promotion of atopic and allerg>gg>ic diseases. This protein is a Th1-specific cell surface protein that reg>gg>ulates macrophag>gg>e activation, and inhibits Th1-mediated auto- and alloimmune responses, and promotes immunolog>gg>ical tolerance. [provided by RefSeq, Sep 2011]

OR51A7 Gene

olfactory g>receptorg>, family 51, subfamily A, member 7

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7E16P Gene

olfactory g>receptorg>, family 7, subfamily E, member 16 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

IL22RA2 Gene

interleukin 22 g>receptorg>, alpha 2

This g>gg>ene encodes a member of the class II cytokine g>receptorg> family. The encoded soluble protein specifically binds to and inhibits interleukin 22 activity by blocking>gg> the interaction of interleukin 22 with its cell surface g>receptorg>. The encoded protein may be important in the reg>gg>ulation of inflammatory response, and has been implicated in the reg>gg>ulation of tumorig>gg>enesis in the colon. Alternative splicing>gg> results in multiple transcript variants encoding>gg> distinct isoforms. [provided by RefSeq, Jul 2013]

IL22RA1 Gene

interleukin 22 g>receptorg>, alpha 1

The protein encoded by this g>gg>ene belong>gg>s to the class II cytokine g>receptorg> family, and has been shown to be a g>receptorg> for interleukin 22 (IL22). IL22 g>receptorg> is a protein complex that consists of this protein and interleukin 10 g>receptorg>, beta (IL10BR/CRFB4), a subunit also shared by the g>receptorg> complex for interleukin 10 (IL10). This g>gg>ene and interleukin 28 g>receptorg>, alpha (IL28RA) form a cytokine g>receptorg> g>gg>ene cluster in the chromosomal reg>gg>ion 1p36. [provided by RefSeq, Jul 2008]

SPSB4 Gene

splA/ryanodine g>receptorg> domain and SOCS box containing>gg> 4

Enables ubiquitin-like lig>gg>ase-substrate adaptor activity. Involved in several processes, including>gg> positive reg>gg>ulation of protein polyubiquitination; protein ubiquitination; and ubiquitin-dependent protein catabolic process. Located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC730069 Gene

nuclear g>receptorg> binding>gg> factor 2 pseudog>gg>ene

CD200R1L Gene

CD200 g>receptorg> 1-like

Predicted to enable sig>gg>naling>gg> g>receptorg> activity. Predicted to be involved in reg>gg>ulation of neuroinflammatory response. Predicted to be located in membrane. Predicted to be active in external side of plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR4N3P Gene

olfactory g>receptorg>, family 4, subfamily N, member 3 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

Fg>Gg>FR3P6 Gene

fibroblast g>gg>rowth factor g>receptorg> 3 pseudog>gg>ene 6

Fg>Gg>FR3P4 Gene

fibroblast g>gg>rowth factor g>receptorg> 3 pseudog>gg>ene 4

Fg>Gg>FR3P3 Gene

fibroblast g>gg>rowth factor g>receptorg> 3 pseudog>gg>ene 3

Fg>Gg>FR3P2 Gene

fibroblast g>gg>rowth factor g>receptorg> 3 pseudog>gg>ene 2

Fg>Gg>FR3P1 Gene

fibroblast g>gg>rowth factor g>receptorg> 3 pseudog>gg>ene 1

MC4R Gene

melanocortin 4 g>receptorg>

The protein encoded by this g>gg>ene is a membrane-bound g>receptorg> and member of the melanocortin g>receptorg> family. The encoded protein interacts with adrenocorticotropic and MSH hormones and is mediated by g>Gg> proteins. This is an intronless g>gg>ene. Defects in this g>gg>ene are a cause of autosomal dominant obesity. [provided by RefSeq, Jan 2010]

PPARg>Gg> Gene

peroxisome proliferator-activated g>receptorg> g>gg>amma

This g>gg>ene encodes a member of the peroxisome proliferator-activated g>receptorg> (PPAR) subfamily of nuclear g>receptorg>s. PPARs form heterodimers with retinoid X g>receptorg>s (RXRs) and these heterodimers reg>gg>ulate transcription of various g>gg>enes. Three subtypes of PPARs are known: PPAR-alpha, PPAR-delta, and PPAR-g>gg>amma. The protein encoded by this g>gg>ene is PPAR-g>gg>amma and is a reg>gg>ulator of adipocyte differentiation. Additionally, PPAR-g>gg>amma has been implicated in the patholog>gg>y of numerous diseases including>gg> obesity, diabetes, atherosclerosis and cancer. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008]

PPARD Gene

peroxisome proliferator-activated g>receptorg> delta

This g>gg>ene encodes a member of the peroxisome proliferator-activated g>receptorg> (PPAR) family. The encoded protein is thoug>gg>ht to function as an integ>gg>rator of transcriptional repression and nuclear g>receptorg> sig>gg>naling>gg>. It may inhibit the lig>gg>and-induced transcriptional activity of peroxisome proliferator activated g>receptorg>s alpha and g>gg>amma, thoug>gg>h evidence for this effect is inconsistent. Expression of this g>gg>ene in colorectal cancer cells may be variable but is typically relatively low. Knockout studies in mice sug>gg>g>gg>ested a role for this protein in myelination of the corpus callosum, lipid metabolism, differentiation, and epidermal cell proliferation. Alternative splicing>gg> results in multiple transcript variants encoding>gg> distinct protein isoforms. [provided by RefSeq, Aug>gg> 2017]

OR52A5 Gene

olfactory g>receptorg>, family 52, subfamily A, member 5

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

PPARA Gene

peroxisome proliferator-activated g>receptorg> alpha

Peroxisome proliferators include hypolipidemic drug>gg>s, herbicides, leukotriene antag>gg>onists, and plasticizers; this term arises because they induce an increase in the size and number of peroxisomes. Peroxisomes are subcellular org>gg>anelles found in plants and animals that contain enzymes for respiration and for cholesterol and lipid metabolism. The action of peroxisome proliferators is thoug>gg>ht to be mediated via specific g>receptorg>s, called PPARs, which belong>gg> to the steroid hormone g>receptorg> superfamily. PPARs affect the expression of targ>gg>et g>gg>enes involved in cell proliferation, cell differentiation and in immune and inflammation responses. Three closely related subtypes (alpha, beta/delta, and g>gg>amma) have been identified. This g>gg>ene encodes the subtype PPAR-alpha, which is a nuclear transcription factor. Multiple alternatively spliced transcript variants have been described for this g>gg>ene, althoug>gg>h the full-leng>gg>th nature of only two has been determined. [provided by RefSeq, Jul 2008]

OR10V2P Gene

olfactory g>receptorg>, family 10, subfamily V, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4F1P Gene

olfactory g>receptorg>, family 4, subfamily F, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4F15 Gene

olfactory g>receptorg>, family 4, subfamily F, member 15

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4F16 Gene

olfactory g>receptorg>, family 4, subfamily F, member 16

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4F17 Gene

olfactory g>receptorg>, family 4, subfamily F, member 17

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRBD2 Gene

T cell g>receptorg> beta diversity 2

OR8A1 Gene

olfactory g>receptorg>, family 8, subfamily A, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100422159 Gene

olfactory g>receptorg>, family 52, subfamily N, member 2 pseudog>gg>ene

LOC100422158 Gene

olfactory g>receptorg>, family 52, subfamily B, member 4 pseudog>gg>ene

LOC100422157 Gene

olfactory g>receptorg>, family 52, subfamily J, member 3 pseudog>gg>ene

LOC100422150 Gene

olfactory g>receptorg>, family 52, subfamily K, member 1 pseudog>gg>ene

LOC100422152 Gene

olfactory g>receptorg>, family 51, subfamily L, member 1 pseudog>gg>ene

OR2Z1 Gene

olfactory g>receptorg>, family 2, subfamily Z, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

KLRK1 Gene

killer cell lectin-like g>receptorg> subfamily K, member 1

Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also reg>gg>ulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the reg>gg>ulation of NK cell function. The NKg>Gg>2 g>gg>ene family is located within the NK complex, a reg>gg>ion that contains several C-type lectin g>gg>enes preferentially expressed in NK cells. This g>gg>ene encodes a member of the NKg>Gg>2 family. The encoded transmembrane protein is characterized by a type II membrane orientation (has an extracellular C terminus) and the presence of a C-type lectin domain. It binds to a diverse family of lig>gg>ands that include MHC class I chain-related A and B proteins and UL-16 binding>gg> proteins, where lig>gg>and-g>receptorg> interactions can result in the activation of NK and T cells. The surface expression of these lig>gg>ands is important for the recog>gg>nition of stressed cells by the immune system, and thus this protein and its lig>gg>ands are therapeutic targ>gg>ets for the treatment of immune diseases and cancers. Read-throug>gg>h transcription exists between this g>gg>ene and the upstream KLRC4 (killer cell lectin-like g>receptorg> subfamily C, member 4) family member in the same cluster. [provided by RefSeq, Dec 2010]

FCg>Gg>R1C Gene

Fc frag>gg>ment of Ig>gg>g>Gg>, hig>gg>h affinity Ic, g>receptorg> (CD64), pseudog>gg>ene

The g>gg>ene represents one of three related immunog>gg>lobulin g>gg>amma Fc g>receptorg> g>gg>enes located on chromosome 1. This family member lacks the transmembrane and coiled-coiled domains found in other family members and is thoug>gg>ht to be a pseudog>gg>ene of Fc-g>gg>amma-g>receptorg> 1A. [provided by RefSeq, Apr 2009]

FCg>Gg>R1B Gene

Fc frag>gg>ment of Ig>gg>g>Gg>, hig>gg>h affinity Ib, g>receptorg> (CD64)

Three distinct, but closely related classes of g>receptorg>s that bind the Fc portion of Ig>gg>g>Gg> have been identified (Fcg>gg>amma RI, II and III). The Fcg>gg>ammaRI family consists of three closely related g>gg>enes termed A, B, and C. This g>gg>ene likely encodes a non-functional protein that is not detectable at the cell surface and binds lig>gg>and with low affinity. [provided by RefSeq, Nov 2019]

FCg>Gg>R1A Gene

Fc frag>gg>ment of Ig>gg>g>Gg>, hig>gg>h affinity Ia, g>receptorg> (CD64)

This g>gg>ene encodes a protein that plays an important role in the immune response. This protein is a hig>gg>h-affinity Fc-g>gg>amma g>receptorg>. The g>gg>ene is one of three related g>gg>ene family members located on chromosome 1. [provided by RefSeq, Jul 2008]

OR51g>Gg>2 Gene

olfactory g>receptorg>, family 51, subfamily g>Gg>, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR51g>Gg>1 Gene

olfactory g>receptorg>, family 51, subfamily g>Gg>, member 1 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]

VN1R30P Gene

vomeronasal 1 g>receptorg> 30 pseudog>gg>ene

OR3B1P Gene

olfactory g>receptorg>, family 3, subfamily B, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

PTg>Gg>ER4P3 Gene

prostag>gg>landin E g>receptorg> 4 (subtype EP4) pseudog>gg>ene 3

PTg>Gg>ER4P1 Gene

prostag>gg>landin E g>receptorg> 4 (subtype EP4) pseudog>gg>ene 1

OR2W4P Gene

olfactory g>receptorg>, family 2, subfamily W, member 4 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRBV8-2 Gene

T cell g>receptorg> beta variable 8-2 (pseudog>gg>ene)

TRBV8-1 Gene

T cell g>receptorg> beta variable 8-1 (pseudog>gg>ene)

OR7A10 Gene

olfactory g>receptorg>, family 7, subfamily A, member 10

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5C1 Gene

olfactory g>receptorg>, family 5, subfamily C, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRBV26OR9-2 Gene

T cell g>receptorg> beta variable 26/OR9-2 (pseudog>gg>ene)

OR5B1P Gene

olfactory g>receptorg>, family 5, subfamily B, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5B12 Gene

olfactory g>receptorg>, family 5, subfamily B, member 12

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR8B5P Gene

olfactory g>receptorg>, family 8, subfamily B, member 5 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR11Q1P Gene

olfactory g>receptorg>, family 11, subfamily Q, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

RXFP1 Gene

relaxin/insulin-like family peptide g>receptorg> 1

This g>gg>ene encodes a member of the leucine-rich repeat-containing>gg> subg>gg>roup of the g>Gg> g>protein-coupledg> 7-transmembrane g>receptorg> superfamily. The encoded protein plays a critical role in sperm motility, preg>gg>nancy and parturition as a g>receptorg> for the protein hormone relaxin. Decreased expression of this g>gg>ene may play a role in endometriosis. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Dec 2011]

RXFP3 Gene

relaxin/insulin-like family peptide g>receptorg> 3

Predicted to enable g>Gg> g>protein-coupledg> peptide g>receptorg> activity. Involved in positive reg>gg>ulation of cytokinesis. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RXFP2 Gene

relaxin/insulin-like family peptide g>receptorg> 2

This g>gg>ene encodes a member of the g>Gg>PCR (g>Gg> g>protein-coupledg>, 7-transmembrane g>receptorg>) family. Mutations in this g>gg>ene are associated with cryptorchidism. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene.[provided by RefSeq, Oct 2009]

RXFP4 Gene

relaxin/insulin-like family peptide g>receptorg> 4

g>Gg>PR100 is a member of the rhodopsin family of g>Gg> g>protein-coupledg> g>receptorg>s (g>Gg>PRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM, Mar 2008]

LOC100422001 Gene

olfactory g>receptorg>, family 5, subfamily J, member 2 pseudog>gg>ene

ROBO1 Gene

roundabout, axon g>gg>uidance g>receptorg>, homolog>gg> 1 (Drosophila)

Bilateral symmetric nervous systems have special midline structures that establish a partition between the two mirror imag>gg>e halves. Some axons project toward and across the midline in response to long>gg>-rang>gg>e chemoattractants emanating>gg> from the midline. The product of this g>gg>ene is a member of the immunog>gg>lobulin g>gg>ene superfamily and encodes an integ>gg>ral membrane protein that functions in axon g>gg>uidance and neuronal precursor cell mig>gg>ration. This g>receptorg> is activated by SLIT-family proteins, resulting>gg> in a repulsive effect on g>gg>lioma cell g>gg>uidance in the developing>gg> brain. A related g>gg>ene is located at an adjacent reg>gg>ion on chromosome 3. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Mar 2009]

ROBO3 Gene

roundabout, axon g>gg>uidance g>receptorg>, homolog>gg> 3 (Drosophila)

This g>gg>ene is a member of the Roundabout (ROBO) g>gg>ene family that controls neurite outg>gg>rowth, g>gg>rowth cone g>gg>uidance, and axon fasciculation. ROBO proteins are a subfamily of the immunog>gg>lobulin transmembrane g>receptorg> superfamily. SLIT proteins 1-3, a family of secreted chemorepellants, are lig>gg>ands for ROBO proteins and SLIT/ROBO interactions reg>gg>ulate myog>gg>enesis, leukocyte mig>gg>ration, kidney morphog>gg>enesis, ang>gg>iog>gg>enesis, and vasculog>gg>enesis in addition to neurog>gg>enesis. This g>gg>ene, ROBO3, has a putative extracellular domain with five immunog>gg>lobulin (Ig>gg>)-like loops and three fibronectin (Fn) type III motifs, a transmembrane seg>gg>ment, and a cytoplasmic tail with three conserved sig>gg>naling>gg> motifs: CC0, CC2, and CC3 (CC for conserved cytoplasmic). Unlike other ROBO family members, ROBO3 lacks motif CC1. The ROBO3 g>gg>ene reg>gg>ulates axonal navig>gg>ation at the ventral midline of the neural tube. In mouse, loss of Robo3 results in a complete failure of commissural axons to cross the midline throug>gg>hout the spinal cord and the hindbrain. Mutations ROBO3 result in horizontal g>gg>aze palsy with prog>gg>ressive scoliosis (Hg>Gg>PPS); an autosomal recessive disorder characterized by cong>gg>enital absence of horizontal g>gg>aze, prog>gg>ressive scoliosis, and failure of the corticospinal and somatosensory axon tracts to cross the midline in the medulla. [provided by RefSeq, May 2019]

ROBO4 Gene

roundabout, axon g>gg>uidance g>receptorg>, homolog>gg> 4 (Drosophila)

Predicted to enable cell-cell adhesion mediator activity. Involved in establishment of endothelial barrier. Located in extracellular exosome. Implicated in aortic valve disease 3. Biomarker of pre-eclampsia and thyroid g>gg>land carcinoma. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRA Gene

T cell g>receptorg> alpha locus

Enables sig>gg>naling>gg> g>receptorg> activity. Contributes to peptide antig>gg>en binding>gg> activity. Involved in T cell activation involved in immune response; T cell mediated cytotoxicity directed ag>gg>ainst tumor cell targ>gg>et; and detection of tumor cell. Located in cell surface. Part of alpha-beta T cell g>receptorg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRB Gene

T cell g>receptorg> beta locus

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> beta locus. The beta locus includes V (variable), J (joining>gg>), diversity (D), and C (constant) seg>gg>ments. During>gg> T cell development, the beta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Several V seg>gg>ments and one J seg>gg>ment of the beta locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. The beta locus also includes eig>gg>ht trypsinog>gg>en g>gg>enes, three of which encode functional proteins and five of which are pseudog>gg>enes. Chromosomal abnormalities involving>gg> the T-cell g>receptorg> beta locus have been associated with T-cell lymphomas. [provided by RefSeq, Jul 2008]

TRD Gene

T cell g>receptorg> delta locus

TRg>Gg> Gene

T cell g>receptorg> g>gg>amma locus

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> g>gg>amma locus. The g>gg>amma locus includes V (variable), J (joining>gg>), and C (constant) seg>gg>ments. During>gg> T cell development, the g>gg>amma chain is synthesized by a recombination event at the DNA level joining>gg> a V seg>gg>ment with a J seg>gg>ment; the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random addition of nucleotides by terminal deoxynucleotidyltransferase. Several V seg>gg>ments of the g>gg>amma locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. Somatic rearrang>gg>ement of the g>gg>amma locus has been observed in T cells derived from patients with T cell leukemia and ataxia telang>gg>iectasia. [provided by RefSeq, Jul 2008]

TRIP4 Gene

thyroid hormone g>receptorg> interactor 4

This g>gg>ene encodes a subunit of the tetrameric nuclear activating>gg> sig>gg>nal cointeg>gg>rator 1 (ASC-1) complex, which associates with transcriptional coactivators, nuclear g>receptorg>s and basal transcription factors to facilitate nuclear g>receptorg>s-mediated transcription. This protein is localized in the nucleus and contains an E1A-type zinc fing>gg>er domain, which mediates interaction with transcriptional coactivators and lig>gg>and-bound nuclear g>receptorg>s, such as thyroid hormone g>receptorg> and retinoid X g>receptorg> alpha, but not g>gg>lucocorticoid g>receptorg>. Mutations in this g>gg>ene are associated with spinal muscular atrophy with cong>gg>enital bone fractures-1 (SMABF1). [provided by RefSeq, Apr 2016]

OR5M7P Gene

olfactory g>receptorg>, family 5, subfamily M, member 7 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR52H1 Gene

olfactory g>receptorg>, family 52, subfamily H, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TAS2R18P Gene

taste g>receptorg>, type 2, member 18, pseudog>gg>ene

OR1I1 Gene

olfactory g>receptorg>, family 1, subfamily I, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7E149P Gene

olfactory g>receptorg>, family 7, subfamily E, member 149 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TSHRL1 Gene

thyroid stimulating>gg> hormone g>receptorg>-like 1

NPR1 Gene

natriuretic peptide g>receptorg> 1

g>Gg>uanylyl cyclases, catalyzing>gg> the production of cg>Gg>MP from g>Gg>TP, are classified as soluble and membrane forms (g>Gg>arbers and Lowe, 1994 [PubMed 7982997]). The membrane g>gg>uanylyl cyclases, often termed g>gg>uanylyl cyclases A throug>gg>h F, form a family of cell-surface g>receptorg>s with a similar topog>gg>raphic structure: an extracellular lig>gg>and-binding>gg> domain, a sing>gg>le membrane-spanning>gg> domain, and an intracellular reg>gg>ion that contains a protein kinase-like domain and a cyclase catalytic domain. g>Gg>C-A and g>Gg>C-B function as g>receptorg>s for natriuretic peptides; they are also referred to as atrial natriuretic peptide g>receptorg> A (NPR1) and type B (NPR2; MIM 108961). Also see NPR3 (MIM 108962), which encodes a protein with only the lig>gg>and-binding>gg> transmembrane and 37-amino acid cytoplasmic domains. NPR1 is a membrane-bound g>gg>uanylate cyclase that serves as the g>receptorg> for both atrial and brain natriuretic peptides (ANP (MIM 108780) and BNP (MIM 600295), respectively).[supplied by OMIM, May 2009]

Eg>Gg>FR Gene

epidermal g>gg>rowth factor g>receptorg>

The protein encoded by this g>gg>ene is a transmembrane g>gg>lycoprotein that is a member of the protein kinase superfamily. This protein is a g>receptorg> for members of the epidermal g>gg>rowth factor family. Eg>Gg>FR is a cell surface protein that binds to epidermal g>gg>rowth factor, thus inducing>gg> g>receptorg> dimerization and tyrosine autophosphorylation leading>gg> to cell proliferation. Mutations in this g>gg>ene are associated with lung>gg> cancer. Eg>Gg>FR is a component of the cytokine storm which contributes to a severe form of Coronavirus Disease 2019 (COVID-19) resulting>gg> from infection with severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2). [provided by RefSeq, Jul 2020]

OR2H5P Gene

olfactory g>receptorg>, family 2, subfamily H, member 5 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

CHRNg>Gg> Gene

cholinerg>gg>ic g>receptorg>, nicotinic, g>gg>amma (muscle)

The mammalian muscle-type acetylcholine g>receptorg> is a transmembrane pentameric g>gg>lycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or g>gg>amma (in fetal and denervated muscle) subunit. This g>gg>ene, which encodes the g>gg>amma subunit, is expressed prior to the thirty-third week of g>gg>estation in humans. The g>gg>amma subunit of the acetylcholine g>receptorg> plays a role in neuromuscular org>gg>anog>gg>enesis and lig>gg>and binding>gg> and disruption of g>gg>amma subunit expression prevents the correct localization of the g>receptorg> in cell membranes. Mutations in this g>gg>ene cause Escobar syndrome and a lethal form of multiple pteryg>gg>ium syndrome. Muscle-type acetylcholine g>receptorg> is the major antig>gg>en in the autoimmune disease myasthenia g>gg>ravis.[provided by RefSeq, Sep 2009]

CHRND Gene

cholinerg>gg>ic g>receptorg>, nicotinic, delta (muscle)

The acetylcholine g>receptorg> of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, g>gg>amma and delta subunits. After acetylcholine binding>gg>, the g>receptorg> underg>gg>oes an extensive conformation chang>gg>e that affects all subunits and leads to opening>gg> of an ion-conducting>gg> channel across the plasma membrane. Defects in this g>gg>ene are a cause of multiple pteryg>gg>ium syndrome lethal type (MUPSL), cong>gg>enital myasthenic syndrome slow-channel type (SCCMS), and cong>gg>enital myasthenic syndrome fast-channel type (FCCMS). Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2015]

CHRNE Gene

cholinerg>gg>ic g>receptorg>, nicotinic, epsilon (muscle)

Acetylcholine g>receptorg>s at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The acetylcholine g>receptorg> chang>gg>es subunit composition shortly after birth when the epsilon subunit replaces the g>gg>amma subunit seen in embryonic g>receptorg>s. Mutations in the epsilon subunit are associated with cong>gg>enital myasthenic syndrome. [provided by RefSeq, Sep 2009]

PROKR1 Gene

prokineticin g>receptorg> 1

This g>gg>ene encodes a member of the g>Gg>-g>protein-coupledg> g>receptorg> family. The encoded protein binds to prokineticins (1 and 2), leading>gg> to the activation of MAPK and STAT sig>gg>naling>gg> pathways. Prokineticins are protein lig>gg>ands involved in ang>gg>iog>gg>enesis and inflammation. The encoded protein is expressed in peripheral tissues such as those comprising>gg> the circulatory system, lung>gg>s, reproductive system, endocrine system and the g>gg>astrointestinal system. The protein may be involved in sig>gg>naling>gg> in human fetal ovary during>gg> initiation of primordial follicle formation. Sequence variants in this g>gg>ene may be associated with recurrent miscarriag>gg>e. [provided by RefSeq, Aug>gg> 2016]

PROKR2 Gene

prokineticin g>receptorg> 2

Prokineticins are secreted proteins that can promote ang>gg>iog>gg>enesis and induce strong>gg> g>gg>astrointestinal smooth muscle contraction. The protein encoded by this g>gg>ene is an integ>gg>ral membrane protein and g>Gg> g>protein-coupledg> g>receptorg> for prokineticins. The encoded protein is similar in sequence to g>Gg>PR73, another g>Gg> g>protein-coupledg> g>receptorg> for prokineticins. [provided by RefSeq, Jul 2008]

OR14L1P Gene

olfactory g>receptorg>, family 14, subfamily L, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2J4P Gene

olfactory g>receptorg>, family 2, subfamily J, member 4 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TREM1 Gene

trig>gg>g>gg>ering>gg> g>receptorg> expressed on myeloid cells 1

This g>gg>ene encodes a g>receptorg> belong>gg>ing>gg> to the Ig>gg> superfamily that is expressed on myeloid cells. This protein amplifies neutrophil and monocyte-mediated inflammatory responses trig>gg>g>gg>ered by bacterial and fung>gg>al infections by stimulating>gg> release of pro-inflammatory chemokines and cytokines, as well as increased surface expression of cell activation markers. Alternatively spliced transcript variants encoding>gg> different isoforms have been noted for this g>gg>ene.[provided by RefSeq, Jun 2011]

TREM2 Gene

trig>gg>g>gg>ering>gg> g>receptorg> expressed on myeloid cells 2

This g>gg>ene encodes a membrane protein that forms a g>receptorg> sig>gg>naling>gg> complex with the TYRO protein tyrosine kinase binding>gg> protein. The encoded protein functions in immune response and may be involved in chronic inflammation by trig>gg>g>gg>ering>gg> the production of constitutive inflammatory cytokines. Defects in this g>gg>ene are a cause of polycystic lipomembranous osteodysplasia with sclerosing>gg> leukoencephalopathy (PLOSL). Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Nov 2012]

NR1H4 Gene

nuclear g>receptorg> subfamily 1, g>gg>roup H, member 4

This g>gg>ene encodes a lig>gg>and-activated transcription factor that shares structural features in common with nuclear hormone g>receptorg> family members. This protein functions as a g>receptorg> for bile acids, and when bound to bile acids, binds to DNA and reg>gg>ulates the expression of g>gg>enes involved in bile acid synthesis and transport. Alternatively spliced transcript variants encoding>gg> different isoforms have been described. [provided by RefSeq, Feb 2016]

NR1H2 Gene

nuclear g>receptorg> subfamily 1, g>gg>roup H, member 2

The liver X g>receptorg>s, LXRA (NR1H3; MIM 602423) and LXRB, form a subfamily of the nuclear g>receptorg> superfamily and are key reg>gg>ulators of macrophag>gg>e function, controlling>gg> transcriptional prog>gg>rams involved in lipid homeostasis and inflammation. The inducible LXRA is hig>gg>hly expressed in liver, adrenal g>gg>land, intestine, adipose tissue, macrophag>gg>es, lung>gg>, and kidney, whereas LXRB is ubiquitously expressed. Lig>gg>and-activated LXRs form oblig>gg>ate heterodimers with retinoid X g>receptorg>s (RXRs; see MIM 180245) and reg>gg>ulate expression of targ>gg>et g>gg>enes containing>gg> LXR response elements (summary by Korf et al., 2009 [PubMed 19436111]).[supplied by OMIM, Jan 2010]

OR2A13P Gene

olfactory g>receptorg>, family 2, subfamily A, member 13 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR6D1P Gene

olfactory g>receptorg>, family 6, subfamily D, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC103047893 Gene

vomeronasal 1 g>receptorg> 49 pseudog>gg>ene

OR10AF1P Gene

olfactory g>receptorg>, family 10, subfamily AF, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5H5P Gene

olfactory g>receptorg>, family 5, subfamily H, member 5 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR11H2 Gene

olfactory g>receptorg>, family 11, subfamily H, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR11H1 Gene

olfactory g>receptorg>, family 11, subfamily H, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR11H7 Gene

olfactory g>receptorg>, family 11, subfamily H, member 7 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]

OR11H6 Gene

olfactory g>receptorg>, family 11, subfamily H, member 6

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR11H4 Gene

olfactory g>receptorg>, family 11, subfamily H, member 4

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TNFRSF13B Gene

tumor necrosis factor g>receptorg> superfamily, member 13B

The protein encoded by this g>gg>ene is a lymphocyte-specific member of the tumor necrosis factor (TNF) g>receptorg> superfamily. It interacts with calcium-modulator and cyclophilin lig>gg>and (CAML). The protein induces activation of the transcription factors NFAT, AP1, and NF-kappa-B and plays a crucial role in humoral immunity by interacting>gg> with a TNF lig>gg>and. This g>gg>ene is located within the Smith-Mag>gg>enis syndrome reg>gg>ion on chromosome 17. [provided by RefSeq, Jul 2008]

TNFRSF13C Gene

tumor necrosis factor g>receptorg> superfamily, member 13C

B cell-activating>gg> factor (BAFF) enhances B-cell survival in vitro and is a reg>gg>ulator of the peripheral B-cell population. Overexpression of Baff in mice results in mature B-cell hyperplasia and symptoms of systemic lupus erythematosus (SLE). Also, some SLE patients have increased levels of BAFF in serum. Therefore, it has been proposed that abnormally hig>gg>h levels of BAFF may contribute to the pathog>gg>enesis of autoimmune diseases by enhancing>gg> the survival of autoreactive B cells. The protein encoded by this g>gg>ene is a g>receptorg> for BAFF and is a type III transmembrane protein containing>gg> a sing>gg>le extracellular cysteine-rich domain. It is thoug>gg>ht that this g>receptorg> is the principal g>receptorg> required for BAFF-mediated mature B-cell survival. [provided by RefSeq, Jul 2008]

LOC100421848 Gene

olfactory g>receptorg>, family 2, subfamily S, member 2 pseudog>gg>ene

LOC100421849 Gene

olfactory g>receptorg>, family 2, subfamily S, member 2 pseudog>gg>ene

LOC100421845 Gene

olfactory g>receptorg>, family 1, subfamily S, member 2 pseudog>gg>ene

NR3C2 Gene

nuclear g>receptorg> subfamily 3, g>gg>roup C, member 2

This g>gg>ene encodes the mineralocorticoid g>receptorg>, which mediates aldosterone actions on salt and water balance within restricted targ>gg>et cells. The protein functions as a lig>gg>and-dependent transcription factor that binds to mineralocorticoid response elements in order to transactivate targ>gg>et g>gg>enes. Mutations in this g>gg>ene cause autosomal dominant pseudohypoaldosteronism type I, a disorder characterized by urinary salt wasting>gg>. Defects in this g>gg>ene are also associated with early onset hypertension with severe exacerbation in preg>gg>nancy. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Oct 2009]

OR6C76 Gene

olfactory g>receptorg>, family 6, subfamily C, member 76

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR6C70 Gene

olfactory g>receptorg>, family 6, subfamily C, member 70

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R72P Gene

vomeronasal 1 g>receptorg> 72 pseudog>gg>ene

OR7E25P Gene

olfactory g>receptorg>, family 7, subfamily E, member 25 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7E126P Gene

olfactory g>receptorg>, family 7, subfamily E, member 126 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R49P Gene

vomeronasal 1 g>receptorg> 49 pseudog>gg>ene

IL11RA Gene

interleukin 11 g>receptorg>, alpha

Interleukin 11 is a stromal cell-derived cytokine that belong>gg>s to a family of pleiotropic and redundant cytokines that use the g>gg>p130 transducing>gg> subunit in their hig>gg>h affinity g>receptorg>s. This g>gg>ene encodes the IL-11 g>receptorg>, which is a member of the hematopoietic cytokine g>receptorg> family. This particular g>receptorg> is very similar to ciliary neurotrophic factor, since both contain an extracellular reg>gg>ion with a 2-domain structure composed of an immunog>gg>lobulin-like domain and a cytokine g>receptorg>-like domain. Multiple alternatively spliced transcript variants have been found for this g>gg>ene. [provided by RefSeq, Jun 2012]

ALK Gene

anaplastic lymphoma g>receptorg> tyrosine kinase

This g>gg>ene encodes a g>receptorg> tyrosine kinase, which belong>gg>s to the insulin g>receptorg> superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding>gg> to a sing>gg>le pass transmembrane reg>gg>ion, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This g>gg>ene has been found to be rearrang>gg>ed, mutated, or amplified in a series of tumours including>gg> anaplastic larg>gg>e cell lymphomas, neuroblastoma, and non-small cell lung>gg> cancer. The chromosomal rearrang>gg>ements are the most common g>gg>enetic alterations in this g>gg>ene, which result in creation of multiple fusion g>gg>enes in tumourig>gg>enesis, including>gg> ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFg>Gg> (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), ALK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011]

LILRA6 Gene

leukocyte immunog>gg>lobulin-like g>receptorg>, subfamily A (with TM domain), member 6

Predicted to be involved in immune response-reg>gg>ulating>gg> sig>gg>naling>gg> pathway. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LILRA4 Gene

leukocyte immunog>gg>lobulin-like g>receptorg>, subfamily A (with TM domain), member 4

This g>gg>ene encodes an immunog>gg>lobulin-like cell surface protein that is expressed predominantly on plasmacytoid dendritic cells (PDCs) and modulates the function of these cells in the immune response. Expression of this g>gg>ene is downreg>gg>ulated by interleukin 3 (IL3). This g>gg>ene is one of a cluster of hig>gg>hly related g>gg>enes located at chromosomal reg>gg>ion 19q13.4. [provided by RefSeq, Jan 2015]

LILRA5 Gene

leukocyte immunog>gg>lobulin-like g>receptorg>, subfamily A (with TM domain), member 5

The protein encoded by this g>gg>ene is a member of the leukocyte immunog>gg>lobulin-like g>receptorg> (LIR) family. LIR family members are known to have activating>gg> and inibitory functions in leukocytes. Crosslink of this g>receptorg> protein on the surface of monocytes has been shown to induce calcium flux and secretion of several proinflammatory cytokines, which sug>gg>g>gg>ests the roles of this protein in trig>gg>g>gg>ering>gg> innate immune responses. This g>gg>ene is one of the leukocyte g>receptorg> g>gg>enes that form a g>gg>ene cluster on the chromosomal reg>gg>ion 19q13.4. Four alternatively spliced transcript variants encoding>gg> distinct isoforms have been described. [provided by RefSeq, Jul 2008]

LILRA2 Gene

leukocyte immunog>gg>lobulin-like g>receptorg>, subfamily A (with TM domain), member 2

This g>gg>ene encodes a member of a family of immunog>receptorg>s that are expressed predominantly on monocytes and B cells, and at lower levels on dendritic cells and natural killer cells. The encoded protein is an activating>gg> g>receptorg> that inhibits dendritic cell differentiation and antig>gg>en presentation and suppresses innate immune response. Alternatively spliced transcript variants encoding>gg> different isoforms have been found. This g>gg>ene is located in a cluster of related g>gg>enes on chromosome 19 and there is a pseudog>gg>ene for this g>gg>ene on chromosome 3. [provided by RefSeq, Mar 2014]

LILRA3 Gene

leukocyte immunog>gg>lobulin-like g>receptorg>, subfamily A (without TM domain), member 3

This g>gg>ene encodes a member of a family of immunog>receptorg>s that are expressed predominantly in monocytes and B cells, and at lower levels in dendritic cells and natural killer cells. The encoded protein lacks the transmembrane reg>gg>ion found in other members of this family. It acts as a soluble g>receptorg> for class I major histocompatibility complex (MHC) antig>gg>ens. Alternatively spliced transcript variants encoding>gg> different isoforms have been found. This g>gg>ene is located in a cluster of related g>gg>enes on chromosome 19 and is polymorphic in human populations, with many individuals containing>gg> a deletion of this g>gg>enomic reg>gg>ion. [provided by RefSeq, Mar 2014]

LILRA1 Gene

leukocyte immunog>gg>lobulin-like g>receptorg>, subfamily A (with TM domain), member 1

This g>gg>ene encodes an activating>gg> member of the leukocyte immunog>gg>lobulin-like g>receptorg> (LIR) family, which is found in a g>gg>ene cluster at chromosomal reg>gg>ion 19q13.4. The encoded protein is predominantly expressed in B cells, interacts with major histocompatibility complex class I lig>gg>ands, and contributes to the reg>gg>ulation of immune responses. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, May 2013]

OR13Z3P Gene

olfactory g>receptorg>, family 13, subfamily Z, member 3 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

Tg>Gg>FBR3 Gene

transforming>gg> g>gg>rowth factor, beta g>receptorg> III

This locus encodes the transforming>gg> g>gg>rowth factor (Tg>Gg>F)-beta type III g>receptorg>. The encoded g>receptorg> is a membrane proteog>gg>lycan that often functions as a co-g>receptorg> with other Tg>Gg>F-beta g>receptorg> superfamily members. Ectodomain shedding>gg> produces soluble Tg>Gg>FBR3, which may inhibit Tg>Gg>FB sig>gg>naling>gg>. Decreased expression of this g>receptorg> has been observed in various cancers. Alternatively spliced transcript variants encoding>gg> different isoforms have been identified for this g>gg>ene.[provided by RefSeq, Sep 2010]

TRDJ4 Gene

T cell g>receptorg> delta joining>gg> 4

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRDJ1 Gene

T cell g>receptorg> delta joining>gg> 1

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRDJ3 Gene

T cell g>receptorg> delta joining>gg> 3

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRDJ2 Gene

T cell g>receptorg> delta joining>gg> 2

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

OR52Z1 Gene

olfactory g>receptorg>, family 52, subfamily Z, member 1 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]

OR5g>Gg>5P Gene

olfactory g>receptorg>, family 5, subfamily g>Gg>, member 5 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

KLRC1 Gene

killer cell lectin-like g>receptorg> subfamily C, member 1

Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also reg>gg>ulate specific humoral and cell-mediated immunity. The protein encoded by this g>gg>ene belong>gg>s to the killer cell lectin-like g>receptorg> family, also called NKg>Gg>2 family, which is a g>gg>roup of transmembrane proteins preferentially expressed in NK cells. This family of proteins is characterized by the type II membrane orientation and the presence of a C-type lectin domain. This protein forms a complex with another family member, KLRD1/CD94, and has been implicated in the recog>gg>nition of the MHC class I HLA-E molecules in NK cells. The g>gg>enes of NKg>Gg>2 family members form a killer cell lectin-like g>receptorg> g>gg>ene cluster on chromosome 12. Multiple alternatively spliced transcript variants encoding>gg> distinct isoforms have been observed. [provided by RefSeq, Jan 2015]

KLRC3 Gene

killer cell lectin-like g>receptorg> subfamily C, member 3

Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also reg>gg>ulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the reg>gg>ulation of NK cell function. KLRC3 is a member of the NKg>Gg>2 g>gg>roup which are expressed primarily in natural killer (NK) cells and encodes a family of transmembrane proteins characterized by a type II membrane orientation (extracellular C terminus) and the presence of a C-type lectin domain. The NKg>Gg>2 g>gg>ene family is located within the NK complex, a reg>gg>ion that contains several C-type lectin g>gg>enes preferentially expressed on NK cells. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Jul 2008]

KLRC2 Gene

killer cell lectin-like g>receptorg> subfamily C, member 2

Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also reg>gg>ulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the reg>gg>ulation of NK cell function. The g>gg>roup, desig>gg>nated KLRC (NKg>Gg>2) are expressed primarily in natural killer (NK) cells and encodes a family of transmembrane proteins characterized by a type II membrane orientation (extracellular C terminus) and the presence of a C-type lectin domain. The KLRC (NKg>Gg>2) g>gg>ene family is located within the NK complex, a reg>gg>ion that contains several C-type lectin g>gg>enes preferentially expressed on NK cells. KLRC2 alternative splice variants have been described but their full-leng>gg>th nature has not been determined. [provided by RefSeq, Jul 2008]

KLRC4 Gene

killer cell lectin-like g>receptorg> subfamily C, member 4

Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also reg>gg>ulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the reg>gg>ulation of NK cell function. This g>gg>ene is a member of the NKg>Gg>2 g>gg>roup of g>gg>enes that are expressed primarily in natural killer (NK) cells. These family members encode transmembrane proteins that are characterized by a type II membrane orientation (have an extracellular C-terminus) and the presence of a C-type lectin domain. This family member is located within the NK complex, a reg>gg>ion that contains several C-type lectin g>gg>enes preferentially expressed in NK cells. Read-throug>gg>h transcription exists between this g>gg>ene and the downstream KLRK1 (killer cell lectin-like g>receptorg> subfamily K, member 1) family member. [provided by RefSeq, Dec 2010]

OR2AH1P Gene

olfactory g>receptorg>, family 2, subfamily AH, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

Ag>Gg>TR2 Gene

ang>gg>iotensin II g>receptorg>, type 2

The protein encoded by this g>gg>ene belong>gg>s to the g>Gg>-protein coupled g>receptorg> 1 family, and functions as a g>receptorg> for ang>gg>iotensin II. It is an interg>gg>ral membrane protein that is hig>gg>hly expressed in fetus and in neonates, but scantily in adult tissues, except brain, adrenal medulla, and atretic ovary. This g>receptorg> has been shown to mediate prog>gg>rammed cell death and this apoptotic function may play an important role in developmental biolog>gg>y and pathophysiolog>gg>y. Mutations in this g>gg>ene are been associated with X-linked cog>gg>nitive disability. Severe Acute Respiratory Syndrome Coronavirus (SARS-CoV) and SARS-CoV-2 infection results in down-reg>gg>ulation of ang>gg>iotensin converting>gg> enzyme-2 (ACE2) g>receptorg>s, the effects of which, trig>gg>g>gg>ers serious inflammatory lesions in the tissues involved, primarily in the lung>gg>s. The inflammatory reaction appears to be mediated by ang>gg>iotensin II derivatives, including>gg> the ang>gg>iotensin AT2 g>receptorg> which has been found to be upreg>gg>ulated in bronchoalveolar lavag>gg>e samples from Coronavirus disease 2019 (COVID19) patients. [provided by RefSeq, Jul 2020]

Ag>Gg>TR1 Gene

ang>gg>iotensin II g>receptorg>, type 1

Ang>gg>iotensin II is a potent vasopressor hormone and a primary reg>gg>ulator of aldosterone secretion. It is an important effector controlling>gg> blood pressure and volume in the cardiovascular system. It acts throug>gg>h at least two types of g>receptorg>s. This g>gg>ene encodes the type 1 g>receptorg> which is thoug>gg>ht to mediate the major cardiovascular effects of ang>gg>iotensin II. This g>gg>ene may play a role in the g>gg>eneration of reperfusion arrhythmias following>gg> restoration of blood flow to ischemic or infarcted myocardium. It was previously thoug>gg>ht that a related g>gg>ene, denoted as Ag>Gg>TR1B, existed; however, it is now believed that there is only one type 1 g>receptorg> g>gg>ene in humans. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants. [provided by RefSeq, Aug>gg> 2020]

OR4A46P Gene

olfactory g>receptorg>, family 4, subfamily A, member 46 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

ADCYAP1R1 Gene

adenylate cyclase activating>gg> polypeptide 1 (pituitary) g>receptorg> type I

This g>gg>ene encodes type I adenylate cyclase activating>gg> polypeptide g>receptorg>, which is a membrane-associated protein and shares sig>gg>nificant homolog>gg>y with members of the g>gg>lucag>gg>on/secretin g>receptorg> family. This g>receptorg> mediates diverse biolog>gg>ical actions of adenylate cyclase activating>gg> polypeptide 1 and is positively coupled to adenylate cyclase. Multiple alternatively spliced transcript variants encoding>gg> distinct isoforms have been identified. [provided by RefSeq, Dec 2010]

NR1H3 Gene

nuclear g>receptorg> subfamily 1, g>gg>roup H, member 3

The protein encoded by this g>gg>ene belong>gg>s to the NR1 subfamily of the nuclear g>receptorg> superfamily. The NR1 family members are key reg>gg>ulators of macrophag>gg>e function, controlling>gg> transcriptional prog>gg>rams involved in lipid homeostasis and inflammation. This protein is hig>gg>hly expressed in visceral org>gg>ans, including>gg> liver, kidney and intestine. It forms a heterodimer with retinoid X g>receptorg> (RXR), and reg>gg>ulates expression of targ>gg>et g>gg>enes containing>gg> retinoid response elements. Studies in mice lacking>gg> this g>gg>ene sug>gg>g>gg>est that it may play an important role in the reg>gg>ulation of cholesterol homeostasis. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Oct 2011]

RYR1 Gene

ryanodine g>receptorg> 1 (skeletal)

This g>gg>ene encodes a ryanodine g>receptorg> found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this g>gg>ene are associated with malig>gg>nant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmopleg>gg>ia. Alternatively spliced transcripts encoding>gg> different isoforms have been described. [provided by RefSeq, Jul 2008]

RYR3 Gene

ryanodine g>receptorg> 3

The protein encoded by this g>gg>ene is a ryanodine g>receptorg>, which functions to release calcium from intracellular storag>gg>e for use in many cellular processes. For example, the encoded protein is involved in skeletal muscle contraction by releasing>gg> calcium from the sarcoplasmic reticulum followed by depolarization of T-tubules. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Sep 2011]

OR10B1P Gene

olfactory g>receptorg>, family 10, subfamily B, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

CH17-360D5.1 Gene

neuropeptide Y g>receptorg> type 4-like

Enables pancreatic polypeptide g>receptorg> activity and peptide hormone binding>gg> activity. Involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway. Located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR7E59P Gene

olfactory g>receptorg>, family 7, subfamily E, member 59 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

CCKAR Gene

cholecystokinin A g>receptorg>

This g>gg>ene encodes a g>Gg>-protein coupled g>receptorg> that binds non-sulfated members of the cholecystokinin (CCK) family of peptide hormones. This g>receptorg> is a major physiolog>gg>ic mediator of pancreatic enzyme secretion and smooth muscle contraction of the g>gg>allbladder and stomach. In the central and peripheral nervous system this g>receptorg> reg>gg>ulates satiety and the release of beta-endorphin and dopamine. [provided by RefSeq, Jul 2008]

VN2R12P Gene

vomeronasal 2 g>receptorg> 12 pseudog>gg>ene

FOLR1 Gene

folate g>receptorg> 1 (adult)

The protein encoded by this g>gg>ene is a member of the folate g>receptorg> family. Members of this g>gg>ene family bind folic acid and its reduced derivatives, and transport 5-methyltetrahydrofolate into cells. This g>gg>ene product is a secreted protein that either anchors to membranes via a g>gg>lycosyl-phosphatidylinositol linkag>gg>e or exists in a soluble form. Mutations in this g>gg>ene have been associated with neurodeg>gg>eneration due to cerebral folate transport deficiency. Due to the presence of two promoters, multiple transcription start sites, and alternative splicing>gg>, multiple transcript variants encoding>gg> the same protein have been found for this g>gg>ene. [provided by RefSeq, Oct 2009]

OR5AM1P Gene

olfactory g>receptorg>, family 5, subfamily AM, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

HRH4 Gene

histamine g>receptorg> H4

Histamine is a ubiquitous messeng>gg>er molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by a family of histamine g>receptorg>s, which are a subset of the g>Gg>-protein coupled g>receptorg> superfamily. This g>gg>ene encodes a histamine g>receptorg> that is predominantly expressed in haematopoietic cells. The protein is thoug>gg>ht to play a role in inflammation and allerg>gg>y reponses. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, May 2009]

HRH2 Gene

histamine g>receptorg> H2

Histamine is a ubiquitous messeng>gg>er molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine g>receptorg>s H1, H2, H3 and H4. Histamine g>receptorg> H2 belong>gg>s to the family 1 of g>Gg> g>protein-coupledg> g>receptorg>s. It is an integ>gg>ral membrane protein and stimulates g>gg>astric acid secretion. It also reg>gg>ulates g>gg>astrointestinal motility and intestinal secretion and is thoug>gg>ht to be involved in reg>gg>ulating>gg> cell g>gg>rowth and differentiation. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Aug>gg> 2008]

HRH3 Gene

histamine g>receptorg> H3

Histamine is a ubiquitous messeng>gg>er molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine g>receptorg>s H1, H2, H3 and H4. This g>gg>ene encodes one of the histamine g>receptorg>s (H3) which belong>gg>s to the family 1 of g>Gg> g>protein-coupledg> g>receptorg>s. It is an integ>gg>ral membrane protein and can reg>gg>ulate neurotransmitter release. This g>receptorg> can also increase voltag>gg>e-dependent calcium current in smooth muscles and innervates the blood vessels and the heart in cardiovascular system. [provided by RefSeq, Jul 2008]

HRH1 Gene

histamine g>receptorg> H1

Histamine is a ubiquitous messeng>gg>er molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine g>receptorg>s H1, H2, H3 and H4. The protein encoded by this g>gg>ene is an integ>gg>ral membrane protein and belong>gg>s to the g>Gg> g>protein-coupledg> g>receptorg> superfamily. It mediates the contraction of smooth muscles, the increase in capillary permeability due to contraction of terminal venules, the release of catecholamine from adrenal medulla, and neurotransmission in the central nervous system. It has been associated with multiple processes, including>gg> memory and learning>gg>, circadian rhythm, and thermoreg>gg>ulation. It is also known to contribute to the pathophysiolog>gg>y of allerg>gg>ic diseases such as atopic dermatitis, asthma, anaphylaxis and allerg>gg>ic rhinitis. Multiple alternatively spliced variants, encoding>gg> the same protein, have been identified. [provided by RefSeq, Jan 2015]

OR13I1P Gene

olfactory g>receptorg>, family 13, subfamily I, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4H6P Gene

olfactory g>receptorg>, family 4, subfamily H, member 6 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5P3 Gene

olfactory g>receptorg>, family 5, subfamily P, member 3

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5P2 Gene

olfactory g>receptorg>, family 5, subfamily P, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR1P1 Gene

olfactory g>receptorg>, family 1, subfamily P, member 1 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]

LHCg>Gg>R Gene

luteinizing>gg> hormone/choriog>gg>onadotropin g>receptorg>

This g>gg>ene encodes the g>receptorg> for both luteinizing>gg> hormone and choriog>gg>onadotropin. This g>receptorg> belong>gg>s to the g>Gg>-protein coupled g>receptorg> 1 family, and its activity is mediated by g>Gg> proteins which activate adenylate cyclase. Mutations in this g>gg>ene result in disorders of male secondary sexual character development, including>gg> familial male precocious puberty, also known as testotoxicosis, hypog>gg>onadotropic hypog>gg>onadism, Leydig>gg> cell adenoma with precocious puberty, and male pseudohermaphtoditism with Leydig>gg> cell hypoplasia. [provided by RefSeq, Jul 2008]

OR1Q1 Gene

olfactory g>receptorg>, family 1, subfamily Q, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R22P Gene

vomeronasal 1 g>receptorg> 22 pseudog>gg>ene

VN1R9P Gene

vomeronasal 1 g>receptorg> 9 pseudog>gg>ene

OR10AH1P Gene

olfactory g>receptorg>, family 10, subfamily AH, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRBJ1-6 Gene

T cell g>receptorg> beta joining>gg> 1-6

Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell g>receptorg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBJ1-5 Gene

T cell g>receptorg> beta joining>gg> 1-5

Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell g>receptorg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBJ1-4 Gene

T cell g>receptorg> beta joining>gg> 1-4

Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell g>receptorg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBJ1-3 Gene

T cell g>receptorg> beta joining>gg> 1-3

Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell g>receptorg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBJ1-2 Gene

T cell g>receptorg> beta joining>gg> 1-2

Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell g>receptorg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBJ1-1 Gene

T cell g>receptorg> beta joining>gg> 1-1

Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell g>receptorg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SRC Gene

SRC proto-oncog>gg>ene, non-g>receptorg> tyrosine kinase

This g>gg>ene is hig>gg>hly similar to the v-src g>gg>ene of Rous sarcoma virus. This proto-oncog>gg>ene may play a role in the reg>gg>ulation of embryonic development and cell g>gg>rowth. The protein encoded by this g>gg>ene is a tyrosine-protein kinase whose activity can be inhibited by phosphorylation by c-SRC kinase. Mutations in this g>gg>ene could be involved in the malig>gg>nant prog>gg>ression of colon cancer. Two transcript variants encoding>gg> the same protein have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

LOC100419772 Gene

Cg>Gg>RP g>receptorg> component pseudog>gg>ene

OR2AT2P Gene

olfactory g>receptorg>, family 2, subfamily AT, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR13D2P Gene

olfactory g>receptorg>, family 13, subfamily D, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

PLAUR Gene

plasminog>gg>en activator, urokinase g>receptorg>

This g>gg>ene encodes the g>receptorg> for urokinase plasminog>gg>en activator and, g>gg>iven its role in localizing>gg> and promoting>gg> plasmin formation, likely influences many normal and patholog>gg>ical processes related to cell-surface plasminog>gg>en activation and localized deg>gg>radation of the extracellular matrix. It binds both the proprotein and mature forms of urokinase plasminog>gg>en activator and permits the activation of the g>receptorg>-bound pro-enzyme by plasmin. The protein lacks transmembrane or cytoplasmic domains and may be anchored to the plasma membrane by a g>gg>lycosyl-phosphatidylinositol (g>Gg>PI) moiety following>gg> cleavag>gg>e of the nascent polypeptide near its carboxy-terminus. However, a soluble protein is also produced in some cell types. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. The proprotein experiences several post-translational cleavag>gg>e reactions that have not yet been fully defined. [provided by RefSeq, Jul 2008]

LOC100422009 Gene

olfactory g>receptorg>, family 4, subfamily D, member 9 pseudog>gg>ene

LOC100422007 Gene

olfactory g>receptorg>, family 9, subfamily g>Gg>, member 9 pseudog>gg>ene

LOC100422006 Gene

olfactory g>receptorg>, family 8, subfamily H, member 3 pseudog>gg>ene

LOC100422005 Gene

olfactory g>receptorg>, family 8, subfamily H, member 3 pseudog>gg>ene

LOC100422004 Gene

olfactory g>receptorg>, family 5, subfamily R, member 1 pseudog>gg>ene

LOC100422003 Gene

olfactory g>receptorg>, family 8, subfamily K, member 5 pseudog>gg>ene

LOC100422002 Gene

olfactory g>receptorg>, family 5, subfamily J, member 2 pseudog>gg>ene

LOC100422000 Gene

olfactory g>receptorg>, family 5, subfamily J, member 2 pseudog>gg>ene

PIg>Gg>R Gene

polymeric immunog>gg>lobulin g>receptorg>

This g>gg>ene is a member of the immunog>gg>lobulin superfamily. The encoded poly-Ig>gg> g>receptorg> binds polymeric immunog>gg>lobulin molecules at the basolateral surface of epithelial cells; the complex is then transported across the cell to be secreted at the apical surface. A sig>gg>nificant association was found between immunog>gg>lobulin A nephropathy and several SNPs in this g>gg>ene.[provided by RefSeq, Sep 2009]

RYKP1 Gene

g>receptorg>-like tyrosine kinase pseudog>gg>ene 1

VN1R96P Gene

vomeronasal 1 g>receptorg> 96 pseudog>gg>ene

NTRK1 Gene

neurotrophic tyrosine kinase, g>receptorg>, type 1

This g>gg>ene encodes a member of the neurotrophic tyrosine kinase g>receptorg> (NTKR) family. This kinase is a membrane-bound g>receptorg> that, upon neurotrophin binding>gg>, phosphorylates itself and members of the MAPK pathway. The presence of this kinase leads to cell differentiation and may play a role in specifying>gg> sensory neuron subtypes. Mutations in this g>gg>ene have been associated with cong>gg>enital insensitivity to pain, anhidrosis, self-mutilating>gg> behavior, cog>gg>nitive disability and cancer. Alternate transcriptional splice variants of this g>gg>ene have been found, but only three have been characterized to date. [provided by RefSeq, Jul 2008]

NTRK2 Gene

neurotrophic tyrosine kinase, g>receptorg>, type 2

This g>gg>ene encodes a member of the neurotrophic tyrosine g>receptorg> kinase (NTRK) family. This kinase is a membrane-bound g>receptorg> that, upon neurotrophin binding>gg>, phosphorylates itself and members of the MAPK pathway. Sig>gg>nalling>gg> throug>gg>h this kinase leads to cell differentiation. Mutations in this g>gg>ene have been associated with obesity and mood disorders. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, May 2014]

NTRK3 Gene

neurotrophic tyrosine kinase, g>receptorg>, type 3

This g>gg>ene encodes a member of the neurotrophic tyrosine g>receptorg> kinase (NTRK) family. This kinase is a membrane-bound g>receptorg> that, upon neurotrophin binding>gg>, phosphorylates itself and members of the MAPK pathway. Sig>gg>nalling>gg> throug>gg>h this kinase leads to cell differentiation and may play a role in the development of proprioceptive neurons that sense body position. Mutations in this g>gg>ene have been associated with medulloblastomas, secretory breast carcinomas and other cancers. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2011]

OR7E94P Gene

olfactory g>receptorg>, family 7, subfamily E, member 94 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

CSF2RBP1 Gene

colony stimulating>gg> factor 2 g>receptorg>, beta, low-affinity (g>gg>ranulocyte-macrophag>gg>e) pseudog>gg>ene 1

OR7E36P Gene

olfactory g>receptorg>, family 7, subfamily E, member 36 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR11P1P Gene

olfactory g>receptorg>, family 11, subfamily P, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR9A1P Gene

olfactory g>receptorg>, family 9, subfamily A, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5AL1 Gene

olfactory g>receptorg>, family 5, subfamily AL, member 1 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]

TRBV23-1 Gene

T cell g>receptorg> beta variable 23-1 (non-functional)

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be located in immunolog>gg>ical synapse. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PRLHR Gene

prolactin releasing>gg> hormone g>receptorg>

Predicted to enable neuropeptide binding>gg> activity and neuropeptide g>receptorg> activity. Predicted to be involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway. Predicted to act upstream of or within feeding>gg> behavior and hormone metabolic process. Located in cilium. Implicated in hypertension. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100420955 Gene

scaveng>gg>er g>receptorg> class B, member 1 pseudog>gg>ene

TRAJ59 Gene

T cell g>receptorg> alpha joining>gg> 59 (non-functional)

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ52 Gene

T cell g>receptorg> alpha joining>gg> 52

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ53 Gene

T cell g>receptorg> alpha joining>gg> 53

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ50 Gene

T cell g>receptorg> alpha joining>gg> 50

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ51 Gene

T cell g>receptorg> alpha joining>gg> 51 (pseudog>gg>ene)

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ55 Gene

T cell g>receptorg> alpha joining>gg> 55 (pseudog>gg>ene)

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

g>Gg>OSR1 Gene

g>gg>olg>gg>i SNAP g>receptorg> complex member 1

This g>gg>ene encodes a trafficking>gg> membrane protein which transports proteins among>gg> the endoplasmic reticulum and the g>Gg>olg>gg>i and between g>Gg>olg>gg>i compartments. This protein is considered an essential component of the g>Gg>olg>gg>i SNAP g>receptorg> (SNARE) complex. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

TAS2R9 Gene

taste g>receptorg>, type 2, member 9

This g>gg>ene product belong>gg>s to the family of candidate taste g>receptorg>s that are members of the g>Gg>-g>protein-coupledg> g>receptorg> superfamily. These proteins are specifically expressed in the taste g>receptorg> cells of the tong>gg>ue and palate epithelia. They are org>gg>anized in the g>gg>enome in clusters and are g>gg>enetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This g>gg>ene maps to the taste g>receptorg> g>gg>ene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]

TAS2R7 Gene

taste g>receptorg>, type 2, member 7

This g>gg>ene product belong>gg>s to the family of candidate taste g>receptorg>s that are members of the g>Gg>-g>protein-coupledg> g>receptorg> superfamily. These proteins are specifically expressed in the taste g>receptorg> cells of the tong>gg>ue and palate epithelia. They are org>gg>anized in the g>gg>enome in clusters and are g>gg>enetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This g>gg>ene maps to the taste g>receptorg> g>gg>ene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]

TAS2R4 Gene

taste g>receptorg>, type 2, member 4

This g>gg>ene encodes a member of a family of candidate taste g>receptorg>s that are members of the g>Gg> g>protein-coupledg> g>receptorg> superfamily and that are specifically expressed by taste g>receptorg> cells of the tong>gg>ue and palate epithelia. These apparently intronless g>gg>enes encode a 7-transmembrane g>receptorg> protein, functioning>gg> as a bitter taste g>receptorg>. This g>gg>ene is clustered with another 3 candidate taste g>receptorg> g>gg>enes in chromosome 7 and is g>gg>enetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008]

TAS2R5 Gene

taste g>receptorg>, type 2, member 5

This g>gg>ene encodes a bitter taste g>receptorg>; bitter taste g>receptorg>s are members of the g>Gg> g>protein-coupledg> g>receptorg> superfamily and are specifically expressed by taste g>receptorg> cells of the tong>gg>ue and palate epithelia. Each of these apparently intronless taste g>receptorg> g>gg>enes encodes a 7-transmembrane g>receptorg> protein, functioning>gg> as a bitter taste g>receptorg>. This g>gg>ene is clustered with another 3 candidate taste g>receptorg> g>gg>enes on chromosome 7 and is g>gg>enetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008]

TAS2R3 Gene

taste g>receptorg>, type 2, member 3

This g>gg>ene encodes a member of a family of candidate taste g>receptorg>s that are members of the g>Gg> g>protein-coupledg> g>receptorg> superfamily and that are specifically expressed by taste g>receptorg> cells of the tong>gg>ue and palate epithelia. These apparently intronless taste g>receptorg> g>gg>enes encode a 7-transmembrane g>receptorg> protein, functioning>gg> as a bitter taste g>receptorg>. This g>gg>ene is clustered with another 3 candidate taste g>receptorg> g>gg>enes in chromosome 7 and is g>gg>enetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008]

OR52U1P Gene

olfactory g>receptorg>, family 52, subfamily U, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4g>Gg>6P Gene

olfactory g>receptorg>, family 4, subfamily g>Gg>, member 6 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

RARRES2P8 Gene

retinoic acid g>receptorg> responder (tazarotene induced) 2 pseudog>gg>ene 8

RARRES2P2 Gene

retinoic acid g>receptorg> responder (tazarotene induced) 2 pseudog>gg>ene 2

OR7E159P Gene

olfactory g>receptorg>, family 7, subfamily E, member 159 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

RARRES2P1 Gene

retinoic acid g>receptorg> responder (tazarotene induced) 2 pseudog>gg>ene 1

RARRES2P4 Gene

retinoic acid g>receptorg> responder (tazarotene induced) 2 pseudog>gg>ene 4

TRAV41 Gene

T cell g>receptorg> alpha variable 41

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAV40 Gene

T cell g>receptorg> alpha variable 40

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

OR6T1 Gene

olfactory g>receptorg>, family 6, subfamily T, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R41P Gene

vomeronasal 1 g>receptorg> 41 pseudog>gg>ene

OR5BL1P Gene

olfactory g>receptorg>, family 5, subfamily BL, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R58P Gene

vomeronasal 1 g>receptorg> 58 pseudog>gg>ene

SCARA3 Gene

scaveng>gg>er g>receptorg> class A, member 3

This g>gg>ene encodes a macrophag>gg>e scaveng>gg>er g>receptorg>-like protein. This protein has been shown to deplete reactive oxyg>gg>en species, and thus play an important role in protecting>gg> cells from oxidative stress. The expression of this g>gg>ene is induced by oxidative stress. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been described. [provided by RefSeq, Jul 2008]

SCARA5 Gene

scaveng>gg>er g>receptorg> class A, member 5

Predicted to enable ferritin g>receptorg> activity. Predicted to be involved in several processes, including>gg> intracellular iron ion homeostasis; iron ion transmembrane transport; and protein homotrimerization. Predicted to act upstream of or within cellular response to heat. Predicted to be located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FFAR2 Gene

free fatty acid g>receptorg> 2

This g>gg>ene encodes a member of the g>Gg>P40 family of g>Gg> g>protein-coupledg> g>receptorg>s that are clustered tog>gg>ether on chromosome 19. The encoded protein is a g>receptorg> for short chain free fatty acids and may be involved in the inflammatory response and in reg>gg>ulating>gg> lipid plasma levels. [provided by RefSeq, Apr 2009]

FFAR3 Gene

free fatty acid g>receptorg> 3

Enables g>Gg> g>protein-coupledg> g>receptorg> activity. Involved in adenylate cyclase-inhibiting>gg> g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway and cellular response to fatty acid. Located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ERBB2 Gene

erb-b2 g>receptorg> tyrosine kinase 2

This g>gg>ene encodes a member of the epidermal g>gg>rowth factor (Eg>Gg>F) g>receptorg> family of g>receptorg> tyrosine kinases. This protein has no lig>gg>and binding>gg> domain of its own and therefore cannot bind g>gg>rowth factors. However, it does bind tig>gg>htly to other lig>gg>and-bound Eg>Gg>F g>receptorg> family members to form a heterodimer, stabilizing>gg> lig>gg>and binding>gg> and enhancing>gg> kinase-mediated activation of downstream sig>gg>nalling>gg> pathways, such as those involving>gg> mitog>gg>en-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this g>gg>ene has been reported in numerous cancers, including>gg> breast and ovarian tumors. Alternative splicing>gg> results in several additional transcript variants, some encoding>gg> different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]

ERBB3 Gene

erb-b2 g>receptorg> tyrosine kinase 3

This g>gg>ene encodes a member of the epidermal g>gg>rowth factor g>receptorg> (Eg>Gg>FR) family of g>receptorg> tyrosine kinases. This membrane-bound protein has a neureg>gg>ulin binding>gg> domain but not an active kinase domain. It therefore can bind this lig>gg>and but not convey the sig>gg>nal into the cell throug>gg>h protein phosphorylation. However, it does form heterodimers with other Eg>Gg>F g>receptorg> family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this g>gg>ene and/or overexpression of its protein have been reported in numerous cancers, including>gg> prostate, bladder, and breast tumors. Alternate transcriptional splice variants encoding>gg> different isoforms have been characterized. One isoform lacks the intermembrane reg>gg>ion and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroug>gg>hly characterized. [provided by RefSeq, Jul 2008]

ERBB4 Gene

erb-b2 g>receptorg> tyrosine kinase 4

This g>gg>ene is a member of the Tyr protein kinase family and the epidermal g>gg>rowth factor g>receptorg> subfamily. It encodes a sing>gg>le-pass type I membrane protein with multiple cysteine rich domains, a transmembrane domain, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding>gg> site and a PDZ domain binding>gg> motif. The protein binds to and is activated by neureg>gg>ulins and other factors and induces a variety of cellular responses including>gg> mitog>gg>enesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic frag>gg>ment and an extracellular frag>gg>ment. Mutations in this g>gg>ene have been associated with cancer. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]

FPR1 Gene

formyl peptide g>receptorg> 1

This g>gg>ene encodes a g>Gg> g>protein-coupledg> g>receptorg> of mammalian phag>gg>ocytic cells that is a member of the g>Gg>-protein coupled g>receptorg> 1 family. The protein mediates the response of phag>gg>ocytic cells to invasion of the host by microorg>gg>anisms and is important in host defense and inflammation.[provided by RefSeq, Jul 2010]

FPR2 Gene

formyl peptide g>receptorg> 2

Enables amyloid-beta binding>gg> activity; scaveng>gg>er g>receptorg> binding>gg> activity; and sig>gg>naling>gg> g>receptorg> activity. Involved in several processes, including>gg> cellular response to amyloid-beta; positive reg>gg>ulation of ERK1 and ERK2 cascade; and reg>gg>ulation of defense response. Located in cytoplasm and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FPR3 Gene

formyl peptide g>receptorg> 3

Predicted to enable N-formyl peptide g>receptorg> activity and complement g>receptorg> activity. Predicted to be involved in several processes, including>gg> complement g>receptorg> mediated sig>gg>naling>gg> pathway; phospholipase C-activating>gg> g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway; and positive reg>gg>ulation of cytosolic calcium ion concentration. Predicted to act upstream of or within g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SSC4D Gene

scaveng>gg>er g>receptorg> cysteine rich family, 4 domains

The scaveng>gg>er g>receptorg> cysteine-rich (SRCR) superfamily is an ancient and hig>gg>hly conserved g>gg>roup of cell surface and/or secreted proteins, some of which are involved in the development of the immune system and the reg>gg>ulation of both innate and adaptive immune responses. g>Gg>roup B SRCR domains usually contain 8 reg>gg>ularly spaced cysteines that g>gg>ive rise to a well-defined intradomain disulfide-bond pattern.[supplied by OMIM, Apr 2004]

TAS2R36 Gene

taste g>receptorg>, type 2, member 36

Predicted to enable g>Gg> g>protein-coupledg> g>receptorg> activity and bitter taste g>receptorg> activity. Predicted to be involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway and detection of chemical stimulus involved in sensory perception of bitter taste. Predicted to be located in plasma membrane. Predicted to be active in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TAS2R37 Gene

taste g>receptorg>, type 2, member 37

TAS2R33 Gene

taste g>receptorg>, type 2, member 33

Predicted to enable g>Gg> g>protein-coupledg> g>receptorg> activity and bitter taste g>receptorg> activity. Predicted to be involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway and detection of chemical stimulus involved in sensory perception of bitter taste. Predicted to be located in plasma membrane. Predicted to be active in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TAS2R30 Gene

taste g>receptorg>, type 2, member 30

Enables bitter taste g>receptorg> activity. Involved in detection of chemical stimulus involved in sensory perception of bitter taste. Predicted to be located in plasma membrane. Predicted to be active in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TAS2R31 Gene

taste g>receptorg>, type 2, member 31

TAS2R44 belong>gg>s to the larg>gg>e TAS2R g>receptorg> family. TAS2Rs are expressed on the surface of taste g>receptorg> cells and mediate the perception of bitterness throug>gg>h a g>Gg> g>protein-coupledg> second messeng>gg>er pathway (Conte et al., 2002 [PubMed 12584440]). For further information on TAS2Rs, see MIM 604791.[supplied by OMIM, Mar 2009]

TAS2R38 Gene

taste g>receptorg>, type 2, member 38

This g>gg>ene encodes a seven-transmembrane g>Gg> g>protein-coupledg> g>receptorg> that controls the ability to taste g>gg>lucosinolates, a family of bitter-tasting>gg> compounds found in plants of the Brassica sp. Synthetic compounds phenylthiocarbamide (PTC) and 6-n-propylthiouracil (PROP) have been identified as lig>gg>ands for this g>receptorg> and have been used to test the g>gg>enetic diversity of this g>gg>ene. Althoug>gg>h several allelic forms of this g>gg>ene have been identified worldwide, there are two predominant common forms (taster and non-taster) found outside of Africa. These alleles differ at three nucleotide positions resulting>gg> in amino acid chang>gg>es in the protein (A49P, A262V, and V296I) with the amino acid combination PAV identifying>gg> the taster variant (and AVI identifying>gg> the non-taster variant). [provided by RefSeq, Oct 2009]

TAS2R39 Gene

taste g>receptorg>, type 2, member 39

The protein encoded by this g>gg>ene is a bitter taste g>receptorg> that detects g>gg>reen tea catechins, soy isoflavones, and theaflavins. The encoded protein is g>gg>ustducin-linked and may activate alpha g>gg>ustducin. This g>gg>ene is intronless. [provided by RefSeq, Dec 2015]

OR4A6P Gene

olfactory g>receptorg>, family 4, subfamily A, member 6 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2A25 Gene

olfactory g>receptorg>, family 2, subfamily A, member 25

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7E161P Gene

olfactory g>receptorg>, family 7, subfamily E, member 161 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100133315 Gene

transient g>receptorg> potential cation channel, subfamily C, member 2-like

Predicted to enable damag>gg>ed DNA binding>gg> activity. Predicted to be involved in sing>gg>le strand break repair. Located in chromosome and nucleolus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR9P1P Gene

olfactory g>receptorg>, family 9, subfamily P, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100418656 Gene

olfactory g>receptorg>, family 2, subfamily B, member 6 pseudog>gg>ene

LOC100418655 Gene

olfactory g>receptorg>, family 2, subfamily B, member 2 pseudog>gg>ene

LOC100418654 Gene

olfactory g>receptorg>, family 2, subfamily W, member 1 pseudog>gg>ene

LOC100418653 Gene

olfactory g>receptorg>, family 2, subfamily Y, member 1 pseudog>gg>ene

LOC100418659 Gene

olfactory g>receptorg>, family 2, subfamily W, member 1 pseudog>gg>ene

LOC100418658 Gene

olfactory g>receptorg>, family 2, subfamily W, member 1 pseudog>gg>ene

LOC100421929 Gene

olfactory g>receptorg>, family 7, subfamily E, member 24 pseudog>gg>ene

LOC100421927 Gene

olfactory g>receptorg>, family 7, subfamily E, member 24 pseudog>gg>ene

SPSB3 Gene

splA/ryanodine g>receptorg> domain and SOCS box containing>gg> 3

Enables ubiquitin-like lig>gg>ase-substrate adaptor activity. Involved in several processes, including>gg> neg>gg>ative reg>gg>ulation of cg>Gg>AS/STINg>Gg> sig>gg>naling>gg> pathway; neg>gg>ative reg>gg>ulation of epithelial to mesenchymal transition; and protein K48-linked ubiquitination. Part of Cul5-RINg>Gg> ubiquitin lig>gg>ase complex. Is active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SPSB2 Gene

splA/ryanodine g>receptorg> domain and SOCS box containing>gg> 2

This g>gg>ene encodes a member of a subfamily of proteins containing>gg> a central SPRY (repeats in splA and RyR) domain and a C-terminal suppressor of cytokine sig>gg>naling>gg> (SOCS) box. This protein plays a role in cell sig>gg>naling>gg>. This g>gg>ene is present in a g>gg>ene-rich cluster on chromosome 12p13 in the vicinity of the CD4 antig>gg>en and triosephosphate isomerase g>gg>enes. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Feb 2016]

SPSB1 Gene

splA/ryanodine g>receptorg> domain and SOCS box containing>gg> 1

Enables ubiquitin-like lig>gg>ase-substrate adaptor activity. Involved in protein ubiquitination and ubiquitin-dependent protein catabolic process. Located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR2BH1P Gene

olfactory g>receptorg>, family 2, subfamily BH, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2A1 Gene

olfactory g>receptorg>, family 2, subfamily A, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2A2 Gene

olfactory g>receptorg>, family 2, subfamily A, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2A5 Gene

olfactory g>receptorg>, family 2, subfamily A, member 5

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2A4 Gene

olfactory g>receptorg>, family 2, subfamily A, member 4

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2A7 Gene

olfactory g>receptorg>, family 2, subfamily A, member 7

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5BN2P Gene

olfactory g>receptorg>, family 5, subfamily BN, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R60P Gene

vomeronasal 1 g>receptorg> 60 pseudog>gg>ene

OR51J1 Gene

olfactory g>receptorg>, family 51, subfamily J, member 1 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]

OR10AD1 Gene

olfactory g>receptorg>, family 10, subfamily AD, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC105379760 Gene

olfactory g>receptorg> 7E24-like

TSHRL3 Gene

thyroid stimulating>gg> hormone g>receptorg>-like 3

TSHRL2 Gene

thyroid stimulating>gg> hormone g>receptorg>-like 2

OR5W1P Gene

olfactory g>receptorg>, family 5, subfamily W, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5H6 Gene

olfactory g>receptorg>, family 5, subfamily H, member 6 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]

OR5H1 Gene

olfactory g>receptorg>, family 5, subfamily H, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5H2 Gene

olfactory g>receptorg>, family 5, subfamily H, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5H8 Gene

olfactory g>receptorg>, family 5, subfamily H, member 8 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]

IL12RB1 Gene

interleukin 12 g>receptorg>, beta 1

The protein encoded by this g>gg>ene is a type I transmembrane protein that belong>gg>s to the hemopoietin g>receptorg> superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thoug>gg>ht to be a part of IL12 g>receptorg> complex. This protein forms a disulfide-linked olig>gg>omer, which is required for its IL12 binding>gg> activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of hig>gg>h-affinity IL12 binding>gg> sites and reconstitution of IL12 dependent sig>gg>naling>gg>. Mutations in this g>gg>ene impair the development of interleukin-17-producing>gg> T lymphocytes and result in increased susceptibility to mycobacterial and Salmonella infections. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Feb 2014]

IL12RB2 Gene

interleukin 12 g>receptorg>, beta 2

The protein encoded by this g>gg>ene is a type I transmembrane protein identified as a subunit of the interleukin 12 g>receptorg> complex. The coexpression of this and IL12RB1 proteins was shown to lead to the formation of hig>gg>h-affinity IL12 binding>gg> sites and reconstitution of IL12 dependent sig>gg>naling>gg>. The expression of this g>gg>ene is up-reg>gg>ulated by interferon g>gg>amma in Th1 cells, and plays a role in Th1 cell differentiation. The up-reg>gg>ulation of this g>gg>ene is found to be associated with a number of infectious diseases, such as Crohn's disease and leprosy, which is thoug>gg>ht to contribute to the inflammatory response and host defense. Several transcript variants encoding>gg> different isoforms and non-protein coding>gg> transcripts have been found for this g>gg>ene. [provided by RefSeq, Apr 2012]

OR4N2 Gene

olfactory g>receptorg>, family 4, subfamily N, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a seven-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Mar 2014]

OR4N4 Gene

olfactory g>receptorg>, family 4, subfamily N, member 4

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4N5 Gene

olfactory g>receptorg>, family 4, subfamily N, member 5

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

g>Gg>ABRB2 Gene

g>gg>amma-aminobutyric acid (g>Gg>ABA) A g>receptorg>, beta 2

The g>gg>amma-aminobutyric acid (g>Gg>ABA) A g>receptorg> is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This g>gg>ene encodes g>Gg>ABA A g>receptorg>, beta 2 subunit. It is mapped to chromosome 5q34 in a cluster comprised of g>gg>enes encoding>gg> alpha 1 and g>gg>amma 2 subunits of the g>Gg>ABA A g>receptorg>. Alternative splicing>gg> of this g>gg>ene g>gg>enerates 2 transcript variants, differing>gg> by a 114 bp insertion. [provided by RefSeq, Jul 2008]

OR2AI1P Gene

olfactory g>receptorg>, family 2, subfamily AI, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100422018 Gene

olfactory g>receptorg>, family 7, subfamily E, member 24 pseudog>gg>ene

LOC100422017 Gene

olfactory g>receptorg>, family 4, subfamily F, member 5 pseudog>gg>ene

LOC100422011 Gene

olfactory g>receptorg>, family 8, subfamily A, member 1 pseudog>gg>ene

LOC100422137 Gene

olfactory g>receptorg>, family 4, subfamily A, member 15 pseudog>gg>ene

LOC100422136 Gene

olfactory g>receptorg>, family 4, subfamily A, member 16 pseudog>gg>ene

OR4A45P Gene

olfactory g>receptorg>, family 4, subfamily A, member 45 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

IL15RA Gene

interleukin 15 g>receptorg>, alpha

This g>gg>ene encodes a cytokine g>receptorg> that specifically binds interleukin 15 (IL15) with hig>gg>h affinity. The g>receptorg>s of IL15 and IL2 share two subunits, IL2R beta and IL2R g>gg>amma. This forms the basis of many overlapping>gg> biolog>gg>ical activities of IL15 and IL2. The protein encoded by this g>gg>ene is structurally related to IL2R alpha, an additional IL2-specific alpha subunit necessary for hig>gg>h affinity IL2 binding>gg>. Unlike IL2RA, IL15RA is capable of binding>gg> IL15 with hig>gg>h affinity independent of other subunits, which sug>gg>g>gg>ests distinct roles between IL15 and IL2. This g>receptorg> is reported to enhance cell proliferation and expression of apoptosis inhibitor BCL2L1/BCL2-XL and BCL2. Multiple alternatively spliced transcript variants of this g>gg>ene have been reported.[provided by RefSeq, Apr 2010]

OR2T3 Gene

olfactory g>receptorg>, family 2, subfamily T, member 3

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

PTg>Gg>FRN Gene

prostag>gg>landin F2 g>receptorg> inhibitor

Predicted to be involved in myoblast fusion involved in skeletal muscle reg>gg>eneration. Predicted to act upstream of or within lipid droplet org>gg>anization. Located in cell surface. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

VN1R107P Gene

vomeronasal 1 g>receptorg> 107 pseudog>gg>ene

OR4K12P Gene

olfactory g>receptorg>, family 4, subfamily K, member 12 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

MTNR1B Gene

melatonin g>receptorg> 1B

This g>gg>ene encodes one of two hig>gg>h affinity forms of a g>receptorg> for melatonin, the primary hormone secreted by the pineal g>gg>land. This g>gg>ene product is an integ>gg>ral membrane protein that is a g>Gg>-protein coupled, 7-transmembrane g>receptorg>. It is found primarily in the retina and brain althoug>gg>h this detection requires RT-PCR. It is thoug>gg>ht to participate in lig>gg>ht-dependent functions in the retina and may be involved in the neurobiolog>gg>ical effects of melatonin. [provided by RefSeq, Jul 2008]

LOC100421061 Gene

hepatitis A virus cellular g>receptorg> 1 pseudog>gg>ene

MTNR1A Gene

melatonin g>receptorg> 1A

This g>gg>ene encodes one of two hig>gg>h affinity forms of a g>receptorg> for melatonin, the primary hormone secreted by the pineal g>gg>land. This g>receptorg> is a g>Gg>-protein coupled, 7-transmembrane g>receptorg> that is responsible for melatonin effects on mammalian circadian rhythm and reproductive alterations affected by day leng>gg>th. The g>receptorg> is an integ>gg>ral membrane protein that is readily detectable and localized to two specific reg>gg>ions of the brain. The hypothalamic suprachiasmatic nucleus appears to be involved in circadian rhythm while the hypophysial pars tuberalis may be responsible for the reproductive effects of melatonin. [provided by RefSeq, Jul 2008]

OR5B10P Gene

olfactory g>receptorg>, family 5, subfamily B, member 10 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2g>Gg>1P Gene

olfactory g>receptorg>, family 2, subfamily g>Gg>, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2L6P Gene

olfactory g>receptorg>, family 2, subfamily L, member 6 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR1F1 Gene

olfactory g>receptorg>, family 1, subfamily F, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100422081 Gene

olfactory g>receptorg>, family 4, subfamily E, member 2 pseudog>gg>ene

HAVCR1P1 Gene

hepatitis A virus cellular g>receptorg> 1 pseudog>gg>ene 1

TRAV1-1 Gene

T cell g>receptorg> alpha variable 1-1

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAV1-2 Gene

T cell g>receptorg> alpha variable 1-2

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

OR10R3P Gene

olfactory g>receptorg>, family 10, subfamily R, member 3 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

PTg>Gg>DR2 Gene

prostag>gg>landin D2 g>receptorg> 2

This g>gg>ene encodes a g>Gg>-g>protein-coupledg> g>receptorg> that is preferentially expressed in CD4+ effector T helper 2 (Th2) cells. This protein is a prostag>gg>landin D2 g>receptorg> that mediates the pro-inflammatory chemotaxis of eosinophils, basophils, and Th2 lymphocytes g>gg>enerated during>gg> allerg>gg>ic inflammation. Sing>gg>le nucleotide polymorphisms in the 3' UTR of this g>gg>ene have been associated with asthma susceptibility.[provided by RefSeq, Mar 2011]

LOC650866 Gene

transient g>receptorg> potential cation channel, subfamily C, member 6 pseudog>gg>ene

Fg>Gg>FRL1 Gene

fibroblast g>gg>rowth factor g>receptorg>-like 1

The protein encoded by this g>gg>ene is a member of the fibroblast g>gg>rowth factor g>receptorg> (Fg>Gg>FR) family, where amino acid sequence is hig>gg>hly conserved between members and throug>gg>hout evolution. Fg>Gg>FR family members differ from one another in their lig>gg>and affinities and tissue distribution. A full-leng>gg>th representative protein would consist of an extracellular reg>gg>ion, composed of three immunog>gg>lobulin-like domains, a sing>gg>le hydrophobic membrane-spanning>gg> seg>gg>ment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast g>gg>rowth factors, setting>gg> in motion a cascade of downstream sig>gg>nals, ultimately influencing>gg> mitog>gg>enesis and differentiation. A marked difference between this g>gg>ene product and the other family members is its lack of a cytoplasmic tyrosine kinase domain. The result is a transmembrane g>receptorg> that could interact with other family members and potentially inhibit sig>gg>naling>gg>. Multiple alternatively spliced transcript variants encoding>gg> the same isoform have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

CRLF2 Gene

cytokine g>receptorg>-like factor 2

This g>gg>ene encodes a member of the type I cytokine g>receptorg> family. The encoded protein is a g>receptorg> for thymic stromal lymphopoietin (TSLP). Tog>gg>ether with the interleukin 7 g>receptorg> (IL7R), the encoded protein and TSLP activate STAT3, STAT5, and JAK2 pathways, which control processes such as cell proliferation and development of the hematopoietic system. Rearrang>gg>ement of this g>gg>ene with immunog>gg>lobulin heavy chain g>gg>ene (Ig>Gg>H) on chromosome 14, or with P2Y purinoceptor 8 g>gg>ene (P2RY8) on the same X or Y chromosomes is associated with B-prog>gg>enitor acute lymphoblastic leukemia (ALL) and Down syndrome ALL. Alternatively spliced transcript variants have been found for this g>gg>ene. [provided by RefSeq, Sep 2014]

CRLF3 Gene

cytokine g>receptorg>-like factor 3

This g>gg>ene encodes a cytokine g>receptorg>-like factor that may neg>gg>atively reg>gg>ulate cell cycle prog>gg>ression at the g>Gg>0/g>Gg>1 phase. Studies of the related rat protein sug>gg>g>gg>est that it may reg>gg>ulate neuronal morpholog>gg>y and synaptic vesicle biog>gg>enesis. This g>gg>ene is one of several g>gg>enes located in the neurofibromatosis type I tumor suppressor reg>gg>ion on the q arm of chromosome 17, a reg>gg>ion that is subject to microdeletions, duplications, chromosomal breaks and rearrang>gg>ements. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants. Related pseudog>gg>enes have been identified on chromosomes 2 and 5. [provided by RefSeq, Aug>gg> 2012]

CRLF1 Gene

cytokine g>receptorg>-like factor 1

This g>gg>ene encodes a member of the cytokine type I g>receptorg> family. The protein forms a secreted complex with cardiotrophin-like cytokine factor 1 and acts on cells expressing>gg> ciliary neurotrophic factor g>receptorg>s. The complex can promote survival of neuronal cells. Mutations in this g>gg>ene result in Crisponi syndrome and cold-induced sweating>gg> syndrome. [provided by RefSeq, Oct 2009]

OR7E86P Gene

olfactory g>receptorg>, family 7, subfamily E, member 86 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR11M1P Gene

olfactory g>receptorg>, family 11, subfamily M, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

EDAR Gene

ectodysplasin A g>receptorg>

This g>gg>ene encodes a member of the tumor necrosis factor g>receptorg> family. The encoded transmembrane protein is a g>receptorg> for the soluble lig>gg>and ectodysplasin A, and can activate the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways. It is required for the development of hair, teeth, and other ectodermal derivatives. Mutations in this g>gg>ene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]

TNFRSF17 Gene

tumor necrosis factor g>receptorg> superfamily, member 17

The protein encoded by this g>gg>ene is a member of the TNF-g>receptorg> superfamily. This g>receptorg> is preferentially expressed in mature B lymphocytes, and may be important for B cell development and autoimmune response. This g>receptorg> has been shown to specifically bind to the tumor necrosis factor (lig>gg>and) superfamily, member 13b (TNFSF13B/TALL-1/BAFF), and to lead to NF-kappaB and MAPK8/JNK activation. This g>receptorg> also binds to various TRAF family members, and thus may transduce sig>gg>nals for cell survival and proliferation. [provided by RefSeq, Jul 2008]

TNFRSF14 Gene

tumor necrosis factor g>receptorg> superfamily, member 14

This g>gg>ene encodes a member of the TNF (tumor necrosis factor) g>receptorg> superfamily. The encoded protein functions in sig>gg>nal transduction pathways that activate inflammatory and inhibitory T-cell immune response. It binds herpes simplex virus (HSV) viral envelope g>gg>lycoprotein D (g>gg>D), mediating>gg> its entry into cells. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2014]

TNFRSF18 Gene

tumor necrosis factor g>receptorg> superfamily, member 18

This g>gg>ene encodes a member of the TNF-g>receptorg> superfamily. The encoded g>receptorg> has been shown to have increased expression upon T-cell activation, and it is thoug>gg>ht to play a key role in dominant immunolog>gg>ical self-tolerance maintained by CD25(+)CD4(+) reg>gg>ulatory T cells. Knockout studies in mice also sug>gg>g>gg>est the role of this g>receptorg> is in the reg>gg>ulation of CD3-driven T-cell activation and prog>gg>rammed cell death. Three alternatively spliced transcript variants of this g>gg>ene encoding>gg> distinct isoforms have been reported. [provided by RefSeq, Feb 2011]

TNFRSF19 Gene

tumor necrosis factor g>receptorg> superfamily, member 19

The protein encoded by this g>gg>ene is a member of the TNF-g>receptorg> superfamily. This g>receptorg> is hig>gg>hly expressed during>gg> embryonic development. It has been shown to interact with TRAF family members, and to activate JNK sig>gg>naling>gg> pathway when overexpressed in cells. This g>receptorg> is capable of inducing>gg> apoptosis by a caspase-independent mechanism, and it is thoug>gg>ht to play an essential role in embryonic development. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been described. [provided by RefSeq, Jul 2008]

TNFRSF1B Gene

tumor necrosis factor g>receptorg> superfamily, member 1B

The protein encoded by this g>gg>ene is a member of the TNF-g>receptorg> superfamily. This protein and TNF-g>receptorg> 1 form a heterocomplex that mediates the recruitment of two anti-apoptotic proteins, c-IAP1 and c-IAP2, which possess E3 ubiquitin lig>gg>ase activity. The function of IAPs in TNF-g>receptorg> sig>gg>nalling>gg> is unknown, however, c-IAP1 is thoug>gg>ht to potentiate TNF-induced apoptosis by the ubiquitination and deg>gg>radation of TNF-g>receptorg>-associated factor 2, which mediates anti-apoptotic sig>gg>nals. Knockout studies in mice also sug>gg>g>gg>est a role of this protein in protecting>gg> neurons from apoptosis by stimulating>gg> antioxidative pathways. [provided by RefSeq, Jul 2008]

TNFRSF1A Gene

tumor necrosis factor g>receptorg> superfamily, member 1A

This g>gg>ene encodes a member of the TNF g>receptorg> superfamily of proteins. The encoded g>receptorg> is found in membrane-bound and soluble forms that interact with membrane-bound and soluble forms, respectively, of its lig>gg>and, tumor necrosis factor alpha. Binding>gg> of membrane-bound tumor necrosis factor alpha to the membrane-bound g>receptorg> induces g>receptorg> trimerization and activation, which plays a role in cell survival, apoptosis, and inflammation. Proteolytic processing>gg> of the encoded g>receptorg> results in release of the soluble form of the g>receptorg>, which can interact with free tumor necrosis factor alpha to inhibit inflammation. Mutations in this g>gg>ene underlie tumor necrosis factor g>receptorg>-associated periodic syndrome (TRAPS), characterized by fever, abdominal pain and other features. Mutations in this g>gg>ene may also be associated with multiple sclerosis in human patients. [provided by RefSeq, Sep 2016]

VN2R2P Gene

vomeronasal 2 g>receptorg> 2 pseudog>gg>ene

OR2T32P Gene

olfactory g>receptorg>, family 2, subfamily T, member 32 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100421972 Gene

olfactory g>receptorg>, family 5, subfamily A, member 2 pseudog>gg>ene

CCR6 Gene

chemokine (C-C motif) g>receptorg> 6

This g>gg>ene encodes a member of the beta chemokine g>receptorg> family, which is predicted to be a seven transmembrane protein similar to g>Gg> g>protein-coupledg> g>receptorg>s. The g>gg>ene is preferentially expressed by immature dendritic cells and memory T cells. The lig>gg>and of this g>receptorg> is macrophag>gg>e inflammatory protein 3 alpha (MIP-3 alpha). This g>receptorg> has been shown to be important for B-lineag>gg>e maturation and antig>gg>en-driven B-cell differentiation, and it may reg>gg>ulate the mig>gg>ration and recruitment of dentritic and T cells during>gg> inflammatory and immunolog>gg>ical responses. Alternatively spliced transcript variants that encode the same protein have been described for this g>gg>ene. [provided by RefSeq, Jul 2008]

OR7C2 Gene

olfactory g>receptorg>, family 7, subfamily C, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7C1 Gene

olfactory g>receptorg>, family 7, subfamily C, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R80P Gene

vomeronasal 1 g>receptorg> 80 pseudog>gg>ene

VN1R11P Gene

vomeronasal 1 g>receptorg> 11 pseudog>gg>ene

OR6C3 Gene

olfactory g>receptorg>, family 6, subfamily C, member 3

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR6C2 Gene

olfactory g>receptorg>, family 6, subfamily C, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR6C1 Gene

olfactory g>receptorg>, family 6, subfamily C, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR6C6 Gene

olfactory g>receptorg>, family 6, subfamily C, member 6

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR6C4 Gene

olfactory g>receptorg>, family 6, subfamily C, member 4

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

g>Gg>HSR Gene

g>gg>rowth hormone secretag>gg>og>gg>ue g>receptorg>

This g>gg>ene encodes a member of the g>Gg>-protein coupled g>receptorg> family. The encoded protein may play a role in energ>gg>y homeostasis and reg>gg>ulation of body weig>gg>ht. Two identified transcript variants are expressed in several tissues and are evolutionary conserved in fish and swine. One transcript, 1a, excises an intron and encodes the functional protein; this protein is the g>receptorg> for the g>Gg>hrelin lig>gg>and and defines a neuroendocrine pathway for g>gg>rowth hormone release. The second transcript (1b) retains the intron and does not function as a g>receptorg> for g>Gg>hrelin; however, it may function to attenuate activity of isoform 1a. Mutations in this g>gg>ene are associated with autosomal idiopathic short stature.[provided by RefSeq, Apr 2010]

OR7E13P Gene

olfactory g>receptorg>, family 7, subfamily E, member 13 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7E28P Gene

olfactory g>receptorg>, family 7, subfamily E, member 28 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100418681 Gene

olfactory g>receptorg>, family 2, subfamily Y, member 1 pseudog>gg>ene

EPS15P1 Gene

epidermal g>gg>rowth factor g>receptorg> pathway substrate 15 pseudog>gg>ene 1

OR2J1 Gene

olfactory g>receptorg>, family 2, subfamily J, member 1 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]

LOC100129554 Gene

thyroid hormone g>receptorg> interactor 4 pseudog>gg>ene

OR10V7P Gene

olfactory g>receptorg>, family 10, subfamily V, member 7 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7A3P Gene

olfactory g>receptorg>, family 7, subfamily A, member 3 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC102723632 Gene

olfactory g>receptorg> 4S2-like

CD40 Gene

CD40 molecule, TNF g>receptorg> superfamily member 5

This g>gg>ene is a member of the TNF-g>receptorg> superfamily. The encoded protein is a g>receptorg> on antig>gg>en-presenting>gg> cells of the immune system and is essential for mediating>gg> a broad variety of immune and inflammatory responses including>gg> T cell-dependent immunog>gg>lobulin class switching>gg>, memory B cell development, and g>gg>erminal center formation. AT-hook transcription factor AKNA is reported to coordinately reg>gg>ulate the expression of this g>receptorg> and its lig>gg>and, which may be important for homotypic cell interactions. Adaptor protein TNFR2 interacts with this g>receptorg> and serves as a mediator of the sig>gg>nal transduction. The interaction of this g>receptorg> and its lig>gg>and is found to be necessary for amyloid-beta-induced microg>gg>lial activation, and thus is thoug>gg>ht to be an early event in Alzheimer disease pathog>gg>enesis. Mutations affecting>gg> this g>gg>ene are the cause of autosomal recessive hyper-Ig>gg>M immunodeficiency type 3 (HIg>Gg>M3). Multiple alternatively spliced transcript variants of this g>gg>ene encoding>gg> distinct isoforms have been reported. [provided by RefSeq, Nov 2014]

IL31RA Gene

interleukin 31 g>receptorg> A

The protein encoded by this g>gg>ene belong>gg>s to the type I cytokine g>receptorg> family. This g>receptorg>, with homolog>gg>y to g>gg>p130, is expressed on monocytes, and is involved in IL-31 sig>gg>naling>gg> via activation of STAT-3 and STAT-5. It functions either as a monomer, or as part of a g>receptorg> complex with oncostatin M g>receptorg> (OSMR). Several alternatively spliced transcript variants encoding>gg> different isoforms have been noted for this g>gg>ene.[provided by RefSeq, Jun 2011]

LOC105369139 Gene

killer cell immunog>gg>lobulin-like g>receptorg> 2DS3

OR5D2P Gene

olfactory g>receptorg>, family 5, subfamily D, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR8D4 Gene

olfactory g>receptorg>, family 8, subfamily D, member 4

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR8D1 Gene

olfactory g>receptorg>, family 8, subfamily D, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR8D2 Gene

olfactory g>receptorg>, family 8, subfamily D, member 2 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]

LOC100422166 Gene

olfactory g>receptorg>, family 4, subfamily A, member 16 pseudog>gg>ene

LOC100422160 Gene

olfactory g>receptorg>, family 56, subfamily B, member 4 pseudog>gg>ene

LOC100422161 Gene

olfactory g>receptorg>, family 52, subfamily N, member 2 pseudog>gg>ene

LOC100422163 Gene

olfactory g>receptorg>, family 52, subfamily E, member 4 pseudog>gg>ene

HTR5BP Gene

5-hydroxytryptamine (serotonin) g>receptorg> 5B, pseudog>gg>ene

LOC105369868 Gene

macrophag>gg>e mannose g>receptorg> 1-like

OR2Y1 Gene

olfactory g>receptorg>, family 2, subfamily Y, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7E130P Gene

olfactory g>receptorg>, family 7, subfamily E, member 130 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

FCg>Gg>R2B Gene

Fc frag>gg>ment of Ig>gg>g>Gg>, low affinity IIb, g>receptorg> (CD32)

The protein encoded by this g>gg>ene is a low affinity g>receptorg> for the Fc reg>gg>ion of immunog>gg>lobulin g>gg>amma complexes. The encoded protein is involved in the phag>gg>ocytosis of immune complexes and in the reg>gg>ulation of antibody production by B-cells. Variations in this g>gg>ene may increase susceptibilty to systemic lupus erythematosus (SLE). Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jun 2010]

FCg>Gg>R2C Gene

Fc frag>gg>ment of Ig>gg>g>Gg>, low affinity IIc, g>receptorg> for (CD32) (g>gg>ene/pseudog>gg>ene)

This g>gg>ene encodes one of three members of a family of low-affinity immunog>gg>lobulin g>gg>amma Fc g>receptorg>s found on the surface of many immune response cells. The encoded protein is a transmembrane g>gg>lycoprotein and may be involved in phag>gg>ocytosis and clearing>gg> of immune complexes. An allelic polymorphism in this g>gg>ene results in both coding>gg> and non-coding>gg> variants. [provided by RefSeq, Apr 2012]

FCg>Gg>R2A Gene

Fc frag>gg>ment of Ig>gg>g>Gg>, low affinity IIa, g>receptorg> (CD32)

This g>gg>ene encodes one member of a family of immunog>gg>lobulin Fc g>receptorg> g>gg>enes found on the surface of many immune response cells. The protein encoded by this g>gg>ene is a cell surface g>receptorg> found on phag>gg>ocytic cells such as macrophag>gg>es and neutrophils, and is involved in the process of phag>gg>ocytosis and clearing>gg> of immune complexes. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Oct 2008]

CALCR Gene

calcitonin g>receptorg>

This g>gg>ene encodes a hig>gg>h affinity g>receptorg> for the peptide hormone calcitonin and belong>gg>s to a subfamily of seven transmembrane-spanning>gg> g>Gg> g>protein-coupledg> g>receptorg>s. The encoded protein is involved in maintaining>gg> calcium homeostasis and in reg>gg>ulating>gg> osteoclast-mediated bone resorption. Polymorphisms in this g>gg>ene have been associated with variations in bone mineral density and onset of osteoporosis. Alternate splicing>gg> results in multiple transcript variants. [provided by RefSeq, Sep 2009]

VN1R35P Gene

vomeronasal 1 g>receptorg> 35 pseudog>gg>ene

OR5BM1P Gene

olfactory g>receptorg>, family 5, subfamily BM, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR51B5 Gene

olfactory g>receptorg>, family 51, subfamily B, member 5

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR51B4 Gene

olfactory g>receptorg>, family 51, subfamily B, member 4

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR51B6 Gene

olfactory g>receptorg>, family 51, subfamily B, member 6

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR51B2 Gene

olfactory g>receptorg>, family 51, subfamily B, member 2 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]

VN1R68P Gene

vomeronasal 1 g>receptorg> 68 pseudog>gg>ene

FCER2 Gene

Fc frag>gg>ment of Ig>gg>E, low affinity II, g>receptorg> for (CD23)

The protein encoded by this g>gg>ene is a B-cell specific antig>gg>en, and a low-affinity g>receptorg> for Ig>gg>E. It has essential roles in B cell g>gg>rowth and differentiation, and the reg>gg>ulation of Ig>gg>E production. This protein also exists as a soluble secreted form, then functioning>gg> as a potent mitog>gg>enic g>gg>rowth factor. Alternatively spliced transcript variants encoding>gg> different isoforms have been described for this g>gg>ene.[provided by RefSeq, Jul 2011]

OR52D1 Gene

olfactory g>receptorg>, family 52, subfamily D, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

AMHR2 Gene

anti-Mullerian hormone g>receptorg>, type II

This g>gg>ene encodes the g>receptorg> for the anti-Mullerian hormone (AMH) which, in addition to testosterone, results in male sex differentiation. AMH and testosterone are produced in the testes by different cells and have different effects. Testosterone promotes the development of male g>gg>enitalia while the binding>gg> of AMH to the encoded g>receptorg> prevents the development of the mullerian ducts into uterus and Fallopian tubes. Mutations in this g>gg>ene are associated with persistent Mullerian duct syndrome type II. Alternatively spliced transcript variants encoding>gg> different isoforms have been identified. [provided by RefSeq, Sep 2009]

NR1I3 Gene

nuclear g>receptorg> subfamily 1, g>gg>roup I, member 3

This g>gg>ene encodes a member of the nuclear g>receptorg> superfamily, and is a key reg>gg>ulator of xenobiotic and endobiotic metabolism. The protein binds to DNA as a monomer or a heterodimer with the retinoid X g>receptorg> and reg>gg>ulates the transcription of targ>gg>et g>gg>enes involved in drug>gg> metabolism and bilirubin clearance, such as cytochrome P450 family members. Unlike most nuclear g>receptorg>s, this transcriptional reg>gg>ulator is constitutively active in the absence of lig>gg>and but is reg>gg>ulated by both ag>gg>onists and inverse ag>gg>onists. Lig>gg>and binding>gg> results in translocation of this protein to the nucleus, where it activates or represses targ>gg>et g>gg>ene transcription. These lig>gg>ands include bilirubin, a variety of foreig>gg>n compounds, steroid hormones, and prescription drug>gg>s. In addition to drug>gg> metabolism, the CAR protein is also reported to reg>gg>ulate g>gg>enes involved in g>gg>lucose metabolism, lipid metabolism, cell proliferation, and circadian clock reg>gg>ulation. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2020]

NR1I2 Gene

nuclear g>receptorg> subfamily 1, g>gg>roup I, member 2

This g>gg>ene product belong>gg>s to the nuclear g>receptorg> superfamily, members of which are transcription factors characterized by a lig>gg>and-binding>gg> domain and a DNA-binding>gg> domain. The encoded protein is a transcriptional reg>gg>ulator of the cytochrome P450 g>gg>ene CYP3A4, binding>gg> to the response element of the CYP3A4 promoter as a heterodimer with the 9-cis retinoic acid g>receptorg> RXR. It is activated by a rang>gg>e of compounds that induce CYP3A4, including>gg> dexamethasone and rifampicin. Several alternatively spliced transcripts encoding>gg> different isoforms, some of which use non-AUg>Gg> (CUg>Gg>) translation initiation codon, have been described for this g>gg>ene. Additional transcript variants exist, however, they have not been fully characterized. [provided by RefSeq, Jul 2008]

OR4F3 Gene

olfactory g>receptorg>, family 4, subfamily F, member 3

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4F6 Gene

olfactory g>receptorg>, family 4, subfamily F, member 6

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4F4 Gene

olfactory g>receptorg>, family 4, subfamily F, member 4

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4F5 Gene

olfactory g>receptorg>, family 4, subfamily F, member 5

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5B21 Gene

olfactory g>receptorg>, family 5, subfamily B, member 21

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5AP1P Gene

olfactory g>receptorg>, family 5, subfamily AP, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2AT4 Gene

olfactory g>receptorg>, family 2, subfamily AT, member 4

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4K6P Gene

olfactory g>receptorg>, family 4, subfamily K, member 6 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR1N2 Gene

olfactory g>receptorg>, family 1, subfamily N, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR1N1 Gene

olfactory g>receptorg>, family 1, subfamily N, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2AT1P Gene

olfactory g>receptorg>, family 2, subfamily AT, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

IL17RB Gene

interleukin 17 g>receptorg> B

The protein encoded by this g>gg>ene is a cytokine g>receptorg>. This g>receptorg> specifically binds to IL17B and IL17E, but does not bind to IL17 and IL17C. This g>receptorg> has been shown to mediate the activation of NF-kappaB and the production of IL8 induced by IL17E. The expression of the rat counterpart of this g>gg>ene was found to be sig>gg>nificantly up-reg>gg>ulated during>gg> intestinal inflammation, which sug>gg>g>gg>ested the immunoreg>gg>ulatory activity of this g>receptorg>. [provided by RefSeq, Jul 2008]

IFNLR1 Gene

interferon, lambda g>receptorg> 1

The protein encoded by this g>gg>ene belong>gg>s to the class II cytokine g>receptorg> family. This protein forms a g>receptorg> complex with interleukine 10 g>receptorg>, beta (IL10RB). The g>receptorg> complex has been shown to interact with three closely related cytokines, including>gg> interleukin 28A (IL28A), interleukin 28B (IL28B), and interleukin 29 (IL29). The expression of all three cytokines can be induced by viral infection. The cells overexpressing>gg> this protein have been found to have enhanced responses to IL28A and IL29, but decreased response to IL28B. Three alternatively spliced transcript variants encoding>gg> distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

OR11A1 Gene

olfactory g>receptorg>, family 11, subfamily A, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7E117P Gene

olfactory g>receptorg>, family 7, subfamily E, member 117 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

Tg>Gg>FBR3L Gene

transforming>gg> g>gg>rowth factor, beta g>receptorg> III-like

Predicted to enable g>gg>lycosaminog>gg>lycan binding>gg> activity; transforming>gg> g>gg>rowth factor beta g>receptorg> activity; and type II transforming>gg> g>gg>rowth factor beta g>receptorg> binding>gg> activity. Predicted to contribute to transforming>gg> g>gg>rowth factor beta binding>gg> activity. Predicted to be involved in several processes, including>gg> epithelial to mesenchymal transition; reg>gg>ulation of transforming>gg> g>gg>rowth factor beta g>receptorg> sig>gg>naling>gg> pathway; and transforming>gg> g>gg>rowth factor beta g>receptorg> sig>gg>naling>gg> pathway. Predicted to be located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

VN1R52P Gene

vomeronasal 1 g>receptorg> 52 pseudog>gg>ene

OR7E41P Gene

olfactory g>receptorg>, family 7, subfamily E, member 41 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2A12 Gene

olfactory g>receptorg>, family 2, subfamily A, member 12

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2A14 Gene

olfactory g>receptorg>, family 2, subfamily A, member 14

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR52B1P Gene

olfactory g>receptorg>, family 52, subfamily B, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

S1PR3 Gene

sphing>gg>osine-1-phosphate g>receptorg> 3

This g>gg>ene encodes a member of the EDg>Gg> family of g>receptorg>s, which are g>Gg> g>protein-coupledg> g>receptorg>s. This protein has been identified as a functional g>receptorg> for sphing>gg>osine 1-phosphate and likely contributes to the reg>gg>ulation of ang>gg>iog>gg>enesis and vascular endothelial cell function. [provided by RefSeq, Jul 2008]

S1PR2 Gene

sphing>gg>osine-1-phosphate g>receptorg> 2

This g>gg>ene encodes a member of the g>Gg> g>protein-coupledg> g>receptorg>s, as well as the EDg>Gg> family of proteins. The encoded protein is a g>receptorg> for sphing>gg>osine 1-phosphate, which participates in cell proliferation, survival, and transcriptional activation. Defects in this g>gg>ene have been associated with cong>gg>enital profound deafness. [provided by RefSeq, Mar 2016]

S1PR1 Gene

sphing>gg>osine-1-phosphate g>receptorg> 1

The protein encoded by this g>gg>ene is structurally similar to g>Gg> g>protein-coupledg> g>receptorg>s and is hig>gg>hly expressed in endothelial cells. It binds the lig>gg>and sphing>gg>osine-1-phosphate with hig>gg>h affinity and hig>gg>h specificity, and sug>gg>g>gg>ested to be involved in the processes that reg>gg>ulate the differentiation of endothelial cells. Activation of this g>receptorg> induces cell-cell adhesion. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Mar 2016]

S1PR5 Gene

sphing>gg>osine-1-phosphate g>receptorg> 5

The lysosphing>gg>olipid sphing>gg>osine 1-phosphate (S1P) reg>gg>ulates cell proliferation, apoptosis, motility, and neurite retraction. Its actions may be both intracellular as a second messeng>gg>er and extracellular as a g>receptorg> lig>gg>and. S1P and the structurally related lysolipid mediator lysophosphatidic acid (LPA) sig>gg>nal cells throug>gg>h a set of g>Gg> g>protein-coupledg> g>receptorg>s known as EDg>Gg> g>receptorg>s. Some EDg>Gg> g>receptorg>s (e.g>gg>., EDg>Gg>1; MIM 601974) are S1P g>receptorg>s; others (e.g>gg>., EDg>Gg>2; MIM 602282) are LPA g>receptorg>s.[supplied by OMIM, Mar 2008]

S1PR4 Gene

sphing>gg>osine-1-phosphate g>receptorg> 4

This g>gg>ene is a member of the endothelial differentiation, g>Gg>-g>protein-coupledg> (EDg>Gg>)) g>receptorg> g>gg>ene family. EDg>Gg> g>receptorg>s bind lysophospholipids or lysosphing>gg>olipids as lig>gg>ands, and are involved in cell sig>gg>nalling>gg> in many different cell types. This EDg>Gg> g>receptorg> g>gg>ene is intronless and is specifically expressed in the lymphoid tissue. [provided by RefSeq, Jul 2008]

RER1 Gene

retention in endoplasmic reticulum sorting>gg> g>receptorg> 1

The protein encoded by this g>gg>ene is a multi-pass membrane protein that is localized to the g>gg>olg>gg>i apparatus. It is involved in the retention of endoplasmic reticulum (ER) membrane proteins in the ER and retrieval of ER membrane proteins from the early g>Gg>olg>gg>i compartment to facilitate g>gg>amma-secretase complex assembly. [provided by RefSeq, Oct 2009]

OR7E99P Gene

olfactory g>receptorg>, family 7, subfamily E, member 99 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TBL1XR1 Gene

transducin (beta)-like 1 X-linked g>receptorg> 1

This g>gg>ene is a member of the WD40 repeat-containing>gg> g>gg>ene family and shares sequence similarity with transducin (beta)-like 1X-linked (TBL1X). The protein encoded by this g>gg>ene is thoug>gg>ht to be a component of both nuclear g>receptorg> corepressor (N-CoR) and histone deacetylase 3 (HDAC 3) complexes, and is required for transcriptional activation by a variety of transcription factors. Mutations in these g>gg>ene have been associated with some autism spectrum disorders, and one finding>gg> sug>gg>g>gg>ests that haploinsufficiency of this g>gg>ene may be a cause of intellectual disability with dysmorphism. Mutations in this g>gg>ene as well as recurrent translocations involving>gg> this g>gg>ene have also been observed in some tumors. [provided by RefSeq, Mar 2016]

LOC102724468 Gene

olfactory g>receptorg> 4F3/4F16/4F29-like

OR7D11P Gene

olfactory g>receptorg>, family 7, subfamily D, member 11 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR11J2P Gene

olfactory g>receptorg>, family 11, subfamily J, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TLR2 Gene

toll-like g>receptorg> 2

The protein encoded by this g>gg>ene is a member of the Toll-like g>receptorg> (TLR) family which plays a fundamental role in pathog>gg>en recog>gg>nition and activation of innate immunity. TLRs are hig>gg>hly conserved from Drosophila to humans and share structural and functional similarities. This protein is a cell-surface protein that can form heterodimers with other TLR family members to recog>gg>nize conserved molecules derived from microorg>gg>anisms known as pathog>gg>en-associated molecular patterns (PAMPs). Activation of TLRs by PAMPs leads to an up-reg>gg>ulation of sig>gg>naling>gg> pathways to modulate the host's inflammatory response. This g>gg>ene is also thoug>gg>ht to promote apoptosis in response to bacterial lipoproteins. This g>gg>ene has been implicated in the pathog>gg>enesis of several autoimmune diseases. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jan 2016]

TLR3 Gene

toll-like g>receptorg> 3

The protein encoded by this g>gg>ene is a member of the Toll-like g>receptorg> (TLR) family which plays a fundamental role in pathog>gg>en recog>gg>nition and activation of innate immunity. TLRs are hig>gg>hly conserved from Drosophila to humans and share structural and functional similarities. They recog>gg>nize pathog>gg>en-associated molecular patterns (PAMPs) that are expressed on infectious ag>gg>ents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This g>receptorg> is most abundantly expressed in placenta and pancreas, and is restricted to the dendritic subpopulation of the leukocytes. It recog>gg>nizes dsRNA associated with viral infection, and induces the activation of NF-kappaB and the production of type I interferons. It thus plays a role in host defense ag>gg>ainst multiple viruses. [provided by RefSeq, Jul 2021]

TLR1 Gene

toll-like g>receptorg> 1

The protein encoded by this g>gg>ene is a member of the Toll-like g>receptorg> (TLR) family which plays a fundamental role in pathog>gg>en recog>gg>nition and activation of innate immunity. TLRs are hig>gg>hly conserved from Drosophila to humans and share structural and functional similarities. They recog>gg>nize pathog>gg>en-associated molecular patterns (PAMPs) that are expressed on infectious ag>gg>ents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This g>gg>ene is ubiquitously expressed, and at hig>gg>her levels than other TLR g>gg>enes. Different leng>gg>th transcripts presumably resulting>gg> from use of alternative polyadenylation site, and/or from alternative splicing>gg>, have been noted for this g>gg>ene. [provided by RefSeq, Jul 2008]

TLR6 Gene

toll-like g>receptorg> 6

The protein encoded by this g>gg>ene is a member of the Toll-like g>receptorg> (TLR) family which plays a fundamental role in pathog>gg>en recog>gg>nition and activation of innate immunity. TLRs are hig>gg>hly conserved from Drosophila to humans and share structural and functional similarities. They recog>gg>nize pathog>gg>en-associated molecular patterns (PAMPs) that are expressed on infectious ag>gg>ents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This g>receptorg> functionally interacts with toll-like g>receptorg> 2 to mediate cellular response to bacterial lipoproteins. A Ser249Pro polymorphism in the extracellular domain of the encoded protein may be associated with an increased of asthma is some populations.[provided by RefSeq, Jan 2011]

TLR7 Gene

toll-like g>receptorg> 7

The protein encoded by this g>gg>ene is a member of the Toll-like g>receptorg> (TLR) family which plays a fundamental role in pathog>gg>en recog>gg>nition and activation of innate immunity. TLRs are hig>gg>hly conserved from Drosophila to humans and share structural and functional similarities. The human TLR family comprises 11 members. They recog>gg>nize pathog>gg>en-associated molecular patterns (PAMPs) that are expressed on infectious ag>gg>ents, and mediate the production of cytokines necessary for the development of effective immunity. For the recog>gg>nition of structural components in foreig>gg>n microorg>gg>anisms, the various TLRs exhibit different patterns of expression as well; in this way for example, TLR-3, -7, and -8 are essential in the recog>gg>nition of sing>gg>le-stranded RNA viruses. TLR7 senses sing>gg>le-stranded RNA olig>gg>onucleotides containing>gg> g>gg>uanosine- and uridine-rich sequences from RNA viruses, a recog>gg>nition occuring>gg> in the endosomes of plasmacytoid dendritic cells and B cells. This g>gg>ene is predominantly expressed in lung>gg>, placenta, and spleen, and is phylog>gg>enetically related and lies in close proximity to another family member, TLR8, on chromosome X. [provided by RefSeq, Aug>gg> 2020]

TLR4 Gene

toll-like g>receptorg> 4

The protein encoded by this g>gg>ene is a member of the Toll-like g>receptorg> (TLR) family which plays a fundamental role in pathog>gg>en recog>gg>nition and activation of innate immunity. TLRs are hig>gg>hly conserved from Drosophila to humans and share structural and functional similarities. They recog>gg>nize pathog>gg>en-associated molecular patterns that are expressed on infectious ag>gg>ents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. In silico studies have found a particularly strong>gg> binding>gg> of surface TLR4 with the spike protein of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the causative ag>gg>ent of Coronavirus disease-2019 (COVID-19). This g>receptorg> has also been implicated in sig>gg>nal transduction events induced by lipopolysaccharide (LPS) found in most g>gg>ram-neg>gg>ative bacteria. Mutations in this g>gg>ene have been associated with differences in LPS responsiveness, and with susceptibility to ag>gg>e-related macular deg>gg>eneration. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Aug>gg> 2020]

TLR5 Gene

toll-like g>receptorg> 5

This g>gg>ene encodes a member of the toll-like g>receptorg> (TLR) family, which plays a fundamental role in pathog>gg>en recog>gg>nition and activation of innate immune responses. These g>receptorg>s recog>gg>nize distinct pathog>gg>en-associated molecular patterns that are expressed on infectious ag>gg>ents. The protein encoded by this g>gg>ene recog>gg>nizes bacterial flag>gg>ellin, the principal component of bacterial flag>gg>ella and a virulence factor. The activation of this g>receptorg> mobilizes the nuclear factor NF-kappaB, which in turn activates a host of inflammatory-related targ>gg>et g>gg>enes. Mutations in this g>gg>ene have been associated with both resistance and susceptibility to systemic lupus erythematosus, and susceptibility to Leg>gg>ionnaire disease.[provided by RefSeq, Dec 2009]

TLR8 Gene

toll-like g>receptorg> 8

The protein encoded by this g>gg>ene is a member of the Toll-like g>receptorg> (TLR) family which plays a fundamental role in pathog>gg>en recog>gg>nition and activation of innate immunity. TLRs are hig>gg>hly conserved from Drosophila to humans and share structural and functional similarities. They recog>gg>nize pathog>gg>en-associated molecular patterns (PAMPs) that are expressed on infectious ag>gg>ents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This g>gg>ene is predominantly expressed in lung>gg> and peripheral blood leukocytes, and lies in close proximity to another family member, TLR7, on chromosome X. [provided by RefSeq, Jul 2008]

TLR9 Gene

toll-like g>receptorg> 9

The protein encoded by this g>gg>ene is a member of the Toll-like g>receptorg> (TLR) family, which plays a fundamental role in pathog>gg>en recog>gg>nition and activation of innate immunity. TLRs are hig>gg>hly conserved from Drosophila to humans and share structural and functional similarities. They recog>gg>nize pathog>gg>en-associated molecular patterns (PAMPs) that are expressed on infectious ag>gg>ents, and mediate the production of cytokines necessary for the development of effective immunity. Studies in mice and human indicate that this g>receptorg> mediates cellular response to unmethylated Cpg>Gg> dinucleotides in bacterial DNA to mount an innate immune response. [provided by RefSeq, Aug>gg> 2017]

VN1R21P Gene

vomeronasal 1 g>receptorg> 21 pseudog>gg>ene

VN1R45P Gene

vomeronasal 1 g>receptorg> 45 pseudog>gg>ene

IL27RA Gene

interleukin 27 g>receptorg>, alpha

In mice, CD4+ helper T-cells differentiate into type 1 (Th1) cells, which are critical for cell-mediated immunity, predominantly under the influence of IL12. Also, IL4 influences their differentiation into type 2 (Th2) cells, which are critical for most antibody responses. Mice deficient in these cytokines, their g>receptorg>s, or associated transcription factors have impaired, but are not absent of, Th1 or Th2 immune responses. This g>gg>ene encodes a protein which is similar to the mouse T-cell cytokine g>receptorg> Tccr at the amino acid level, and is predicted to be a g>gg>lycosylated transmembrane protein. [provided by RefSeq, Jul 2008]

ERRFI1 Gene

ERBB g>receptorg> feedback inhibitor 1

ERRFI1 is a cytoplasmic protein whose expression is upreg>gg>ulated with cell g>gg>rowth (Wick et al., 1995 [PubMed 7641805]). It shares sig>gg>nificant homolog>gg>y with the protein product of rat g>gg>ene-33, which is induced during>gg> cell stress and mediates cell sig>gg>naling>gg> (Makkinje et al., 2000 [PubMed 10749885]; Fiorentino et al., 2000 [PubMed 11003669]).[supplied by OMIM, Mar 2008]

OR7E121P Gene

olfactory g>receptorg>, family 7, subfamily E, member 121 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7E5P Gene

olfactory g>receptorg>, family 7, subfamily E, member 5 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This family member is believed to be a pseudog>gg>ene. [provided by RefSeq, Jun 2009]

OR6L2P Gene

olfactory g>receptorg>, family 6, subfamily L, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TAS2R15P Gene

taste g>receptorg>, type 2, member 15, pseudog>gg>ene

OR6K3 Gene

olfactory g>receptorg>, family 6, subfamily K, member 3

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR6K2 Gene

olfactory g>receptorg>, family 6, subfamily K, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR6K6 Gene

olfactory g>receptorg>, family 6, subfamily K, member 6

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R19P Gene

vomeronasal 1 g>receptorg> 19 pseudog>gg>ene

TRBV27 Gene

T cell g>receptorg> beta variable 27

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>HRHR Gene

g>gg>rowth hormone releasing>gg> hormone g>receptorg>

This g>gg>ene encodes a g>receptorg> for g>gg>rowth hormone-releasing>gg> hormone. Binding>gg> of this hormone to the g>receptorg> leads to synthesis and release of g>gg>rowth hormone. Mutations in this g>gg>ene have been associated with isolated g>gg>rowth hormone deficiency (Ig>Gg>HD), also known as Dwarfism of Sindh, a disorder characterized by short stature. [provided by RefSeq, Jun 2010]

OR5AK4P Gene

olfactory g>receptorg>, family 5, subfamily AK, member 4 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

ARNT Gene

aryl hydrocarbon g>receptorg> nuclear translocator

This g>gg>ene encodes a protein containing>gg> a basic helix-loop-helix domain and two characteristic PAS domains along>gg> with a PAC domain. The encoded protein binds to lig>gg>and-bound aryl hydrocarbon g>receptorg> and aids in the movement of this complex to the nucleus, where it promotes the expression of g>gg>enes involved in xenobiotic metabolism. This protein is also a co-factor for transcriptional reg>gg>ulation by hypoxia-inducible factor 1. Chromosomal translocation of this locus with the ETV6 (ets variant 6) g>gg>ene on chromosome 12 have been described in leukemias. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Oct 2013]

CUBNP2 Gene

cubilin (intrinsic factor-cobalamin g>receptorg>) pseudog>gg>ene 2

CUBNP3 Gene

cubilin (intrinsic factor-cobalamin g>receptorg>) pseudog>gg>ene 3

CUBNP1 Gene

cubilin (intrinsic factor-cobalamin g>receptorg>) pseudog>gg>ene 1

TRAV38-1 Gene

T cell g>receptorg> alpha variable 38-1

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

OR5g>Gg>1P Gene

olfactory g>receptorg>, family 5, subfamily g>Gg>, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRBV3-2 Gene

T cell g>receptorg> beta variable 3-2 (pseudog>gg>ene)

ESR2 Gene

estrog>gg>en g>receptorg> 2 (ER beta)

This g>gg>ene encodes a member of the family of estrog>gg>en g>receptorg>s and superfamily of nuclear g>receptorg> transcription factors. The g>gg>ene product contains an N-terminal DNA binding>gg> domain and C-terminal lig>gg>and binding>gg> domain and is localized to the nucleus, cytoplasm, and mitochondria. Upon binding>gg> to 17beta-estradiol or related lig>gg>ands, the encoded protein forms homo- or hetero-dimers that interact with specific DNA sequences to activate transcription. Some isoforms dominantly inhibit the activity of other estrog>gg>en g>receptorg> family members. Several alternatively spliced transcript variants of this g>gg>ene have been described, but the full-leng>gg>th nature of some of these variants has not been fully characterized. [provided by RefSeq, Jul 2008]

ESR1 Gene

estrog>gg>en g>receptorg> 1

This g>gg>ene encodes an estrog>gg>en g>receptorg> and lig>gg>and-activated transcription factor. The canonical protein contains an N-terminal lig>gg>and-independent transactivation domain, a central DNA binding>gg> domain, a hing>gg>e domain, and a C-terminal lig>gg>and-dependent transactivation domain. The protein localizes to the nucleus where it may form either a homodimer or a heterodimer with estrog>gg>en g>receptorg> 2. The protein encoded by this g>gg>ene reg>gg>ulates the transcription of many estrog>gg>en-inducible g>gg>enes that play a role in g>gg>rowth, metabolism, sexual development, g>gg>estation, and other reproductive functions and is expressed in many non-reproductive tissues. The g>receptorg> encoded by this g>gg>ene plays a key role in breast cancer, endometrial cancer, and osteoporosis. This g>gg>ene is reported to have dozens of transcript variants due to the use of alternate promoters and alternative splicing>gg>, however, the full-leng>gg>th nature of many of these variants remain uncertain. [provided by RefSeq, Jul 2020]

KLRF2 Gene

killer cell lectin-like g>receptorg> subfamily F, member 2

Enables protein homodimerization activity. Predicted to be involved in natural killer cell deg>gg>ranulation and positive reg>gg>ulation of cytokine production. Predicted to act upstream of or within natural killer cell activation and positive reg>gg>ulation of natural killer cell mediated cytotoxicity. Located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KLRF1 Gene

killer cell lectin-like g>receptorg> subfamily F, member 1

KLRF1, an activating>gg> homodimeric C-type lectin-like g>receptorg> (CTLR), is expressed on nearly all natural killer (NK) cells and stimulates their cytoxicity and cytokine release (Kuttruff et al., 2009 [PubMed 18922855]).[supplied by OMIM, Oct 2009]

FAS Gene

Fas cell surface death g>receptorg>

The protein encoded by this g>gg>ene is a member of the TNF-g>receptorg> superfamily. This g>receptorg> contains a death domain. It has been shown to play a central role in the physiolog>gg>ical reg>gg>ulation of prog>gg>rammed cell death, and has been implicated in the pathog>gg>enesis of various malig>gg>nancies and diseases of the immune system. The interaction of this g>receptorg> with its lig>gg>and allows the formation of a death-inducing>gg> sig>gg>naling>gg> complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing>gg> of the caspases in the complex trig>gg>g>gg>ers a downstream caspase cascade, and leads to apoptosis. This g>receptorg> has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing>gg> the proliferating>gg> sig>gg>nals in normal diploid fibroblast and T cells. Several alternatively spliced transcript variants have been described, some of which are candidates for nonsense-mediated mRNA decay (NMD). The isoforms lacking>gg> the transmembrane domain may neg>gg>atively reg>gg>ulate the apoptosis mediated by the full leng>gg>th isoform. [provided by RefSeq, Mar 2011]

OR51A9P Gene

olfactory g>receptorg>, family 51, subfamily A, member 9 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

g>Gg>LP2R Gene

g>gg>lucag>gg>on-like peptide 2 g>receptorg>

This g>gg>ene encodes a g>Gg> g>protein-coupledg> g>receptorg> that is closely related to the g>gg>lucag>gg>on g>receptorg> and binds to g>gg>lucag>gg>on-like peptide-2 (g>Gg>LP2). Sig>gg>nalling>gg> throug>gg>h g>Gg>LP2 stimulates intestinal g>gg>rowth and increases villus heig>gg>ht in the small intestine, concomitant with increased crypt cell proliferation and decreased enterocyte apoptosis. [provided by RefSeq, Dec 2014]

AR Gene

androg>gg>en g>receptorg>

The androg>gg>en g>receptorg> g>gg>ene is more than 90 kb long>gg> and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding>gg> domain, and androg>gg>en-binding>gg> domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding>gg> the hormone lig>gg>and, the g>receptorg> dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androg>gg>en responsive g>gg>enes. This g>gg>ene contains 2 polymorphic trinucleotide repeat seg>gg>ments that encode polyg>gg>lutamine and polyg>gg>lycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyg>gg>lutamine tract from the normal 9-34 repeats to the pathog>gg>enic 38-62 repeats causes spinal bulbar muscular atrophy (SBMA, also known as Kennedy's disease). Mutations in this g>gg>ene are also associated with complete androg>gg>en insensitivity (CAIS). Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Jan 2017]

OR2M1P Gene

olfactory g>receptorg>, family 2, subfamily M, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR8K4P Gene

olfactory g>receptorg>, family 8, subfamily K, member 4 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2L5 Gene

olfactory g>receptorg>, family 2, subfamily L, member 5

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2L2 Gene

olfactory g>receptorg>, family 2, subfamily L, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2L8 Gene

olfactory g>receptorg>, family 2, subfamily L, member 8 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]

OR56B3P Gene

olfactory g>receptorg>, family 56, subfamily B, member 3 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R70P Gene

vomeronasal 1 g>receptorg> 70 pseudog>gg>ene

TLR12P Gene

toll-like g>receptorg> 12, pseudog>gg>ene

Predicted to act upstream of or within defense response to protozoan. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC102723532 Gene

olfactory g>receptorg> 4N4

OR5M2P Gene

olfactory g>receptorg>, family 5, subfamily M, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LEPROTL1 Gene

leptin g>receptorg> overlapping>gg> transcript-like 1

Enables identical protein binding>gg> activity. Predicted to be involved in late endosome to vacuole transport via multivesicular body sorting>gg> pathway and neg>gg>ative reg>gg>ulation of g>gg>rowth hormone g>receptorg> sig>gg>naling>gg> pathway. Predicted to be located in membrane. Predicted to be active in endosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR8Q1P Gene

olfactory g>receptorg>, family 8, subfamily Q, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LENg>Gg>1 Gene

leukocyte g>receptorg> cluster (LRC) member 1

Predicted to be located in nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LENg>Gg>9 Gene

leukocyte g>receptorg> cluster (LRC) member 9

Predicted to enable metal ion binding>gg> activity. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LENg>Gg>8 Gene

leukocyte g>receptorg> cluster (LRC) member 8

Predicted to be part of protein-containing>gg> complex. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR4Q3 Gene

olfactory g>receptorg>, family 4, subfamily Q, member 3

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4Q2 Gene

olfactory g>receptorg>, family 4, subfamily Q, member 2 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]

TRBV12-4 Gene

T cell g>receptorg> beta variable 12-4

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV12-5 Gene

T cell g>receptorg> beta variable 12-5

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV12-1 Gene

T cell g>receptorg> beta variable 12-1 (pseudog>gg>ene)

TRBV12-2 Gene

T cell g>receptorg> beta variable 12-2 (pseudog>gg>ene)

Predicted to be involved in immune system process. Predicted to be located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV12-3 Gene

T cell g>receptorg> beta variable 12-3

Predicted to enable MHC protein binding>gg> activity and peptide antig>gg>en binding>gg> activity. Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR2A9P Gene

olfactory g>receptorg>, family 2, subfamily A, member 9 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R25P Gene

vomeronasal 1 g>receptorg> 25 pseudog>gg>ene

OR6K5P Gene

olfactory g>receptorg>, family 6, subfamily K, member 5 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR52M2P Gene

olfactory g>receptorg>, family 52, subfamily M, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

CCR1 Gene

chemokine (C-C motif) g>receptorg> 1

This g>gg>ene encodes a member of the beta chemokine g>receptorg> family, which is predicted to be a seven transmembrane protein similar to g>Gg> g>protein-coupledg> g>receptorg>s. The lig>gg>ands of this g>receptorg> include macrophag>gg>e inflammatory protein 1 alpha (MIP-1 alpha), reg>gg>ulated on activation normal T expressed and secreted protein (RANTES), monocyte chemoattractant protein 3 (MCP-3), and myeloid prog>gg>enitor inhibitory factor-1 (MPIF-1). Chemokines and their g>receptorg>s mediated sig>gg>nal transduction are critical for the recruitment of effector immune cells to the site of inflammation. Knockout studies of the mouse homolog>gg> sug>gg>g>gg>ested the roles of this g>gg>ene in host protection from inflammatory response, and susceptibility to virus and parasite. This g>gg>ene and other chemokine g>receptorg> g>gg>enes, including>gg> CCR2, CCRL2, CCR3, CCR5 and CCXCR1, are found to form a g>gg>ene cluster on chromosome 3p. [provided by RefSeq, Jul 2008]

CCR2 Gene

chemokine (C-C motif) g>receptorg> 2

The protein encoded by this g>gg>ene is a g>receptorg> for monocyte chemoattractant protein-1, a chemokine which specifically mediates monocyte chemotaxis. Monocyte chemoattractant protein-1 is involved in monocyte infiltration in inflammatory diseases such as rheumatoid arthritis as well as in the inflammatory response ag>gg>ainst tumors. The encoded protein mediates ag>gg>onist-dependent calcium mobilization and inhibition of adenylyl cyclase. This protein can also be a cog>receptorg> with CD4 for HIV-1 infection. This g>gg>ene is located in the chemokine g>receptorg> g>gg>ene cluster reg>gg>ion of chromosome 3. [provided by RefSeq, Aug>gg> 2017]

CCR3 Gene

chemokine (C-C motif) g>receptorg> 3

The protein encoded by this g>gg>ene is a g>receptorg> for C-C type chemokines. It belong>gg>s to family 1 of the g>Gg> g>protein-coupledg> g>receptorg>s. This g>receptorg> binds and responds to a variety of chemokines, including>gg> eotaxin (CCL11), eotaxin-3 (CCL26), MCP-3 (CCL7), MCP-4 (CCL13), and RANTES (CCL5). It is hig>gg>hly expressed in eosinophils and basophils, and is also detected in TH1 and TH2 cells, as well as in airway epithelial cells. This g>receptorg> may contribute to the accumulation and activation of eosinophils and other inflammatory cells in the allerg>gg>ic airway. It is also known to be an entry co-g>receptorg> for HIV-1. This g>gg>ene and seven other chemokine g>receptorg> g>gg>enes form a chemokine g>receptorg> g>gg>ene cluster on the chromosomal reg>gg>ion 3p21. Alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2009]

CCR4 Gene

chemokine (C-C motif) g>receptorg> 4

The protein encoded by this g>gg>ene belong>gg>s to the g>Gg>-g>protein-coupledg> g>receptorg> family . It is a g>receptorg> for the CC chemokine - MIP-1, RANTES, TARC and MCP-1. Chemokines are a g>gg>roup of small polypeptide, structurally related molecules that reg>gg>ulate cell trafficking>gg> of various types of leukocytes. The chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in ang>gg>iog>gg>enesis or ang>gg>iostasis. [provided by RefSeq, Jul 2008]

CCR5 Gene

chemokine (C-C motif) g>receptorg> 5 (g>gg>ene/pseudog>gg>ene)

This g>gg>ene encodes a member of the beta chemokine g>receptorg> family, which is predicted to be a seven transmembrane protein similar to g>Gg> g>protein-coupledg> g>receptorg>s. This protein is expressed by T cells and macrophag>gg>es, and is known to be an important co-g>receptorg> for macrophag>gg>e-tropic virus, including>gg> HIV, to enter host cells. Defective alleles of this g>gg>ene have been associated with the HIV infection resistance. The lig>gg>ands of this g>receptorg> include monocyte chemoattractant protein 2 (MCP-2), macrophag>gg>e inflammatory protein 1 alpha (MIP-1 alpha), macrophag>gg>e inflammatory protein 1 beta (MIP-1 beta) and reg>gg>ulated on activation normal T expressed and secreted protein (RANTES). Expression of this g>gg>ene was also detected in a promyeloblastic cell line, sug>gg>g>gg>esting>gg> that this protein may play a role in g>gg>ranulocyte lineag>gg>e proliferation and differentiation. This g>gg>ene is located at the chemokine g>receptorg> g>gg>ene cluster reg>gg>ion. An allelic polymorphism in this g>gg>ene results in both functional and non-functional alleles; the reference g>gg>enome represents the functional allele. Two transcript variants encoding>gg> the same protein have been found for this g>gg>ene. [provided by RefSeq, Jul 2015]

CCR7 Gene

chemokine (C-C motif) g>receptorg> 7

The protein encoded by this g>gg>ene is a member of the g>Gg> g>protein-coupledg> g>receptorg> family. This g>receptorg> was identified as a g>gg>ene induced by the Epstein-Barr virus (EBV), and is thoug>gg>ht to be a mediator of EBV effects on B lymphocytes. This g>receptorg> is expressed in various lymphoid tissues and activates B and T lymphocytes. It has been shown to control the mig>gg>ration of memory T cells to inflamed tissues, as well as stimulate dendritic cell maturation. The chemokine (C-C motif) lig>gg>and 19 (CCL19/ECL) has been reported to be a specific lig>gg>and of this g>receptorg>. Sig>gg>nals mediated by this g>receptorg> reg>gg>ulate T cell homeostasis in lymph nodes, and may also function in the activation and polarization of T cells, and in chronic inflammation pathog>gg>enesis. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants. [provided by RefSeq, Sep 2014]

CCR8 Gene

chemokine (C-C motif) g>receptorg> 8

This g>gg>ene encodes a member of the beta chemokine g>receptorg> family, which is predicted to be a seven transmembrane protein similar to g>Gg> g>protein-coupledg> g>receptorg>s. Chemokines and their g>receptorg>s are important for the mig>gg>ration of various cell types into the inflammatory sites. This g>receptorg> protein preferentially expresses in the thymus. I-309, thymus activation-reg>gg>ulated cytokine (TARC) and macrophag>gg>e inflammatory protein-1 beta (MIP-1 beta) have been identified as lig>gg>ands of this g>receptorg>. Studies of this g>receptorg> and its lig>gg>ands sug>gg>g>gg>ested its role in reg>gg>ulation of monocyte chemotaxis and thymic cell apoptosis. More specifically, this g>receptorg> may contribute to the proper positioning>gg> of activated T cells within the antig>gg>enic challeng>gg>e sites and specialized areas of lymphoid tissues. This g>gg>ene is located at the chemokine g>receptorg> g>gg>ene cluster reg>gg>ion. [provided by RefSeq, Jul 2008]

CCR9 Gene

chemokine (C-C motif) g>receptorg> 9

The protein encoded by this g>gg>ene is a g>Gg> g>protein-coupledg> g>receptorg> with seven transmembrane domains that belong>gg>s to the beta chemokine g>receptorg> family. Chemokines and their g>receptorg>s are key reg>gg>ulators of thymocyte mig>gg>ration and maturation in normal and inflammation conditions. This g>gg>ene is differentially expressed in T lymphocytes of the small intestine and colon, and its interaction with chemokine 25 contributes to intestinal intra-epithelial lymphocyte homing>gg> to the small intestine. This sug>gg>g>gg>ests a role for this g>gg>ene in directing>gg> immune responses to different seg>gg>ments of the g>gg>astrointestinal tract. This g>gg>ene and its exclusive lig>gg>and, chemokine 25, are overexpressed in a variety of malig>gg>nant tumors and are closely associated with tumor proliferation, apoptosis, invasion, mig>gg>ration and drug>gg> resistance. This g>gg>ene maps to the chemokine g>receptorg> g>gg>ene cluster. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Aug>gg> 2020]

OR7E29P Gene

olfactory g>receptorg>, family 7, subfamily E, member 29 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2U2P Gene

olfactory g>receptorg>, family 2, subfamily U, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7E91P Gene

olfactory g>receptorg>, family 7, subfamily E, member 91 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC102724390 Gene

D(1B) dopamine g>receptorg>-like

NR0B2 Gene

nuclear g>receptorg> subfamily 0, g>gg>roup B, member 2

The protein encoded by this g>gg>ene is an unusual orphan g>receptorg> that contains a putative lig>gg>and-binding>gg> domain but lacks a conventional DNA-binding>gg> domain. The g>gg>ene product is a member of the nuclear hormone g>receptorg> family, a g>gg>roup of transcription factors reg>gg>ulated by small hydrophobic hormones, a subset of which do not have known lig>gg>ands and are referred to as orphan nuclear g>receptorg>s. The protein has been shown to interact with retinoid and thyroid hormone g>receptorg>s, inhibiting>gg> their lig>gg>and-dependent transcriptional activation. In addition, interaction with estrog>gg>en g>receptorg>s has been demonstrated, leading>gg> to inhibition of function. Studies sug>gg>g>gg>est that the protein represses nuclear hormone g>receptorg>-mediated transactivation via two separate steps: competition with coactivators and the direct effects of its transcriptional repressor function. [provided by RefSeq, Jul 2008]

NR0B1 Gene

nuclear g>receptorg> subfamily 0, g>gg>roup B, member 1

This g>gg>ene encodes a protein that contains a DNA-binding>gg> domain. The encoded protein acts as a dominant-neg>gg>ative reg>gg>ulator of transcription which is mediated by the retinoic acid g>receptorg>. This protein also functions as an anti-testis g>gg>ene by acting>gg> antag>gg>onistically to Sry. Mutations in this g>gg>ene result in both X-linked cong>gg>enital adrenal hypoplasia and hypog>gg>onadotropic hypog>gg>onadism. [provided by RefSeq, Jul 2008]

CNTFR Gene

ciliary neurotrophic factor g>receptorg>

This g>gg>ene encodes a member of the type 1 cytokine g>receptorg> family. The encoded protein is the lig>gg>and-specific component of a tripartite g>receptorg> for ciliary neurotrophic factor, which plays a critical role in neuronal cell survival, differentiation and g>gg>ene expression. Binding>gg> of ciliary neurotrophic factor to the encoded protein recruits the transmembrane components of the g>receptorg>, g>gg>p130 and leukemia inhibitory factor g>receptorg>, facilitating>gg> sig>gg>nal transduction. Sing>gg>le nucleotide polymorphisms in this g>gg>ene may be associated with variations in muscle streng>gg>th, as well as early onset of eating>gg> disorders. Alternatively spliced transcript variants have been observed for this g>gg>ene. [provided by RefSeq, May 2011]

TACR3 Gene

tachykinin g>receptorg> 3

This g>gg>ene belong>gg>s to a family of g>gg>enes that function as g>receptorg>s for tachykinins. g>Receptorg> affinities are specified by variations in the 5'-end of the sequence. The g>receptorg>s belong>gg>ing>gg> to this family are characterized by interactions with g>Gg> proteins and 7 hydrophobic transmembrane reg>gg>ions. This g>gg>ene encodes the g>receptorg> for the tachykinin neurokinin 3, also referred to as neurokinin B. [provided by RefSeq, Jul 2008]

TACR2 Gene

tachykinin g>receptorg> 2

This g>gg>ene belong>gg>s to a family of g>gg>enes that function as g>receptorg>s for tachykinins. g>Receptorg> affinities are specified by variations in the 5'-end of the sequence. The g>receptorg>s belong>gg>ing>gg> to this family are characterized by interactions with g>Gg> proteins and 7 hydrophobic transmembrane reg>gg>ions. This g>gg>ene encodes the g>receptorg> for the tachykinin neuropeptide substance K, also referred to as neurokinin A. [provided by RefSeq, Jul 2008]

TACR1 Gene

tachykinin g>receptorg> 1

This g>gg>ene belong>gg>s to a g>gg>ene family of tachykinin g>receptorg>s. These tachykinin g>receptorg>s are characterized by interactions with g>Gg> proteins and contain seven hydrophobic transmembrane reg>gg>ions. This g>gg>ene encodes the g>receptorg> for the tachykinin substance P, also referred to as neurokinin 1. The encoded protein is also involved in the mediation of phosphatidylinositol metabolism of substance P. [provided by RefSeq, Sep 2008]

TAS2R2P Gene

taste g>receptorg>, type 2, member 2, pseudog>gg>ene

Enables bitter taste g>receptorg> activity. Predicted to be involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway and detection of chemical stimulus involved in sensory perception of bitter taste. Located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR10K2 Gene

olfactory g>receptorg>, family 10, subfamily K, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10K1 Gene

olfactory g>receptorg>, family 10, subfamily K, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

KIR3DP1 Gene

killer cell immunog>gg>lobulin-like g>receptorg>, three domains, pseudog>gg>ene 1

Killer cell immunog>gg>lobulin-like g>receptorg>s (KIRs) are transmembrane g>gg>lycoproteins expressed by natural killer cells and subsets of T cells. The KIR g>gg>enes are polymorphic and hig>gg>hly homolog>gg>ous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte g>receptorg> complex (LRC). The g>gg>ene content of the KIR g>gg>ene cluster varies among>gg> haplotypes, althoug>gg>h several `framework` g>gg>enes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunog>gg>lobulin domains (2D or 3D) and by whether they have a long>gg> (L) or short (S) cytoplasmic domain. KIR proteins with the long>gg> cytoplasmic domain transduce inhibitory sig>gg>nals upon lig>gg>and binding>gg> via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding>gg> protein to transduce activating>gg> sig>gg>nals. The lig>gg>ands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thoug>gg>ht to play an important role in reg>gg>ulation of the immune response. This g>gg>ene is one of the `framework` loci that is present on all haplotypes. This g>gg>ene is considered to be a pseudog>gg>ene based on the absence of transcription and it lacks several functional domains compared to other killer cell immunog>gg>lobulin-like g>receptorg>s. A rare haplotype, the result of a recombinantion event, has two copies of this g>gg>ene, one of which may encode a secreted protein. (PMID: 15580659)[provided by RefSeq, Mar 2011]

C1DP1 Gene

C1D nuclear g>receptorg> corepressor pseudog>gg>ene 1

C1DP3 Gene

C1D nuclear g>receptorg> corepressor pseudog>gg>ene 3

LOC100421898 Gene

olfactory g>receptorg>, family 2, subfamily A, member 5 pseudog>gg>ene

OR4H12P Gene

olfactory g>receptorg>, family 4, subfamily H, member 12 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4A18P Gene

olfactory g>receptorg>, family 4, subfamily A, member 18 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4A4P Gene

olfactory g>receptorg>, family 4, subfamily A, member 4 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR6S1 Gene

olfactory g>receptorg>, family 6, subfamily S, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR8I1P Gene

olfactory g>receptorg>, family 8, subfamily I, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

Og>Gg>FRP1 Gene

opioid g>gg>rowth factor g>receptorg> pseudog>gg>ene 1

OR7E89P Gene

olfactory g>receptorg>, family 7, subfamily E, member 89 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

IL1R2 Gene

interleukin 1 g>receptorg>, type II

The protein encoded by this g>gg>ene is a cytokine g>receptorg> that belong>gg>s to the interleukin 1 g>receptorg> family. This protein binds interleukin alpha (IL1A), interleukin beta (IL1B), and interleukin 1 g>receptorg>, type I(IL1R1/IL1RA), and acts as a decoy g>receptorg> that inhibits the activity of its lig>gg>ands. Interleukin 4 (IL4) is reported to antag>gg>onize the activity of interleukin 1 by inducing>gg> the expression and release of this cytokine. This g>gg>ene and three other g>gg>enes form a cytokine g>receptorg> g>gg>ene cluster on chromosome 2q12. Alternative splicing>gg> results in multiple transcript variants and protein isoforms. Alternative splicing>gg> produces both membrane-bound and soluble proteins. A soluble protein is also produced by proteolytic cleavag>gg>e. [provided by RefSeq, May 2012]

IL1R1 Gene

interleukin 1 g>receptorg>, type I

This g>gg>ene encodes a cytokine g>receptorg> that belong>gg>s to the interleukin-1 g>receptorg> family. The encoded protein is a g>receptorg> for interleukin-1 alpha, interleukin-1 beta, and interleukin-1 g>receptorg> antag>gg>onist. It is an important mediator involved in many cytokine-induced immune and inflammatory responses. This g>gg>ene is located in a cluster of related cytokine g>receptorg> g>gg>enes on chromosome 2q12. [provided by RefSeq, Dec 2013]

ITPR2 Gene

inositol 1,4,5-trisphosphate g>receptorg>, type 2

The protein encoded by this g>gg>ene belong>gg>s to the inositol 1,4,5-triphosphate g>receptorg> family, whose members are second messeng>gg>er intracellular calcium release channels. These proteins mediate a rise in cytoplasmic calcium in response to g>receptorg> activated production of inositol triphosphate. Inositol triphosphate g>receptorg>-mediated sig>gg>naling>gg> is involved in many processes including>gg> cell mig>gg>ration, cell division, smooth muscle contraction, and neuronal sig>gg>naling>gg>. This protein is a type 2 g>receptorg> that consists of a cytoplasmic amino-terminus that binds inositol triphosphate, six membrane-spanning>gg> helices that contribute to the ion pore, and a short cytoplasmic carboxy-terminus. A mutation in this g>gg>ene has been associated with anhidrosis, sug>gg>g>gg>esting>gg> that intracellular calcium release mediated by this protein is required for eccrine sweat production. [provided by RefSeq, Apr 2015]

ITPR3 Gene

inositol 1,4,5-trisphosphate g>receptorg>, type 3

This g>gg>ene encodes a g>receptorg> for inositol 1,4,5-trisphosphate, a second messeng>gg>er that mediates the release of intracellular calcium. The g>receptorg> contains a calcium channel at the C-terminus and the lig>gg>and-binding>gg> site at the N-terminus. Knockout studies in mice sug>gg>g>gg>est that type 2 and type 3 inositol 1,4,5-trisphosphate g>receptorg>s play a key role in exocrine secretion underlying>gg> energ>gg>y metabolism and g>gg>rowth. [provided by RefSeq, Aug>gg> 2010]

ITPR1 Gene

inositol 1,4,5-trisphosphate g>receptorg>, type 1

This g>gg>ene encodes an intracellular g>receptorg> for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this g>receptorg> mediates calcium release from the endoplasmic reticulum. Mutations in this g>gg>ene cause spinocerebellar ataxia type 15, a disease associated with an heterog>gg>eneous g>gg>roup of cerebellar disorders. Multiple transcript variants have been identified for this g>gg>ene. [provided by RefSeq, Nov 2009]

IL1RN Gene

interleukin 1 g>receptorg> antag>gg>onist

The protein encoded by this g>gg>ene is a member of the interleukin 1 cytokine family. This protein inhibits the activities of interleukin 1, alpha (IL1A) and interleukin 1, beta (IL1B), and modulates a variety of interleukin 1 related immune and inflammatory responses, particularly in the acute phase of infection and inflammation. This g>gg>ene and five other closely related cytokine g>gg>enes form a g>gg>ene cluster spanning>gg> approximately 400 kb on chromosome 2. A polymorphism of this g>gg>ene is reported to be associated with increased risk of osteoporotic fractures and g>gg>astric cancer. Several alternatively spliced transcript variants encoding>gg> distinct isoforms have been reported. [provided by RefSeq, Aug>gg> 2020]

Pg>Gg>RMC2 Gene

prog>gg>esterone g>receptorg> membrane component 2

Enables heme binding>gg> activity. Involved in adipose tissue development. Located in endoplasmic reticulum and nuclear envelope. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

Pg>Gg>RMC1 Gene

prog>gg>esterone g>receptorg> membrane component 1

This g>gg>ene encodes a putative membrane-associated prog>gg>esterone steroid g>receptorg>. The protein is expressed predominantly in the liver and kidney. [provided by RefSeq, Mar 2010]

OR4A43P Gene

olfactory g>receptorg>, family 4, subfamily A, member 43 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TARM1 Gene

T cell-interacting>gg>, activating>gg> g>receptorg> on myeloid cells 1

Enables immunog>gg>lobulin g>receptorg> binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of CD4-positive, alpha-beta T cell activation. Located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

Ig>Gg>F1R Gene

insulin-like g>gg>rowth factor 1 g>receptorg>

This g>receptorg> binds insulin-like g>gg>rowth factor with a hig>gg>h affinity. It has tyrosine kinase activity. The insulin-like g>gg>rowth factor I g>receptorg> plays a critical role in transformation events. Cleavag>gg>e of the precursor g>gg>enerates alpha and beta subunits. It is hig>gg>hly overexpressed in most malig>gg>nant tissues where it functions as an anti-apoptotic ag>gg>ent by enhancing>gg> cell survival. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been found for this g>gg>ene. [provided by RefSeq, May 2014]

IL7R Gene

interleukin 7 g>receptorg>

The protein encoded by this g>gg>ene is a g>receptorg> for interleukin 7 (IL7). The function of this g>receptorg> requires the interleukin 2 g>receptorg>, g>gg>amma chain (IL2Rg>Gg>), which is a common g>gg>amma chain shared by the g>receptorg>s of various cytokines, including>gg> interleukins 2, 4, 7, 9, and 15. This protein has been shown to play a critical role in V(D)J recombination during>gg> lymphocyte development. Defects in this g>gg>ene may be associated with severe combined immunodeficiency (SCID). Alternatively spliced transcript variants have been found. [provided by RefSeq, Dec 2015]

OR51A1P Gene

olfactory g>receptorg>, family 51, subfamily A, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100421910 Gene

olfactory g>receptorg>, family 5, subfamily R, member 1 pseudog>gg>ene

LOC100421911 Gene

olfactory g>receptorg>, family 1, subfamily M, member 1 pseudog>gg>ene

LOC100421912 Gene

olfactory g>receptorg>, family 1, subfamily N, member 1 pseudog>gg>ene

LOC100421913 Gene

olfactory g>receptorg>, family 2, subfamily B, member 2 pseudog>gg>ene

TRBV9 Gene

T cell g>receptorg> beta variable 9

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV2 Gene

T cell g>receptorg> beta variable 2

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRBV1 Gene

T cell g>receptorg> beta variable 1 (pseudog>gg>ene)

ADIPOR1P1 Gene

adiponectin g>receptorg> 1 pseudog>gg>ene 1

ADIPOR1P2 Gene

adiponectin g>receptorg> 1 pseudog>gg>ene 2

VN1R108P Gene

vomeronasal 1 g>receptorg> 108 pseudog>gg>ene

LOC100419170 Gene

toll-like g>receptorg> 2 pseudog>gg>ene

TRIP10 Gene

thyroid hormone g>receptorg> interactor 10

Enables identical protein binding>gg> activity. Predicted to be involved in actin cytoskeleton org>gg>anization and sig>gg>nal transduction. Located in nucleoplasm. Biomarker of Hunting>gg>ton's disease. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRIP11 Gene

thyroid hormone g>receptorg> interactor 11

This g>gg>ene was identified based on the interaction of its protein product with thyroid hormone g>receptorg> beta. This protein is associated with the g>Gg>olg>gg>i apparatus. The N-terminal reg>gg>ion of the protein binds g>Gg>olg>gg>i membranes and the C-terminal reg>gg>ion binds the minus ends of microtubules; thus, the protein is thoug>gg>ht to play a role in assembly and maintenance of the g>Gg>olg>gg>i ribbon structure around the centrosome. Mutations in this g>gg>ene cause achondrog>gg>enesis type IA.[provided by RefSeq, Mar 2010]

TRIP12 Gene

thyroid hormone g>receptorg> interactor 12

The protein encoded by this g>gg>ene is an E3 ubiquitin-protein lig>gg>ase involved in the deg>gg>radation of the p19ARF/ARF isoform of CDKN2A, a tumor suppressor. The encoded protein also plays a role in the DNA damag>gg>e response by reg>gg>ulating>gg> the stability of USP7, which reg>gg>ulates tumor suppressor p53. [provided by RefSeq, Jan 2017]

TRIP13 Gene

thyroid hormone g>receptorg> interactor 13

This g>gg>ene encodes a protein that interacts with thyroid hormone g>receptorg>s, also known as hormone-dependent transcription factors. The g>gg>ene product interacts specifically with the lig>gg>and binding>gg> domain. This g>gg>ene is one of several that may play a role in early-stag>gg>e non-small cell lung>gg> cancer. [provided by RefSeq, Oct 2009]

TRBVC Gene

T cell g>receptorg> beta variable C

TRBVB Gene

T cell g>receptorg> beta variable B (pseudog>gg>ene)

TRBVA Gene

T cell g>receptorg> beta variable A (pseudog>gg>ene)

OR2D2 Gene

olfactory g>receptorg>, family 2, subfamily D, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2D3 Gene

olfactory g>receptorg>, family 2, subfamily D, member 3

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TAS1R1 Gene

taste g>receptorg>, type 1, member 1

The protein encoded by this g>gg>ene is a g>Gg> g>protein-coupledg> g>receptorg> and is a component of the heterodimeric amino acid taste g>receptorg> T1R1+3. The T1R1+3 g>receptorg> responds to L-amino acids but not to D-enantiomers or other compounds. Most amino acids that are perceived as sweet activate T1R1+3, and this activation is strictly dependent on an intact T1R1+3 heterodimer. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jun 2010]

TAS1R3 Gene

taste g>receptorg>, type 1, member 3

The protein encoded by this g>gg>ene is a g>Gg>-protein coupled g>receptorg> involved in taste responses. The encoded protein can form a heterodimeric g>receptorg> with TAS1R1 to elicit the umami taste response, or it can bind with TAS1R2 to form a g>receptorg> for the sweet taste response. [provided by RefSeq, Nov 2015]

TAS1R2 Gene

taste g>receptorg>, type 1, member 2

Contributes to sweet taste g>receptorg> activity. Involved in detection of chemical stimulus involved in sensory perception of sweet taste and positive reg>gg>ulation of cytokinesis. Part of sweet taste g>receptorg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR7E100P Gene

olfactory g>receptorg>, family 7, subfamily E, member 100 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN2R15P Gene

vomeronasal 2 g>receptorg> 15 pseudog>gg>ene

VN1R63P Gene

vomeronasal 1 g>receptorg> 63 pseudog>gg>ene

OR51F5P Gene

olfactory g>receptorg>, family 51, subfamily F, member 5 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10Ag>Gg>1 Gene

olfactory g>receptorg>, family 10, subfamily Ag>Gg>, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR52M1 Gene

olfactory g>receptorg>, family 52, subfamily M, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR56A7P Gene

olfactory g>receptorg>, family 56, subfamily A, member 7 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR13H1 Gene

olfactory g>receptorg>, family 13, subfamily H, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2L13 Gene

olfactory g>receptorg>, family 2, subfamily L, member 13

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7E162P Gene

olfactory g>receptorg>, family 7, subfamily E, member 162 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2L1P Gene

olfactory g>receptorg>, family 2, subfamily L, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LTK Gene

leukocyte g>receptorg> tyrosine kinase

The protein encoded by this g>gg>ene is a member of the ros/insulin g>receptorg> family of tyrosine kinases. Tyrosine-specific phosphorylation of proteins is a key to the control of diverse pathways leading>gg> to cell g>gg>rowth and differentiation. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Oct 2008]

LOC100422165 Gene

olfactory g>receptorg>, family 4, subfamily A, member 15 pseudog>gg>ene

OR7E33P Gene

olfactory g>receptorg>, family 7, subfamily E, member 33 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100422162 Gene

olfactory g>receptorg>, family 52, subfamily E, member 4 pseudog>gg>ene

LOC100422168 Gene

olfactory g>receptorg>, family 4, subfamily C, member 46 pseudog>gg>ene

OR8A2P Gene

olfactory g>receptorg>, family 8, subfamily A, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10C1 Gene

olfactory g>receptorg>, family 10, subfamily C, member 1 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]

OR5F2P Gene

olfactory g>receptorg>, family 5, subfamily F, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100271717 Gene

natural cytotoxicity trig>gg>g>gg>ering>gg> g>receptorg> 1 pseudog>gg>ene

KDR Gene

kinase insert domain g>receptorg>

Vascular endothelial g>gg>rowth factor (VEg>Gg>F) is a major g>gg>rowth factor for endothelial cells. This g>gg>ene encodes one of the two g>receptorg>s of the VEg>Gg>F. This g>receptorg>, known as kinase insert domain g>receptorg>, is a type III g>receptorg> tyrosine kinase. It functions as the main mediator of VEg>Gg>F-induced endothelial proliferation, survival, mig>gg>ration, tubular morphog>gg>enesis and sprouting>gg>. The sig>gg>nalling>gg> and trafficking>gg> of this g>receptorg> are reg>gg>ulated by multiple factors, including>gg> Rab g>Gg>TPase, P2Y purine nucleotide g>receptorg>, integ>gg>rin alphaVbeta3, T-cell protein tyrosine phosphatase, etc.. Mutations of this g>gg>ene are implicated in infantile capillary hemang>gg>iomas. [provided by RefSeq, May 2009]

LOC100418642 Gene

olfactory g>receptorg>, family 2, subfamily B, member 6 pseudog>gg>ene

OR4A10P Gene

olfactory g>receptorg>, family 4, subfamily A, member 10 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100418648 Gene

olfactory g>receptorg>, family 2, subfamily Y, member 1 pseudog>gg>ene

TRAV34 Gene

T cell g>receptorg> alpha variable 34

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAV35 Gene

T cell g>receptorg> alpha variable 35

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAV37 Gene

T cell g>receptorg> alpha variable 37 (pseudog>gg>ene)

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAV30 Gene

T cell g>receptorg> alpha variable 30

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAV32 Gene

T cell g>receptorg> alpha variable 32 (pseudog>gg>ene)

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAV33 Gene

T cell g>receptorg> alpha variable 33 (pseudog>gg>ene)

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

OR4F13P Gene

olfactory g>receptorg>, family 4, subfamily F, member 13 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRAV39 Gene

T cell g>receptorg> alpha variable 39

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

MRC2 Gene

mannose g>receptorg>, C type 2

This g>gg>ene encodes a member of the mannose g>receptorg> family of proteins that contain a fibronectin type II domain and multiple C-type lectin-like domains. The encoded protein plays a role in extracellular matrix remodeling>gg> by mediating>gg> the internalization and lysosomal deg>gg>radation of collag>gg>en lig>gg>ands. Expression of this g>gg>ene may play a role in the tumorig>gg>enesis and metastasis of several malig>gg>nancies including>gg> breast cancer, g>gg>liomas and metastatic bone disease. [provided by RefSeq, Feb 2012]

VN1R44P Gene

vomeronasal 1 g>receptorg> 44 pseudog>gg>ene

OR5AK1P Gene

olfactory g>receptorg>, family 5, subfamily AK, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR51B8P Gene

olfactory g>receptorg>, family 51, subfamily B, member 8 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

PILRA Gene

paired immunog>gg>lobin-like type 2 g>receptorg> alpha

Cell sig>gg>naling>gg> pathways rely on a dynamic interaction between activating>gg> and inhibiting>gg> processes. SHP-1-mediated dephosphorylation of protein tyrosine residues is central to the reg>gg>ulation of several cell sig>gg>naling>gg> pathways. Two types of inhibitory g>receptorg> superfamily members are immunog>receptorg> tyrosine-based inhibitory motif (ITIM)-bearing>gg> g>receptorg>s and their non-ITIM-bearing>gg>, activating>gg> counterparts. Control of cell sig>gg>naling>gg> via SHP-1 is thoug>gg>ht to occur throug>gg>h a balance between PILRalpha-mediated inhibition and PILRbeta-mediated activation. These paired immunog>gg>lobulin-like g>receptorg> g>gg>enes are located in a tandem head-to-tail orientation on chromosome 7. This particular g>gg>ene encodes the ITIM-bearing>gg> member of the g>receptorg> pair, which functions in the inhibitory role. Alternative splicing>gg> has been observed at this locus and three variants, each encoding>gg> a distinct isoform, are described. [provided by RefSeq, Jul 2008]

PILRB Gene

paired immunog>gg>lobin-like type 2 g>receptorg> beta

The paired immunog>gg>lobin-like type 2 g>receptorg>s consist of hig>gg>hly related activating>gg> and inhibitory g>receptorg>s that are involved in the reg>gg>ulation of many aspects of the immune system. The paired immunog>gg>lobulin-like g>receptorg> g>gg>enes are located in a tandem head-to-tail orientation on chromosome 7. This g>gg>ene encodes the activating>gg> member of the g>receptorg> pair and contains a truncated cytoplasmic tail relative to its inhibitory counterpart (PILRA), that has a long>gg> cytoplasmic tail with immunog>receptorg> tyrosine-based inhibitory (ITIM) motifs. This g>gg>ene is thoug>gg>ht to have arisen from a duplication of the inhibitory PILRA g>gg>ene and evolved to acquire its activating>gg> function. [provided by RefSeq, Jun 2013]

LOC105369233 Gene

macrophag>gg>e mannose g>receptorg> 1-like

OR5AQ1P Gene

olfactory g>receptorg>, family 5, subfamily AQ, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10X1 Gene

olfactory g>receptorg>, family 10, subfamily X, member 1 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]

VN1R87P Gene

vomeronasal 1 g>receptorg> 87 pseudog>gg>ene

TRPA1 Gene

transient g>receptorg> potential cation channel, subfamily A, member 1

The structure of the protein encoded by this g>gg>ene is hig>gg>hly related to both the protein ankyrin and transmembrane proteins. The specific function of this protein has not yet been determined; however, studies indicate the function may involve a role in sig>gg>nal transduction and g>gg>rowth control. [provided by RefSeq, Jul 2008]

OR51AB1P Gene

olfactory g>receptorg>, family 51, subfamily AB, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4R2P Gene

olfactory g>receptorg>, family 4, subfamily R, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7D2 Gene

olfactory g>receptorg>, family 7, subfamily D, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7D4 Gene

olfactory g>receptorg>, family 7, subfamily D, member 4

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR9N1P Gene

olfactory g>receptorg>, family 9, subfamily N, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R12P Gene

vomeronasal 1 g>receptorg> 12 pseudog>gg>ene

OR4A3P Gene

olfactory g>receptorg>, family 4, subfamily A, member 3 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7E10P Gene

olfactory g>receptorg>, family 7, subfamily E, member 10 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

HTR3D Gene

5-hydroxytryptamine (serotonin) g>receptorg> 3D, ionotropic

The protein encoded this g>gg>ene belong>gg>s to the lig>gg>and-g>gg>ated ion channel g>receptorg> superfamily. This g>gg>ene encodes subunit D of the type 3 g>receptorg> for 5-hydroxytryptamine (serotonin), a biog>gg>enic hormone that functions as a neurotransmitter, a mitog>gg>en and a hormone. This hormone has been linked to neuropsychiatric disorders, including>gg> anxiety, depression, and mig>gg>raine. Serotonin g>receptorg>s causes fast and depolarizing>gg> responses in neurons following>gg> activation. The g>gg>enes encoding>gg> subunits C, D and E of this type 3 g>receptorg> form a cluster on chromosome 3. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2009]

HTR3E Gene

5-hydroxytryptamine (serotonin) g>receptorg> 3E, ionotropic

This locus encodes a 5-hydroxytryptamine (serotonin) g>receptorg> subunit. The encoded protein, subunit E, may play a role in neurotransmission in myenteric neurons. g>Gg>enes encoding>gg> subunits C, D and E form a cluster on chromosome 3. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been described. [provided by RefSeq, Feb 2012]

HTR3B Gene

5-hydroxytryptamine (serotonin) g>receptorg> 3B, ionotropic

The product of this g>gg>ene belong>gg>s to the lig>gg>and-g>gg>ated ion channel g>receptorg> superfamily. This g>gg>ene encodes subunit B of the type 3 g>receptorg> for 5-hydroxytryptamine (serotonin), a biog>gg>enic hormone that functions as a neurotransmitter, a hormone, and a mitog>gg>en. This g>receptorg> causes fast, depolarizing>gg> responses in neurons after activation. It is not functional as a homomeric complex, but a pentaheteromeric complex with subunit A (HTR3A) displays the full functional features of this g>receptorg>. [provided by RefSeq, Aug>gg> 2011]

HTR3C Gene

5-hydroxytryptamine (serotonin) g>receptorg> 3C, ionotropic

The product of this g>gg>ene belong>gg>s to the lig>gg>and-g>gg>ated ion channel g>receptorg> superfamily. This g>gg>ene encodes subunit C of the type 3 g>receptorg> for 5-hydroxytryptamine (serotonin), a biog>gg>enic hormone that functions as a neurotransmitter, a hormone, and a mitog>gg>en. This g>receptorg> causes fast, depolarizing>gg> responses in neurons after activation. g>Gg>enes encoding>gg> subunits C, D and E form a cluster on chromosome 3. [provided by RefSeq, Jul 2008]

HTR3A Gene

5-hydroxytryptamine (serotonin) g>receptorg> 3A, ionotropic

The product of this g>gg>ene belong>gg>s to the lig>gg>and-g>gg>ated ion channel g>receptorg> superfamily. This g>gg>ene encodes subunit A of the type 3 g>receptorg> for 5-hydroxytryptamine (serotonin), a biog>gg>enic hormone that functions as a neurotransmitter, a hormone, and a mitog>gg>en. This g>receptorg> causes fast, depolarizing>gg> responses in neurons after activation. It appears that the heteromeric combination of A and B subunits is necessary to provide the full functional features of this g>receptorg>, since either subunit alone results in g>receptorg>s with very low conductance and response amplitude. Alternatively spliced transcript variants encoding>gg> different isoforms have been identified. [provided by RefSeq, Jul 2008]

FCAMR Gene

Fc g>receptorg>, Ig>gg>A, Ig>gg>M, hig>gg>h affinity

Predicted to enable Ig>gg>A binding>gg> activity; Ig>gg>M binding>gg> activity; and transmembrane sig>gg>naling>gg> g>receptorg> activity. Predicted to be involved in sig>gg>nal transduction. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR2F2 Gene

olfactory g>receptorg>, family 2, subfamily F, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

ADORA2A Gene

adenosine A2a g>receptorg>

This g>gg>ene encodes a member of the g>gg>uanine nucleotide-binding>gg> protein (g>Gg> protein)-coupled g>receptorg> (g>Gg>PCR) superfamily, which is subdivided into classes and subtypes. The g>receptorg>s are seven-pass transmembrane proteins that respond to extracellular cues and activate intracellular sig>gg>nal transduction pathways. This protein, an adenosine g>receptorg> of A2A subtype, uses adenosine as the preferred endog>gg>enous ag>gg>onist and preferentially interacts with the g>Gg>(s) and g>Gg>(olf) family of g>Gg> proteins to increase intracellular cAMP levels. It plays an important role in many biolog>gg>ical functions, such as cardiac rhythm and circulation, cerebral and renal blood flow, immune function, pain reg>gg>ulation, and sleep. It has been implicated in pathophysiolog>gg>ical conditions such as inflammatory diseases and neurodeg>gg>enerative disorders. Alternative splicing>gg> results in multiple transcript variants. A read-throug>gg>h transcript composed of the upstream SPECC1L (sperm antig>gg>en with calponin homolog>gg>y and coiled-coil domains 1-like) and ADORA2A (adenosine A2a g>receptorg>) g>gg>ene sequence has been identified, but it is thoug>gg>ht to be non-coding>gg>. [provided by RefSeq, Jun 2013]

ADORA2B Gene

adenosine A2b g>receptorg>

This g>gg>ene encodes an adenosine g>receptorg> that is a member of the g>Gg> g>protein-coupledg> g>receptorg> superfamily. This integ>gg>ral membrane protein stimulates adenylate cyclase activity in the presence of adenosine. This protein also interacts with netrin-1, which is involved in axon elong>gg>ation. The g>gg>ene is located near the Smith-Mag>gg>enis syndrome reg>gg>ion on chromosome 17. [provided by RefSeq, Jul 2008]

LOC100422126 Gene

olfactory g>receptorg>, family 51, subfamily I, member 2 pseudog>gg>ene

KIR2DP1 Gene

killer cell immunog>gg>lobulin-like g>receptorg>, two domains, pseudog>gg>ene 1

Predicted to be involved in immune response-reg>gg>ulating>gg> sig>gg>naling>gg> pathway. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR4F7P Gene

olfactory g>receptorg>, family 4, subfamily F, member 7 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

IL6STP1 Gene

interleukin 6 sig>gg>nal transducer (g>gg>p130, oncostatin M g>receptorg>) pseudog>gg>ene 1

LOC100421999 Gene

olfactory g>receptorg>, family 5, subfamily J, member 2 pseudog>gg>ene

LOC100421991 Gene

olfactory g>receptorg>, family 4, subfamily A, member 5 pseudog>gg>ene

LOC100421992 Gene

olfactory g>receptorg>, family 4, subfamily A, member 5 pseudog>gg>ene

LOC100421994 Gene

olfactory g>receptorg>, family 4, subfamily A, member 5 pseudog>gg>ene

LOC100421995 Gene

olfactory g>receptorg>, family 4, subfamily A, member 5 pseudog>gg>ene

LOC100421996 Gene

olfactory g>receptorg>, family 4, subfamily A, member 5 pseudog>gg>ene

LOC100421997 Gene

olfactory g>receptorg>, family 4, subfamily A, member 5 pseudog>gg>ene

OR8g>Gg>5 Gene

olfactory g>receptorg>, family 8, subfamily g>Gg>, member 5

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR8g>Gg>1 Gene

olfactory g>receptorg>, family 8, subfamily g>Gg>, member 1 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This family member represents a polymorphic pseudog>gg>ene, whereby some individuals have a functional allele that encodes a full-leng>gg>th protein, while others have a non-functional allele due to the presence of an early stop codon and a 3' end deletion. [provided by RefSeq, Feb 2014]

OR8g>Gg>2 Gene

olfactory g>receptorg>, family 8, subfamily g>Gg>, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10D4P Gene

olfactory g>receptorg>, family 10, subfamily D, member 4 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR7E108P Gene

olfactory g>receptorg>, family 7, subfamily E, member 108 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR51M1 Gene

olfactory g>receptorg>, family 51, subfamily M, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

CMKLR1 Gene

chemerin chemokine-like g>receptorg> 1

Enables adipokinetic hormone binding>gg> activity and adipokinetic hormone g>receptorg> activity. Involved in several processes, including>gg> neg>gg>ative reg>gg>ulation of NF-kappaB transcription factor activity; positive reg>gg>ulation of macrophag>gg>e chemotaxis; and reg>gg>ulation of calcium-mediated sig>gg>naling>gg>. Located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR52E6 Gene

olfactory g>receptorg>, family 52, subfamily E, member 6

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR52E5 Gene

olfactory g>receptorg>, family 52, subfamily E, member 5

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR52E4 Gene

olfactory g>receptorg>, family 52, subfamily E, member 4

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR52E2 Gene

olfactory g>receptorg>, family 52, subfamily E, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR52E1 Gene

olfactory g>receptorg>, family 52, subfamily E, member 1 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]

LOC100421962 Gene

olfactory g>receptorg>, family 5, subfamily M, member 8 pseudog>gg>ene

TRBV29OR9-2 Gene

T cell g>receptorg> beta variable 29/OR9-2 (non-functional)

OR5M8 Gene

olfactory g>receptorg>, family 5, subfamily M, member 8

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5M9 Gene

olfactory g>receptorg>, family 5, subfamily M, member 9

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5M3 Gene

olfactory g>receptorg>, family 5, subfamily M, member 3

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5M1 Gene

olfactory g>receptorg>, family 5, subfamily M, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

FCMR Gene

Fc frag>gg>ment of Ig>gg>M g>receptorg>

Fc g>receptorg>s specifically bind to the Fc reg>gg>ion of immunog>gg>lobulins (Ig>gg>s) to mediate the unique functions of each Ig>gg> class. FAIM3 encodes an Fc g>receptorg> for Ig>gg>M (see MIM 147020) (Kubag>gg>awa et al., 2009 [PubMed 19858324]; Shima et al., 2010 [PubMed 20042454]).[supplied by OMIM, Jul 2010]

OR7A11P Gene

olfactory g>receptorg>, family 7, subfamily A, member 11 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10Y1P Gene

olfactory g>receptorg>, family 10, subfamily Y, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4A8 Gene

olfactory g>receptorg>, family 4, subfamily A, member 8 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]

OR4A5 Gene

olfactory g>receptorg>, family 4, subfamily A, member 5

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LIFR Gene

leukemia inhibitory factor g>receptorg> alpha

This g>gg>ene encodes a protein that belong>gg>s to the type I cytokine g>receptorg> family. This protein combines with a hig>gg>h-affinity converter subunit, g>gg>p130, to form a g>receptorg> complex that mediates the action of the leukemia inhibitory factor, a polyfunctional cytokine that is involved in cellular differentiation, proliferation and survival in the adult and the embryo. Mutations in this g>gg>ene cause Schwartz-Jampel syndrome type 2, a disease belong>gg>ing>gg> to the g>gg>roup of the bent-bone dysplasias. A translocation that involves the promoter of this g>gg>ene, t(5;8)(p13;q12) with the pleiomorphic adenoma g>gg>ene 1, is associated with salivary g>gg>land pleiomorphic adenoma, a common type of benig>gg>n epithelial tumor of the salivary g>gg>land. Multiple splice variants encoding>gg> two different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jun 2018]

BDKRB1 Gene

bradykinin g>receptorg> B1

Bradykinin, a 9 aa peptide, is g>gg>enerated in pathophysiolog>gg>ic conditions such as inflammation, trauma, burns, shock, and allerg>gg>y. The protein encoded by this g>gg>ene belong>gg>s to the g>Gg>-protein coupled g>receptorg> 1 family. Two types of g>Gg>-protein coupled g>receptorg>s have been found which bind bradykinin and mediate responses to these pathophysiolog>gg>ic conditions. The protein encoded by this g>gg>ene is one of these g>receptorg>s and is synthesized de novo following>gg> tissue injury. g>Receptorg> binding>gg> leads to an increase in the cytosolic calcium ion concentration, ultimately resulting>gg> in chronic and acute inflammatory responses. [provided by RefSeq, Aug>gg> 2020]

BDKRB2 Gene

bradykinin g>receptorg> B2

This g>gg>ene encodes a g>receptorg> for bradykinin. The 9 aa bradykinin peptide elicits many responses including>gg> vasodilation, edema, smooth muscle spasm and pain fiber stimulation. Bradykinin is released upon activation by pathophysiolog>gg>ic conditions such as trauma and inflammation, and binds to its kinin g>receptorg>s, B1 and B2. The B2 g>receptorg> associates with g>Gg> proteins that stimulate a phosphatidylinositol-calcium second messeng>gg>er system. [provided by RefSeq, Apr 2020]

OR52K2 Gene

olfactory g>receptorg>, family 52, subfamily K, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2L9P Gene

olfactory g>receptorg>, family 2, subfamily L, member 9 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

PIRT Gene

phosphoinositide-interacting>gg> reg>gg>ulator of transient g>receptorg> potential channels

Predicted to enable phosphatidylinositol bisphosphate binding>gg> activity and transmembrane transporter binding>gg> activity. Predicted to be involved in reg>gg>ulation of sensory perception of pain. Predicted to act upstream of or within behavioral response to pain; positive reg>gg>ulation of cation channel activity; and response to heat. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR1C1 Gene

olfactory g>receptorg>, family 1, subfamily C, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR11H12 Gene

olfactory g>receptorg>, family 11, subfamily H, member 12

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRBV24OR9-2 Gene

T cell g>receptorg> beta variable 24/OR9-2 (pseudog>gg>ene)

OR1D3P Gene

olfactory g>receptorg>, family 1, subfamily D, member 3 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR3A4P Gene

olfactory g>receptorg>, family 3, subfamily A, member 4 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is transcribed and contains an intact ORF, but it is predicted to be a pseudog>gg>ene due to a poorly conserved 7-transmembrane domain structure. [provided by RefSeq, Sep 2008]

VN1R7P Gene

vomeronasal 1 g>receptorg> 7 pseudog>gg>ene

VN2R21P Gene

vomeronasal 2 g>receptorg> 21 pseudog>gg>ene

VN1R57P Gene

vomeronasal 1 g>receptorg> 57 pseudog>gg>ene

IFNg>Gg>R1 Gene

interferon g>gg>amma g>receptorg> 1

This g>gg>ene (IFNg>Gg>R1) encodes the lig>gg>and-binding>gg> chain (alpha) of the g>gg>amma interferon g>receptorg>. Human interferon-g>gg>amma g>receptorg> is a heterodimer of IFNg>Gg>R1 and IFNg>Gg>R2. A g>gg>enetic variation in IFNg>Gg>R1 is associated with susceptibility to Helicobacter pylori infection. In addition, defects in IFNg>Gg>R1 are a cause of mendelian susceptibility to mycobacterial disease, also known as familial disseminated atypical mycobacterial infection. [provided by RefSeq, Jul 2008]

IFNg>Gg>R2 Gene

interferon g>gg>amma g>receptorg> 2 (interferon g>gg>amma transducer 1)

This g>gg>ene (IFNg>Gg>R2) encodes the non-lig>gg>and-binding>gg> beta chain of the g>gg>amma interferon g>receptorg>. Human interferon-g>gg>amma g>receptorg> is a heterodimer of IFNg>Gg>R1 and IFNg>Gg>R2. Defects in IFNg>Gg>R2 are a cause of mendelian susceptibility to mycobacterial disease (MSMD), also known as familial disseminated atypical mycobacterial infection. MSMD is a g>gg>enetically heterog>gg>eneous disease with autosomal recessive, autosomal dominant or X-linked inheritance. [provided by RefSeq, Jul 2008]

VN1R100P Gene

vomeronasal 1 g>receptorg> 100 pseudog>gg>ene

TRg>Gg>V11 Gene

T cell g>receptorg> g>gg>amma variable 11 (non-functional)

Predicted to be involved in adaptive immune response. Predicted to be located in external side of plasma membrane. Predicted to be part of T cell g>receptorg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR2S1P Gene

olfactory g>receptorg>, family 2, subfamily S, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC642262 Gene

nuclear g>receptorg> coactivator 4 pseudog>gg>ene

OR2AF1P Gene

olfactory g>receptorg>, family 2, subfamily AF, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR52P1P Gene

olfactory g>receptorg>, family 52, subfamily P, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

NR1I4 Gene

nuclear g>receptorg> subfamily 1, g>gg>roup I, member 4

FOLR1P1 Gene

folate g>receptorg> 1 (adult) pseudog>gg>ene 1

OR11J5P Gene

olfactory g>receptorg>, family 11, subfamily J, member 5 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRAV12-1 Gene

T cell g>receptorg> alpha variable 12-1

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAV12-3 Gene

T cell g>receptorg> alpha variable 12-3

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAV12-2 Gene

T cell g>receptorg> alpha variable 12-2

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

ADORA2BP1 Gene

adenosine A2b g>receptorg> pseudog>gg>ene 1

VN2R7P Gene

vomeronasal 2 g>receptorg> 7 pseudog>gg>ene

LOC100421173 Gene

thyroid hormone g>receptorg> interactor 11 pseudog>gg>ene

LOC100421171 Gene

thyroid hormone g>receptorg> interactor 11 pseudog>gg>ene

LOC100421174 Gene

thyroid hormone g>receptorg> interactor 13 pseudog>gg>ene

OR52R1 Gene

olfactory g>receptorg>, family 52, subfamily R, member 1 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]

F11R Gene

F11 g>receptorg>

Tig>gg>ht junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming>gg> continuous seals around cells and serving>gg> as a physical barrier to prevent solutes and water from passing>gg> freely throug>gg>h the paracellular space. The protein encoded by this immunog>gg>lobulin superfamily g>gg>ene member is an important reg>gg>ulator of tig>gg>ht junction assembly in epithelia. In addition, the encoded protein can act as (1) a g>receptorg> for reovirus, (2) a lig>gg>and for the integ>gg>rin LFA1, involved in leukocyte transmig>gg>ration, and (3) a platelet g>receptorg>. Multiple 5' alternatively spliced variants, encoding>gg> the same protein, have been identified but their biolog>gg>ical validity has not been established. [provided by RefSeq, Jul 2008]

g>Gg>RID1 Gene

g>gg>lutamate g>receptorg>, ionotropic, delta 1

This g>gg>ene encodes a subunit of g>gg>lutamate g>receptorg> channels. These channels mediate most of the fast excitatory synaptic transmission in the central nervous system and play key roles in synaptic plasticity.[provided by RefSeq, Jan 2009]

g>Gg>RID2 Gene

g>gg>lutamate g>receptorg>, ionotropic, delta 2

The protein encoded by this g>gg>ene is a member of the family of ionotropic g>gg>lutamate g>receptorg>s which are the predominant excitatory neurotransmitter g>receptorg>s in the mammalian brain. The encoded protein is a multi-pass membrane protein that is expressed selectively in cerebellar Purkinje cells. A point mutation in the mouse ortholog>gg>, associated with the phenotype named 'lurcher', in the heterozyg>gg>ous state leads to ataxia resulting>gg> from selective, cell-autonomous apoptosis of cerebellar Purkinje cells during>gg> postnatal development. Mice homozyg>gg>ous for this mutation die shortly after birth from massive loss of mid- and hindbrain neurons during>gg> late embryog>gg>enesis. This protein also plays a role in synapse org>gg>anization between parallel fibers and Purkinje cells. Alternate splicing>gg> results in multiple transcript variants encoding>gg> distinct isoforms. Mutations in this g>gg>ene cause cerebellar ataxia in humans. [provided by RefSeq, Apr 2014]

OR4C49P Gene

olfactory g>receptorg>, family 4, subfamily C, member 49 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10P1 Gene

olfactory g>receptorg>, family 10, subfamily P, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

g>Gg>IPR Gene

g>gg>astric inhibitory polypeptide g>receptorg>

This g>gg>ene encodes a g>Gg>-protein coupled g>receptorg> for g>gg>astric inhibitory polypeptide (g>Gg>IP), which was orig>gg>inally identified as an activity in g>gg>ut extracts that inhibited g>gg>astric acid secretion and g>gg>astrin release, but subsequently was demonstrated to stimulate insulin release in the presence of elevated g>gg>lucose. Mice lacking>gg> this g>gg>ene exhibit hig>gg>her blood g>gg>lucose levels with impaired initial insulin response after oral g>gg>lucose load. Defect in this g>gg>ene thus may contribute to the pathog>gg>enesis of diabetes. [provided by RefSeq, Oct 2011]

OR9I2P Gene

olfactory g>receptorg>, family 9, subfamily I, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR51K1P Gene

olfactory g>receptorg>, family 51, subfamily K, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR6F1 Gene

olfactory g>receptorg>, family 6, subfamily F, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR6C68 Gene

olfactory g>receptorg>, family 6, subfamily C, member 68

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a seven-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Mar 2014]

OR7E18P Gene

olfactory g>receptorg>, family 7, subfamily E, member 18 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR4N1P Gene

olfactory g>receptorg>, family 4, subfamily N, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10AB1P Gene

olfactory g>receptorg>, family 10, subfamily AB, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR9g>Gg>4 Gene

olfactory g>receptorg>, family 9, subfamily g>Gg>, member 4

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR9g>Gg>1 Gene

olfactory g>receptorg>, family 9, subfamily g>Gg>, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR9g>Gg>9 Gene

olfactory g>receptorg>, family 9, subfamily g>Gg>, member 9

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5g>Gg>4P Gene

olfactory g>receptorg>, family 5, subfamily g>Gg>, member 4 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

MALRD1 Gene

MAM and LDL g>receptorg> class A domain containing>gg> 1

This g>gg>ene encodes a conserved protein that features multiple MAM (meprin-A5-protein tyrosine phosphatase mu) and LDLR A2 (low density lipoprotein g>receptorg> A2) domains. Expression of this g>gg>ene is enriched in the small intestine and is upreg>gg>ulated during>gg> differentiation of a human cell line that exhibits properties of intestinal epithelial cells. The encoded protein has been shown to modulate production of Fg>Gg>F19 in a human intestinal cell line and may reg>gg>ulate bile acid metabolism in the liver. A synerg>gg>istic interaction between an allele of this g>gg>ene and the APOE E4 allele is associated with an elevated risk of Alzheimer's disease in human patients. [provided by RefSeq, Jul 2017]

LOC100422139 Gene

olfactory g>receptorg>, family 5, subfamily B, member 12 pseudog>gg>ene

LOC100422138 Gene

olfactory g>receptorg>, family 4, subfamily C, member 12 pseudog>gg>ene

LOC100422131 Gene

olfactory g>receptorg>, family 52, subfamily N, member 1 pseudog>gg>ene

OR2T8 Gene

olfactory g>receptorg>, family 2, subfamily T, member 8

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2T6 Gene

olfactory g>receptorg>, family 2, subfamily T, member 6

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2T7 Gene

olfactory g>receptorg>, family 2, subfamily T, member 7

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2T4 Gene

olfactory g>receptorg>, family 2, subfamily T, member 4

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2T5 Gene

olfactory g>receptorg>, family 2, subfamily T, member 5

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2T2 Gene

olfactory g>receptorg>, family 2, subfamily T, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2T1 Gene

olfactory g>receptorg>, family 2, subfamily T, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

TRAV13-1 Gene

T cell g>receptorg> alpha variable 13-1

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAV13-2 Gene

T cell g>receptorg> alpha variable 13-2

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

OR51E1 Gene

olfactory g>receptorg>, family 51, subfamily E, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR51E2 Gene

olfactory g>receptorg>, family 51, subfamily E, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

RIC3 Gene

RIC3 acetylcholine g>receptorg> chaperone

This g>gg>ene encodes a member of the resistance to inhibitors of cholinesterase 3-like family which functions as a chaperone of specific 5-hydroxytryptamine type 3 g>receptorg> and nicotinic acetylcholine g>receptorg> subtypes. The encoded protein influences the folding>gg> and assembly of these g>receptorg> subunits in the endoplasmic reticulum and expression on the cell surface. This protein contains an N-terminal transmembrane domain, a proline-rich spacer, and a cytosolic C-terminal coiled-coil domain. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Oct 2016]

FFAR1 Gene

free fatty acid g>receptorg> 1

This g>gg>ene encodes a member of the g>Gg>P40 family of g>Gg> g>protein-coupledg> g>receptorg>s that are clustered tog>gg>ether on chromosome 19. The encoded protein is a g>receptorg> for medium and long>gg> chain free fatty acids and may be involved in the metabolic reg>gg>ulation of insulin secretion. Polymorphisms in this g>gg>ene may be associated with type 2 diabetes. [provided by RefSeq, Apr 2009]

g>Gg>LP1R Gene

g>gg>lucag>gg>on-like peptide 1 g>receptorg>

This g>gg>ene encodes a 7-transmembrane protein that functions as a g>receptorg> for g>gg>lucag>gg>on-like peptide 1 (g>Gg>LP-1) hormone, which stimulates g>gg>lucose-induced insulin secretion. This g>receptorg>, which functions at the cell surface, becomes internalized in response to g>Gg>LP-1 and g>Gg>LP-1 analog>gg>s, and it plays an important role in the sig>gg>naling>gg> cascades leading>gg> to insulin secretion. It also displays neuroprotective effects in animal models. Polymorphisms in this g>gg>ene are associated with diabetes. The protein is an important drug>gg> targ>gg>et for the treatment of type 2 diabetes and stroke. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants. [provided by RefSeq, Apr 2016]

OR2W2P Gene

olfactory g>receptorg>, family 2, subfamily W, member 2 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

KIR2DL3 Gene

killer cell immunog>gg>lobulin-like g>receptorg>, two domains, long>gg> cytoplasmic tail, 3

Killer cell immunog>gg>lobulin-like g>receptorg>s (KIRs) are transmembrane g>gg>lycoproteins expressed by natural killer cells and subsets of T cells. The KIR g>gg>enes are polymorphic and hig>gg>hly homolog>gg>ous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte g>receptorg> complex (LRC). The g>gg>ene content of the KIR g>gg>ene cluster varies among>gg> haplotypes, althoug>gg>h several `framework` g>gg>enes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunog>gg>lobulin domains (2D or 3D) and by whether they have a long>gg> (L) or short (S) cytoplasmic domain. KIR proteins with the long>gg> cytoplasmic domain transduce inhibitory sig>gg>nals upon lig>gg>and binding>gg> via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding>gg> protein to transduce activating>gg> sig>gg>nals. The lig>gg>ands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thoug>gg>ht to play an important role in reg>gg>ulation of the immune response. [provided by RefSeq, Jul 2008]

KIR2DL2 Gene

killer cell immunog>gg>lobulin-like g>receptorg>, two domains, long>gg> cytoplasmic tail, 2

Killer cell immunog>gg>lobulin-like g>receptorg>s (KIRs) are transmembrane g>gg>lycoproteins expressed by natural killer cells and subsets of T cells. The KIR g>gg>enes are polymorphic and hig>gg>hly homolog>gg>ous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte g>receptorg> complex (LRC). The g>gg>ene content of the KIR g>gg>ene cluster varies among>gg> haplotypes, althoug>gg>h several `framework` g>gg>enes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunog>gg>lobulin domains (2D or 3D) and by whether they have a long>gg> (L) or short (S) cytoplasmic domain. KIR proteins with the long>gg> cytoplasmic domain transduce inhibitory sig>gg>nals upon lig>gg>and binding>gg> via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding>gg> protein to transduce activating>gg> sig>gg>nals. The lig>gg>ands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thoug>gg>ht to play an important role in reg>gg>ulation of the immune response. [provided by RefSeq, Jul 2008]

KIR2DL1 Gene

killer cell immunog>gg>lobulin-like g>receptorg>, two domains, long>gg> cytoplasmic tail, 1

Killer cell immunog>gg>lobulin-like g>receptorg>s (KIRs) are transmembrane g>gg>lycoproteins expressed by natural killer cells and subsets of T cells. The KIR g>gg>enes are polymorphic and hig>gg>hly homolog>gg>ous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte g>receptorg> complex (LRC). The g>gg>ene content of the KIR g>gg>ene cluster varies among>gg> haplotypes, althoug>gg>h several `framework` g>gg>enes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunog>gg>lobulin domains (2D or 3D) and by whether they have a long>gg> (L) or short (S) cytoplasmic domain. KIR proteins with the long>gg> cytoplasmic domain transduce inhibitory sig>gg>nals upon lig>gg>and binding>gg> via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding>gg> protein to transduce activating>gg> sig>gg>nals. The lig>gg>ands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thoug>gg>ht to play an important role in reg>gg>ulation of the immune response. [provided by RefSeq, Jul 2008]

KIR2DL4 Gene

killer cell immunog>gg>lobulin-like g>receptorg>, two domains, long>gg> cytoplasmic tail, 4

Killer cell immunog>gg>lobulin-like g>receptorg>s (KIRs) are transmembrane g>gg>lycoproteins expressed by natural killer cells and subsets of T cells. The KIR g>gg>enes are polymorphic and hig>gg>hly homolog>gg>ous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte g>receptorg> complex (LRC). The g>gg>ene content of the KIR g>gg>ene cluster varies among>gg> haplotypes, althoug>gg>h several `framework` g>gg>enes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunog>gg>lobulin domains (2D or 3D) and by whether they have a long>gg> (L) or short (S) cytoplasmic domain. KIR proteins with the long>gg> cytoplasmic domain transduce inhibitory sig>gg>nals upon lig>gg>and binding>gg> via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding>gg> protein to transduce activating>gg> sig>gg>nals. The lig>gg>ands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thoug>gg>ht to play an important role in reg>gg>ulation of the immune response. This g>gg>ene is one of the `framework` loci that is present on all haplotypes. Alternate alleles of this g>gg>ene are represented on multiple alternate reference loci (ALT_REF_LOCs). Alternative splicing>gg> results in multiple transcript variants, some of which may not be annotated on the primary reference assembly. [provided by RefSeq, Jul 2016]

TRBV29-1 Gene

T cell g>receptorg> beta variable 29-1

Predicted to be involved in cell surface g>receptorg> sig>gg>naling>gg> pathway. Predicted to be part of T cell g>receptorg> complex. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRAJ4 Gene

T cell g>receptorg> alpha joining>gg> 4

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ5 Gene

T cell g>receptorg> alpha joining>gg> 5

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ6 Gene

T cell g>receptorg> alpha joining>gg> 6

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ7 Gene

T cell g>receptorg> alpha joining>gg> 7

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ1 Gene

T cell g>receptorg> alpha joining>gg> 1 (non-functional)

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ2 Gene

T cell g>receptorg> alpha joining>gg> 2 (non-functional)

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ3 Gene

T cell g>receptorg> alpha joining>gg> 3

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ8 Gene

T cell g>receptorg> alpha joining>gg> 8

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

TRAJ9 Gene

T cell g>receptorg> alpha joining>gg> 9

T cell g>receptorg>s recog>gg>nize foreig>gg>n antig>gg>ens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antig>gg>en presenting>gg> cells (APC). Each T cell g>receptorg> is a dimer consisting>gg> of one alpha and one beta chain or one delta and one g>gg>amma chain. In a sing>gg>le cell, the T cell g>receptorg> loci are rearrang>gg>ed and expressed in the order delta, g>gg>amma, beta, and alpha. If both delta and g>gg>amma rearrang>gg>ements produce functional chains, the cell expresses delta and g>gg>amma. If not, the cell proceeds to rearrang>gg>e the beta and alpha loci. This reg>gg>ion represents the g>gg>ermline org>gg>anization of the T cell g>receptorg> alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining>gg>), and C (constant) seg>gg>ments and the delta locus also includes diversity (D) seg>gg>ments. The delta locus is situated within the alpha locus, between the alpha V and J seg>gg>ments. During>gg> T cell development, the delta chain is synthesized by a recombination event at the DNA level joining>gg> a D seg>gg>ment with a J seg>gg>ment; a V seg>gg>ment is then joined to the D-J g>gg>ene. The alpha chain is synthesized by recombination joining>gg> a sing>gg>le V seg>gg>ment with a J seg>gg>ment. For both chains, the C seg>gg>ment is later joined by splicing>gg> at the RNA level. Recombination of many different V seg>gg>ments with several J seg>gg>ments provides a wide rang>gg>e of antig>gg>en recog>gg>nition. Additional diversity is attained by junctional diversity, resulting>gg> from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable seg>gg>ments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J seg>gg>ments of the alpha locus are known to be incapable of encoding>gg> a protein and are considered pseudog>gg>enes. [provided by RefSeq, Aug>gg> 2016]

OR7A19P Gene

olfactory g>receptorg>, family 7, subfamily A, member 19 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R85P Gene

vomeronasal 1 g>receptorg> 85 pseudog>gg>ene

TRPC1 Gene

transient g>receptorg> potential cation channel, subfamily C, member 1

The protein encoded by this g>gg>ene is a membrane protein that can form a non-selective channel permeable to calcium and other cations. The encoded protein appears to be induced to form channels by a g>receptorg> tyrosine kinase-activated phosphatidylinositol second messeng>gg>er system and also by depletion of intracellular calcium stores. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Oct 2011]

TRPC7 Gene

transient g>receptorg> potential cation channel, subfamily C, member 7

Predicted to enable inositol 1,4,5 trisphosphate binding>gg> activity and store-operated calcium channel activity. Predicted to be involved in calcium ion transmembrane transport; reg>gg>ulation of cytosolic calcium ion concentration; and sing>gg>le fertilization. Predicted to be located in membrane; nuclear envelope; and perinuclear reg>gg>ion of cytoplasm. Predicted to be part of cation channel complex. Predicted to be active in plasma membrane. Implicated in lung>gg> cancer. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRPC5 Gene

transient g>receptorg> potential cation channel, subfamily C, member 5

This g>gg>ene belong>gg>s to the transient g>receptorg> family. It encodes one of the seven mammalian TRPC (transient g>receptorg> potential channel) proteins. The encoded protein is a multi-pass membrane protein and is thoug>gg>ht to form a g>receptorg>-activated non-selective calcium permeant cation channel. The protein is active alone or as a heteromultimeric assembly with TRPC1, TRPC3, and TRPC4. It also interacts with multiple proteins including>gg> calmodulin, CABP1, enkurin, Na(+)-H+ exchang>gg>e reg>gg>ulatory factor (NHERF ), interferon-induced g>Gg>TP-binding>gg> protein (MX1), ring>gg> fing>gg>er protein 24 (RNF24), and SEC14 domain and spectrin repeat-containing>gg> protein 1 (SESTD1). [provided by RefSeq, May 2010]

VN1R2 Gene

vomeronasal 1 g>receptorg> 2

Predicted to enable pheromone g>receptorg> activity. Predicted to be involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway; response to pheromone; and sensory perception of chemical stimulus. Predicted to be located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

VN1R3 Gene

vomeronasal 1 g>receptorg> 3 (g>gg>ene/pseudog>gg>ene)

Predicted to enable pheromone g>receptorg> activity. Predicted to be involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway; response to pheromone; and sensory perception of chemical stimulus. Predicted to be located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

VN1R1 Gene

vomeronasal 1 g>receptorg> 1

Pheromones are chemical sig>gg>nals that elicit specific behavioral responses and physiolog>gg>ic alterations in recipients of the same species. The protein encoded by this g>gg>ene is similar to pheromone g>receptorg>s and is primarily localized to the olfactory mucosa. An alternate splice variant of this g>gg>ene is thoug>gg>ht to exist, but its full leng>gg>th nature has not been determined. [provided by RefSeq, Jul 2008]

VN1R4 Gene

vomeronasal 1 g>receptorg> 4

Predicted to enable pheromone g>receptorg> activity. Predicted to be involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway; response to pheromone; and sensory perception of chemical stimulus. Predicted to be located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

VN1R5 Gene

vomeronasal 1 g>receptorg> 5 (g>gg>ene/pseudog>gg>ene)

Predicted to enable pheromone g>receptorg> activity. Predicted to be involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway and response to pheromone. Predicted to be located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>NRHR2 Gene

g>gg>onadotropin-releasing>gg> hormone (type 2) g>receptorg> 2, pseudog>gg>ene

In non-hominoid primates and non-mammalian vertebrates, the g>gg>onadotropin releasing>gg> hormone 2 g>receptorg> g>gg>ene (g>Gg>nRHR2) encodes a seven-transmembrane g>Gg>-protein coupled g>receptorg>. However, in human, the corresponding>gg> reading>gg> frame contains a premature stop codon, which has been sug>gg>g>gg>ested to encode a selenocysteine residue, but there is no solid evidence for selenocysteine incorporation (PMID: 12538601). It appears that the human g>Gg>nRHR2 transcription occurs but the g>gg>ene does not likely produce a functional multi-transmembrane protein. A non-transcribed pseudog>gg>ene of g>Gg>nRHR2 is located on chromosome 14. Multiple alternatively spliced transcript variants have been found for this g>gg>ene. [provided by RefSeq, Aug>gg> 2013]

OR5M5P Gene

olfactory g>receptorg>, family 5, subfamily M, member 5 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10T1P Gene

olfactory g>receptorg>, family 10, subfamily T, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

RIPK4 Gene

g>receptorg>-interacting>gg> serine-threonine kinase 4

The protein encoded by this g>gg>ene is a serine/threonine protein kinase that interacts with protein kinase C-delta. The encoded protein can also activate NFkappaB and is required for keratinocyte differentiation. This kinase underg>gg>oes autophosphorylation. [provided by RefSeq, Jul 2008]

TAAR4P Gene

trace amine associated g>receptorg> 4, pseudog>gg>ene

Predicted to enable 2-phenylethylamine g>receptorg> activity and trace-amine g>receptorg> activity. Predicted to be involved in behavioral fear response; chemosensory behavior; and sensory perception of chemical stimulus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR1K1 Gene

olfactory g>receptorg>, family 1, subfamily K, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

VN1R28P Gene

vomeronasal 1 g>receptorg> 28 pseudog>gg>ene

TAS2R6P Gene

taste g>receptorg>, type 2, member 6, pseudog>gg>ene

OR3D1P Gene

olfactory g>receptorg>, family 3, subfamily D, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

FCRL6P1 Gene

Fc g>receptorg>-like 6 pseudog>gg>ene 1

LOC100421513 Gene

transducin (beta)-like 1 X-linked g>receptorg> 1 pseudog>gg>ene

Ig>Gg>FLR1 Gene

Ig>Gg>F-like family g>receptorg> 1

Located in nucleoplasm and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TAS2R60 Gene

taste g>receptorg>, type 2, member 60

This g>gg>ene encodes a member of the bitter taste g>receptorg> family which belong>gg> to the g>Gg> g>protein-coupledg> g>receptorg> superfamily and are predominantly expressed in taste g>receptorg> cells of the tong>gg>ue and palate epithelia. This intronless taste g>receptorg> g>gg>ene encodes a seven-transmembrane g>receptorg> protein, functioning>gg> as a bitter taste g>receptorg>. This g>gg>ene is clustered tog>gg>ether with eig>gg>ht other taste g>receptorg> g>gg>enes on chromosome 7. [provided by RefSeq, Jul 2017]

LTB4R2 Gene

leukotriene B4 g>receptorg> 2

Predicted to enable g>Gg> g>protein-coupledg> peptide g>receptorg> activity and leukotriene B4 g>receptorg> activity. Predicted to be involved in neuropeptide sig>gg>naling>gg> pathway. Predicted to act upstream of or within keratinocyte mig>gg>ration and sig>gg>nal transduction. Located in nucleoplasm and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OPRM1 Gene

opioid g>receptorg>, mu 1

This g>gg>ene encodes one of at least three opioid g>receptorg>s in humans; the mu opioid g>receptorg> (MOR). The MOR is the principal targ>gg>et of endog>gg>enous opioid peptides and opioid analg>gg>esic ag>gg>ents such as beta-endorphin and enkephalins. The MOR also has an important role in dependence to other drug>gg>s of abuse, such as nicotine, cocaine, and alcohol via its modulation of the dopamine system. The NM_001008503.2:c.118A>g>Gg> allele has been associated with opioid and alcohol addiction and variations in pain sensitivity but evidence for it having>gg> a causal role is conflicting>gg>. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. Thoug>gg>h the canonical MOR belong>gg>s to the superfamily of 7-transmembrane-spanning>gg> g>Gg>-g>protein-coupledg> g>receptorg>s some isoforms of this g>gg>ene have only 6 transmembrane domains. [provided by RefSeq, Oct 2013]

AVPR1B Gene

arg>gg>inine vasopressin g>receptorg> 1B

The protein encoded by this g>gg>ene acts as g>receptorg> for arg>gg>inine vasopressin. This g>receptorg> belong>gg>s to the subfamily of g>Gg>-protein coupled g>receptorg>s which includes AVPR1A, V2R and OXT g>receptorg>s. Its activity is mediated by g>Gg> proteins which stimulate a phosphatidylinositol-calcium second messeng>gg>er system. The g>receptorg> is primarily located in the anterior pituitary, where it stimulates ACTH release. It is expressed at hig>gg>h levels in ACTH-secreting>gg> pituitary adenomas as well as in bronchial carcinoids responsible for the ectopic ACTH syndrome. A spliced antisense transcript of this g>gg>ene has been reported but its function is not known. [provided by RefSeq, Jul 2008]

AVPR1A Gene

arg>gg>inine vasopressin g>receptorg> 1A

The protein encoded by this g>gg>ene acts as g>receptorg> for arg>gg>inine vasopressin. This g>receptorg> belong>gg>s to the subfamily of g>Gg>-protein coupled g>receptorg>s which includes AVPR1B, V2R and OXT g>receptorg>s. Its activity is mediated by g>Gg> proteins which stimulate a phosphatidylinositol-calcium second messeng>gg>er system. The g>receptorg> mediates cell contraction and proliferation, platelet ag>gg>g>gg>reg>gg>ation, release of coag>gg>ulation factor and g>gg>lycog>gg>enolysis. [provided by RefSeq, Jul 2008]

MCHR2 Gene

melanin-concentrating>gg> hormone g>receptorg> 2

Predicted to enable g>Gg> g>protein-coupledg> peptide g>receptorg> activity. Predicted to be involved in neuropeptide sig>gg>naling>gg> pathway. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MCHR1 Gene

melanin-concentrating>gg> hormone g>receptorg> 1

The protein encoded by this g>gg>ene, a member of the g>Gg> g>protein-coupledg> g>receptorg> family 1, is an integ>gg>ral plasma membrane protein which binds melanin-concentrating>gg> hormone. The encoded protein can inhibit cAMP accumulation and stimulate intracellular calcium flux, and is probably involved in the neuronal reg>gg>ulation of food consumption. Althoug>gg>h structurally similar to somatostatin g>receptorg>s, this protein does not seem to bind somatostatin. [provided by RefSeq, Jul 2008]

LOC100418635 Gene

olfactory g>receptorg>, family 2, subfamily W, member 1 pseudog>gg>ene

OR7E8P Gene

olfactory g>receptorg>, family 7, subfamily E, member 8 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5H7P Gene

olfactory g>receptorg>, family 5, subfamily H, member 7 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10H2 Gene

olfactory g>receptorg>, family 10, subfamily H, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10H3 Gene

olfactory g>receptorg>, family 10, subfamily H, member 3

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10H1 Gene

olfactory g>receptorg>, family 10, subfamily H, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10H4 Gene

olfactory g>receptorg>, family 10, subfamily H, member 4

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10H5 Gene

olfactory g>receptorg>, family 10, subfamily H, member 5

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

C3AR1 Gene

complement component 3a g>receptorg> 1

C3a is an anaphylatoxin released during>gg> activation of the complement system. The protein encoded by this g>gg>ene is an orphan g>Gg> g>protein-coupledg> g>receptorg> for C3a. Binding>gg> of C3a by the encoded g>receptorg> activates chemotaxis, g>gg>ranule enzyme release, superoxide anion production, and bacterial opsonization. [provided by RefSeq, May 2016]

TNFRSF11A Gene

tumor necrosis factor g>receptorg> superfamily, member 11a, NFKB activator

The protein encoded by this g>gg>ene is a member of the TNF-g>receptorg> superfamily. This g>receptorg>s can interact with various TRAF family proteins, throug>gg>h which this g>receptorg> induces the activation of NF-kappa B and MAPK8/JNK. This g>receptorg> and its lig>gg>and are important reg>gg>ulators of the interaction between T cells and dendritic cells. This g>receptorg> is also an essential mediator for osteoclast and lymph node development. Mutations at this locus have been associated with familial expansile osteolysis, autosomal recessive osteopetrosis, and Pag>gg>et disease of bone. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug>gg> 2012]

TNFRSF11B Gene

tumor necrosis factor g>receptorg> superfamily, member 11b

The protein encoded by this g>gg>ene is a member of the TNF-g>receptorg> superfamily. This protein is an osteoblast-secreted decoy g>receptorg> that functions as a neg>gg>ative reg>gg>ulator of bone resorption. This protein specifically binds to its lig>gg>and, osteoproteg>gg>erin lig>gg>and, both of which are key extracellular reg>gg>ulators of osteoclast development. Studies of the mouse counterpart also sug>gg>g>gg>est that this protein and its lig>gg>and play a role in lymph-node org>gg>anog>gg>enesis and vascular calcification. Alternatively spliced transcript variants of this g>gg>ene have been reported, but their full leng>gg>th nature has not been determined. [provided by RefSeq, Jul 2008]

VN1R24P Gene

vomeronasal 1 g>receptorg> 24 pseudog>gg>ene

VN1R32P Gene

vomeronasal 1 g>receptorg> 32 pseudog>gg>ene

OR6N1 Gene

olfactory g>receptorg>, family 6, subfamily N, member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR6N2 Gene

olfactory g>receptorg>, family 6, subfamily N, member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

PTH1R Gene

parathyroid hormone 1 g>receptorg>

The protein encoded by this g>gg>ene is a member of the g>Gg>-protein coupled g>receptorg> family 2. This protein is a g>receptorg> for parathyroid hormone (PTH) and for parathyroid hormone-like hormone (PTHLH). The activity of this g>receptorg> is mediated by g>Gg> proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messeng>gg>er system. Defects in this g>receptorg> are known to be the cause of Jansen's metaphyseal chondrodysplasia (JMC), chondrodysplasia Blomstrand type (BOCD), as well as enchodromatosis. Two transcript variants encoding>gg> the same protein have been found for this g>gg>ene. [provided by RefSeq, May 2010]

VN1R74P Gene

vomeronasal 1 g>receptorg> 74 pseudog>gg>ene

OR6C72P Gene

olfactory g>receptorg>, family 6, subfamily C, member 72 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR10J8P Gene

olfactory g>receptorg>, family 10, subfamily J, member 8 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2R1P Gene

olfactory g>receptorg>, family 2, subfamily R, member 1, pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR5BE1P Gene

olfactory g>receptorg>, family 5, subfamily BE, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR52Q1P Gene

olfactory g>receptorg>, family 52, subfamily Q, member 1 pseudog>gg>ene

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

IRAg>Gg>2 Gene

inositol 1,4,5-triphosphate g>receptorg> associated 2

The protein encode dby this g>gg>ene is expressed in a developmentally reg>gg>ulated manner in lymphoid cell lines and tissues. The protein is localized to the cytoplasmic face of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]

SRPRA Gene

SRP g>receptorg> subunit alpha

The g>gg>ene encodes a subunit of the endoplasmic reticulum sig>gg>nal recog>gg>nition particle g>receptorg> that, in conjunction with the sig>gg>nal recog>gg>nition particle, is involved in the targ>gg>eting>gg> and translocation of sig>gg>nal sequence tag>gg>g>gg>ed secretory and membrane proteins across the endoplasmic reticulum. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Apr 2010]

VSIR Gene

V-set immunoreg>gg>ulatory g>receptorg>

Enables endopeptidase activator activity; enzyme binding>gg> activity; and identical protein binding>gg> activity. Involved in several processes, including>gg> neg>gg>ative reg>gg>ulation of cytokine production; positive reg>gg>ulation of metabolic process; and reg>gg>ulation of T cell activation. Located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RACK1 Gene

g>receptorg> for activated C kinase 1

Enables several functions, including>gg> cyclin binding>gg> activity; enzyme binding>gg> activity; and protein domain specific binding>gg> activity. Involved in several processes, including>gg> reg>gg>ulation of protein metabolic process; reg>gg>ulation of sig>gg>nal transduction; and reg>gg>ulation of vesicle-mediated transport. Located in several cellular components, including>gg> midbody; perinuclear reg>gg>ion of cytoplasm; and phag>gg>ocytic cup. Part of IRE1-RACK1-PP2A complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC107987462 Gene

leukocyte immunog>gg>lobulin-like g>receptorg> subfamily B member 3

LOC112268384 Gene

olfactory g>receptorg> 2A1/2A42

OR4M2B Gene

olfactory g>receptorg> family 4 subfamily M member 2B

Predicted to enable olfactory g>receptorg> activity. Predicted to be involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway and detection of chemical stimulus involved in sensory perception of smell. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MINAR1 Gene

membrane integ>gg>ral NOTCH2 associated g>receptorg> 1

Involved in several processes, including>gg> neg>gg>ative reg>gg>ulation of TOR sig>gg>naling>gg>; neg>gg>ative reg>gg>ulation of ang>gg>iog>gg>enesis; and neg>gg>ative reg>gg>ulation of protein ubiquitination. Located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

HJV Gene

hemojuvelin BMP co-g>receptorg>

The product of this g>gg>ene is involved in iron metabolism. It may be a component of the sig>gg>naling>gg> pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular g>receptorg> for hepcidin. Two uORFs in the 5' UTR neg>gg>atively reg>gg>ulate the expression and activity of the encoded protein. Alternatively spliced transcript variants encoding>gg> different isoforms have been identified for this g>gg>ene. Defects in this g>gg>ene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting>gg> in hypog>gg>onadotrophic hypog>gg>onadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring>gg> typically before ag>gg>e of 30. [provided by RefSeq, Oct 2015]

MINAR2 Gene

membrane integ>gg>ral NOTCH2 associated g>receptorg> 2

Enables cholesterol binding>gg> activity. Involved in ang>gg>iog>gg>enesis. Located in endoplasmic reticulum. Implicated in autosomal recessive nonsyndromic deafness. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

IRAg>Gg>1 Gene

inositol 1,4,5-triphosphate g>receptorg> associated 1

This g>gg>ene is similar to a putative mouse tumor suppressor g>gg>ene (Mrvi1) that is frequently disrupted by mouse AIDS-related virus (MRV). The encoded protein, which is found in the membrane of the endoplasmic reticulum, is similar to Jaw1, a lymphoid-restricted protein whose expression is down-reg>gg>ulated during>gg> lymphoid differentiation. This protein is a substrate of cg>Gg>MP-dependent kinase-1 (PKg>Gg>1) that can function as a reg>gg>ulator of IP3-induced calcium release. Studies in mouse sug>gg>g>gg>est that MRV integ>gg>ration at Mrvi1 induces myeloid leukemia by altering>gg> the expression of a g>gg>ene important for myeloid cell g>gg>rowth and/or differentiation, and thus this g>gg>ene may function as a myeloid leukemia tumor suppressor g>gg>ene. Several alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene, and alternative translation start sites, including>gg> a non-AUg>Gg> (CUg>Gg>) start site, are used. [provided by RefSeq, May 2011]

MPIg>Gg>6B Gene

meg>gg>akaryocyte and platelet inhibitory g>receptorg> g>Gg>6b

This g>gg>ene is a member of the immunog>gg>lobulin (Ig>gg>) superfamily and is located in the major histocompatibility complex (MHC) class III reg>gg>ion. The protein encoded by this g>gg>ene is a g>gg>lycosylated, plasma membrane-bound cell surface g>receptorg>, but soluble isoforms encoded by some transcript variants have been found in the endoplasmic reticulum and g>Gg>olg>gg>i before being>gg> secreted. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

TAAR3P Gene

trace amine associated g>receptorg> 3, pseudog>gg>ene

Predicted to enable trace-amine g>receptorg> activity. Predicted to be involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway and sensory perception of chemical stimulus. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CMKLR2 Gene

chemerin chemokine-like g>receptorg> 2

Enables adipokinetic hormone binding>gg> activity and adipokinetic hormone g>receptorg> activity. Predicted to be involved in g>gg>lucose homeostasis and neuropeptide sig>gg>naling>gg> pathway. Located in nucleoplasm and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR52P1 Gene

olfactory g>receptorg> family 52 subfamily P member 1 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

NPY4R2 Gene

neuropeptide Y g>receptorg> Y4-2

Enables pancreatic polypeptide g>receptorg> activity and peptide hormone binding>gg> activity. Involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway. Located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KLRA1P Gene

killer cell lectin like g>receptorg> A1, pseudog>gg>ene

FCg>Gg>R1CP Gene

Fc g>gg>amma g>receptorg> Ic, pseudog>gg>ene

The g>gg>ene represents one of three related immunog>gg>lobulin g>gg>amma Fc g>receptorg> g>gg>enes located on chromosome 1. This family member lacks the transmembrane and coiled-coiled domains found in other family members and is thoug>gg>ht to be a pseudog>gg>ene of Fc-g>gg>amma-g>receptorg> 1A. [provided by RefSeq, Apr 2009]

ARLNC1 Gene

androg>gg>en g>receptorg> reg>gg>ulated long>gg> noncoding>gg> RNA 1

PTg>Gg>ER4P2 Gene

prostag>gg>landin E g>receptorg> 4 pseudog>gg>ene 2

FCg>Gg>R1BP Gene

Fc g>gg>amma g>receptorg> Ib, pseudog>gg>ene

Three distinct, but closely related classes of g>receptorg>s that bind the Fc portion of Ig>gg>g>Gg> have been identified (Fcg>gg>amma RI, II and III). The Fcg>gg>ammaRI family consists of three closely related g>gg>enes termed A, B, and C. This g>gg>ene likely encodes a non-functional protein that is not detectable at the cell surface and binds lig>gg>and with low affinity. [provided by RefSeq, Nov 2019]

LOC107987425 Gene

leukocyte immunog>gg>lobulin-like g>receptorg> subfamily B member 3

OR8U3 Gene

olfactory g>receptorg> family 8 subfamily U member 3

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. This olfactory g>receptorg> g>gg>ene is a seg>gg>reg>gg>ating>gg> pseudog>gg>ene, where some individuals have an allele that encodes a functional olfactory g>receptorg>, while other individuals have an allele encoding>gg> a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]

OR4N4C Gene

olfactory g>receptorg> family 4 subfamily N member 4C

Predicted to enable olfactory g>receptorg> activity. Predicted to be involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway and detection of chemical stimulus involved in sensory perception of smell. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OR8g>Gg>3 Gene

olfactory g>receptorg> family 8 subfamily g>Gg> member 3 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2I1 Gene

olfactory g>receptorg> family 2 subfamily I member 1 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR2B8 Gene

olfactory g>receptorg> family 2 subfamily B member 8 (g>gg>ene/pseudog>gg>ene)

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC107987545 Gene

olfactory g>receptorg> 2A7

LOC124905743 Gene

low affinity immunog>gg>lobulin g>gg>amma Fc reg>gg>ion g>receptorg> III-B

OR5BS1 Gene

olfactory g>receptorg> family 5 subfamily BS member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR51C1 Gene

olfactory g>receptorg> family 51 subfamily C member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

OR14L1 Gene

olfactory g>receptorg> family 14 subfamily L member 1

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC124905359 Gene

olfactory g>receptorg> 4N4

OR56B2 Gene

olfactory g>receptorg> family 56 subfamily B member 2

Olfactory g>receptorg>s interact with odorant molecules in the nose, to initiate a neuronal response that trig>gg>g>gg>ers the perception of a smell. The olfactory g>receptorg> proteins are members of a larg>gg>e family of g>Gg>-g>protein-coupledg> g>receptorg>s (g>Gg>PCR) arising>gg> from sing>gg>le coding>gg>-exon g>gg>enes. Olfactory g>receptorg>s share a 7-transmembrane domain structure with many neurotransmitter and hormone g>receptorg>s and are responsible for the recog>gg>nition and g>Gg> protein-mediated transduction of odorant sig>gg>nals. The olfactory g>receptorg> g>gg>ene family is the larg>gg>est in the g>gg>enome. [provided by RefSeq, Jul 2008]

ACKR5 Gene

atypical chemokine g>receptorg> 5

OR1R1 Gene

olfactory g>receptorg> family 1 subfamily R member 1

OR9H1 Gene

olfactory g>receptorg> family 9 subfamily H member 1 pseudog>gg>ene (g>gg>ene/pseudog>gg>ene)

OR5D3 Gene

olfactory g>receptorg> family 5 subfamily D member 3

LOC107986346 Gene

mitochondrial import g>receptorg> subunit TOM7 homolog>gg>

LOC112268354 Gene

killer cell immunog>gg>lobulin-like g>receptorg> 2DL4-like

IL36R Gene

interleukin 36 g>receptorg>

The protein encoded by this g>gg>ene is a member of the interleukin 1 g>receptorg> family. An experiment with transient g>gg>ene expression demonstrated that this g>receptorg> was incapable of binding>gg> to interleukin 1 alpha and interleukin 1 beta with hig>gg>h affinity. This g>gg>ene and four other interleukin 1 g>receptorg> family g>gg>enes, including>gg> interleukin 1 g>receptorg>, type I (IL1R1), interleukin 1 g>receptorg>, type II (IL1R2), interleukin 1 g>receptorg>-like 1 (IL1RL1), and interleukin 18 g>receptorg> 1 (IL18R1), form a cytokine g>receptorg> g>gg>ene cluster in a reg>gg>ion mapped to chromosome 2q12. [provided by RefSeq, Jul 2008]

IL33R Gene

interleukin 33 g>receptorg>

The protein encoded by this g>gg>ene is a member of the interleukin 1 g>receptorg> family. Studies of the similar g>gg>ene in mouse sug>gg>g>gg>ested that this g>receptorg> can be induced by proinflammatory stimuli, and may be involved in the function of helper T cells. This g>gg>ene, interleukin 1 g>receptorg>, type I (IL1R1), interleukin 1 g>receptorg>, type II (IL1R2) and interleukin 1 g>receptorg>-like 2 (IL1RL2) form a cytokine g>receptorg> g>gg>ene cluster in a reg>gg>ion mapped to chromosome 2q12. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants. [provided by RefSeq, Jul 2008]

TP53I3 Gene

tumor protein p53 inducible protein 3

The protein encoded by this g>gg>ene is similar to oxidoreductases, which are enzymes involved in cellular responses to oxidative stresses and irradiation. This g>gg>ene is induced by the tumor suppressor p53 and is thoug>gg>ht to be involved in p53-mediated cell death. It contains a p53 consensus binding>gg> site in its promoter reg>gg>ion and a downstream pentanucleotide microsatellite sequence. P53 has been shown to transcriptionally activate this g>gg>ene by interacting>gg> with the downstream pentanucleotide microsatellite sequence. The microsatellite is polymorphic, with a varying>gg> number of pentanucleotide repeats directly correlated with the extent of transcriptional activation by p53. It has been sug>gg>g>gg>ested that the microsatellite polymorphism may be associated with differential susceptibility to cancer. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, May 2011]

LOC100533940 Gene

poly(A) binding>gg> protein interacting>gg> protein 1 pseudog>gg>ene

LOC101927309 Gene

BCL2/adenovirus E1B 19 kDa protein-interacting>gg> protein 3-like

LOC100288073 Gene

heat shock 70kDa protein 5 (g>gg>lucose-reg>gg>ulated protein, 78kDa) pseudog>gg>ene

g>Gg>3BP1 Gene

g>Gg>TPase activating>gg> protein (SH3 domain) binding>gg> protein 1

This g>gg>ene encodes one of the DNA-unwinding>gg> enzymes which prefers partially unwound 3'-tailed substrates and can also unwind partial RNA/DNA and RNA/RNA duplexes in an ATP-dependent fashion. This enzyme is a member of the heterog>gg>eneous nuclear RNA-binding>gg> proteins and is also an element of the Ras sig>gg>nal transduction pathway. It binds specifically to the Ras-g>Gg>TPase-activating>gg> protein by associating>gg> with its SH3 domain. Several alternatively spliced transcript variants of this g>gg>ene have been described, but the full-leng>gg>th nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

RASA1 Gene

RAS p21 protein activator (g>Gg>TPase activating>gg> protein) 1

The protein encoded by this g>gg>ene is located in the cytoplasm and is part of the g>Gg>AP1 family of g>Gg>TPase-activating>gg> proteins. The g>gg>ene product stimulates the g>Gg>TPase activity of normal RAS p21 but not its oncog>gg>enic counterpart. Acting>gg> as a suppressor of RAS function, the protein enhances the weak intrinsic g>Gg>TPase activity of RAS proteins resulting>gg> in the inactive g>Gg>DP-bound form of RAS, thereby allowing>gg> control of cellular proliferation and differentiation. Mutations leading>gg> to chang>gg>es in the binding>gg> sites of either protein are associated with basal cell carcinomas. Mutations also have been associated with hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM) and Parkes Weber syndrome. Alternative splicing>gg> results in two isoforms where the shorter isoform, lacking>gg> the N-terminal hydrophobic reg>gg>ion but retaining>gg> the same activity, appears to be abundantly expressed in placental but not adult tissues. [provided by RefSeq, May 2012]

LOC101928777 Gene

BCL2/adenovirus E1B 19 kDa protein-interacting>gg> protein 3 pseudog>gg>ene

LOC644172 Gene

mitog>gg>en-activated protein kinase 8 interacting>gg> protein 1 pseudog>gg>ene

LOC644909 Gene

lig>gg>and of numb-protein X 1, E3 ubiquitin protein lig>gg>ase pseudog>gg>ene

MYCBP2 Gene

MYC binding>gg> protein 2, E3 ubiquitin protein lig>gg>ase

This g>gg>ene encodes an E3 ubiquitin-protein lig>gg>ase and member of the PHR (Phr1/MYCBP2, hig>gg>hwire and RPM-1) family of proteins. The encoded protein plays a role in axon g>gg>uidance and synapse formation in the developing>gg> nervous system. In mammalian cells, this protein reg>gg>ulates the cAMP and mTOR sig>gg>naling>gg> pathways, and may additionally reg>gg>ulate autophag>gg>y. Reduced expression of this g>gg>ene has been observed in acute lymphoblastic leukemia patients and a mutation in this g>gg>ene has been identified in patients with a rare inherited vision defect. [provided by RefSeq, Mar 2017]

MAPKAPK5 Gene

mitog>gg>en-activated protein kinase-activated protein kinase 5

The protein encoded by this g>gg>ene is a tumor suppressor and member of the serine/threonine kinase family. In response to cellular stress and proinflammatory cytokines, this kinase is activated throug>gg>h its phosphorylation by MAP kinases including>gg> MAPK1/ERK, MAPK14/p38-alpha, and MAPK11/p38-beta. The encoded protein is found in the nucleus but translocates to the cytoplasm upon phosphorylation and activation. This kinase phosphorylates heat shock protein HSP27 at its physiolog>gg>ically relevant sites. Two alternately spliced transcript variants of this g>gg>ene encoding>gg> distinct isoforms have been reported. [provided by RefSeq, Nov 2012]

MAPKAPK3 Gene

mitog>gg>en-activated protein kinase-activated protein kinase 3

This g>gg>ene encodes a member of the Ser/Thr protein kinase family. This kinase functions as a mitog>gg>en-activated protein kinase (MAP kinase)- activated protein kinase. MAP kinases are also known as extracellular sig>gg>nal-reg>gg>ulated kinases (ERKs), act as an integ>gg>ration point for multiple biochemical sig>gg>nals. This kinase was shown to be activated by g>gg>rowth inducers and stress stimulation of cells. In vitro studies demonstrated that ERK, p38 MAP kinase and Jun N-terminal kinase were all able to phosphorylate and activate this kinase, which sug>gg>g>gg>ested the role of this kinase as an integ>gg>rative element of sig>gg>naling>gg> in both mitog>gg>en and stress responses. This kinase was reported to interact with, phosphorylate and repress the activity of E47, which is a basic helix-loop-helix transcription factor known to be involved in the reg>gg>ulation of tissue-specific g>gg>ene expression and cell differentiation. Alternate splicing>gg> results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]

MAPKAPK2 Gene

mitog>gg>en-activated protein kinase-activated protein kinase 2

This g>gg>ene encodes a member of the Ser/Thr protein kinase family. This kinase is reg>gg>ulated throug>gg>h direct phosphorylation by p38 MAP kinase. In conjunction with p38 MAP kinase, this kinase is known to be involved in many cellular processes including>gg> stress and inflammatory responses, nuclear export, g>gg>ene expression reg>gg>ulation and cell proliferation. Heat shock protein HSP27 was shown to be one of the substrates of this kinase in vivo. Two transcript variants encoding>gg> two different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

g>Gg>Ng>Gg>5P4 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), g>gg>amma 5 pseudog>gg>ene 4

TP53I11 Gene

tumor protein p53 inducible protein 11

Predicted to be involved in neg>gg>ative reg>gg>ulation of cell population proliferation. Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RNF128 Gene

ring>gg> fing>gg>er protein 128, E3 ubiquitin protein lig>gg>ase

The protein encoded by this g>gg>ene is a type I transmembrane protein that localizes to the endocytic pathway. This protein contains a RINg>Gg> zinc-fing>gg>er motif and has been shown to possess E3 ubiquitin lig>gg>ase activity. Expression of this g>gg>ene in retrovirally transduced T cell hybridoma sig>gg>nificantly inhibits activation-induced IL2 and IL4 cytokine production. Induced expression of this g>gg>ene was observed in anerg>gg>ic CD4(+) T cells, which sug>gg>g>gg>ested a role in the induction of anerg>gg>ic phenotype. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

RNF125 Gene

ring>gg> fing>gg>er protein 125, E3 ubiquitin protein lig>gg>ase

This g>gg>ene encodes a novel E3 ubiquitin lig>gg>ase that contains a RINg>Gg> fing>gg>er domain in the N-terminus and three zinc-binding>gg> and one ubiquitin-interacting>gg> motif in the C-terminus. As a result of myristoylation, this protein associates with membranes and is primarily localized to intracellular membrane systems. The encoded protein may function as a positive reg>gg>ulator in the T-cell g>receptorg> sig>gg>naling>gg> pathway. [provided by RefSeq, Mar 2012]

MAPK1IP1L Gene

mitog>gg>en-activated protein kinase 1 interacting>gg> protein 1-like

g>Gg>Ng>Gg>10P1 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), g>gg>amma 10 pseudog>gg>ene 1

APBB1IP Gene

amyloid beta (A4) precursor protein-binding>gg>, family B, member 1 interacting>gg> protein

Predicted to be involved in sig>gg>nal transduction. Predicted to act upstream of or within T cell activation via T cell g>receptorg> contact with antig>gg>en bound to MHC molecule on antig>gg>en presenting>gg> cell and positive reg>gg>ulation of cell adhesion. Located in cytosol and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>Ng>Gg>5P1 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), g>gg>amma 5 pseudog>gg>ene 1

g>Gg>Ng>Gg>5P3 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), g>gg>amma 5 pseudog>gg>ene 3

g>Gg>Ng>Gg>5P2 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), g>gg>amma 5 pseudog>gg>ene 2

Predicted to enable g>Gg>-protein beta-subunit binding>gg> activity. Predicted to be involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway. Predicted to be located in plasma membrane. Predicted to be part of heterotrimeric g>Gg>-protein complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>Ng>Gg>5P5 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), g>gg>amma 5 pseudog>gg>ene 5

TP53I13 Gene

tumor protein p53 inducible protein 13

Involved in several processes, including>gg> neg>gg>ative reg>gg>ulation of cell cycle; response to UV; and response to xenobiotic stimulus. Located in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC101927789 Gene

putative ubiquitin-like protein FUBI-like protein ENSP00000310146

MAPKBP1 Gene

mitog>gg>en-activated protein kinase binding>gg> protein 1

This g>gg>ene encodes a scaffold protein that reg>gg>ulates the JNK (c-Jun N-terminal kinase) and NOD2 (nucleotide-binding>gg> olig>gg>omerization domain-containing>gg> protein 2) sig>gg>naling>gg> pathways. The encoded protein interacts with another related JNK pathway scaffold protein, WDR62, via a conserved dimerization domain, and enhances JNK sig>gg>naling>gg>. This protein may play a role in bacterial immunity by binding>gg> to the NOD2 g>receptorg> and neg>gg>atively reg>gg>ulating>gg> downstream antibacterial and pro-inflammatory sig>gg>naling>gg>. Mutations in this g>gg>ene that impair cellular localization of the encoded protein cause a form of nephronophthisis, an autosomal-recessive kidney disorder, in human patients. [provided by RefSeq, May 2017]

LOC102724042 Gene

BCL2/adenovirus E1B 19 kDa protein-interacting>gg> protein 3 pseudog>gg>ene

g>Gg>NB2L1 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), beta polypeptide 2-like 1

Enables several functions, including>gg> cyclin binding>gg> activity; enzyme binding>gg> activity; and protein domain specific binding>gg> activity. Involved in several processes, including>gg> reg>gg>ulation of protein metabolic process; reg>gg>ulation of sig>gg>nal transduction; and reg>gg>ulation of vesicle-mediated transport. Located in several cellular components, including>gg> midbody; perinuclear reg>gg>ion of cytoplasm; and phag>gg>ocytic cup. Part of IRE1-RACK1-PP2A complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TP53BP1 Gene

tumor protein p53 binding>gg> protein 1

This g>gg>ene encodes a protein that functions in the DNA double-strand break repair pathway choice, promoting>gg> non-homolog>gg>ous end joining>gg> (NHEJ) pathways, and limiting>gg> homolog>gg>ous recombination. This protein plays multiple roles in the DNA damag>gg>e response, including>gg> promoting>gg> checkpoint sig>gg>naling>gg> following>gg> DNA damag>gg>e, acting>gg> as a scaffold for recruitment of DNA damag>gg>e response proteins to damag>gg>ed chromatin, and promoting>gg> NHEJ pathways by limiting>gg> end resection following>gg> a double-strand break. These roles are also important during>gg> V(D)J recombination, class switch recombination and at unprotected telomeres. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Aug>gg> 2017]

TP53BP2 Gene

tumor protein p53 binding>gg> protein 2

This g>gg>ene encodes a member of the ASPP (apoptosis-stimulating>gg> protein of p53) family of p53 interacting>gg> proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. It is localized to the perinuclear reg>gg>ion of the cytoplasm, and reg>gg>ulates apoptosis and cell g>gg>rowth throug>gg>h interactions with other reg>gg>ulatory molecules including>gg> members of the p53 family. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

LOC102723528 Gene

BCL2/adenovirus E1B 19 kDa protein-interacting>gg> protein 3 pseudog>gg>ene

MAPK8IPP Gene

mitog>gg>en-activated protein kinase 8 interacting>gg> protein, pseudog>gg>ene

LOC346329 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), alpha 11 (g>Gg>q class) pseudog>gg>ene

RNF138P1 Gene

ring>gg> fing>gg>er protein 138, E3 ubiquitin protein lig>gg>ase pseudog>gg>ene 1

LOC100287794 Gene

double homeobox protein 4-like protein 4

g>Gg>NA14 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), alpha 14

This g>gg>ene encodes a member of the g>gg>uanine nucleotide-binding>gg>, or g>Gg> protein family. g>Gg> proteins are heterotrimers consisting>gg> of alpha, beta and g>gg>amma subunits. The encoded protein is a member of the alpha family of g>Gg> proteins, more specifically the alpha q subfamily of g>Gg> proteins. The encoded protein may play a role in pertussis-toxin resistant activation of phospholipase C-beta and its downstream effectors.[provided by RefSeq, Feb 2009]

g>Gg>NA15 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), alpha 15 (g>Gg>q class)

Enables g>Gg> g>protein-coupledg> g>receptorg> binding>gg> activity. Acts upstream of or within with a positive effect on calcium-mediated sig>gg>naling>gg>. Predicted to be located in plasma membrane. Predicted to be part of heterotrimeric g>Gg>-protein complex. Predicted to be active in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>NA12 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein) alpha 12

Enables g>Gg> protein activity; protein phosphatase 2A binding>gg> activity; and protein phosphatase activator activity. Involved in reg>gg>ulation of TOR sig>gg>naling>gg> and reg>gg>ulation of proteasomal ubiquitin-dependent protein catabolic process. Located in lateral plasma membrane; neuron projection; and neuronal cell body. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>NA13 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), alpha 13

Enables g>Gg> protein activity. Involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway. Located in cytosol and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>NA11 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), alpha 11 (g>Gg>q class)

The protein encoded by this g>gg>ene belong>gg>s to the family of g>gg>uanine nucleotide-binding>gg> proteins (g>Gg> proteins), which function as modulators or transducers in various transmembrane sig>gg>naling>gg> systems. g>Gg> proteins are composed of 3 units: alpha, beta and g>gg>amma. This g>gg>ene encodes one of the alpha subunits (subunit alpha-11). Mutations in this g>gg>ene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2). Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to chang>gg>es in extracellular calcium concentrations. [provided by RefSeq, Dec 2013]

PRKCDBP Gene

protein kinase C, delta binding>gg> protein

The protein encoded by this g>gg>ene was identified as a binding>gg> protein of the protein kinase C, delta (PRKCD). The expression of this g>gg>ene in cultured cell lines is strong>gg>ly induced by serum starvation. The expression of this protein was found to be down-reg>gg>ulated in various cancer cell lines, sug>gg>g>gg>esting>gg> the possible tumor suppressor function of this protein. [provided by RefSeq, Jul 2008]

TP53AIP1 Gene

tumor protein p53 reg>gg>ulated apoptosis inducing>gg> protein 1

This g>gg>ene is specifically expressed in the thymus, and encodes a protein that is localized to the mitochondrion. The expression of this g>gg>ene is inducible by p53, and it is thoug>gg>ht to play an important role in mediating>gg> p53-dependent apoptosis. Alternatively spliced transcript variants encoding>gg> different isoforms have been described for this g>gg>ene. [provided by RefSeq, Oct 2011]

NUFIP2 Gene

nuclear frag>gg>ile X mental retardation protein interacting>gg> protein 2

Enables RNA binding>gg> activity. Located in several cellular components, including>gg> cytoplasmic stress g>gg>ranule; nuclear body; and ribosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NUFIP1 Gene

nuclear frag>gg>ile X mental retardation protein interacting>gg> protein 1

This g>gg>ene encodes a nuclear RNA binding>gg> protein that contains a C2H2 zinc fing>gg>er motif and a nuclear localization sig>gg>nal. This protein is associated with the nuclear matrix in perichromatin fibrils and, in neurons, localizes to the cytoplasm in association with endoplasmic reticulum ribosomes. This protein interacts with the frag>gg>ile X mental retardation protein (FMRP), the tumor suppressor protein BRCA1, upreg>gg>ulates RNA polymerase II transcription, and is involved in box C/D snoRNP biog>gg>enesis. A pseudog>gg>ene of this g>gg>ene resides on chromosome 6q12. [provided by RefSeq, Feb 2012]

RNF19A Gene

ring>gg> fing>gg>er protein 19A, RBR E3 ubiquitin protein lig>gg>ase

This g>gg>ene encodes a member of the ring>gg> between ring>gg> fing>gg>ers (RBR) protein family, and the encoded protein contains two RINg>Gg>-fing>gg>er motifs and an in between RINg>Gg> fing>gg>ers motif. This protein is an E3 ubiquitin lig>gg>ase that is localized to Lewy bodies, and ubiquitylates synphilin-1, which is an interacting>gg> protein of alpha synuclein in neurons. The encoded protein may be involved in amyotrophic lateral sclerosis and Parkinson's disease. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2013]

g>Gg>Ng>Gg>7 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), g>gg>amma 7

Predicted to enable g>Gg>-protein beta-subunit binding>gg> activity. Predicted to be involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway and reg>gg>ulation of adenylate cyclase activity. Predicted to act upstream of or within behavioral fear response; locomotory behavior; and g>receptorg> g>gg>uanylyl cyclase sig>gg>naling>gg> pathway. Located in extracellular exosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>Ng>Gg>4 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), g>gg>amma 4

Predicted to enable g>Gg>-protein beta-subunit binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of cell g>gg>rowth. Located in extracellular exosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>Ng>Gg>5 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), g>gg>amma 5

g>Gg> proteins are trimeric (alpha-beta-g>gg>amma) membrane-associated proteins that reg>gg>ulate flow of information from cell surface g>receptorg>s to a variety of internal metabolic effectors. Interaction of a g>Gg> protein with its activated g>receptorg> promotes exchang>gg>e of g>Gg>TP for g>Gg>DP that is bound to the alpha subunit. The alpha-g>Gg>TP complex dissociates from the beta-g>gg>amma heterodimer so that the subunits, in turn, may interact with and reg>gg>ulate effector molecules (g>Gg>ilman, 1987 [PubMed 3113327]; summary by Ahmad et al., 1995) [PubMed 7606925].[supplied by OMIM, Nov 2010]

g>Gg>Ng>Gg>2 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), g>gg>amma 2

This g>gg>ene encodes one of the g>gg>amma subunits of a g>gg>uanine nucleotide-binding>gg> protein. Such proteins are involved in sig>gg>naling>gg> mechanisms across membranes. Various subunits forms heterodimers which then interact with the different sig>gg>nal molecules. [provided by RefSeq, Aug>gg> 2011]

g>Gg>Ng>Gg>3 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), g>gg>amma 3

g>Gg>uanine nucleotide binding>gg> proteins are heterotrimeric sig>gg>nal-transducing>gg> molecules consisting>gg> of alpha, beta, and g>gg>amma subunits. The g>gg>amma subunit determines the specificity of which sig>gg>naling>gg> pathways will be affected by this particular complex. The protein encoded by this g>gg>ene represents the g>gg>amma subunit of both inhibitory and stimulatory complexes. [provided by RefSeq, Jan 2012]

g>Gg>Ng>Gg>8 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), g>gg>amma 8

Predicted to enable g>Gg>-protein beta-subunit binding>gg> activity. Predicted to be involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway. Predicted to act upstream of or within cellular response to pheromone; nose development; and social behavior. Predicted to be located in plasma membrane. Predicted to be part of heterotrimeric g>Gg>-protein complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC101930078 Gene

double homeobox protein 4-like protein 4

VAPB Gene

VAMP (vesicle-associated membrane protein)-associated protein B and C

The protein encoded by this g>gg>ene is a type IV membrane protein found in plasma and intracellular vesicle membranes. The encoded protein is found as a homodimer and as a heterodimer with VAPA. This protein also can interact with VAMP1 and VAMP2 and may be involved in vesicle trafficking>gg>. [provided by RefSeq, Jul 2008]

VAPA Gene

VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa

The protein encoded by this g>gg>ene is a type IV membrane protein. It is present in the plasma membrane and intracellular vesicles. It may also be associated with the cytoskeleton. This protein may function in vesicle trafficking>gg>, membrane fusion, protein complex assembly and cell motility. Alternative splicing>gg> occurs at this locus and two transcript variants encoding>gg> distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

SKP2 Gene

S-phase kinase-associated protein 2, E3 ubiquitin protein lig>gg>ase

This g>gg>ene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein lig>gg>ase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing>gg> WD-40 domains, Fbls containing>gg> leucine-rich repeats, and Fbxs containing>gg> either different protein-protein interaction modules or no recog>gg>nizable motifs. The protein encoded by this g>gg>ene belong>gg>s to the Fbls class; in addition to an F-box, this protein contains 10 tandem leucine-rich repeats. This protein is an essential element of the cyclin A-CDK2 S-phase kinase. It specifically recog>gg>nizes phosphorylated cyclin-dependent kinase inhibitor 1B (CDKN1B, also referred to as p27 or KIP1) predominantly in S phase and interacts with S-phase kinase-associated protein 1 (SKP1 or p19). In addition, this g>gg>ene is established as a protooncog>gg>ene causally involved in the pathog>gg>enesis of lymphomas. Alternative splicing>gg> of this g>gg>ene g>gg>enerates three transcript variants encoding>gg> different isoforms. [provided by RefSeq, Jul 2011]

LOC101060346 Gene

T-complex protein 11 X-linked protein 2-like

LOC101928467 Gene

BCL2/adenovirus E1B 19 kDa protein-interacting>gg> protein 3 pseudog>gg>ene

PPFIBP1 Gene

PTPRF interacting>gg> protein, binding>gg> protein 1 (liprin beta 1)

The protein encoded by this g>gg>ene is a member of the LAR protein-tyrosine phosphatase-interacting>gg> protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon g>gg>uidance and mammary g>gg>land development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring>gg> of LAR family of tyrosine phosphatases. This protein was found to interact with S100A4, a calcium-binding>gg> protein related to tumor invasiveness and metastasis. In vitro experiment demonstrated that the interaction inhibited the phosphorylation of this protein by protein kinase C and protein kinase CK2. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

PPFIBP2 Gene

PTPRF interacting>gg> protein, binding>gg> protein 2 (liprin beta 2)

This g>gg>ene encodes a member of the LAR protein-tyrosine phosphatase-interacting>gg> protein (liprin) family. The encoded protein is a beta liprin and plays a role in axon g>gg>uidance and neuronal synapse development by recruiting>gg> LAR protein-tyrosine phosphatases to the plasma membrane. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Feb 2012]

LOC728098 Gene

mitog>gg>en-activated protein kinase 1 interacting>gg> protein 1-like pseudog>gg>ene

LCP2 Gene

lymphocyte cytosolic protein 2 (SH2 domain containing>gg> leukocyte protein of 76kDa)

This g>gg>ene encodes an adapter protein that acts as a substrate of the T cell antig>gg>en g>receptorg> (TCR)-activated protein tyrosine kinase pathway. The encoded protein associates with g>gg>rowth factor g>receptorg> bound protein 2, and is thoug>gg>ht to play a role TCR-mediated intracellular sig>gg>nal transduction. A similar protein in mouse plays a role in normal T-cell development and activation. Mice lacking>gg> this g>gg>ene show subcutaneous and intraperitoneal fetal hemorrhag>gg>ing>gg>, dysfunctional platelets and impaired viability. [provided by RefSeq, Nov 2016]

g>Gg>NAQP1 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), q polypeptide pseudog>gg>ene 1

MAPK8IP1 Gene

mitog>gg>en-activated protein kinase 8 interacting>gg> protein 1

This g>gg>ene encodes a reg>gg>ulator of the pancreatic beta-cell function. It is hig>gg>hly similar to JIP-1, a mouse protein known to be a reg>gg>ulator of c-Jun amino-terminal kinase (Mapk8). This protein has been shown to prevent MAPK8 mediated activation of transcription factors, and to decrease IL-1 beta and MAP kinase kinase 1 (MEKK1) induced apoptosis in pancreatic beta cells. This protein also functions as a DNA-binding>gg> transactivator of the g>gg>lucose transporter g>Gg>LUT2. RE1-silencing>gg> transcription factor (REST) is reported to repress the expression of this g>gg>ene in insulin-secreting>gg> beta cells. This g>gg>ene is found to be mutated in a type 2 diabetes family, and thus is thoug>gg>ht to be a susceptibility g>gg>ene for type 2 diabetes. [provided by RefSeq, May 2011]

MAPK8IP2 Gene

mitog>gg>en-activated protein kinase 8 interacting>gg> protein 2

This g>gg>ene encodes a scaffold protein that is thoug>gg>ht to be involved in the reg>gg>ulation of the c-Jun amino-terminal kinase sig>gg>naling>gg> pathway. This protein has been shown to interact with and reg>gg>ulate the activity of MAPK8/JNK1 and MAP2K7/MKK7 kinases. [provided by RefSeq, Jun 2017]

MAPK8IP3 Gene

mitog>gg>en-activated protein kinase 8 interacting>gg> protein 3

The protein encoded by this g>gg>ene shares similarity with the product of Drosophila syd g>gg>ene, required for the functional interaction of kinesin I with axonal carg>gg>o. Studies of the similar g>gg>ene in mouse sug>gg>g>gg>ested that this protein may interact with, and reg>gg>ulate the activity of numerous protein kinases of the JNK sig>gg>naling>gg> pathway, and thus function as a scaffold protein in neuronal cells. The C. eleg>gg>ans counterpart of this g>gg>ene is found to reg>gg>ulate synaptic vesicle transport possibly by integ>gg>rating>gg> JNK sig>gg>naling>gg> and kinesin-1 transport. Several alternatively spliced transcript variants of this g>gg>ene have been described, but the full-leng>gg>th nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

PAIP1P1 Gene

poly(A) binding>gg> protein interacting>gg> protein 1 pseudog>gg>ene 1

LOC105373377 Gene

putative paraneoplastic antig>gg>en-like protein 6B-like protein LOC649238

g>Gg>NB5 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), beta 5

Heterotrimeric g>gg>uanine nucleotide-binding>gg> proteins (g>Gg> proteins), which integ>gg>rate sig>gg>nals between g>receptorg>s and effector proteins, are composed of an alpha, a beta, and a g>gg>amma subunit. These subunits are encoded by families of related g>gg>enes. This g>gg>ene encodes a beta subunit. Beta subunits are important reg>gg>ulators of alpha subunits, as well as of certain sig>gg>nal transduction g>receptorg>s and effectors. Alternatively spliced transcript variants encoding>gg> different isoforms exist. [provided by RefSeq, Jul 2008]

g>Gg>NB4 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), beta polypeptide 4

Heterotrimeric g>gg>uanine nucleotide-binding>gg> proteins (g>Gg> proteins), which integ>gg>rate sig>gg>nals between g>receptorg>s and effector proteins, are composed of an alpha, a beta, and a g>gg>amma subunit. These subunits are encoded by families of related g>gg>enes. This g>gg>ene encodes a beta subunit. Beta subunits are important reg>gg>ulators of alpha subunits, as well as of certain sig>gg>nal transduction g>receptorg>s and effectors. [provided by RefSeq, Jul 2008]

g>Gg>NB1 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), beta polypeptide 1

Heterotrimeric g>gg>uanine nucleotide-binding>gg> proteins (g>Gg> proteins), which integ>gg>rate sig>gg>nals between g>receptorg>s and effector proteins, are composed of an alpha, a beta, and a g>gg>amma subunit. These subunits are encoded by families of related g>gg>enes. This g>gg>ene encodes a beta subunit. Beta subunits are important reg>gg>ulators of alpha subunits, as well as of certain sig>gg>nal transduction g>receptorg>s and effectors. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Sep 2013]

g>Gg>NB3 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), beta polypeptide 3

Heterotrimeric g>gg>uanine nucleotide-binding>gg> proteins (g>Gg> proteins), which integ>gg>rate sig>gg>nals between g>receptorg>s and effector proteins, are composed of an alpha, a beta, and a g>gg>amma subunit. These subunits are encoded by families of related g>gg>enes. This g>gg>ene encodes a beta subunit which belong>gg>s to the WD repeat g>Gg> protein beta family. Beta subunits are important reg>gg>ulators of alpha subunits, as well as of certain sig>gg>nal transduction g>receptorg>s and effectors. A sing>gg>le-nucleotide polymorphism (C825T) in this g>gg>ene is associated with essential hypertension and obesity. This polymorphism is also associated with the occurrence of the splice variant g>Gg>NB3-s, which appears to have increased activity. g>Gg>NB3-s is an example of alternative splicing>gg> caused by a nucleotide chang>gg>e outside of the splice donor and acceptor sites. Alternative splicing>gg> results in multiple transcript variants. Additional alternatively spliced transcript variants of this g>gg>ene have been described, but their full-leng>gg>th nature is not known. [provided by RefSeq, Jul 2014]

g>Gg>NB2 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), beta polypeptide 2

Heterotrimeric g>gg>uanine nucleotide-binding>gg> proteins (g>Gg> proteins), which integ>gg>rate sig>gg>nals between g>receptorg>s and effector proteins, are composed of an alpha, a beta, and a g>gg>amma subunit. These subunits are encoded by families of related g>gg>enes. This g>gg>ene encodes a beta subunit. Beta subunits are important reg>gg>ulators of alpha subunits, as well as of certain sig>gg>nal transduction g>receptorg>s and effectors. This g>gg>ene contains a trinucleotide (CCg>Gg>) repeat leng>gg>th polymorphism in its 5' UTR. [provided by RefSeq, Jul 2008]

PAIP2 Gene

poly(A) binding>gg> protein interacting>gg> protein 2

Enables translation repressor activity. Involved in neg>gg>ative reg>gg>ulation of translational initiation. Located in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PAIP1 Gene

poly(A) binding>gg> protein interacting>gg> protein 1

The protein encoded by this g>gg>ene interacts with poly(A)-binding>gg> protein and with the cap-binding>gg> complex eIF4A. It is involved in translational initiation and protein biosynthesis. Overexpression of this g>gg>ene in COS7 cells stimulates translation. Alternative splicing>gg> occurs at this locus and three transcript variants encoding>gg> three distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

NUFIP1P Gene

nuclear frag>gg>ile X mental retardation protein interacting>gg> protein 1 pseudog>gg>ene

g>Gg>NAI2P2 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), alpha inhibiting>gg> activity polypeptide 2 pseudog>gg>ene 2

g>Gg>NAI2P1 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), alpha inhibiting>gg> activity polypeptide 2 pseudog>gg>ene 1

TP53BP2P1 Gene

tumor protein p53 binding>gg> protein 2 pseudog>gg>ene 1

RNF138P2 Gene

ring>gg> fing>gg>er protein 138, E3 ubiquitin protein lig>gg>ase pseudog>gg>ene 2

LOC648044 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), g>gg>amma 12-like

MAP3K1 Gene

mitog>gg>en-activated protein kinase kinase kinase 1, E3 ubiquitin protein lig>gg>ase

The protein encoded by this g>gg>ene is a serine/threonine kinase and is part of some sig>gg>nal transduction cascades, including>gg> the ERK and JNK kinase pathways as well as the NF-kappa-B pathway. The encoded protein is activated by autophosphorylation and requires mag>gg>nesium as a cofactor in phosphorylating>gg> other proteins. This protein has E3 lig>gg>ase activity conferred by a plant homeodomain (PHD) in its N-terminus and phospho-kinase activity conferred by a kinase domain in its C-terminus. [provided by RefSeq, Mar 2012]

APPBP2 Gene

amyloid beta precursor protein (cytoplasmic tail) binding>gg> protein 2

The protein encoded by this g>gg>ene interacts with microtubules and is functionally associated with beta-amyloid precursor protein transport and/or processing>gg>. The beta-amyloid precursor protein is a cell surface protein with sig>gg>nal-transducing>gg> properties, and it is thoug>gg>ht to play a role in the pathog>gg>enesis of Alzheimer's disease. The encoded protein may be involved in reg>gg>ulating>gg> cell death. This g>gg>ene has been found to be hig>gg>hly expressed in breast cancer. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Sep 2013]

TP53INP1 Gene

tumor protein p53 inducible nuclear protein 1

Predicted to enable antioxidant activity. Involved in autophag>gg>ic cell death; positive reg>gg>ulation of DNA-templated transcription; and positive reg>gg>ulation of autophag>gg>y. Located in autophag>gg>osome; cytosol; and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TP53INP2 Gene

tumor protein p53 inducible nuclear protein 2

The protein encoded by this g>gg>ene promotes autophag>gg>y and is essential for proper autophag>gg>osome formation and processing>gg>. In addition, the encoded protein can enhance rDNA transcription by helping>gg> in the assembly of the POLR1/RNA polymerase I preinitiation complex. Finally, this protein serves as a transcriptional activator for some g>gg>enes. [provided by RefSeq, Jul 2016]

RNF34 Gene

ring>gg> fing>gg>er protein 34, E3 ubiquitin protein lig>gg>ase

The protein encoded by this g>gg>ene contains a RINF fing>gg>er, a motif known to be involved in protein-protein and protein-DNA interactions. This protein interacts with DNAJA3/hTid-1, which is a DnaJ protein reported to function as a modulator of apoptosis. Overexpression of this g>gg>ene in Hela cells was shown to confer the resistance to TNF-alpha induced apoptosis, sug>gg>g>gg>esting>gg> an anti-apoptotic function of this protein. This protein can be cleaved by caspase-3 during>gg> the induction of apoptosis. This protein also targ>gg>ets p53 and phospho-p53 for deg>gg>radation. Alternatively splicing>gg> results in multiple transcript variants encoding>gg> distinct isoforms. [provided by RefSeq, Feb 2012]

TP53COR1 Gene

tumor protein p53 pathway corepressor 1 (non-protein coding>gg>)

Predicted to act upstream of or within neg>gg>ative reg>gg>ulation of g>gg>ene expression. Predicted to be part of ribonucleoprotein complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100130500 Gene

S-phase kinase-associated protein 2, E3 ubiquitin protein lig>gg>ase pseudog>gg>ene

LOC100533943 Gene

poly(A) binding>gg> protein interacting>gg> protein 1 pseudog>gg>ene

LOC100533942 Gene

poly(A) binding>gg> protein interacting>gg> protein 1 pseudog>gg>ene

LOC100533941 Gene

poly(A) binding>gg> protein interacting>gg> protein 1 pseudog>gg>ene

LOC100533949 Gene

mitog>gg>en-activated protein kinase 8 interacting>gg> protein 1 pseudog>gg>ene

RNF138 Gene

ring>gg> fing>gg>er protein 138, E3 ubiquitin protein lig>gg>ase

The protein encoded by this g>gg>ene contains a RINg>Gg> fing>gg>er, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

g>Gg>NAQ Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), q polypeptide

This locus encodes a g>gg>uanine nucleotide-binding>gg> protein. The encoded protein, an alpha subunit in the g>Gg>q class, couples a seven-transmembrane domain g>receptorg> to activation of phospolipase C-beta. Mutations at this locus have been associated with problems in platelet activation and ag>gg>g>gg>reg>gg>ation. A related pseudog>gg>ene exists on chromosome 2.[provided by RefSeq, Nov 2010]

g>Gg>NAZ Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), alpha z polypeptide

The protein encoded by this g>gg>ene is a member of a g>Gg> protein subfamily that mediates sig>gg>nal transduction in pertussis toxin-insensitive systms. This encoded protein may play a role in maintaining>gg> the ionic balance of perilymphatic and endolymphatic cochlear fluids. [provided by RefSeq, Jul 2008]

g>Gg>NAL Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), alpha activating>gg> activity polypeptide, olfactory type

This g>gg>ene encodes a stimulatory g>Gg> protein alpha subunit which mediates odorant sig>gg>naling>gg> in the olfactory epithelium. This protein couples dopamine type 1 g>receptorg>s and adenosine A2A g>receptorg>s and is widely expressed in the central nervous system. Mutations in this g>gg>ene have been associated with dystonia 25 and this g>gg>ene is located in a susceptibility reg>gg>ion for bipolar disorder and schizophrenia. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Dec 2013]

RNF8 Gene

ring>gg> fing>gg>er protein 8, E3 ubiquitin protein lig>gg>ase

The protein encoded by this g>gg>ene contains a RINg>Gg> fing>gg>er motif and an FHA domain. This protein has been shown to interact with several class II ubiquitin-conjug>gg>ating>gg> enzymes (E2), including>gg> UBE2E1/UBCH6, UBE2E2, and UBE2E3, and may act as an ubiquitin lig>gg>ase (E3) in the ubiquitination of certain nuclear proteins. This protein is also known to play a role in the DNA damag>gg>e response and depletion of this protein causes cell g>gg>rowth inhibition and cell cycle arrest. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Feb 2012]

RNF5 Gene

ring>gg> fing>gg>er protein 5, E3 ubiquitin protein lig>gg>ase

The protein encoded by this g>gg>ene contains a RINg>Gg> fing>gg>er, which is a motif known to be involved in protein-protein interactions. This protein is a membrane-bound ubiquitin lig>gg>ase. It can reg>gg>ulate cell motility by targ>gg>eting>gg> paxillin ubiquitination and altering>gg> the distribution and localization of paxillin in cytoplasm and cell focal adhesions. [provided by RefSeq, Jul 2008]

TMEM129 Gene

transmembrane protein 129, E3 ubiquitin protein lig>gg>ase

Enables ubiquitin protein lig>gg>ase activity. Involved in protein polyubiquitination; retrog>gg>rade protein transport, ER to cytosol; and ubiquitin-dependent protein catabolic process. Located in endoplasmic reticulum. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RNF5P1 Gene

ring>gg> fing>gg>er protein 5, E3 ubiquitin protein lig>gg>ase pseudog>gg>ene 1

g>Gg>Ng>Gg>10 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), g>gg>amma 10

Predicted to enable g>Gg>-protein beta-subunit binding>gg> activity. Predicted to be involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway. Predicted to be located in plasma membrane. Predicted to be part of heterotrimeric g>Gg>-protein complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>Ng>Gg>11 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), g>gg>amma 11

This g>gg>ene is a member of the g>gg>uanine nucleotide-binding>gg> protein (g>Gg> protein) g>gg>amma family and encodes a lipid-anchored, cell membrane protein. As a member of the heterotrimeric g>Gg> protein complex, this protein plays a role in this transmembrane sig>gg>naling>gg> system. This protein is also subject to carboxyl-terminal processing>gg>. Decreased expression of this g>gg>ene is associated with splenic marg>gg>inal zone lymphomas. [provided by RefSeq, Jul 2008]

g>Gg>Ng>Gg>12 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), g>gg>amma 12

Enables PDZ domain binding>gg> activity. Predicted to be involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway. Located in extracellular exosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>Ng>Gg>13 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), g>gg>amma 13

Heterotrimeric g>Gg> proteins, which consist of alpha (see MIM 139320), beta (see MIM 139380), and g>gg>amma subunits, function as sig>gg>nal transducers for the 7-transmembrane-helix g>Gg> g>protein-coupledg> g>receptorg>s. g>Gg>Ng>Gg>13 is a g>gg>amma subunit that is expressed in taste, retinal, and neuronal tissues and plays a key role in taste transduction (Li et al., 2006 [PubMed 16473877]).[supplied by OMIM, Oct 2009]

ELK3 Gene

ELK3, ETS-domain protein (SRF accessory protein 2)

This g>gg>ene encodes a member of the ETS-domain transcription factor family and the ternary complex factor (TCF) subfamily. Proteins in this subfamily reg>gg>ulate transcription when recruited by serum response factor to bind to serum response elements. This protein is activated by sig>gg>nal-induced phosphorylation; studies in rodents sug>gg>g>gg>est that it is a transcriptional inhibitor in the absence of Ras, but activates transcription when Ras is present. Alternate splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jan 2015]

ELK4 Gene

ELK4, ETS-domain protein (SRF accessory protein 1)

This g>gg>ene is a member of the Ets family of transcription factors and of the ternary complex factor (TCF) subfamily. Proteins of the TCF subfamily form a ternary complex by binding>gg> to the the serum response factor and the serum reponse element in the promoter of the c-fos proto-oncog>gg>ene. The protein encoded by this g>gg>ene is phosphorylated by the kinases, MAPK1 and MAPK8. Several transcript variants have been described for this g>gg>ene. [provided by RefSeq, Jul 2008]

g>Gg>NAO1 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), alpha activating>gg> activity polypeptide O

The protein encoded by this g>gg>ene represents the alpha subunit of the g>Gg>o heterotrimeric g>Gg>-protein sig>gg>nal-transducing>gg> complex. Defects in this g>gg>ene are a cause of early-onset epileptic encephalopathy. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Aug>gg> 2015]

g>Gg>NAT1 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), alpha transducing>gg> activity polypeptide 1

Transducin is a 3-subunit g>gg>uanine nucleotide-binding>gg> protein (g>Gg> protein) which stimulates the coupling>gg> of rhodopsin and cg>Gg>MP-phoshodiesterase during>gg> visual impulses. The transducin alpha subunits in rods and cones are encoded by separate g>gg>enes. This g>gg>ene encodes the alpha subunit in rods. This g>gg>ene is also expressed in other cells, and has been implicated in bitter taste transduction in rat taste cells. Mutations in this g>gg>ene result in autosomal dominant cong>gg>enital stationary nig>gg>ht blindness. Multiple alternatively spliced variants, encoding>gg> the same protein, have been identified. [provided by RefSeq, Feb 2009]

g>Gg>NAT2 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), alpha transducing>gg> activity polypeptide 2

Transducin is a 3-subunit g>gg>uanine nucleotide-binding>gg> protein (g>Gg> protein) which stimulates the coupling>gg> of rhodopsin and cg>Gg>MP-phoshodiesterase during>gg> visual impulses. The transducin alpha subunits in rods and cones are encoded by separate g>gg>enes. This g>gg>ene encodes the alpha subunit in cones. [provided by RefSeq, Jul 2008]

LOC100418622 Gene

poly(A) binding>gg> protein interacting>gg> protein 1 pseudog>gg>ene

LOC100418623 Gene

poly(A) binding>gg> protein interacting>gg> protein 1 pseudog>gg>ene

LOC100418620 Gene

poly(A) binding>gg> protein interacting>gg> protein 1 pseudog>gg>ene

LOC101928960 Gene

BCL2/adenovirus E1B 19 kDa protein-interacting>gg> protein 3 pseudog>gg>ene

PAIP2B Gene

poly(A) binding>gg> protein interacting>gg> protein 2B

Most mRNAs, except for histones, contain a 3-prime poly(A) tail. Poly(A)-binding>gg> protein (PABP; see MIM 604679) enhances translation by circularizing>gg> mRNA throug>gg>h its interaction with the translation initiation factor EIF4g>Gg>1 (MIM 600495) and the poly(A) tail. Various PABP-binding>gg> proteins reg>gg>ulate PABP activity, including>gg> PAIP1 (MIM 605184), a translational stimulator, and PAIP2A (MIM 605604) and PAIP2B, translational inhibitors (Derry et al., 2006 [PubMed 17381337]).[supplied by OMIM, Mar 2008]

LOC391465 Gene

STIP1 homolog>gg>y and U-box containing>gg> protein 1, E3 ubiquitin protein lig>gg>ase pseudog>gg>ene

LOC105372731 Gene

CMT1A duplicated reg>gg>ion transcript 15 protein-like protein

LOC100422438 Gene

mitog>gg>en-activated protein kinase-activated protein kinase 2 pseudog>gg>ene

HP1BP3 Gene

heterochromatin protein 1, binding>gg> protein 3

Enables DNA binding>gg> activity and nucleosome binding>gg> activity. Involved in several processes, including>gg> cellular response to hypoxia; heterochromatin org>gg>anization; and reg>gg>ulation of nucleus size. Located in chromosome and nuclear speck. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100418685 Gene

mitog>gg>en-activated protein kinase 8 interacting>gg> protein 1 pseudog>gg>ene

LOC100418686 Gene

mitog>gg>en-activated protein kinase 8 interacting>gg> protein 1 pseudog>gg>ene

LOC100418687 Gene

mitog>gg>en-activated protein kinase 8 interacting>gg> protein 1 pseudog>gg>ene

RNF41 Gene

ring>gg> fing>gg>er protein 41, E3 ubiquitin protein lig>gg>ase

This g>gg>ene encodes an E3 ubiquitin lig>gg>ase. The encoded protein plays a role in type 1 cytokine g>receptorg> sig>gg>naling>gg> by controlling>gg> the balance between JAK2-associated cytokine g>receptorg> deg>gg>radation and ectodomain shedding>gg>. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jun 2011]

LOC102724961 Gene

double homeobox protein 4-like protein 4

RPS19BP1 Gene

ribosomal protein S19 binding>gg> protein 1

Enables enzyme binding>gg> activity. Involved in ribosomal small subunit biog>gg>enesis. Located in cytosol; nucleolus; and nucleoplasm. Part of small-subunit processome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100533938 Gene

poly(A) binding>gg> protein interacting>gg> protein 1 pseudog>gg>ene

LOC100533939 Gene

poly(A) binding>gg> protein interacting>gg> protein 1 pseudog>gg>ene

RNF168 Gene

ring>gg> fing>gg>er protein 168, E3 ubiquitin protein lig>gg>ase

This g>gg>ene encodes an E3 ubiquitin lig>gg>ase protein that contains a RINg>Gg> fing>gg>er, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The protein is involved in DNA double-strand break (DSB) repair. Mutations in this g>gg>ene result in Riddle syndrome. [provided by RefSeq, Sep 2011]

ZIK1P1 Gene

zinc fing>gg>er protein interacting>gg> with K protein 1 pseudog>gg>ene 1

g>Gg>3BP2 Gene

g>Gg>TPase activating>gg> protein (SH3 domain) binding>gg> protein 2

Enables molecular condensate scaffold activity. Involved in positive reg>gg>ulation of stress g>gg>ranule assembly; protein homoolig>gg>omerization; and stress g>gg>ranule assembly. Located in cytoplasmic stress g>gg>ranule and cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

Rg>Gg>S7BP Gene

reg>gg>ulator of g>Gg>-protein sig>gg>naling>gg> 7 binding>gg> protein

This g>gg>ene encodes a protein that binds to all members of the R7 subfamily of reg>gg>ulators of g>Gg> protein sig>gg>naling>gg> and reg>gg>ulates their translocation between the nucleus and the plasma membrane. The encoded protein could be reg>gg>ulated by reversible palmitoylation, which anchors it to the plasma membrane. Depalmitoylation localizes the protein to the nucleus. Polymorphisms in this g>gg>ene may be associated with risk of aspirin-exacerbated respiratory disease. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Dec 2012]

LOC101930525 Gene

BCL2/adenovirus E1B 19 kDa protein-interacting>gg> protein 3 pseudog>gg>ene

LNX1 Gene

lig>gg>and of numb-protein X 1, E3 ubiquitin protein lig>gg>ase

This g>gg>ene encodes a membrane-bound protein that is involved in sig>gg>nal transduction and protein interactions. The encoded product is an E3 ubiquitin-protein lig>gg>ase, which mediates ubiquitination and subsequent proteasomal deg>gg>radation of proteins containing>gg> phosphotyrosine binding>gg> (PTB) domains. This protein may play an important role in tumorog>gg>enesis. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been described. A pseudog>gg>ene, which is located on chromosome 17, has been identified for this g>gg>ene. [provided by RefSeq, Jul 2008]

NAB1 Gene

Ng>Gg>FI-A binding>gg> protein 1 (Eg>Gg>R1 binding>gg> protein 1)

Predicted to enable transcription coreg>gg>ulator activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to act upstream of or within endochondral ossification; nervous system development; and reg>gg>ulation of epidermis development. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NAB2 Gene

Ng>Gg>FI-A binding>gg> protein 2 (Eg>Gg>R1 binding>gg> protein 2)

This g>gg>ene encodes a member of the family of Ng>Gg>FI-A binding>gg> (NAB) proteins, which function in the nucleus to repress transcription induced by some members of the Eg>Gg>R (early g>gg>rowth response) family of transactivators. NAB proteins can homo- or hetero-multimerize with other Eg>Gg>R or NAB proteins throug>gg>h a conserved N-terminal domain, and repress transcription throug>gg>h two partially redundant C-terminal domains. Transcriptional repression by the encoded protein is mediated in part by interactions with the nucleosome remodeling>gg> and deactylase (NuRD) complex. Alternatively spliced transcript variants have been described, but their biolog>gg>ical validity has not been determined. [provided by RefSeq, Jul 2008]

LOC100289060 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), g>gg>amma 10 pseudog>gg>ene

MAPKAPK5P1 Gene

mitog>gg>en-activated protein kinase-activated protein kinase 5 pseudog>gg>ene 1

CCNB1IP1 Gene

cyclin B1 interacting>gg> protein 1, E3 ubiquitin protein lig>gg>ase

HEI10 is a member of the E3 ubiquitin lig>gg>ase family and functions in prog>gg>ression of the cell cycle throug>gg>h g>Gg>(2)/M.[supplied by OMIM, Apr 2004]

CSRP3 Gene

cysteine and g>gg>lycine-rich protein 3 (cardiac LIM protein)

This g>gg>ene encodes a member of the CSRP family of LIM domain proteins, which may be involved in reg>gg>ulatory processes important for development and cellular differentiation. The LIM/double zinc-fing>gg>er motif found in this protein is found in a g>gg>roup of proteins with critical functions in g>gg>ene reg>gg>ulation, cell g>gg>rowth, and somatic differentiation. Mutations in this g>gg>ene are thoug>gg>ht to cause heritable forms of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) in humans. Alternatively spliced transcript variants with different 5' UTR, but encoding>gg> the same protein, have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

SERPINH1 Gene

serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collag>gg>en binding>gg> protein 1)

This g>gg>ene encodes a member of the serpin superfamily of serine proteinase inhibitors. The encoded protein is localized to the endoplasmic reticulum and plays a role in collag>gg>en biosynthesis as a collag>gg>en-specific molecular chaperone. Autoantibodies to the encoded protein have been found in patients with rheumatoid arthritis. Expression of this g>gg>ene may be a marker for cancer, and nucleotide polymorphisms in this g>gg>ene may be associated with preterm birth caused by preterm premature rupture of membranes. Alternatively spliced transcript variants have been observed for this g>gg>ene, and a pseudog>gg>ene of this g>gg>ene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011]

LOC105374753 Gene

class E vacuolar protein-sorting>gg> machinery protein hse1-like

Rg>Gg>S9BP Gene

reg>gg>ulator of g>Gg> protein sig>gg>naling>gg> 9 binding>gg> protein

The protein encoded by this g>gg>ene functions as a reg>gg>ulator of g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> in phototransduction. Studies in bovine and mouse show that this g>gg>ene is expressed only in the retina, and is localized in the rod outer seg>gg>ment membranes. This protein is associated with a heterotetrameric complex, specifically interacting>gg> with the reg>gg>ulator of g>Gg>-protein sig>gg>naling>gg> 9, and appears to function as the membrane anchor for the other larg>gg>ely soluble interacting>gg> partners. Mutations in this g>gg>ene are associated with prolong>gg>ed electroretinal response suppression (PERRS), also known as bradyopsia. [provided by RefSeq, Mar 2010]

LOC100287954 Gene

double homeobox protein 4-like protein 4

LOC653503 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), g>gg>amma 10 pseudog>gg>ene

g>Gg>NAI2 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), alpha inhibiting>gg> activity polypeptide 2

The protein encoded by this g>gg>ene is an alpha subunit of g>gg>uanine nucleotide binding>gg> proteins (g>Gg> proteins). The encoded protein contains the g>gg>uanine nucleotide binding>gg> site and is involved in the hormonal reg>gg>ulation of adenylate cyclase. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Sep 2013]

g>Gg>NAI3 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), alpha inhibiting>gg> activity polypeptide 3

g>Gg>uanine nucleotide-binding>gg> proteins (g>Gg> proteins) are involved as modulators or transducers in various transmembrane sig>gg>naling>gg> pathways. g>Gg> proteins are composed of 3 units: alpha, beta and g>gg>amma. This g>gg>ene encodes an alpha subunit and belong>gg>s to the g>Gg>-alpha family. Mutation in this g>gg>ene, resulting>gg> in a g>gg>ly40-to-arg>gg> substitution, is associated with auriculocondylar syndrome, and shown to affect downstream targ>gg>ets in the g>Gg> g>protein-coupledg> endothelin g>receptorg> pathway. [provided by RefSeq, Jun 2012]

g>Gg>NAI1 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), alpha inhibiting>gg> activity polypeptide 1

g>Gg>uanine nucleotide binding>gg> proteins are heterotrimeric sig>gg>nal-transducing>gg> molecules consisting>gg> of alpha, beta, and g>gg>amma subunits. The alpha subunit binds g>gg>uanine nucleotide, can hydrolyze g>Gg>TP, and can interact with other proteins. The protein encoded by this g>gg>ene represents the alpha subunit of an inhibitory complex. The encoded protein is part of a complex that responds to beta-adrenerg>gg>ic sig>gg>nals by inhibiting>gg> adenylate cyclase. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jan 2012]

LOC100418619 Gene

poly(A) binding>gg> protein interacting>gg> protein 1 pseudog>gg>ene

MAPKAP1 Gene

mitog>gg>en-activated protein kinase associated protein 1

This g>gg>ene encodes a protein that is hig>gg>hly similar to the yeast SIN1 protein, a stress-activated protein kinase. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been described. Alternate polyadenylation sites as well as alternate 3' UTRs have been identified for transcripts of this g>gg>ene. [provided by RefSeq, Jul 2008]

RNF40 Gene

ring>gg> fing>gg>er protein 40, E3 ubiquitin protein lig>gg>ase

The protein encoded by this g>gg>ene contains a RINg>Gg> fing>gg>er, a motif known to be involved in protein-protein and protein-DNA interactions. This protein was reported to interact with the tumor suppressor protein RB1. Studies of the rat counterpart sug>gg>g>gg>ested that this protein may function as an E3 ubiquitin-protein lig>gg>ase, and facilitate the ubiquitination and deg>gg>radation of syntaxin 1, which is an essential component of the neurotransmitter release machinery. Multiple alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, May 2011]

LOC100422559 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), beta polypeptide 2-like 1 pseudog>gg>ene

LOC100287823 Gene

double homeobox protein 4-like protein 4

LOC102723438 Gene

BCL2/adenovirus E1B 19 kDa protein-interacting>gg> protein 3 pseudog>gg>ene

RNF20 Gene

ring>gg> fing>gg>er protein 20, E3 ubiquitin protein lig>gg>ase

The protein encoded by this g>gg>ene shares similarity with BRE1 of S. cerevisiae. The protein encoded by this human g>gg>ene is an E3 ubiquitin lig>gg>ase that reg>gg>ulates chromosome structure by monoubiquitinating>gg> histone H2B. This protein acts as a putative tumor suppressor and positively reg>gg>ulates the p53 tumor suppressor as well as numerous histone H2A and H2B g>gg>enes. In contrast, this protein also suppresses the expression of several protooncog>gg>enes and g>gg>rowth-related g>gg>enes, including>gg> many g>gg>enes that are induced by epidermal g>gg>rowth factor. This g>gg>ene selectively suppresses the expression of some g>gg>enes by interfering>gg> with chromatin recruitment of transcription elong>gg>ation factor SII (TFIIS). [provided by RefSeq, Feb 2012]

ZIK1 Gene

zinc fing>gg>er protein interacting>gg> with K protein 1

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100422338 Gene

g>Gg>TPase activating>gg> protein (SH3 domain) binding>gg> protein 1 pseudog>gg>ene

LOC100422337 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), alpha 13 pseudog>gg>ene

LOC100533950 Gene

mitog>gg>en-activated protein kinase 8 interacting>gg> protein 1 pseudog>gg>ene

LOC100533951 Gene

mitog>gg>en-activated protein kinase 8 interacting>gg> protein 1 pseudog>gg>ene

VCPIP1 Gene

valosin containing>gg> protein (p97)/p47 complex interacting>gg> protein 1

Enables cysteine-type deubiquitinase activity. Involved in protein deubiquitination; protein-DNA covalent cross-linking>gg> repair; and reg>gg>ulation of protein localization to chromatin. Located in cytoplasm and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100533937 Gene

poly(A) binding>gg> protein interacting>gg> protein 1 pseudog>gg>ene

LOC105374377 Gene

BCL2/adenovirus E1B 19 kDa protein-interacting>gg> protein 3 pseudog>gg>ene

g>Gg>NB1L Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), beta polypeptide 1-like

This g>gg>ene encodes a g>Gg>-protein beta-subunit-like polypeptide which is a member of the WD repeat protein family. WD repeats are minimally conserved reg>gg>ions of approximately 40 amino acids typically bracketed by g>gg>ly-his and trp-asp (g>Gg>H-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including>gg> cell cycle prog>gg>ression, sig>gg>nal transduction, apoptosis, and g>gg>ene reg>gg>ulation. This protein contains 6 WD repeats and is hig>gg>hly expressed in the heart. The g>gg>ene maps to the reg>gg>ion on chromosome 22q11, which is deleted in Dig>Gg>eorg>gg>e syndrome, trisomic in derivative 22 syndrome and tetrasomic in cat-eye syndrome. Therefore, this g>gg>ene may contribute to the etiolog>gg>y of those disorders. Transcripts from this g>gg>ene share exons with some transcripts from the C22orf29 g>gg>ene. [provided by RefSeq, Jul 2008]

LOC100418624 Gene

poly(A) binding>gg> protein interacting>gg> protein 1 pseudog>gg>ene

LOC100418625 Gene

poly(A) binding>gg> protein interacting>gg> protein 1 pseudog>gg>ene

LOC100418621 Gene

poly(A) binding>gg> protein interacting>gg> protein 1 pseudog>gg>ene

HSPA5 Gene

heat shock 70kDa protein 5 (g>gg>lucose-reg>gg>ulated protein, 78kDa)

The protein encoded by this g>gg>ene is a member of the heat shock protein 70 (HSP70) family. This protein localizes to the lumen of the endoplasmic reticulum (ER) where it operates as a typical HSP70 chaperone involved in the folding>gg> and assembly of proteins in the ER and is a master reg>gg>ulator of ER homeostasis. During>gg> cellular stress, as during>gg> viral infection or tumorog>gg>enesis, this protein interacts with the transmembrane stress sensor proteins PERK (protein kinase R-like endoplasmic reticulum kinase), IRE1 (inositol-requiring>gg> kinase 1), and ATF6 (activating>gg> transcription factor 6) where it acts as a repressor of the unfolded protein response (UPR) and also plays a role in cellular apoptosis and senescence. Elevated expression and atypical translocation of this protein to the cell surface has been reported in viral infections and some types of cancer cells. At the cell surface this protein may facilitate viral attachment and entry to host cells. This g>gg>ene is a therapeutic targ>gg>et for the treatment of coronavirus diseases and chemoresistant cancers. [provided by RefSeq, Jul 2020]

LOC100422561 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), beta polypeptide 2-like 1 pseudog>gg>ene

LOC100422562 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), beta polypeptide 2-like 1 pseudog>gg>ene

LOC400750 Gene

heat shock 70kDa protein 5 (g>gg>lucose-reg>gg>ulated protein, 78kDa) pseudog>gg>ene

LOC645139 Gene

poly(A) binding>gg> protein interacting>gg> protein 1 pseudog>gg>ene

LOC286456 Gene

Ng>Gg>FI-A binding>gg> protein 1 (Eg>Gg>R1 binding>gg> protein 1) pseudog>gg>ene

STUB1 Gene

STIP1 homolog>gg>y and U-box containing>gg> protein 1, E3 ubiquitin protein lig>gg>ase

This g>gg>ene encodes a protein containing>gg> tetratricopeptide repeat and a U-box that functions as a ubiquitin lig>gg>ase/cochaperone. The encoded protein binds to and ubiquitinates shock cog>gg>nate 71 kDa protein (Hspa8) and DNA polymerase beta (Polb), among>gg> other targ>gg>ets. Mutations in this g>gg>ene cause spinocerebellar ataxia, autosomal recessive 16. Alternative splicing>gg> results in multiple transcript variants. There is a pseudog>gg>ene for this g>gg>ene on chromosome 2. [provided by RefSeq, Jun 2014]

TYROBP Gene

TYRO protein tyrosine kinase binding>gg> protein

This g>gg>ene encodes a transmembrane sig>gg>naling>gg> polypeptide which contains an immunog>receptorg> tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded protein may associate with the killer-cell inhibitory g>receptorg> (KIR) family of membrane g>gg>lycoproteins and may act as an activating>gg> sig>gg>nal transduction element. This protein may bind zeta-chain (TCR) associated protein kinase 70kDa (ZAP-70) and spleen tyrosine kinase (SYK) and play a role in sig>gg>nal transduction, bone modeling>gg>, brain myelination, and inflammation. Mutations within this g>gg>ene have been associated with polycystic lipomembranous osteodysplasia with sclerosing>gg> leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. Its putative g>receptorg>, trig>gg>g>gg>ering>gg> g>receptorg> expressed on myeloid cells 2 (TREM2), also causes PLOSL. Multiple alternative transcript variants encoding>gg> distinct isoforms have been identified for this g>gg>ene. [provided by RefSeq, Mar 2010]

g>Gg>Ng>Gg>T2 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), g>gg>amma transducing>gg> activity polypeptide 2

Phototransduction in rod and cone photog>receptorg>s is reg>gg>ulated by g>gg>roups of sig>gg>naling>gg> proteins. The encoded protein is thoug>gg>ht to play a crucial role in cone phototransduction. It belong>gg>s to the g>Gg> protein g>gg>amma family and localized specifically in cones. Several transcript variants encoding>gg> the same protein have been found for this g>gg>ene. [provided by RefSeq, Nov 2010]

g>Gg>Ng>Gg>T1 Gene

g>gg>uanine nucleotide binding>gg> protein (g>Gg> protein), g>gg>amma transducing>gg> activity polypeptide 1

This g>gg>ene encodes the g>gg>amma subunit of transducin, a g>gg>uanine nucleotide-binding>gg> protein (g>Gg> protein) that is found in rod outer seg>gg>ments. Transducin, also known as g>Gg>MPase, mediates the activation of a cyclic g>Gg>TP-specific (g>gg>uanosine monophosphate) phosphodiesterase by rhodopsin. [provided by RefSeq, Jul 2016]

LOC102724602 Gene

COMM domain-containing>gg> protein 6-like

CHMP1B Gene

charg>gg>ed multivesicular body protein 1B

CHMP1B belong>gg>s to the chromatin-modifying>gg> protein/charg>gg>ed multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting>gg> complex required for transport III), a complex involved in deg>gg>radation of surface g>receptorg> proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and reg>gg>ulation of cell cycle prog>gg>ression (Tsang>gg> et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]

LOC643630 Gene

ribosomal protein L7a pseudog>gg>ene

NSRP1 Gene

nuclear speckle splicing>gg> reg>gg>ulatory protein 1

Enables mRNA binding>gg> activity. Involved in developmental process and reg>gg>ulation of alternative mRNA splicing>gg>, via spliceosome. Located in nuclear speck. Part of ribonucleoprotein complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC01221 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1221

RPS4XP3 Gene

ribosomal protein S4X pseudog>gg>ene 3

RPS4XP1 Gene

ribosomal protein S4X pseudog>gg>ene 1

RPS4XP6 Gene

ribosomal protein S4X pseudog>gg>ene 6

RPS4XP7 Gene

ribosomal protein S4X pseudog>gg>ene 7

RPS4XP4 Gene

ribosomal protein S4X pseudog>gg>ene 4

RPS4XP8 Gene

ribosomal protein S4X pseudog>gg>ene 8

RPS4XP9 Gene

ribosomal protein S4X pseudog>gg>ene 9

LOC101928959 Gene

probable ribosome biog>gg>enesis protein RLP24 pseudog>gg>ene

CKS1B Gene

CDC28 protein kinase reg>gg>ulatory subunit 1B

CKS1B protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biolog>gg>ical function. The CKS1B mRNA is found to be expressed in different patterns throug>gg>h the cell cycle in HeLa cells, which reflects a specialized role for the encoded protein. At least two transcript variants have been identified for this g>gg>ene, and it appears that only one of them encodes a protein. [provided by RefSeq, Sep 2008]

RPL31P13 Gene

ribosomal protein L31 pseudog>gg>ene 13

CRTAP Gene

cartilag>gg>e associated protein

The protein encoded by this g>gg>ene is similar to the chicken and mouse CRTAP g>gg>enes. The encoded protein is a scaffolding>gg> protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. Defects in this g>gg>ene are associated with osteog>gg>enesis imperfecta, a connective tissue disorder characterized by bone frag>gg>ility and low bone mass. [provided by RefSeq, Jul 2008]

HPYR1 Gene

Helicobacter pylori responsive 1 (non-protein coding>gg>)

CPEB4 Gene

cytoplasmic polyadenylation element binding>gg> protein 4

Enables RNA binding>gg> activity. Predicted to be involved in several processes, including>gg> cellular response to g>gg>lucose starvation; neg>gg>ative reg>gg>ulation of cytoplasmic translation; and response to ischemia. Located in cytoplasm and nucleus. Biomarker of liver cirrhosis; portal hypertension; and primary biliary cholang>gg>itis. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CPEB1 Gene

cytoplasmic polyadenylation element binding>gg> protein 1

This g>gg>ene encodes a member of the cytoplasmic polyadenylation element binding>gg> protein family. This hig>gg>hly conserved protein binds to a specific RNA sequence, called the cytoplasmic polyadenylation element, found in the 3' untranslated reg>gg>ion of some mRNAs. The encoded protein functions in both the cytoplasm and the nucleus. It is involved in the reg>gg>ulation of mRNA translation, as well as processing>gg> of the 3' untranslated reg>gg>ion, and may play a role in cell proliferation and tumorig>gg>enesis. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jan 2014]

CPEB3 Gene

cytoplasmic polyadenylation element binding>gg> protein 3

Enables mRNA 3'-UTR binding>gg> activity and translation factor activity, RNA binding>gg>. Involved in cellular response to amino acid stimulus and reg>gg>ulation of g>gg>ene expression. Located in several cellular components, including>gg> cytosol; midbody; and nucleoplasm. Part of CCR4-NOT complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CPEB2 Gene

cytoplasmic polyadenylation element binding>gg> protein 2

The protein encoded by this g>gg>ene is hig>gg>hly similar to cytoplasmic polyadenylation element binding>gg> protein (CPEB), an mRNA-binding>gg> protein that reg>gg>ulates cytoplasmic polyadenylation of mRNA as a trans factor in oog>gg>enesis and spermatog>gg>enesis. Studies of the similar g>gg>ene in mice sug>gg>g>gg>ested a possible role of this protein in transcriptionally inactive haploid spermatids. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been described. [provided by RefSeq, Jul 2008]

LOC105379427 Gene

zinc fing>gg>er protein 717-like

LOC649935 Gene

UPF0607 protein ENSP00000381514-like

LINC01227 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1227

LOC100131241 Gene

SERPINE1 mRNA binding>gg> protein 1 pseudog>gg>ene

PISRT1 Gene

polled intersex syndrome reg>gg>ulated transcript 1 (non-protein coding>gg> RNA)

LOC101927006 Gene

40S ribosomal protein SA-like

AAg>Gg>AB Gene

alpha- and g>gg>amma-adaptin binding>gg> protein

The protein encoded by this g>gg>ene interacts with the g>gg>amma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking>gg>. Mutations in this g>gg>ene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this g>gg>ene. [provided by RefSeq, Dec 2012]

LOC101060569 Gene

g>gg>olg>gg>in subfamily A member 6-like protein 1

LOC442041 Gene

zinc fing>gg>er protein 532 pseudog>gg>ene

RFPL4AL1 Gene

ret fing>gg>er protein-like 4A-like 1

Predicted to enable protein homodimerization activity; protein kinase binding>gg> activity; and ubiquitin protein lig>gg>ase activity. Predicted to be involved in several processes, including>gg> positive reg>gg>ulation of autophag>gg>y; positive reg>gg>ulation of canonical NF-kappaB sig>gg>nal transduction; and reg>gg>ulation of viral entry into host cell. Predicted to be active in cytosol and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100419140 Gene

ribosomal protein L5 pseudog>gg>ene

RPL12P31 Gene

ribosomal protein L12 pseudog>gg>ene 31

LOC391600 Gene

transmembrane epididymal protein 1 pseudog>gg>ene

MRPS31P4 Gene

mitochondrial ribosomal protein S31 pseudog>gg>ene 4

LOC100287243 Gene

nuclease-sensitive element-binding>gg> protein 1 pseudog>gg>ene

ZNF117 Gene

zinc fing>gg>er protein 117

This g>gg>ene encodes a protein containing>gg> multiple C2H2-type zinc fing>gg>er motifs. Readthroug>gg>h transcription occurs between this g>gg>ene and the upstream endog>gg>enous retrovirus g>gg>roup 3 member 1 (ERV3-1) locus, and may result in additional transcript variants encoding>gg> the zinc fing>gg>er protein. [provided by RefSeq, Jan 2017]

ZNF114 Gene

zinc fing>gg>er protein 114

Enables identical protein binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Located in extracellular exosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF112 Gene

zinc fing>gg>er protein 112

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PRKAR2A Gene

protein kinase, cAMP-dependent, reg>gg>ulatory, type II, alpha

cAMP is a sig>gg>naling>gg> molecule important for a variety of cellular functions. cAMP exerts its effects by activating>gg> the cAMP-dependent protein kinase, which transduces the sig>gg>nal throug>gg>h phosphorylation of different targ>gg>et proteins. The inactive kinase holoenzyme is a tetramer composed of two reg>gg>ulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of reg>gg>ulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different reg>gg>ulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this g>gg>ene is one of the reg>gg>ulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. It may interact with various A-kinase anchoring>gg> proteins and determine the subcellular localization of cAMP-dependent protein kinase. This subunit has been shown to reg>gg>ulate protein transport from endosomes to the g>Gg>olg>gg>i apparatus and further to the endoplasmic reticulum (ER). [provided by RefSeq, Jul 2008]

PRKAR2B Gene

protein kinase, cAMP-dependent, reg>gg>ulatory, type II, beta

cAMP is a sig>gg>naling>gg> molecule important for a variety of cellular functions. cAMP exerts its effects by activating>gg> the cAMP-dependent protein kinase, which transduces the sig>gg>nal throug>gg>h phosphorylation of different targ>gg>et proteins. The inactive kinase holoenzyme is a tetramer composed of two reg>gg>ulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of reg>gg>ulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different reg>gg>ulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this g>gg>ene is one of the reg>gg>ulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. This subunit has been shown to interact with and suppress the transcriptional activity of the cAMP responsive element binding>gg> protein 1 (CREB1) in activated T cells. Knockout studies in mice sug>gg>g>gg>est that this subunit may play an important role in reg>gg>ulating>gg> energ>gg>y balance and adiposity. The studies also sug>gg>g>gg>est that this subunit may mediate the g>gg>ene induction and cataleptic behavior induced by haloperidol. [provided by RefSeq, Jul 2008]

TMEM200B Gene

transmembrane protein 200B

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL12P36 Gene

ribosomal protein L12 pseudog>gg>ene 36

LOC100420186 Gene

WW domain binding>gg> protein 2 pseudog>gg>ene

KRTAP2-3 Gene

keratin associated protein 2-3

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP2-2 Gene

keratin associated protein 2-2

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP2-1 Gene

keratin associated protein 2-1

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP2-4 Gene

keratin associated protein 2-4

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal reg>gg>ions and are subdivided into three multi-g>gg>ene families according>gg> to amino acid composition: the hig>gg>h sulfur, the ultrahig>gg>h sulfur, and the hig>gg>h tyrosine/g>gg>lycine KAPs. This protein is a member of the hig>gg>h sulfur KAP family and the g>gg>ene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

RPL12P38 Gene

ribosomal protein L12 pseudog>gg>ene 38

ZNF736P3Y Gene

zinc fing>gg>er protein 736 pseudog>gg>ene 3, Y-linked

VMP1 Gene

vacuole membrane protein 1

This g>gg>ene encodes a transmembrane protein that plays a key reg>gg>ulatory role in the process of autophag>gg>y. The ectopic overexpression of the encoded protein in cultured cells trig>gg>g>gg>ers autophag>gg>y even under nutrient-rich conditions. This g>gg>ene is overexpressed in pancreatitis affected acinar cells where the encoded protein mediates sequestration and deg>gg>radation of potentially deleterious activated zymog>gg>en g>gg>ranules in a process termed, zymophag>gg>y. [provided by RefSeq, Jul 2016]

LOC100420828 Gene

nuclear pore associated protein 1 pseudog>gg>ene

RPS26P43 Gene

ribosomal protein S26 pseudog>gg>ene 43

RPS26P42 Gene

ribosomal protein S26 pseudog>gg>ene 42

RPS26P41 Gene

ribosomal protein S26 pseudog>gg>ene 41

RPS26P40 Gene

ribosomal protein S26 pseudog>gg>ene 40

RPS26P47 Gene

ribosomal protein S26 pseudog>gg>ene 47

RPS26P46 Gene

ribosomal protein S26 pseudog>gg>ene 46

RPS26P45 Gene

ribosomal protein S26 pseudog>gg>ene 45

RPS26P44 Gene

ribosomal protein S26 pseudog>gg>ene 44

RPS26P49 Gene

ribosomal protein S26 pseudog>gg>ene 49

RPS26P48 Gene

ribosomal protein S26 pseudog>gg>ene 48

FAM90A10P Gene

putative protein FAM90A10

FAM90A10 belong>gg>s to subfamily II of the primate-specific FAM90A g>gg>ene family, which orig>gg>inated from multiple duplications and rearrang>gg>ements (Bosch et al., 2007 [PubMed 17684299]). For backg>gg>round information on the FAM90A g>gg>ene family, as well as information on the evolution of FAM90A g>gg>enes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009]

LOC389842 Gene

RAN binding>gg> protein 1 pseudog>gg>ene

DLg>Gg>AP2 Gene

discs, larg>gg>e (Drosophila) homolog>gg>-associated protein 2

The product of this g>gg>ene is a membrane-associated protein that may play a role in synapse org>gg>anization and sig>gg>nalling>gg> in neuronal cells. This g>gg>ene is biallelically expressed in the brain, however, only the paternal allele is expressed in the testis (PMID:18055845). Alternatively spliced transcript variants encoding>gg> different isoforms have been identified. [provided by RefSeq, Jun 2014]

DLg>Gg>AP3 Gene

discs, larg>gg>e (Drosophila) homolog>gg>-associated protein 3

Predicted to enable PDZ domain binding>gg> activity; molecular adaptor activity; and scaffold protein binding>gg> activity. Predicted to be involved in modulation of chemical synaptic transmission and protein-containing>gg> complex assembly. Predicted to be located in plasma membrane. Predicted to be active in several cellular components, including>gg> cholinerg>gg>ic synapse; g>gg>lutamaterg>gg>ic synapse; and neuromuscular junction. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

DLg>Gg>AP1 Gene

discs, larg>gg>e (Drosophila) homolog>gg>-associated protein 1

Predicted to enable molecular adaptor activity. Predicted to be a structural constituent of postsynaptic density. Predicted to be involved in several processes, including>gg> ag>gg>g>gg>resome assembly; protein localization to synapse; and reg>gg>ulation of proteasomal protein catabolic process. Predicted to be located in plasma membrane. Predicted to be active in g>gg>lutamaterg>gg>ic synapse and postsynaptic density, intracellular component. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

DLg>Gg>AP4 Gene

discs, larg>gg>e (Drosophila) homolog>gg>-associated protein 4

The product of this g>gg>ene is a membrane-associated g>gg>uanylate kinase found at the postsynaptic density in neuronal cells. It is a sig>gg>naling>gg> molecule that can interact with potassium channels and g>receptorg>s, as well as other sig>gg>naling>gg> molecules. The protein encoded by this g>gg>ene can interact with PSD-95 throug>gg>h its g>gg>uanylate kinase domain and may be involved in clustering>gg> PSD-95 in the postsynaptic density reg>gg>ion. The encoded protein is one of at least four similar proteins that have been found. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

DLg>Gg>AP5 Gene

discs, larg>gg>e (Drosophila) homolog>gg>-associated protein 5

Predicted to enable microtubule binding>gg> activity. Predicted to be involved in several processes, including>gg> centrosome localization; kinetochore assembly; and mitotic spindle org>gg>anization. Located in cytosol; nucleus; and spindle. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FBXL14 Gene

F-box and leucine-rich repeat protein 14

Members of the F-box protein family, such as FBXL14, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin lig>gg>ases. F-box proteins interact with SKP1 throug>gg>h the F box, and they interact with ubiquitination targ>gg>ets throug>gg>h other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

OIP5 Gene

Opa interacting>gg> protein 5

The protein encoded by this g>gg>ene localizes to centromeres, where it is essential for recruitment of CENP-A throug>gg>h the mediator Holliday junction recog>gg>nition protein. Expression of this g>gg>ene is upreg>gg>ulated in several cancers, making>gg> it a putative therapeutic targ>gg>et. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Dec 2015]

FBXL19 Gene

F-box and leucine-rich repeat protein 19

This g>gg>ene encodes a member of the Skp1-Cullin-F-box family of E3 ubiquitin lig>gg>ases. The encoded protein is reported to bind to the transmembrane g>receptorg> interleukin 1 g>receptorg>-like 1 and reg>gg>ulate its ubiquitination and deg>gg>radation. This protein has been linked to the reg>gg>ulation of pulmonary inflammation and psoriasis. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Aug>gg> 2013]

RPL32P35 Gene

ribosomal protein L32 pseudog>gg>ene 35

RPL32P32 Gene

ribosomal protein L32 pseudog>gg>ene 32

RPL32P33 Gene

ribosomal protein L32 pseudog>gg>ene 33

RPL32P30 Gene

ribosomal protein L32 pseudog>gg>ene 30

TRAPPC6A Gene

trafficking>gg> protein particle complex 6A

This g>gg>ene encodes a component of the trafficking>gg> protein particle complex, which tethers transport vesicles to the cis-g>Gg>olg>gg>i membrane. Loss of expression of the related g>gg>ene in mouse affects coat and eye pig>gg>mentation, sug>gg>g>gg>esting>gg> that the encoded protein may be involved in melanosome biog>gg>enesis. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Aug>gg> 2012]

MZB1 Gene

marg>gg>inal zone B and B1 cell-specific protein

Involved in positive reg>gg>ulation of cell population proliferation. Located in cytoplasm and extracellular reg>gg>ion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRAPPC6B Gene

trafficking>gg> protein particle complex 6B

TRAPPC6B is a component of TRAPP complexes, which are tethering>gg> complexes involved in vesicle transport (Kummel et al., 2005 [PubMed 16025134]).[supplied by OMIM, Mar 2008]

HSPE1P16 Gene

heat shock 10kDa protein 1 pseudog>gg>ene 16

HSPE1P12 Gene

heat shock 10kDa protein 1 pseudog>gg>ene 12

RPL23AP29 Gene

ribosomal protein L23a pseudog>gg>ene 29

HSPE1P10 Gene

heat shock 10kDa protein 1 pseudog>gg>ene 10

RPL23AP27 Gene

ribosomal protein L23a pseudog>gg>ene 27

LOC105378958 Gene

adhesive plaque matrix protein-like

RPL23AP26 Gene

ribosomal protein L23a pseudog>gg>ene 26

LOC105378957 Gene

basic salivary proline-rich protein 2-like

LOC105378955 Gene

tripartite motif-containing>gg> protein LOC642612

LOC105378950 Gene

mitog>gg>en-activated protein kinase 7-like

LOC100419801 Gene

zinc fing>gg>er protein 532 pseudog>gg>ene

RPL23AP23 Gene

ribosomal protein L23a pseudog>gg>ene 23

LOC100419803 Gene

zinc fing>gg>er protein 510 pseudog>gg>ene

LOC100419802 Gene

zinc fing>gg>er protein 184 pseudog>gg>ene

LOC100419806 Gene

zinc fing>gg>er protein 519 pseudog>gg>ene

CAMKK2 Gene

calcium/calmodulin-dependent protein kinase kinase 2, beta

The product of this g>gg>ene belong>gg>s to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. The major isoform of this g>gg>ene plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade by phosphorylating>gg> the downstream kinases CaMK1 and CaMK4. Protein products of this g>gg>ene also phosphorylate AMP-activated protein kinase (AMPK). This g>gg>ene has its strong>gg>est expression in the brain and influences sig>gg>nalling>gg> cascades involved with learning>gg> and memory, neuronal differentiation and mig>gg>ration, neurite outg>gg>rowth, and synapse formation. Alternative splicing>gg> results in multiple transcript variants encoding>gg> distinct isoforms. The identified isoforms differ in their ability to underg>gg>o autophosphorylation and to phosphorylate downstream kinases. [provided by RefSeq, Jul 2012]

CAMKK1 Gene

calcium/calmodulin-dependent protein kinase kinase 1, alpha

The product of this g>gg>ene belong>gg>s to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This protein plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade. Three transcript variants encoding>gg> two distinct isoforms have been identified for this g>gg>ene. [provided by RefSeq, Jul 2008]

RPL23AP21 Gene

ribosomal protein L23a pseudog>gg>ene 21

PPP1R1AP2 Gene

protein phosphatase 1, reg>gg>ulatory (inhibitor) subunit 1A pseudog>gg>ene 2

LOC102724970 Gene

putative uncharacterized protein FLJ35883

LOC102724971 Gene

putative V-set and immunog>gg>lobulin domain-containing>gg>-like protein Ig>Gg>HV4OR15-8

CHMP3 Gene

charg>gg>ed multivesicular body protein 3

This g>gg>ene encodes a protein that sorts transmembrane proteins into lysosomes/vacuoles via the multivesicular body (MVB) pathway. This protein, along>gg> with other soluble coiled-coil containing>gg> proteins, forms part of the ESCRT-III protein complex that binds to the endosomal membrane and recruits additional cofactors for protein sorting>gg> into the MVB. This protein may also co-immunoprecipitate with a member of the IFg>Gg>-binding>gg> protein superfamily. Alternative splicing>gg> results in multiple transcript variants. Read-throug>gg>h transcription also exists between this g>gg>ene and the upstream ring>gg> fing>gg>er protein 103 (RNF103) g>gg>ene. [provided by RefSeq, Nov 2010]

RPL36AL Gene

ribosomal protein L36a-like

Cytoplasmic ribosomes, org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which shares sequence similarity with yeast ribosomal protein L44, belong>gg>s to the L44E (L36AE) family of ribosomal proteins. This g>gg>ene and the human g>gg>ene officially named ribosomal protein L36a (RPL36A) encode nearly identical proteins; however, they are distinct g>gg>enes. Althoug>gg>h the name of this g>gg>ene has been referred to as ribosomal protein L36a (RPL36A), its official name is ribosomal protein L36a-like (RPL36AL). As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

CHMP7 Gene

charg>gg>ed multivesicular body protein 7

Involved in several processes, including>gg> midbody abscission; mitotic nuclear division; and vacuolar transport. Located in chromatin; cytosol; and nucleus. Part of several cellular components, including>gg> bounding>gg> membrane of org>gg>anelle; kinetochore microtubule; and midbody. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CHMP5 Gene

charg>gg>ed multivesicular body protein 5

CHMP5 belong>gg>s to the chromatin-modifying>gg> protein/charg>gg>ed multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting>gg> complex required for transport III), a complex involved in deg>gg>radation of surface g>receptorg> proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and reg>gg>ulation of cell cycle prog>gg>ression (Tsang>gg> et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]

RPS4XP2 Gene

ribosomal protein S4X pseudog>gg>ene 2

KRTAP11-1 Gene

keratin associated protein 11-1

Predicted to enable structural molecule activity. Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC729468 Gene

putative Pg>Gg>M5-like protein 1

LOC101060086 Gene

cell cycle exit and neuronal differentiation protein 1-like

RPL35AP Gene

ribosomal protein L35a pseudog>gg>ene

EBP Gene

emopamil binding>gg> protein (sterol isomerase)

The protein encoded by this g>gg>ene is an integ>gg>ral membrane protein of the endoplasmic reticulum. It is a hig>gg>h affinity binding>gg> protein for the antiischemic phenylalkylamine Ca2+ antag>gg>onist [3H]emopamil and the photoaffinity label [3H]azidopamil. It is similar to sig>gg>ma g>receptorg>s and may be a member of a superfamily of hig>gg>h affinity drug>gg>-binding>gg> proteins in the endoplasmic reticulum of different tissues. This protein shares structural features with bacterial and eukaryontic drug>gg> transporting>gg> proteins. It has four putative transmembrane seg>gg>ments and contains two conserved g>gg>lutamate residues which may be involved in the transport of cationic amphiphilics. Another prominent feature of this protein is its hig>gg>h content of aromatic amino acid residues (>23%) in its transmembrane seg>gg>ments. These aromatic amino acid residues have been sug>gg>g>gg>ested to be involved in the drug>gg> transport by the P-g>gg>lycoprotein. Mutations in this g>gg>ene cause Chondrodysplasia punctata 2 (CDPX2; also known as Conradi-Hunermann syndrome). [provided by RefSeq, Jul 2008]

LINC01091 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1091

LINC01090 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1090

LINC01093 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1093

LINC01095 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1095

LINC01094 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1094

LINC01097 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1097

LINC01096 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1096

LINC01098 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1098

PTPMT1 Gene

protein tyrosine phosphatase, mitochondrial 1

Predicted to enable phosphatidylg>gg>lycerophosphatase activity and phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. Involved in reg>gg>ulation of intrinsic apoptotic sig>gg>naling>gg> pathway. Located in nucleus. Is active in mitochondrion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00320 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 320

LINC00323 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 323

LINC00324 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 324

LINC00326 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 326

LINC00327 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 327

LINC00328 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 328

RAB3g>Gg>AP2 Gene

RAB3 g>Gg>TPase activating>gg> protein subunit 2 (non-catalytic)

The protein encoded by this g>gg>ene belong>gg>s to the RAB3 protein family, members of which are involved in reg>gg>ulated exocytosis of neurotransmitters and hormones. This protein forms the Rab3 g>Gg>TPase-activating>gg> complex with RAB3g>Gg>AP1, where it constitutes the reg>gg>ulatory subunit, whereas the latter functions as the catalytic subunit. This g>gg>ene has the hig>gg>hest level of expression in the brain, consistent with it having>gg> a key role in neurodevelopment. Mutations in this g>gg>ene are associated with Martsolf syndrome.[provided by RefSeq, Oct 2009]

RAB3g>Gg>AP1 Gene

RAB3 g>Gg>TPase activating>gg> protein subunit 1 (catalytic)

This g>gg>ene encodes the catalytic subunit of a Rab g>Gg>TPase activating>gg> protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically reg>gg>ulate the activity of members of the Rab3 subfamily of small g>Gg> proteins. This protein mediates the hydrolysis of g>Gg>TP bound Rab3 to the g>Gg>DP bound form. Mutations in this g>gg>ene are associated with Warburg>gg> micro syndrome. Alternate splicing>gg> results in multiple transcript variants.[provided by RefSeq, Feb 2010]

Sg>Gg>SM3 Gene

small g>Gg> protein sig>gg>naling>gg> modulator 3

Enables g>Gg>TPase activator activity and small g>Gg>TPase binding>gg> activity. Involved in several processes, including>gg> Rap protein sig>gg>nal transduction; positive reg>gg>ulation of g>Gg>TPase activity; and reg>gg>ulation of Rab protein sig>gg>nal transduction. Located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL35P7 Gene

ribosomal protein L35 pseudog>gg>ene 7

LOC105370045 Gene

filamin-interacting>gg> protein FAM101A

g>Gg>g>Gg>A1 Gene

g>gg>olg>gg>i-associated, g>gg>amma adaptin ear containing>gg>, ARF binding>gg> protein 1

This g>gg>ene encodes a member of the g>Gg>olg>gg>i-localized, g>gg>amma adaptin ear-containing>gg>, ARF-binding>gg> (g>Gg>g>Gg>A) protein family. Members of this family are ubiquitous coat proteins that reg>gg>ulate the trafficking>gg> of proteins between the trans-g>Gg>olg>gg>i network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting>gg> of the mannose 6-phosphate g>receptorg>s at the trans-g>Gg>olg>gg>i network. They also contain a carboxy-terminal reg>gg>ion with homolog>gg>y to the ear domain of g>gg>amma-adaptins. Multiple alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

g>Gg>g>Gg>A3 Gene

g>gg>olg>gg>i-associated, g>gg>amma adaptin ear containing>gg>, ARF binding>gg> protein 3

This g>gg>ene encodes a member of the g>Gg>olg>gg>i-localized, g>gg>amma adaptin ear-containing>gg>, ARF-binding>gg> (g>Gg>g>Gg>A) family. This family includes ubiquitous coat proteins that reg>gg>ulate the trafficking>gg> of proteins between the trans-g>Gg>olg>gg>i network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting>gg> of the mannose 6-phosphate g>receptorg>s at the trans-g>Gg>olg>gg>i network. They also contain a carboxy-terminal reg>gg>ion with homolog>gg>y to the ear domain of g>gg>amma-adaptins. Multiple alternatively spliced transcript variants have been identified in this g>gg>ene. [provided by RefSeq, Feb 2010]

g>Gg>g>Gg>A2 Gene

g>gg>olg>gg>i-associated, g>gg>amma adaptin ear containing>gg>, ARF binding>gg> protein 2

This g>gg>ene encodes a member of the g>Gg>olg>gg>i-localized, g>gg>amma adaptin ear-containing>gg>, ARF-binding>gg> (g>Gg>g>Gg>A) family. This family includes ubiquitous coat proteins that reg>gg>ulate the trafficking>gg> of proteins between the trans-g>Gg>olg>gg>i network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting>gg> of the mannose 6-phosphate g>receptorg>s at the trans-g>Gg>olg>gg>i network. They also contain a carboxy-terminal reg>gg>ion with homolog>gg>y to the ear domain of g>gg>amma-adaptins. This family member may play a sig>gg>nificant role in carg>gg>o molecules reg>gg>ulation and clathrin-coated vesicle assembly. [provided by RefSeq, Jul 2008]

g>Gg>JC2 Gene

g>gg>ap junction protein, g>gg>amma 2, 47kDa

This g>gg>ene encodes a g>gg>ap junction protein. g>Gg>ap junction proteins are members of a larg>gg>e family of homolog>gg>ous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This g>gg>ene plays a key role in central myelination and is involved in peripheral myelination in humans. Defects in this g>gg>ene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1. [provided by RefSeq, Jul 2008]

g>Gg>JC3 Gene

g>gg>ap junction protein, g>gg>amma 3, 30.2kDa

This g>gg>ene encodes a g>gg>ap junction protein. The encoded protein, also known as a connexin, plays a role in formation of g>gg>ap junctions, which provide direct connections between neig>gg>hboring>gg> cells. Mutations in this g>gg>ene have been reported to be associated with nonsyndromic hearing>gg> loss.[provided by RefSeq, Feb 2010]

g>Gg>JC1 Gene

g>gg>ap junction protein, g>gg>amma 1, 45kDa

This g>gg>ene is a member of the connexin g>gg>ene family. The encoded protein is a component of g>gg>ap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weig>gg>ht materials from cell to cell. Alternatively spliced transcript variants encoding>gg> the same isoform have been described. [provided by RefSeq, Jul 2008]

LMBR1L Gene

limb development membrane protein 1-like

Enables transmembrane sig>gg>naling>gg> g>receptorg> activity. Involved in g>receptorg>-mediated endocytosis and sig>gg>nal transduction. Located in endoplasmic reticulum membrane and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ITM2BP1 Gene

integ>gg>ral membrane protein 2B pseudog>gg>ene 1

FLJ90680 Gene

FLJ90680 protein

LTN1 Gene

listerin E3 ubiquitin protein lig>gg>ase 1

Like most RINg>Gg> fing>gg>er proteins, LTN1 functions as an E3 ubiquitin lig>gg>ase (Chu et al., 2009 [PubMed 19196968]).[supplied by OMIM, Nov 2010]

VPS13D Gene

vacuolar protein sorting>gg> 13 homolog>gg> D (S. cerevisiae)

This g>gg>ene encodes a protein belong>gg>ing>gg> to the vacuolar-protein-sorting>gg>-13 g>gg>ene family. In yeast, vacuolar-protein-sorting>gg>-13 proteins are involved in trafficking>gg> of membrane proteins between the trans-g>Gg>olg>gg>i network and the prevacuolar compartment. While several transcript variants may exist for this g>gg>ene, the full-leng>gg>th natures of only two have been described to date. These two represent the major variants of this g>gg>ene and encode distinct isoforms. [provided by RefSeq, Jul 2008]

VPS13A Gene

vacuolar protein sorting>gg> 13 homolog>gg> A (S. cerevisiae)

The protein encoded by this g>gg>ene may control steps in the cycling>gg> of proteins throug>gg>h the trans-g>Gg>olg>gg>i network to endosomes, lysosomes and the plasma membrane. Mutations in this g>gg>ene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants. [provided by RefSeq, Jul 2008]

SH3KBP1 Gene

SH3-domain kinase binding>gg> protein 1

This g>gg>ene encodes an adapter protein that contains one or more N-terminal Src homolog>gg>y domains, a proline rich reg>gg>ion and a C-terminal coiled-coil domain. The encoded protein facilitates protein-protein interactions and has been implicated in numerous cellular processes including>gg> apoptosis, cytoskeletal rearrang>gg>ement, cell adhesion and in the reg>gg>ulation of clathrin-dependent endocytosis. Alternate splicing>gg> results in multiple transcript variants encoding>gg> distinct isoforms. [provided by RefSeq, Jul 2017]

VPS13C Gene

vacuolar protein sorting>gg> 13 homolog>gg> C (S. cerevisiae)

Involved in mitochondrion org>gg>anization and neg>gg>ative reg>gg>ulation of type 2 mitophag>gg>y. Located in several cellular components, including>gg> late endosome; lipid droplet; and mitochondrial outer membrane. Implicated in Parkinson's disease 23. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

VPS13B Gene

vacuolar protein sorting>gg> 13 homolog>gg> B (yeast)

This g>gg>ene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting>gg> of proteins within the cell. This protein may play a role in the development and the function of the eye, hematolog>gg>ical system, and central nervous system. Mutations in this g>gg>ene have been associated with Cohen syndrome. Multiple splice variants encoding>gg> distinct isoforms have been identified for this g>gg>ene. [provided by RefSeq, Jul 2008]

LOC101929185 Gene

putative g>gg>lycine-rich cell wall structural protein 1

TMEM160 Gene

transmembrane protein 160

Located in mitochondrial inner membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM163 Gene

transmembrane protein 163

Predicted to enable zinc ion binding>gg> activity. Involved in myelination and zinc export across plasma membrane. Predicted to be located in early endosome membrane. Predicted to be active in plasma membrane and synaptic vesicle membrane. Implicated in hypomyelinating>gg> leukodystrophy 25. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM165 Gene

transmembrane protein 165

This g>gg>ene encodes a predicted transmembrane protein with a perinuclear g>Gg>olg>gg>i-like distribution in fibroblasts. Mutations in this g>gg>ene are associated with the autosomal recessive disorder cong>gg>enital disorder of g>gg>lycosylation, type IIk. Knockdown of this g>gg>ene's expression causes decreased sialylation in HEK cells and sug>gg>g>gg>ests this g>gg>ene plays a role in terminal g>Gg>olg>gg>i g>gg>lycosylation. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2012]

TMEM164 Gene

transmembrane protein 164

Involved in positive reg>gg>ulation of ferroptosis. Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM168 Gene

transmembrane protein 168

Enables sodium channel reg>gg>ulator activity. Predicted to act upstream of or within reg>gg>ulation of ubiquitin-dependent protein catabolic process and reg>gg>ulation of voltag>gg>e-g>gg>ated sodium channel activity. Located in nuclear membrane and transport vesicle. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPLP2P2 Gene

ribosomal protein, larg>gg>e, P2 pseudog>gg>ene 2

SNAP91 Gene

synaptosomal-associated protein, 91kDa

Predicted to enable several functions, including>gg> clathrin adaptor activity; clathrin heavy chain binding>gg> activity; and phosphatidylinositol binding>gg> activity. Acts upstream of or within reg>gg>ulation of clathrin-dependent endocytosis. Predicted to be located in cytosol; postsynaptic density; and synaptic membrane. Predicted to be active in several cellular components, including>gg> Schaffer collateral - CA1 synapse; cytoplasmic vesicle; and parallel fiber to Purkinje cell synapse. Predicted to be extrinsic component of presynaptic endocytic zone membrane. Biomarker of Alzheimer's disease. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC101926982 Gene

protein g>Gg>VQW1-like

LOC101926984 Gene

putative uncharacterized protein FLJ43826

LOC101926986 Gene

g>gg>lioma tumor suppressor candidate reg>gg>ion g>gg>ene 1 protein-like

LOC105371032 Gene

polyadenylate-binding>gg> protein 4 pseudog>gg>ene

RPL15P3 Gene

ribosomal protein L15 pseudog>gg>ene 3

RPL15P2 Gene

ribosomal protein L15 pseudog>gg>ene 2

RPL15P1 Gene

ribosomal protein L15 pseudog>gg>ene 1

RPL15P7 Gene

ribosomal protein L15 pseudog>gg>ene 7

RPL15P6 Gene

ribosomal protein L15 pseudog>gg>ene 6

RPL15P5 Gene

ribosomal protein L15 pseudog>gg>ene 5

RPL15P4 Gene

ribosomal protein L15 pseudog>gg>ene 4

RPL15P9 Gene

ribosomal protein L15 pseudog>gg>ene 9

RPL15P8 Gene

ribosomal protein L15 pseudog>gg>ene 8

LINC01215 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1215

LINC01214 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1214

SYCE1 Gene

synaptonemal complex central element protein 1

This g>gg>ene encodes a member of the synaptonemal complex, which links homolog>gg>ous chromosomes during>gg> prophase I of meiosis. The tripartite structure of the complex is hig>gg>hly conserved among>gg>st metazoans. It consists of two lateral elements and a central reg>gg>ion formed by transverse elements and a central element. The protein encoded by this g>gg>ene localizes to the central element and is required for initiation and elong>gg>ation of the synapsis. Allelic variants of this g>gg>ene have been associated with premature ovarian failure and spermatog>gg>enic failure. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Nov 2016]

LINC00847 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 847

RALBP1 Gene

ralA binding>gg> protein 1

RALBP1 plays a role in g>receptorg>-mediated endocytosis and is a downstream effector of the small g>Gg>TP-binding>gg> protein RAL (see RALA; MIM 179550). Small g>Gg> proteins, such as RAL, have g>Gg>DP-bound inactive and g>Gg>TP-bound active forms, which shift from the inactive to the active state throug>gg>h the action of RALg>Gg>DS (MIM 601619), which in turn is activated by RAS (see HRAS; MIM 190020) (summary by Feig>gg>, 2003 [PubMed 12888294]).[supplied by OMIM, Nov 2010]

ZNF831 Gene

zinc fing>gg>er protein 831

Predicted to enable metal ion binding>gg> activity. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF830 Gene

zinc fing>gg>er protein 830

Predicted to enable nucleic acid binding>gg> activity and zinc ion binding>gg> activity. Predicted to be involved in several processes, including>gg> mitotic DNA integ>gg>rity checkpoint sig>gg>naling>gg>; nuclear DNA replication; and preantral ovarian follicle g>gg>rowth. Predicted to act upstream of or within several processes, including>gg> blastocyst g>gg>rowth; chromosome org>gg>anization; and intestinal epithelial structure maintenance. Predicted to be located in nucleoplasm. Predicted to be part of spliceosomal complex. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF835 Gene

zinc fing>gg>er protein 835

Predicted to enable DNA-binding>gg> transcription factor activity and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF837 Gene

zinc fing>gg>er protein 837

Enables identical protein binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF836 Gene

zinc fing>gg>er protein 836

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF839 Gene

zinc fing>gg>er protein 839

Predicted to enable metal ion binding>gg> activity. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MRPS24P1 Gene

mitochondrial ribosomal protein S24 pseudog>gg>ene 1

LINC00849 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 849

TSPY8 Gene

testis specific protein, Y-linked 8

Predicted to enable chromatin binding>gg> activity and histone binding>gg> activity. Predicted to be involved in several processes, including>gg> g>gg>onadal mesoderm development; nucleosome assembly; and spermatog>gg>enesis. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZPBP Gene

zona pellucida binding>gg> protein

ZPBP is one of several proteins that are thoug>gg>ht to participate in secondary binding>gg> between acrosome-reacted sperm and the eg>gg>g>gg>-specific extracellular matrix, the zona pellucida (McLeskey et al., 1998 [PubMed 9378618]).[supplied by OMIM, Aug>gg> 2008]

TSPY2 Gene

testis specific protein, Y-linked 2

Predicted to enable chromatin binding>gg> activity and histone binding>gg> activity. Predicted to be involved in several processes, including>gg> g>gg>onadal mesoderm development; nucleosome assembly; and spermatog>gg>enesis. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TSPY1 Gene

testis specific protein, Y-linked 1

The protein encoded by this g>gg>ene is found only in testicular tissue and may be involved in spermatog>gg>enesis. Many functional paralog>gg>s and pseudog>gg>enes of this g>gg>ene are present in a cluster in humans, but only a sing>gg>le, nonfunctional ortholog>gg>ous g>gg>ene is found in mouse. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Mar 2016]

ITCH Gene

itchy E3 ubiquitin protein lig>gg>ase

This g>gg>ene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin lig>gg>ases. HECT domain E3 ubiquitin lig>gg>ases transfer ubiquitin from E2 ubiquitin-conjug>gg>ating>gg> enzymes to protein substrates, thus targ>gg>eting>gg> specific proteins for lysosomal deg>gg>radation. The encoded protein plays a role in multiple cellular processes including>gg> erythroid and lymphoid cell differentiation and the reg>gg>ulation of immune responses. Mutations in this g>gg>ene are a cause of syndromic multisystem autoimmune disease. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Mar 2012]

CHMP4A Gene

charg>gg>ed multivesicular body protein 4A

CHMP4A belong>gg>s to the chromatin-modifying>gg> protein/charg>gg>ed multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting>gg> complex required for transport III), a complex involved in deg>gg>radation of surface g>receptorg> proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and reg>gg>ulation of cell cycle prog>gg>ression (Tsang>gg> et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]

CHMP4B Gene

charg>gg>ed multivesicular body protein 4B

This g>gg>ene encodes a member of the chromatin-modifying>gg> protein/charg>gg>ed multivesicular body protein (CHMP) protein family. The protein is part of the endosomal sorting>gg> complex required for transport (ESCRT) complex III (ESCRT-III), which functions in the sorting>gg> of endocytosed cell-surface g>receptorg>s into multivesicular endosomes. The ESCRT machinery also functions in the final abscisson stag>gg>e of cytokinesis and in the budding>gg> of enveloped viruses such as HIV-1. The three proteins of the CHMP4 subfamily interact with prog>gg>rammed cell death 6 interacting>gg> protein (PDCD6IP, also known as ALIX), which also functions in the ESCRT pathway. The CHMP4 proteins assemble into membrane-attached 5-nm filaments that form circular scaffolds and promote or stabilize outward budding>gg>. These polymers are proposed to help g>gg>enerate the luminal vesicles of multivesicular bodies. Mutations in this g>gg>ene result in autosomal dominant posterior polar cataracts.[provided by RefSeq, Oct 2009]

CHMP4C Gene

charg>gg>ed multivesicular body protein 4C

CHMP4C belong>gg>s to the chromatin-modifying>gg> protein/charg>gg>ed multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting>gg> complex required for transport III), a complex involved in deg>gg>radation of surface g>receptorg> proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and reg>gg>ulation of cell cycle prog>gg>ression (Tsang>gg> et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]

COBLL1 Gene

cordon-bleu WH2 repeat protein-like 1

Enables cadherin binding>gg> activity. Located in extracellular exosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM255B Gene

transmembrane protein 255B

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM255A Gene

transmembrane protein 255A

Predicted to act upstream of or within response to bacterium. Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

WBP2P1 Gene

WW domain binding>gg> protein 2 pseudog>gg>ene 1

ZNF304 Gene

zinc fing>gg>er protein 304

This g>gg>ene encodes a member of the Krueppel C2H2-type zinc-fing>gg>er family of proteins. The encoded protein functions as a transcriptional repressor that recruits a corepressor complex to stimulate promoter hypermethylation and transcriptional silencing>gg> of targ>gg>et g>gg>enes. Expression of this g>gg>ene is upreg>gg>ulated in colorectal, ovarian and breast cancer, and this g>gg>ene may promote cancer cell survival, g>gg>rowth and invasion. [provided by RefSeq, Jul 2016]

ZNF302 Gene

zinc fing>gg>er protein 302

This g>gg>ene encodes a member of the zinc-fing>gg>er protein family. The encoded protein contains seven C2H2-type zinc fing>gg>ers and a KRAB domain, but its function has yet to be determined. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2014]

ZNF300 Gene

zinc fing>gg>er protein 300

The protein encoded by this g>gg>ene is a C2H2-type zinc fing>gg>er DNA binding>gg> protein and likely transcriptional reg>gg>ulator. The function of this protein is not yet known. Three transcript variants encoding>gg> different isoforms have been found for this g>gg>ene.[provided by RefSeq, Mar 2010]

LOC100419755 Gene

zinc fing>gg>er protein 426 pseudog>gg>ene

PPP3CA Gene

protein phosphatase 3, catalytic subunit, alpha isozyme

Enables several functions, including>gg> ATPase binding>gg> activity; calmodulin binding>gg> activity; and calmodulin-dependent protein phosphatase activity. Involved in several processes, including>gg> calcineurin-NFAT sig>gg>naling>gg> cascade; neg>gg>ative reg>gg>ulation of ang>gg>iotensin-activated sig>gg>naling>gg> pathway; and peptidyl-serine dephosphorylation. Located in cytoplasm; cytoplasmic side of plasma membrane; and dendritic spine. Part of calcineurin complex. Implicated in developmental and epileptic encephalopathy 91. Biomarker of cholang>gg>iocarcinoma; focal seg>gg>mental g>gg>lomerulosclerosis; and schizophrenia. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PPP3CB Gene

protein phosphatase 3, catalytic subunit, beta isozyme

Enables several functions, including>gg> calmodulin binding>gg> activity; calmodulin-dependent protein phosphatase activity; and protein phosphatase 2B binding>gg> activity. Involved in several processes, including>gg> calcineurin-NFAT sig>gg>naling>gg> cascade; positive reg>gg>ulation of lysosome org>gg>anization; and positive reg>gg>ulation of protein localization to nucleus. Located in cytoplasm. Part of calcineurin complex. Implicated in aortic valve stenosis. Biomarker of focal seg>gg>mental g>gg>lomerulosclerosis and schizophrenia. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PPP3CC Gene

protein phosphatase 3, catalytic subunit, g>gg>amma isozyme

Calcineurin is a calcium-dependent, calmodulin-stimulated protein phosphatase involved in the downstream reg>gg>ulation of dopaminerg>gg>ic sig>gg>nal transduction. Calcineurin is composed of a reg>gg>ulatory subunit and a catalytic subunit. The protein encoded by this g>gg>ene represents one of the reg>gg>ulatory subunits that has been found for calcineurin. Three transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Sep 2011]

RPL12 Gene

ribosomal protein L12

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 60S subunit. The protein belong>gg>s to the L11P family of ribosomal proteins. It is located in the cytoplasm. The protein binds directly to the 26S rRNA. This g>gg>ene is co-transcribed with the U65 snoRNA, which is located in its fourth intron. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC359819 Gene

mitochondrial ribosomal protein L39 pseudog>gg>ene

g>Gg>ACAT2 Gene

g>gg>astric cancer associated transcript 2 (non-protein coding>gg>)

g>Gg>ACAT1 Gene

g>gg>astric cancer associated transcript 1 (non-protein coding>gg>)

LOC347381 Gene

hydroxyacyl-CoA dehydrog>gg>enase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit pseudog>gg>ene

RPL17P37 Gene

ribosomal protein L17 pseudog>gg>ene 37

LINC01251 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1251

LINC01250 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1250

LINC01257 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1257

TIAL1 Gene

TIA1 cytotoxic g>gg>ranule-associated RNA binding>gg> protein-like 1

The protein encoded by this g>gg>ene is a member of a family of RNA-binding>gg> proteins, has three RNA recog>gg>nition motifs (RRMs), and binds adenine and uridine-rich elements in mRNA and pre-mRNAs of a wide rang>gg>e of g>gg>enes. It reg>gg>ulates various activities including>gg> translational control, splicing>gg> and apoptosis. Alternate transcriptional splice variants, encoding>gg> different isoforms, have been characterized. The different isoforms have been show to function differently with respect to post-transcriptional silencing>gg>. [provided by RefSeq, Jul 2008]

FUBP3 Gene

far upstream element (FUSE) binding>gg> protein 3

Enables sing>gg>le-stranded DNA binding>gg> activity. Involved in DNA-templated transcription; positive reg>gg>ulation of DNA-templated transcription; and positive reg>gg>ulation of g>gg>ene expression. Acts upstream of or within positive reg>gg>ulation of transcription by RNA polymerase II. Located in cytoplasm and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FUBP1 Gene

far upstream element (FUSE) binding>gg> protein 1

The protein encoded by this g>gg>ene is a sing>gg>le stranded DNA-binding>gg> protein that binds to multiple DNA elements, including>gg> the far upstream element (FUSE) located upstream of c-myc. Binding>gg> to FUSE occurs on the non-coding>gg> strand, and is important to the reg>gg>ulation of c-myc in undifferentiated cells. This protein contains three domains, an amphipathic helix N-terminal domain, a DNA-binding>gg> central domain, and a C-terminal transactivation domain that contains three tyrosine-rich motifs. The N-terminal domain is thoug>gg>ht to repress the activity of the C-terminal domain. This protein is also thoug>gg>ht to bind RNA, and contains 3'-5' helicase activity with in vitro activity on both DNA-DNA and RNA-RNA duplexes. Aberrant expression of this g>gg>ene has been found in malig>gg>nant tissues, and this g>gg>ene is important to neural system and lung>gg> development. Binding>gg> of this protein to viral RNA is thoug>gg>ht to play a role in several viral diseases, including>gg> hepatitis C and hand, foot and mouth disease. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Dec 2014]

SCHIP1 Gene

schwannomin interacting>gg> protein 1

Enables identical protein binding>gg> activity. Predicted to be involved in positive reg>gg>ulation of hippo sig>gg>naling>gg>. Predicted to act upstream of or within several processes, including>gg> face morphog>gg>enesis; fibroblast mig>gg>ration; and luteinization. Located in several cellular components, including>gg> cell junction; cytosol; and nuclear body. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SAP30 Gene

Sin3A-associated protein, 30kDa

Histone acetylation plays a key role in the reg>gg>ulation of eukaryotic g>gg>ene expression. Histone acetylation and deacetylation are catalyzed by multisubunit complexes. The protein encoded by this g>gg>ene is a component of the histone deacetylase complex, which includes SIN3, SAP18, HDAC1, HDAC2, RbAp46, RbAp48, and other polypeptides. This complex is active in deacetylating>gg> core histone octamers, but inactive in deacetylating>gg> nucleosomal histones. A pseudog>gg>ene of this g>gg>ene is located on chromosome 3. [provided by RefSeq, Jul 2008]

LOC100533903 Gene

ribosomal protein L3 pseudog>gg>ene

LOC100533902 Gene

ribosomal protein L3 pseudog>gg>ene

LOC100533900 Gene

ribosomal protein L3 pseudog>gg>ene

RPL37P9 Gene

ribosomal protein L37 pseudog>gg>ene 9

RPL37P8 Gene

ribosomal protein L37 pseudog>gg>ene 8

BRIP1 Gene

BRCA1 interacting>gg> protein C-terminal helicase 1

The protein encoded by this g>gg>ene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This g>gg>ene may be a targ>gg>et of g>gg>ermline cancer-inducing>gg> mutations. [provided by RefSeq, Jul 2008]

PATL2 Gene

protein associated with topoisomerase II homolog>gg> 2 (yeast)

Predicted to enable RNA binding>gg> activity. Predicted to be involved in P-body assembly; deadenylation-dependent decapping>gg> of nuclear-transcribed mRNA; and neg>gg>ative reg>gg>ulation of translation. Predicted to act upstream of or within neg>gg>ative reg>gg>ulation of cytoplasmic mRNA processing>gg> body assembly. Located in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM167AP1 Gene

transmembrane protein 167A pseudog>gg>ene 1

FKBP14 Gene

FK506 binding>gg> protein 14, 22 kDa

The protein encoded by this g>gg>ene is a member of the FK506-binding>gg> protein family of peptidyl-prolyl cis-trans isomerases. The encoded protein is found in the lumen of the endoplasmic reticulum, where it is thoug>gg>ht to accelerate protein folding>gg>. Defects in this g>gg>ene are a cause of a type of Ehlers-Danlos syndrome (EDS). Both a protein-coding>gg> variant and noncoding>gg> variants are transcribed from this g>gg>ene. [provided by RefSeq, Mar 2012]

FKBP15 Gene

FK506 binding>gg> protein 15, 133kDa

Predicted to enable actin binding>gg> activity and peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in endocytosis. Located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FKBP10 Gene

FK506 binding>gg> protein 10, 65 kDa

The protein encoded by this g>gg>ene belong>gg>s to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. This protein localizes to the endoplasmic reticulum and acts as a molecular chaperone. Alternatively spliced variants encoding>gg> different isoforms have been reported, but their biolog>gg>ical validity has not been determined.[provided by RefSeq, Nov 2009]

FKBP11 Gene

FK506 binding>gg> protein 11, 19 kDa

FKBP11 belong>gg>s to the FKBP family of peptidyl-prolyl cis/trans isomerases, which catalyze the folding>gg> of proline-containing>gg> polypeptides. The peptidyl-prolyl isomerase activity of FKBP proteins is inhibited by the immunosuppressant compounds FK506 and rapamycin (Rulten et al., 2006 [PubMed 16596453]).[supplied by OMIM, Mar 2008]

FBXO10 Gene

F-box protein 10

Members of the F-box protein family, such as FBXO10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin lig>gg>ases. F-box proteins interact with SKP1 throug>gg>h the F box, and they interact with ubiquitination targ>gg>ets throug>gg>h other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXO11 Gene

F-box protein 11

This g>gg>ene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein lig>gg>ase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing>gg> WD-40 domains, Fbls containing>gg> leucine-rich repeats, and Fbxs containing>gg> either different protein-protein interaction modules or no recog>gg>nizable motifs. The protein encoded by this g>gg>ene belong>gg>s to the Fbxs class. It can function as an arg>gg>inine methyltransferase that symmetrically dimethylates arg>gg>inine residues, and it acts as an adaptor protein to mediate the neddylation of p53, which leads to the suppression of p53 function. This g>gg>ene is known to be down-reg>gg>ulated in melanocytes from patients with vitilig>gg>o, a skin disorder that results in depig>gg>mentation. Polymorphisms in this g>gg>ene are associated with chronic otitis media with effusion and recurrent otitis media (COME/ROM), a hearing>gg> loss disorder, and the knockout of the homolog>gg>ous mouse g>gg>ene results in the deaf mouse mutant Jeff (Jf), a sing>gg>le g>gg>ene model of otitis media. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been identified for this g>gg>ene. [provided by RefSeq, Jun 2010]

FBXO16 Gene

F-box protein 16

This g>gg>ene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein lig>gg>ase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing>gg> WD-40 domains, Fbls containing>gg> leucine-rich repeats, and Fbxs containing>gg> either different protein-protein interaction modules or no recog>gg>nizable motifs. The protein encoded by this g>gg>ene belong>gg>s to the Fbx class. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Apr 2012]

FBXO17 Gene

F-box protein 17

This g>gg>ene encodes a member of the F-box protein family which is characterized by the F-box motif. The F-box proteins constitute one of the four subunits of the ubiquitin protein lig>gg>ase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing>gg> WD-40 domains, Fbls containing>gg> leucine-rich repeats, and Fbxs containing>gg> either different protein-protein interaction modules or no recog>gg>nizable motifs. The protein encoded by this g>gg>ene belong>gg>s to the Fbxs class and it contains an F-box domain. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2013]

FBXO15 Gene

F-box protein 15

Members of the F-box protein family, such as FBXO15, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin lig>gg>ases. F-box proteins interact with SKP1 throug>gg>h the F box, and they interact with ubiquitination targ>gg>ets throug>gg>h other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

KRTAP1-1 Gene

keratin associated protein 1-1

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal reg>gg>ions and are subdivided into three multi-g>gg>ene families according>gg> to amino acid composition: the hig>gg>h sulfur, the ultrahig>gg>h sulfur, and the hig>gg>h tyrosine/g>gg>lycine KAPs. This protein is a member of the hig>gg>h sulfur KAP family and the g>gg>ene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

KRTAP1-3 Gene

keratin associated protein 1-3

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal reg>gg>ions and are subdivided into three multi-g>gg>ene families according>gg> to amino acid composition: the hig>gg>h sulfur, the ultrahig>gg>h sulfur, and the hig>gg>h tyrosine/g>gg>lycine KAPs. This protein is a member of the hig>gg>h sulfur KAP family and the g>gg>ene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

KRTAP1-4 Gene

keratin associated protein 1-4

The main structural proteins of mammalian hair fiber are the hair keratins (see MIM 601077) and the keratin-associated proteins (KAPs), which form a rig>gg>id and resistant hair shaft throug>gg>h extensive disulfide bond crosslinking>gg> with the abundant cysteines of hair keratins (Shimomura et al., 2002 [PubMed 12228244]).[supplied by OMIM, Jan 2009]

KRTAP1-5 Gene

keratin associated protein 1-5

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal reg>gg>ions and are subdivided into three multi-g>gg>ene families according>gg> to amino acid composition: the hig>gg>h sulfur, the ultrahig>gg>h sulfur, and the hig>gg>h tyrosine/g>gg>lycine KAPs. This protein is a member of the hig>gg>h sulfur KAP family and the g>gg>ene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

LOC100313942 Gene

transmembrane protein 92 pseudog>gg>ene

LOC440181 Gene

transmembrane protein 98 pseudog>gg>ene

g>Gg>HITM Gene

g>gg>rowth hormone inducible transmembrane protein

Enables calcium:proton antiporter activity. Involved in calcium export from the mitochondrion; inner mitochondrial membrane org>gg>anization; and neg>gg>ative reg>gg>ulation of release of cytochrome c from mitochondria. Located in endoplasmic reticulum membrane and mitochondrial inner membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL7P57 Gene

ribosomal protein L7 pseudog>gg>ene 57

LOC127011 Gene

ATPase, H+ transporting>gg>, lysosomal accessory protein 2 pseudog>gg>ene

FKBP1B Gene

FK506 binding>gg> protein 1B, 12.6 kDa

The protein encoded by this g>gg>ene is a member of the immunophilin protein family, which play a role in immunoreg>gg>ulation and basic cellular processes involving>gg> protein folding>gg> and trafficking>gg>. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It is hig>gg>hly similar to the FK506-binding>gg> protein 1A. Its physiolog>gg>ical role is thoug>gg>ht to be in excitation-contraction coupling>gg> in cardiac muscle. There are two alternatively spliced transcript variants of this g>gg>ene encoding>gg> different isoforms. [provided by RefSeq, Jul 2008]

FKBP1C Gene

FK506 binding>gg> protein 1C

Predicted to enable peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in neg>gg>ative reg>gg>ulation of activin g>receptorg> sig>gg>naling>gg> pathway and neg>gg>ative reg>gg>ulation of transforming>gg> g>gg>rowth factor beta g>receptorg> sig>gg>naling>gg> pathway. Predicted to be active in sarcoplasmic reticulum membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FKBP1A Gene

FK506 binding>gg> protein 1A, 12kDa

The protein encoded by this g>gg>ene is a member of the immunophilin protein family, which play a role in immunoreg>gg>ulation and basic cellular processes involving>gg> protein folding>gg> and trafficking>gg>. The protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It interacts with several intracellular sig>gg>nal transduction proteins including>gg> type I Tg>Gg>F-beta g>receptorg>. It also interacts with multiple intracellular calcium release channels, and coordinates multi-protein complex formation of the tetrameric skeletal muscle ryanodine g>receptorg>. In mouse, deletion of this homolog>gg>ous g>gg>ene causes cong>gg>enital heart disorder known as noncompaction of left ventricular myocardium. Multiple alternatively spliced variants, encoding>gg> the same protein, have been identified. The human g>gg>enome contains five pseudog>gg>enes related to this g>gg>ene, at least one of which is transcribed. [provided by RefSeq, Sep 2008]

RPL17P6 Gene

ribosomal protein L17 pseudog>gg>ene 6

MAP10 Gene

microtubule-associated protein 10

Enables microtubule binding>gg> activity. Involved in microtubule cytoskeleton org>gg>anization; positive reg>gg>ulation of cytokinesis; and reg>gg>ulation of microtubule-based process. Located in microtubule cytoskeleton and midbody. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL17P9 Gene

ribosomal protein L17 pseudog>gg>ene 9

RPL17P8 Gene

ribosomal protein L17 pseudog>gg>ene 8

MAP1A Gene

microtubule-associated protein 1A

This g>gg>ene encodes a protein that belong>gg>s to the microtubule-associated protein family. The proteins of this family are thoug>gg>ht to be involved in microtubule assembly, which is an essential step in neurog>gg>enesis. The product of this g>gg>ene is a precursor polypeptide that presumably underg>gg>oes proteolytic processing>gg> to g>gg>enerate the final MAP1A heavy chain and LC2 lig>gg>ht chain. Expression of this g>gg>ene is almost exclusively in the brain. Studies of the rat microtubule-associated protein 1A g>gg>ene sug>gg>g>gg>ested a role in early events of spinal cord development. [provided by RefSeq, Jul 2008]

MAP1B Gene

microtubule-associated protein 1B

This g>gg>ene encodes a protein that belong>gg>s to the microtubule-associated protein family. The proteins of this family are thoug>gg>ht to be involved in microtubule assembly, which is an essential step in neurog>gg>enesis. The product of this g>gg>ene is a precursor polypeptide that presumably underg>gg>oes proteolytic processing>gg> to g>gg>enerate the final MAP1B heavy chain and LC1 lig>gg>ht chain. g>Gg>ene knockout studies of the mouse microtubule-associated protein 1B g>gg>ene sug>gg>g>gg>ested an important role in development and function of the nervous system. [provided by RefSeq, Jul 2008]

MAP1S Gene

microtubule-associated protein 1S

Enables DNA binding>gg> activity and cytoskeletal protein binding>gg> activity. Involved in metaphase chromosome alig>gg>nment; microtubule cytoskeleton org>gg>anization; and neuron projection morphog>gg>enesis. Located in several cellular components, including>gg> microtubule cytoskeleton; nuclear lumen; and perinuclear reg>gg>ion of cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CCP110 Gene

centriolar coiled coil protein 110kDa

Involved in centriole replication; neg>gg>ative reg>gg>ulation of cilium assembly; and reg>gg>ulation of cytokinesis. Located in centriole and centrosome. Part of protein-containing>gg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL18A Gene

ribosomal protein L18a

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a member of the L18AE family of ribosomal proteins that is a component of the 60S subunit. The encoded protein may play a role in viral replication by interacting>gg> with the hepatitis C virus internal ribosome entry site (IRES). This g>gg>ene is co-transcribed with the U68 snoRNA, located within the third intron. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>hout the g>gg>enome. [provided by RefSeq, Jul 2012]

FOXCUT Gene

FOXC1 upstream transcript (non-protein coding>gg>)

TARDBPP1 Gene

TAR DNA binding>gg> protein pseudog>gg>ene 1

TARDBPP2 Gene

TAR DNA binding>gg> protein pseudog>gg>ene 2

EPB41L1 Gene

erythrocyte membrane protein band 4.1-like 1

Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying>gg> plasma membrane. The encoded protein binds and stabilizes D2 and D3 dopamine g>receptorg>s at the neuronal plasma membrane. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jan 2015]

EPB41L3 Gene

erythrocyte membrane protein band 4.1-like 3

Predicted to enable cytoskeletal protein-membrane anchor activity. Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in several processes, including>gg> nervous system development; paranodal junction maintenance; and protein localization to axon. Located in cell-cell junction and plasma membrane. Implicated in esophag>gg>us squamous cell carcinoma. Biomarker of mening>gg>ioma. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

EPB41L2 Gene

erythrocyte membrane protein band 4.1-like 2

Predicted to enable PH domain binding>gg> activity; cytoskeletal protein binding>gg> activity; and structural molecule activity. Involved in positive reg>gg>ulation of protein localization to cell cortex. Located in several cellular components, including>gg> cell cortex; cell junction; and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

EPB41L5 Gene

erythrocyte membrane protein band 4.1 like 5

Predicted to enable cytoskeletal protein binding>gg> activity and protein domain specific binding>gg> activity. Predicted to be involved in actomyosin structure org>gg>anization. Predicted to act upstream of or within several processes, including>gg> chordate embryonic development; embryonic foreg>gg>ut morphog>gg>enesis; and mesoderm morphog>gg>enesis. Located in cytosol; nucleoplasm; and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF848P Gene

zinc fing>gg>er protein 848, pseudog>gg>ene

RBMY2JP Gene

RNA binding>gg> motif protein, Y-linked, family 2, member J pseudog>gg>ene

RNF175 Gene

ring>gg> fing>gg>er protein 175

Predicted to enable ubiquitin protein lig>gg>ase activity. Predicted to be involved in ERAD pathway. Predicted to be located in membrane. Predicted to be active in g>Gg>olg>gg>i membrane and endoplasmic reticulum membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RNF170 Gene

ring>gg> fing>gg>er protein 170

This g>gg>ene encodes a RINg>Gg> domain-containing>gg> protein that resides in the endoplasmic reticulum (ER) membrane. This protein functions as an E3 ubiquitin lig>gg>ase and mediates ubiquitination and processing>gg> of inositol 1,4,5-trisphosphate (IP3) g>receptorg>s via the ER-associated protein deg>gg>radation pathway. It is recruited to the activated IP3 g>receptorg>s by the ERLIN1/ERLIN2 complex to which it is constitutively bound. Mutations in this g>gg>ene are associated with autosomal dominant sensory ataxia. Alternatively spliced transcript variants have been found for this g>gg>ene. [provided by RefSeq, Jun 2012]

g>Gg>AFA2 Gene

Fg>Gg>F-2 activity-associated protein 2

g>Gg>AFA3 Gene

Fg>Gg>F-2 activity-associated protein 3

PCNP Gene

PEST proteolytic sig>gg>nal containing>gg> nuclear protein

Involved in proteasome-mediated ubiquitin-dependent protein catabolic process and protein ubiquitination. Located in nuclear body. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PCAT1 Gene

prostate cancer associated transcript 1 (non-protein coding>gg>)

This g>gg>ene produces a long>gg> non-coding>gg> RNA that promotes cell proliferation and is upreg>gg>ulated in prostate, colorectal, and other cancers. This RNA neg>gg>atively reg>gg>ulates the BRCA2 tumor suppressor protein and positively reg>gg>ulates Myc oncoprotein. It contains binding>gg> sites for microRNAs, and may act as a spong>gg>e for microRNAs that reg>gg>ulate cell g>gg>rowth pathways. [provided by RefSeq, Dec 2017]

PCAT2 Gene

prostate cancer associated transcript 2 (non-protein coding>gg>)

PCAT4 Gene

prostate cancer associated transcript 4 (non-protein coding>gg>)

PCAT7 Gene

prostate cancer associated transcript 7 (non-protein coding>gg>)

LOC101059914 Gene

protein FAM218A-like

PPT1 Gene

palmitoyl-protein thioesterase 1

The protein encoded by this g>gg>ene is a small g>gg>lycoprotein involved in the catabolism of lipid-modified proteins during>gg> lysosomal deg>gg>radation. The encoded enzyme removes thioester-linked fatty acyl g>gg>roups such as palmitate from cysteine residues. Defects in this g>gg>ene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene.[provided by RefSeq, Dec 2008]

FLJ44674 Gene

FLJ44674 protein

MRPL3P1 Gene

mitochondrial ribosomal protein L3 pseudog>gg>ene 1

Mg>Gg>C40069 Gene

uncharacterized protein Mg>Gg>C40069

TRNP1 Gene

TMF1-reg>gg>ulated nuclear protein 1

Predicted to enable DNA binding>gg> activity. Predicted to be involved in several processes, including>gg> cerebellar cortex morphog>gg>enesis; neural precursor cell proliferation; and reg>gg>ulation of cell population proliferation. Predicted to be located in euchromatin. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

YBX3P1 Gene

Y box binding>gg> protein 3 pseudog>gg>ene 1

PPP1R26 Gene

protein phosphatase 1, reg>gg>ulatory subunit 26

Predicted to enable protein phosphatase inhibitor activity. Predicted to be located in nucleolus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PPP1R27 Gene

protein phosphatase 1, reg>gg>ulatory subunit 27

Enables phosphatase binding>gg> activity. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PPP1R21 Gene

protein phosphatase 1, reg>gg>ulatory subunit 21

Enables RNA binding>gg> activity. Located in early endosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF605 Gene

zinc fing>gg>er protein 605

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KCP Gene

kielin/chordin-like protein

Predicted to be involved in positive reg>gg>ulation of BMP sig>gg>naling>gg> pathway. Predicted to act upstream of or within hematopoietic prog>gg>enitor cell differentiation. Predicted to be located in extracellular space. Predicted to be active in extracellular reg>gg>ion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC606724 Gene

coronin, actin binding>gg> protein, 1A pseudog>gg>ene

LINC01255 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1255

LOC148430 Gene

ribosomal protein S2 pseudog>gg>ene

LOC729603 Gene

calcineurin-like EF-hand protein 1 pseudog>gg>ene

This locus on chromosome 6q25.3 represents a sing>gg>le-exon transcribed pseudog>gg>ene of the multi-exon calcium binding>gg> protein P22 g>gg>ene which resides on chromosome 15q13.3. This pseudog>gg>ene is situated within an intron reg>gg>ion of the insulin-like g>gg>rowth factor 2 g>receptorg> g>gg>ene (Ig>Gg>F2R). [provided by RefSeq, Jan 2009]

OPALIN Gene

olig>gg>odendrocytic myelin paranodal and inner loop protein

Predicted to be involved in reg>gg>ulation of olig>gg>odendrocyte differentiation. Located in g>Gg>olg>gg>i apparatus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NDEL1 Gene

nudE neurodevelopment protein 1-like 1

Enables identical protein binding>gg> activity. Involved in chromosome seg>gg>reg>gg>ation; positive reg>gg>ulation of g>Gg>TPase activity; and reg>gg>ulation of intracellular protein transport. Located in kinetochore. Biomarker of schizophrenia. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100130209 Gene

charg>gg>ed multivesicular body protein 4A pseudog>gg>ene

SP140L Gene

SP140 nuclear body protein-like

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PLTP Gene

phospholipid transfer protein

The protein encoded by this g>gg>ene is one of at least two lipid transfer proteins found in human plasma. The encoded protein transfers phospholipids from trig>gg>lyceride-rich lipoproteins to hig>gg>h density lipoprotein (HDL). In addition to reg>gg>ulating>gg> the size of HDL particles, this protein may be involved in cholesterol metabolism. At least two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

FKBP9P1 Gene

FK506 binding>gg> protein 9 pseudog>gg>ene 1

Predicted to enable calcium ion binding>gg> activity and peptidyl-prolyl cis-trans isomerase activity. Predicted to be located in endoplasmic reticulum. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SETBP1 Gene

SET binding>gg> protein 1

This g>gg>ene encodes a protein which contains a several motifs including>gg> a ski homolog>gg>y reg>gg>ion and a SET-binding>gg> reg>gg>ion in addition to three nuclear localization sig>gg>nals. The encoded protein has been shown to bind the SET nuclear oncog>gg>ene which is involved in DNA replication. Mutations in this g>gg>ene are associated with Schinzel-g>Gg>iedion midface retraction syndrome. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Aug>gg> 2011]

LOC100421257 Gene

lysosomal-associated membrane protein 1 pseudog>gg>ene

RPL7P26 Gene

ribosomal protein L7 pseudog>gg>ene 26

LOC105369260 Gene

double homeobox protein 4-like

LOC100421250 Gene

epithelial splicing>gg> reg>gg>ulatory protein 1 pseudog>gg>ene

LOC105372260 Gene

protein capicua homolog>gg>

PAXIP1 Gene

PAX interacting>gg> (with transcription-activation domain) protein 1

This g>gg>ene is a member of the paired box (PAX) g>gg>ene family and encodes a nuclear protein with six BRCT (breast cancer carboxy-terminal) domains. This protein plays a critical role in maintaining>gg> g>gg>enome stability, condensation of chromatin and prog>gg>ression throug>gg>h mitosis. [provided by RefSeq, Jul 2008]

VPRBP Gene

Vpr (HIV-1) binding>gg> protein

Enables histone H2AT120 kinase activity; nuclear estrog>gg>en g>receptorg> binding>gg> activity; and ubiquitin-like lig>gg>ase-substrate adaptor activity. Involved in several processes, including>gg> cell competition in a multicellular org>gg>anism; proteasome-mediated ubiquitin-dependent protein catabolic process; and reg>gg>ulation of primary metabolic process. Located in COP9 sig>gg>nalosome; fibrillar center; and nucleoplasm. Part of Cul4-RINg>Gg> E3 ubiquitin lig>gg>ase complex. Is active in centrosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL13AP7 Gene

ribosomal protein L13a pseudog>gg>ene 7

RPL13AP6 Gene

ribosomal protein L13a pseudog>gg>ene 6

RPL13AP5 Gene

ribosomal protein L13a pseudog>gg>ene 5

RPL13AP3 Gene

ribosomal protein L13a pseudog>gg>ene 3

Predicted to be a structural constituent of ribosome. Predicted to be involved in translation. Located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL13AP2 Gene

ribosomal protein L13a pseudog>gg>ene 2

RPL13AP9 Gene

ribosomal protein L13a pseudog>gg>ene 9

RPL13AP8 Gene

ribosomal protein L13a pseudog>gg>ene 8

LINC01491 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1491

LINC01490 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1490

LINC01198 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1198

Biomarker of malig>gg>nant astrocytoma. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC01194 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1194

LINC01195 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1195

LINC01197 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1197

LINC01191 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1191

LINC01192 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1192

LINC01193 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1193

MRPL42P5 Gene

mitochondrial ribosomal protein L42 pseudog>gg>ene 5

MRPL42P4 Gene

mitochondrial ribosomal protein L42 pseudog>gg>ene 4

MRPL42P1 Gene

mitochondrial ribosomal protein L42 pseudog>gg>ene 1

VPS28 Gene

vacuolar protein sorting>gg> 28 homolog>gg> (S. cerevisiae)

This g>gg>ene encodes a protein subunit of the ESCRT-I complex (endosomal complexes required for transport), which functions in the transport and sorting>gg> of proteins into subcellular vesicles. This complex can also be hijacked to facilitate the budding>gg> of enveloped viruses from the cell membrane. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Jul 2013]

PPP1R13B Gene

protein phosphatase 1, reg>gg>ulatory subunit 13B

This g>gg>ene encodes a member of the ASPP (apoptosis-stimulating>gg> protein of p53) family of p53 interacting>gg> proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. ASPP proteins are required for the induction of apoptosis by p53-family proteins. They promote DNA binding>gg> and transactivation of p53-family proteins on the promoters of proapoptotic g>gg>enes. Expression of this g>gg>ene is reg>gg>ulated by the E2F transcription factor. [provided by RefSeq, Jul 2008]

PPP1R13L Gene

protein phosphatase 1, reg>gg>ulatory subunit 13 like

IASPP is one of the most evolutionarily conserved inhibitors of p53 (TP53; MIM 191170), whereas ASPP1 (MIM 606455) and ASPP2 (MIM 602143) are activators of p53.[supplied by OMIM, Mar 2008]

RPL15P22 Gene

ribosomal protein L15 pseudog>gg>ene 22

RPL15P20 Gene

ribosomal protein L15 pseudog>gg>ene 20

RPL15P21 Gene

ribosomal protein L15 pseudog>gg>ene 21

HSP90B3P Gene

heat shock protein 90kDa beta (g>Gg>rp94), member 3, pseudog>gg>ene

LOC642490 Gene

S-phase kinase-associated protein 1 pseudog>gg>ene

RPL36AP35 Gene

ribosomal protein L36a pseudog>gg>ene 35

RPL36AP32 Gene

ribosomal protein L36a pseudog>gg>ene 32

RPL36AP33 Gene

ribosomal protein L36a pseudog>gg>ene 33

RPL36AP31 Gene

ribosomal protein L36a pseudog>gg>ene 31

RPL36AP38 Gene

ribosomal protein L36a pseudog>gg>ene 38

RPL36AP39 Gene

ribosomal protein L36a pseudog>gg>ene 39

LOC100190922 Gene

eukaryotic translation initiation factor 4E binding>gg> protein 2 pseudog>gg>ene

MRPS35P2 Gene

mitochondrial ribosomal protein S35 pseudog>gg>ene 2

MRPS35P3 Gene

mitochondrial ribosomal protein S35 pseudog>gg>ene 3

MRPS35P1 Gene

mitochondrial ribosomal protein S35 pseudog>gg>ene 1

Mg>Gg>A Gene

Mg>Gg>A, MAX dimerization protein

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in cell fate specification and positive reg>gg>ulation of transcription by RNA polymerase II. Predicted to act upstream of or within cellular response to leukemia inhibitory factor. Part of MLL1 complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

Mg>Gg>P Gene

matrix g>Gg>la protein

This g>gg>ene encodes a member of the osteocalcin/matrix g>Gg>la family of proteins. The encoded vitamin K-dependent protein is secreted by chondrocytes and vascular smooth muscle cells, and functions as a physiolog>gg>ical inhibitor of ectopic tissue calcification. Carboxylation status of the encoded protein is associated with calcification of the vasculature in human patients with cardiovascular disease and calcification of the synovial membranes in osteoarthritis patients. Mutations in this g>gg>ene cause Keutel syndrome in human patients, which is characterized by abnormal cartilag>gg>e calcification, peripheral pulmonary stenosis and facial hypoplasia. [provided by RefSeq, Sep 2016]

g>Gg>JB6 Gene

g>gg>ap junction protein, beta 6, 30kDa

g>Gg>ap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in g>gg>roups. Each connexin protein has four transmembrane seg>gg>ments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane seg>gg>ments, and the N- and C-terminus both being>gg> in the cytoplasm. The specificity of the g>gg>ap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weig>gg>ht, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the g>gg>ap junction is present. This g>gg>ene encodes one of the connexin proteins. Mutations in this g>gg>ene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]

LINC01360 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1360

LOC100507022 Gene

FLJ00291 protein

KRTAP26-1 Gene

keratin associated protein 26-1

Predicted to enable structural molecule activity. Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZW10 Gene

zw10 kinetochore protein

This g>gg>ene encodes a protein that is one of many involved in mechanisms to ensure proper chromosome seg>gg>reg>gg>ation during>gg> cell division. This protein is an essential component of the mitotic checkpoint, which prevents cells from prematurely exiting>gg> mitosis. [provided by RefSeq, Aug>gg> 2011]

LOC105371478 Gene

breakpoint cluster reg>gg>ion protein-like

RPS15AP8 Gene

ribosomal protein S15a pseudog>gg>ene 8

RPS15AP9 Gene

ribosomal protein S15a pseudog>gg>ene 9

ARHg>Gg>AP44 Gene

Rho g>Gg>TPase activating>gg> protein 44

Enables phospholipid binding>gg> activity. Predicted to be involved in several processes, including>gg> modification of dendritic spine; neg>gg>ative reg>gg>ulation of Rac protein sig>gg>nal transduction; and reg>gg>ulation of plasma membrane bounded cell projection org>gg>anization. Located in leading>gg> edg>gg>e membrane. Implicated in acquired immunodeficiency syndrome and skin melanoma. Biomarker of hepatocellular carcinoma and lung>gg> carcinoma. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF733P Gene

zinc fing>gg>er protein 733, pseudog>gg>ene

ARHg>Gg>AP40 Gene

Rho g>Gg>TPase activating>gg> protein 40

Predicted to enable g>Gg>TPase activator activity. Predicted to be involved in reg>gg>ulation of actin filament polymerization and reg>gg>ulation of small g>Gg>TPase mediated sig>gg>nal transduction. Predicted to be located in cytosol. Predicted to be active in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100420832 Gene

cysteine and g>gg>lycine-rich protein 2 pseudog>gg>ene

RPS21P7 Gene

ribosomal protein S21 pseudog>gg>ene 7

CDC42EP3 Gene

CDC42 effector protein (Rho g>Gg>TPase binding>gg>) 3

This g>gg>ene encodes a member of a small family of g>gg>uanosine triphosphate (g>Gg>TP) metabolizing>gg> proteins that contain a CRIB (Cdc42, Rac interactive binding>gg>) domain. Members of this family of proteins act as effectors of CDC42 function. The encoded protein is involved in actin cytoskeleton re-org>gg>anization during>gg> cell shape chang>gg>es, including>gg> pseudopodia formation. A pseudog>gg>ene of this g>gg>ene is found on chromosome 19. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2012]

CDC42EP2 Gene

CDC42 effector protein (Rho g>Gg>TPase binding>gg>) 2

CDC42, a small Rho g>Gg>TPase, reg>gg>ulates the formation of F-actin-containing>gg> structures throug>gg>h its interaction with the downstream effector proteins. The protein encoded by this g>gg>ene is a member of the Borg>gg> family of CDC42 effector proteins. Borg>gg> family proteins contain a CRIB (Cdc42/Rac interactive-binding>gg>) domain. They bind to, and neg>gg>atively reg>gg>ulate the function of CDC42. Coexpression of this protein with CDC42 sug>gg>g>gg>ested a role of this protein in actin filament assembly and cell shape control. [provided by RefSeq, Aug>gg> 2011]

CDC42EP1 Gene

CDC42 effector protein (Rho g>Gg>TPase binding>gg>) 1

CDC42 is a member of the Rho g>Gg>TPase family that reg>gg>ulates multiple cellular activities, including>gg> actin polymerization. The protein encoded by this g>gg>ene is a CDC42 binding>gg> protein that mediates actin cytoskeleton reorg>gg>anization at the plasma membrane. This protein is secreted and is primarily found in bone marrow. [provided by RefSeq, Jul 2008]

CDC42EP5 Gene

CDC42 effector protein (Rho g>Gg>TPase binding>gg>) 5

Cell division control protein 42 (CDC42), a small Rho g>Gg>TPase, reg>gg>ulates the formation of F-actin-containing>gg> structures throug>gg>h its interaction with the downstream effector proteins. The protein encoded by this g>gg>ene is a member of the Borg>gg> (binder of Rho g>Gg>TPases) family of CDC42 effector proteins. Borg>gg> family proteins contain a CRIB (Cdc42/Rac interactive-binding>gg>) domain. They bind to CDC42 and reg>gg>ulate its function neg>gg>atively. The encoded protein may inhibit c-Jun N-terminal kinase (JNK) independently of CDC42 binding>gg>. The protein may also play a role in septin org>gg>anization and inducing>gg> pseudopodia formation in fibroblasts [provided by RefSeq, Jul 2013]

CDC42EP4 Gene

CDC42 effector protein (Rho g>Gg>TPase binding>gg>) 4

The product of this g>gg>ene is a member of the CDC42-binding>gg> protein family. Members of this family interact with Rho family g>Gg>TPases and reg>gg>ulate the org>gg>anization of the actin cytoskeleton. This protein has been shown to bind both CDC42 and TC10 g>Gg>TPases in a g>Gg>TP-dependent manner. When overexpressed in fibroblasts, this protein was able to induce pseudopodia formation, which sug>gg>g>gg>ested a role in inducing>gg> actin filament assembly and cell shape control. [provided by RefSeq, Jul 2008]

TBKBP1 Gene

TBK1 binding>gg> protein 1

TBKBP1 is an adaptor protein that binds to TBK1 (MIM 604834) and is part of the interaction network in the TNF (MIM 191160)/NFKB (see MIM 164011) pathway (Bouwmeester et al., 2004 [PubMed 14743216]).[supplied by OMIM, Mar 2008]

PITPNC1 Gene

phosphatidylinositol transfer protein, cytoplasmic 1

This g>gg>ene encodes a member of the phosphatidylinositol transfer protein family. The encoded cytoplasmic protein plays a role in multiple processes including>gg> cell sig>gg>naling>gg> and lipid metabolism by facilitating>gg> the transfer of phosphatidylinositol between membrane compartments. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene, and a pseudog>gg>ene of this g>gg>ene is located on the long>gg> arm of chromosome 1. [provided by RefSeq, May 2012]

LOC105374156 Gene

protein FAM188B2-like

LOC100631380 Gene

protein phosphatase 6, reg>gg>ulatory subunit 2 pseudog>gg>ene 1

LINC01365 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1365

CYFIP1 Gene

cytoplasmic FMR1 interacting>gg> protein 1

This g>gg>ene encodes a protein that reg>gg>ulates cytoskeletal dynamics and protein translation. The encoded protein is a component of the WAVE reg>gg>ulatory complex (WRC), which promotes actin polymerization. This protein also interacts with the synaptic functional reg>gg>ulator FMR1 protein and translation initiation factor 4E to inhibit protein translation. A larg>gg>e chromosomal deletion including>gg> this g>gg>ene is associated with increased risk of schizophrenia and epilepsy in human patients. Reduced expression of this g>gg>ene has been observed in various human cancers and the encoded protein may inhibit tumor invasion. [provided by RefSeq, Mar 2022]

CYFIP2 Gene

cytoplasmic FMR1 interacting>gg> protein 2

Predicted to enable small g>Gg>TPase binding>gg> activity. Involved in several processes, including>gg> activation of cysteine-type endopeptidase activity; cell-cell adhesion; and reg>gg>ulation of postsynapse assembly. Located in perinuclear reg>gg>ion of cytoplasm and synapse. Part of SCAR complex. Implicated in developmental and epileptic encephalopathy 65. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP29-1 Gene

keratin associated protein 29-1

Predicted to enable structural molecule activity. Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS4XP18 Gene

ribosomal protein S4X pseudog>gg>ene 18

LOC391020 Gene

interferon induced transmembrane protein 3 pseudog>gg>ene

LOC101929349 Gene

activator of 90 kDa heat shock protein ATPase homolog>gg> 2-like

CLMP Gene

CXADR-like membrane protein

This g>gg>ene encodes a type I transmembrane protein that is localized to junctional complexes between endothelial and epithelial cells and may have a role in cell-cell adhesion. Expression of this g>gg>ene in white adipose tissue is implicated in adipocyte maturation and development of obesity. This g>gg>ene is also essential for normal intestinal development and mutations in the g>gg>ene are associated with cong>gg>enital short bowel syndrome. [provided by RefSeq, Aug>gg> 2015]

RPS28P5 Gene

ribosomal protein S28 pseudog>gg>ene 5

LOC100419882 Gene

transmembrane protein 98 pseudog>gg>ene

LOC100419888 Gene

zinc fing>gg>er protein 331 pseudog>gg>ene

RPS28P1 Gene

ribosomal protein S28 pseudog>gg>ene 1

CEP170P1 Gene

centrosomal protein 170kDa pseudog>gg>ene 1

This locus appears to be a transcribed pseudog>gg>ene similar to centrosomal protein 170kDa (CEP170). An approximately 50 kb reg>gg>ion upstream of this locus also is homolog>gg>ous to CEP170, but is not transcribed. [provided by RefSeq, Jul 2008]

RPS28P8 Gene

ribosomal protein S28 pseudog>gg>ene 8

RPS28P9 Gene

ribosomal protein S28 pseudog>gg>ene 9

FAM205CP Gene

transmembrane protein C9orf144B pseudog>gg>ene

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF213 Gene

zinc fing>gg>er protein 213

C2H2 zinc fing>gg>er proteins, such as ZNF213, have bipartite structures in which one domain binds DNA or RNA and the other modulates targ>gg>et g>gg>ene expression.[supplied by OMIM, Apr 2004]

CRABP1 Gene

cellular retinoic acid binding>gg> protein 1

This g>gg>ene encodes a specific binding>gg> protein for a vitamin A family member and is thoug>gg>ht to play an important role in retinoic acid-mediated differentiation and proliferation processes. It is structurally similar to the cellular retinol-binding>gg> proteins, but binds only retinoic acid at specific sites within the nucleus, which may contribute to vitamin A-directed differentiation in epithelial tissue. [provided by RefSeq, Jul 2008]

ZNF419 Gene

zinc fing>gg>er protein 419

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF418 Gene

zinc fing>gg>er protein 418

Enables DNA-binding>gg> transcription repressor activity. Predicted to be involved in microautophag>gg>y; reg>gg>ulation of proteasomal ubiquitin-dependent protein catabolic process; and reg>gg>ulation of transcription by RNA polymerase II. Is active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF417 Gene

zinc fing>gg>er protein 417

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF416 Gene

zinc fing>gg>er protein 416

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in microautophag>gg>y; reg>gg>ulation of proteasomal ubiquitin-dependent protein catabolic process; and reg>gg>ulation of transcription by RNA polymerase II. Predicted to act upstream of or within cardiac muscle hypertrophy; neg>gg>ative reg>gg>ulation of cell g>gg>rowth involved in cardiac muscle cell development; and neg>gg>ative reg>gg>ulation of protein phosphorylation. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF415 Gene

zinc fing>gg>er protein 415

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Located in fibrillar center and microtubule cytoskeleton. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF414 Gene

zinc fing>gg>er protein 414

Predicted to enable DNA-binding>gg> transcription factor activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF410 Gene

zinc fing>gg>er protein 410

Enables DNA-binding>gg> transcription factor activity and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of g>gg>ene expression and positive reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in chromosome. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC01547 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1547

Located in endoplasmic reticulum. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC01546 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1546

LINC01545 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1545

RASA4 Gene

RAS p21 protein activator 4

This g>gg>ene encodes a member of the g>Gg>AP1 family of g>Gg>TPase-activating>gg> proteins that suppresses the Ras/mitog>gg>en-activated protein kinase pathway in response to Ca(2+). Stimuli that increase intracellular Ca(2+) levels result in the translocation of this protein to the plasma membrane, where it activates Ras g>Gg>TPase activity. Consequently, Ras is converted from the active g>Gg>TP-bound state to the inactive g>Gg>DP-bound state and no long>gg>er activates downstream pathways that reg>gg>ulate g>gg>ene expression, cell g>gg>rowth, and differentiation. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

LINC01549 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1549

LINC01548 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1548

RASA2 Gene

RAS p21 protein activator 2

The protein encoded by this g>gg>ene is member of the g>Gg>AP1 family of g>Gg>TPase-activating>gg> proteins. The g>gg>ene product stimulates the g>Gg>TPase activity of normal RAS p21 but not its oncog>gg>enic counterpart. Acting>gg> as a suppressor of RAS function, the protein enhances the weak intrinsic g>Gg>TPase activity of RAS proteins resulting>gg> in the inactive g>Gg>DP-bound form of RAS, thereby allowing>gg> control of cellular proliferation and differentiation. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Dec 2014]

RASA3 Gene

RAS p21 protein activator 3

This g>gg>ene encodes a protein that binds inositol 1,3,4,5-tetrakisphosphate and stimulates the g>Gg>TPase activity of Ras p21. This protein functions as a neg>gg>ative reg>gg>ulator of the Ras sig>gg>nalling>gg> pathway. It is localized to the cell membrane via a pleckstrin homolog>gg>y (PH) domain in the C-terminal reg>gg>ion. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Mar 2016]

AMER1 Gene

APC membrane recruitment protein 1

The protein encoded by this g>gg>ene upreg>gg>ulates trancriptional activation by the Wilms tumor protein and interacts with many other proteins, including>gg> CTNNB1, APC, AXIN1, and AXIN2. Defects in this g>gg>ene are a cause of osteopathia striata with cranial sclerosis (OSCS). [provided by RefSeq, May 2010]

LOC646012 Gene

aurora kinase A interacting>gg> protein 1 pseudog>gg>ene

RPS10P26 Gene

ribosomal protein S10 pseudog>gg>ene 26

LOC105371063 Gene

putative uncharacterized protein encoded by LINC00596

ABLIM1 Gene

actin binding>gg> LIM protein 1

This g>gg>ene encodes a LIM zinc-binding>gg> domain-containing>gg> protein that binds to actin filaments and mediates interactions between actin and cytoplasmic targ>gg>ets. Alternatively spliced transcript variants encoding>gg> different isoforms have been identified. [provided by RefSeq, Jun 2017]

ABLIM3 Gene

actin binding>gg> LIM protein family, member 3

This g>gg>ene encodes a member of the actin-binding>gg> LIM (abLIM) family of proteins. These proteins are characterized by an N-terminal LIM domain and a C-terminal dematin-like domain. The encoded protein interacts with actin filaments and may be a component of adherens junctions in several cell types. A variant of this g>gg>ene may be associated with pain sensitivity in male human patients. [provided by RefSeq, Sep 2016]

ABLIM2 Gene

actin binding>gg> LIM protein family, member 2

Predicted to enable actin filament binding>gg> activity. Predicted to be involved in lamellipodium assembly. Predicted to act upstream of or within positive reg>gg>ulation of transcription by RNA polymerase II. Located in actin cytoskeleton. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00633 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 633

LINC00630 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 630

LINC00636 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 636

LINC00637 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 637

LINC00635 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 635

LINC00638 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 638

LINC00639 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 639

LOC729080 Gene

g>gg>lycine cleavag>gg>e system protein H (aminomethyl carrier) pseudog>gg>ene

RPL34P24 Gene

ribosomal protein L34 pseudog>gg>ene 24

LOC102724187 Gene

uroplakin-3b-like protein-like

TFAP4 Gene

transcription factor AP-4 (activating>gg> enhancer binding>gg> protein 4)

Transcription factors of the basic helix-loop-helix-zipper (bHLH-ZIP) family contain a basic domain, which is used for DNA binding>gg>, and HLH and ZIP domains, which are used for olig>gg>omerization. Transcription factor AP4 activates both viral and cellular g>gg>enes by binding>gg> to the symmetrical DNA sequence CAg>Gg>CTg>Gg> (Mermod et al., 1988 [PubMed 2833704]; Hu et al., 1990 [PubMed 2123466]).[supplied by OMIM, Jul 2009]

SPDL1 Gene

spindle apparatus coiled-coil protein 1

This g>gg>ene encodes a coiled-coil domain-containing>gg> protein that functions in mitotic spindle formation and chromosome seg>gg>reg>gg>ation. The encoded protein plays a role in coordinating>gg> microtubule attachment by promoting>gg> recruitment of dynein proteins, and in mitotic checkpoint sig>gg>naling>gg>. [provided by RefSeq, Jul 2016]

ST13P19 Gene

suppression of tumorig>gg>enicity 13 (colon carcinoma) (Hsp70 interacting>gg> protein) pseudog>gg>ene 19

ST13P18 Gene

suppression of tumorig>gg>enicity 13 (colon carcinoma) (Hsp70 interacting>gg> protein) pseudog>gg>ene 18

ST13P17 Gene

suppression of tumorig>gg>enicity 13 (colon carcinoma) (Hsp70 interacting>gg> protein) pseudog>gg>ene 17

ST13P16 Gene

suppression of tumorig>gg>enicity 13 (colon carcinoma) (Hsp70 interacting>gg> protein) pseudog>gg>ene 16

ST13P15 Gene

suppression of tumorig>gg>enicity 13 (colon carcinoma) (Hsp70 interacting>gg> protein) pseudog>gg>ene 15

ST13P14 Gene

suppression of tumorig>gg>enicity 13 (colon carcinoma) (Hsp70 interacting>gg> protein) pseudog>gg>ene 14

ST13P13 Gene

suppression of tumorig>gg>enicity 13 (colon carcinoma) (Hsp70 interacting>gg> protein) pseudog>gg>ene 13

ST13P12 Gene

suppression of tumorig>gg>enicity 13 (colon carcinoma) (Hsp70 interacting>gg> protein) pseudog>gg>ene 12

ST13P11 Gene

suppression of tumorig>gg>enicity 13 (colon carcinoma) (Hsp70 interacting>gg> protein) pseudog>gg>ene 11

ST13P10 Gene

suppression of tumorig>gg>enicity 13 (colon carcinoma) (Hsp70 interacting>gg> protein) pseudog>gg>ene 10

LOC102724728 Gene

putative POM121-like protein 1

LOC102724727 Gene

protein FRg>Gg>1B-like

LOC100128373 Gene

AKT interacting>gg> protein pseudog>gg>ene

MRPL22P1 Gene

mitochondrial ribosomal protein L22 pseudog>gg>ene 1

LOC100996316 Gene

ankyrin repeat domain-containing>gg> protein 20A2-like

LOC401679 Gene

filamin binding>gg> LIM protein 1 pseudog>gg>ene

LOC105379731 Gene

putative uncharacterized protein FLJ44672

TMEM258 Gene

transmembrane protein 258

Predicted to enable olig>gg>osaccharyltransferase complex binding>gg> activity. Involved in protein N-linked g>gg>lycosylation. Located in endoplasmic reticulum and membrane. Part of olig>gg>osaccharyltransferase complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM257 Gene

transmembrane protein 257

This intronless g>gg>ene is expressed in the hippocampus and maps close to a candidate reg>gg>ion for several X-linked mental retardation (XLMR) syndromes. It is conserved in primates, cow, and horse, but not found in mouse and rat. The exact function of this g>gg>ene is not known, but on the basis of its physical location and expression pattern, it is proposed to have an important function in the brain. [provided by RefSeq, Jan 2010]

TMEM256 Gene

transmembrane protein 256

Located in extracellular exosome and mitochondrion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM254 Gene

transmembrane protein 254

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM253 Gene

transmembrane protein 253

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM252 Gene

transmembrane protein 252

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM251 Gene

transmembrane protein 251

Involved in lysosomal transport; lysosome org>gg>anization; and reg>gg>ulation of vesicle-mediated transport. Located in g>Gg>olg>gg>i cisterna. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC646044 Gene

sing>gg>le stranded DNA binding>gg> protein 4 pseudog>gg>ene

CP20 Gene

Lymphocyte cytosolic protein, molecular weig>gg>ht 20kD

LOC729557 Gene

density-reg>gg>ulated protein pseudog>gg>ene

RBPJL Gene

recombination sig>gg>nal binding>gg> protein for immunog>gg>lobulin kappa J reg>gg>ion-like

This g>gg>ene encodes a member of the suppressor of hairless protein family. A similar protein in mouse is a transcription factor that binds to DNA sequences almost identical to that bound by the Notch g>receptorg> sig>gg>naling>gg> pathway transcription factor recombining>gg> binding>gg> protein J. The mouse protein has been shown to activate transcription in concert with Epstein-Barr virus nuclear antig>gg>en-2. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2013]

SYNCRIP Gene

synaptotag>gg>min binding>gg>, cytoplasmic RNA interacting>gg> protein

This g>gg>ene encodes a member of the cellular heterog>gg>eneous nuclear ribonucleoprotein (hnRNP) family. hnRNPs are RNA binding>gg> proteins that complex with heterog>gg>eneous nuclear RNA (hnRNA) and reg>gg>ulate alternative splicing>gg>, polyadenylation, and other aspects of mRNA metabolism and transport. The encoded protein plays a role in multiple aspects of mRNA maturation and is associated with several multiprotein complexes including>gg> the apoB RNA editing>gg>-complex and survival of motor neurons (SMN) complex. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene, and a pseudog>gg>ene of this g>gg>ene is located on the short arm of chromosome 20. [provided by RefSeq, Dec 2011]

RPL32P36 Gene

ribosomal protein L32 pseudog>gg>ene 36

RPL32P34 Gene

ribosomal protein L32 pseudog>gg>ene 34

RPL32P31 Gene

ribosomal protein L32 pseudog>gg>ene 31

HAR1A Gene

hig>gg>hly accelerated reg>gg>ion 1A (non-protein coding>gg>)

RPS15AP38 Gene

ribosomal protein S15a pseudog>gg>ene 38

RPS15AP39 Gene

ribosomal protein S15a pseudog>gg>ene 39

RPS15AP30 Gene

ribosomal protein S15a pseudog>gg>ene 30

RPS15AP31 Gene

ribosomal protein S15a pseudog>gg>ene 31

RPS15AP32 Gene

ribosomal protein S15a pseudog>gg>ene 32

RPS15AP33 Gene

ribosomal protein S15a pseudog>gg>ene 33

RPS15AP34 Gene

ribosomal protein S15a pseudog>gg>ene 34

RPS15AP35 Gene

ribosomal protein S15a pseudog>gg>ene 35

RPS15AP36 Gene

ribosomal protein S15a pseudog>gg>ene 36

RPS15AP37 Gene

ribosomal protein S15a pseudog>gg>ene 37

LOC101929817 Gene

putative uncharacterized protein FLJ44672

LOC101929812 Gene

putative POM121-like protein 1-like

LINC01348 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1348

ZNF726P1 Gene

zinc fing>gg>er protein 726 pseudog>gg>ene 1

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC442161 Gene

ribosomal protein L7-like 1 pseudog>gg>ene

LOC100130632 Gene

zinc fing>gg>er protein 530-like

Ig>Gg>IP Gene

Ig>gg>A-inducing>gg> protein

Predicted to be located in extracellular reg>gg>ion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF658 Gene

zinc fing>gg>er protein 658

Enables transcription cis-reg>gg>ulatory reg>gg>ion binding>gg> activity. Involved in cellular response to zinc ion; neg>gg>ative reg>gg>ulation of DNA-templated transcription; and ribosome biog>gg>enesis. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF655 Gene

zinc fing>gg>er protein 655

This g>gg>ene encodes a zinc fing>gg>er protein. The zinc fing>gg>er proteins are involved in DNA binding>gg> and protein-protein interactions. Multiple alternatively spliced transcript variants encoding>gg> distinct isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

ZNF653 Gene

zinc fing>gg>er protein 653

Enables AF-2 domain binding>gg> activity; DNA-binding>gg> transcription factor binding>gg> activity; and transcription corepressor activity. Involved in extracellular neg>gg>ative reg>gg>ulation of sig>gg>nal transduction and neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in extracellular reg>gg>ion. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF652 Gene

zinc fing>gg>er protein 652

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

N4BP2L1 Gene

NEDD4 binding>gg> protein 2-like 1

N4BP2L2 Gene

NEDD4 binding>gg> protein 2-like 2

Enables enzyme binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of hematopoietic stem cell differentiation and positive reg>gg>ulation of hematopoietic stem cell proliferation. Located in nucleus. Part of transcription repressor complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF384 Gene

zinc fing>gg>er protein 384

This g>gg>ene encodes a C2H2-type zinc fing>gg>er protein, which may function as a transcription factor. This g>gg>ene also contains long>gg> CAg>Gg> trinucleotide repeats that encode consecutive g>gg>lutamine residues. The protein appears to bind and reg>gg>ulate the promoters of the extracellular matrix g>gg>enes MMP1, MMP3, MMP7 and COL1A1. Studies in mouse sug>gg>g>gg>est that nuclear matrix transcription factors (NP/NMP4) may be part of a g>gg>eneral mechanical pathway that couples cell construction and function during>gg> extracellular matrix remodeling>gg>. Alternative splicing>gg> results in multiple transcript variants. Recurrent rearrang>gg>ements of this g>gg>ene with the Ewing>gg>'s sarcoma g>gg>ene, EWSR1 on chromosome 22, or with the TAF15 g>gg>ene on chromosome 17, or with the TCF3 (E2A) g>gg>ene on chromosome 19, have been observed in acute leukemia. A related pseudog>gg>ene has been identified on chromosome 7. [provided by RefSeq, Apr 2011]

ZNF383 Gene

zinc fing>gg>er protein 383

The protein encoded by this g>gg>ene is a KRAB-related zinc fing>gg>er protein that inhibits the transcription of some MAPK sig>gg>naling>gg> pathway g>gg>enes. The repressor activity resides in the KRAB domain of the encoded protein. [provided by RefSeq, Sep 2016]

POC1A Gene

POC1 centriolar protein A

POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This g>gg>ene encodes one of the two POC1 proteins found in humans. Mutations in this g>gg>ene result in short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) syndrome. [provided by RefSeq, Sep 2012]

POC1B Gene

POC1 centriolar protein B

POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This g>gg>ene encodes one of the two POC1 proteins found in humans. Mutation in this g>gg>ene result in autosomal-recessive cone-rod dystrophy. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Oct 2014]

RPL21P39 Gene

ribosomal protein L21 pseudog>gg>ene 39

RPL21P36 Gene

ribosomal protein L21 pseudog>gg>ene 36

RPL21P37 Gene

ribosomal protein L21 pseudog>gg>ene 37

RPL21P34 Gene

ribosomal protein L21 pseudog>gg>ene 34

RPL21P32 Gene

ribosomal protein L21 pseudog>gg>ene 32

RPL21P33 Gene

ribosomal protein L21 pseudog>gg>ene 33

RPL21P30 Gene

ribosomal protein L21 pseudog>gg>ene 30

RPL21P31 Gene

ribosomal protein L21 pseudog>gg>ene 31

RPL31P42 Gene

ribosomal protein L31 pseudog>gg>ene 42

RPL31P43 Gene

ribosomal protein L31 pseudog>gg>ene 43

RPL31P40 Gene

ribosomal protein L31 pseudog>gg>ene 40

RPL31P41 Gene

ribosomal protein L31 pseudog>gg>ene 41

RPL31P46 Gene

ribosomal protein L31 pseudog>gg>ene 46

RPL31P44 Gene

ribosomal protein L31 pseudog>gg>ene 44

RPL31P45 Gene

ribosomal protein L31 pseudog>gg>ene 45

RPL31P48 Gene

ribosomal protein L31 pseudog>gg>ene 48

RPL31P49 Gene

ribosomal protein L31 pseudog>gg>ene 49

KRTAP3-2 Gene

keratin associated protein 3-2

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal reg>gg>ions and are subdivided into three multi-g>gg>ene families according>gg> to amino acid composition: the hig>gg>h sulfur, the ultrahig>gg>h sulfur, and the hig>gg>h tyrosine/g>gg>lycine KAPs. This protein is a member of the hig>gg>h sulfur KAP family and the g>gg>ene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

KRTAP3-3 Gene

keratin associated protein 3-3

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal reg>gg>ions and are subdivided into three multi-g>gg>ene families according>gg> to amino acid composition: the hig>gg>h sulfur, the ultrahig>gg>h sulfur, and the hig>gg>h tyrosine/g>gg>lycine KAPs. This protein is a member of the hig>gg>h sulfur KAP family and the g>gg>ene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

KRTAP3-1 Gene

keratin associated protein 3-1

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal reg>gg>ions and are subdivided into three multi-g>gg>ene families according>gg> to amino acid composition: the hig>gg>h sulfur, the ultrahig>gg>h sulfur, and the hig>gg>h tyrosine/g>gg>lycine KAPs. This protein is a member of the hig>gg>h sulfur KAP family and the g>gg>ene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

SCHLAP1 Gene

SWI/SNF complex antag>gg>onist associated with prostate cancer 1 (non-protein coding>gg>)

RBMY1HP Gene

RNA binding>gg> motif protein, Y-linked, family 1, member H, pseudog>gg>ene

LINC01550 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1550

LINC01551 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1551

LINC01552 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1552

FLJ44635 Gene

TPT1-like protein

MAP1LC3B2 Gene

microtubule-associated protein 1 lig>gg>ht chain 3 beta 2

Predicted to enable microtubule binding>gg> activity; phosphatidylethanolamine binding>gg> activity; and ubiquitin protein lig>gg>ase binding>gg> activity. Predicted to be involved in cellular response to nitrog>gg>en starvation and macroautophag>gg>y. Located in intracellular membrane-bounded org>gg>anelle. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100996703 Gene

uncharacterized protein C2orf27 pseudog>gg>ene

LOC105378953 Gene

UPF0587 protein C1orf123 homolog>gg> pseudog>gg>ene

Ig>Gg>BP1 Gene

immunog>gg>lobulin (CD79A) binding>gg> protein 1

The proliferation and differentiation of B cells is dependent upon a B-cell antig>gg>en g>receptorg> (BCR) complex. Binding>gg> of antig>gg>ens to specific B-cell g>receptorg>s results in a tyrosine phosphorylation reaction throug>gg>h the BCR complex and leads to multiple sig>gg>nal transduction pathways. [provided by RefSeq, Jul 2008]

TPD52L2 Gene

tumor protein D52-like 2

This g>gg>ene encodes a member of the tumor protein D52-like family. These proteins are characterized by an N-terminal coiled-coil motif that is used to form homo- and heteromeric complexes with other tumor protein D52-like proteins. Expression of this g>gg>ene may be a marker for breast cancer and acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene, and a pseudog>gg>ene of this g>gg>ene is located on the long>gg> arm of chromosome 12. [provided by RefSeq, Aug>gg> 2011]

TPD52L3 Gene

tumor protein D52-like 3

This g>gg>ene encodes a member of the tumor protein D52-like family of proteins. These proteins are characterized by an N-terminal coiled-coil motif that is used to form homo- and heteromeric complexes with other tumor protein D52-like proteins. The encoded protein may play a role in spermatog>gg>enesis. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Oct 2009]

TPD52L1 Gene

tumor protein D52-like 1

This g>gg>ene encodes a member of a family of proteins that contain coiled-coil domains and may form hetero- or homomers. The encoded protein is involved in cell proliferation and calcium sig>gg>naling>gg>. It also interacts with the mitog>gg>en-activated protein kinase kinase kinase 5 (MAP3K5/ASK1) and positively reg>gg>ulates MAP3K5-induced apoptosis. Multiple alternatively spliced transcript variants have been observed. [provided by RefSeq, Jan 2016]

LINC00879 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 879

LINC00877 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 877

LINC00870 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 870

LINC00871 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 871

LOC105375354 Gene

postmeiotic seg>gg>reg>gg>ation increased 2-like protein 5

RPS16P8 Gene

ribosomal protein S16 pseudog>gg>ene 8

ZFP41 Gene

ZFP41 zinc fing>gg>er protein

Enables sequence-specific double-stranded DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZFP42 Gene

ZFP42 zinc fing>gg>er protein

Enables sequence-specific double-stranded DNA binding>gg> activity. Involved in female g>gg>onad development and male g>gg>onad development. Located in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00265-3P Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 265-3, pseudog>gg>ene

LOC100128762 Gene

telomeric repeat binding>gg> factor 2, interacting>gg> protein pseudog>gg>ene

CAP2P1 Gene

CAP, adenylate cyclase-associated protein, 2 (yeast) pseudog>gg>ene 1

KRTAP10-7 Gene

keratin associated protein 10-7

Enables identical protein binding>gg> activity. Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP10-6 Gene

keratin associated protein 10-6

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP10-3 Gene

keratin associated protein 10-3

This g>gg>ene encodes a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal reg>gg>ions and are subdivided into three multi-g>gg>ene families according>gg> to amino acid composition: the hig>gg>h sulfur, the ultrahig>gg>h sulfur, and the hig>gg>h tyrosine/g>gg>lycine KAPs. This g>gg>ene encodes a member of the hig>gg>h sulfur KAP family. It is localized to a cluster of intronless KAPs at 21q22.3 which are located within the introns of the C21orf29 g>gg>ene. [provided by RefSeq, Jul 2008]

KRTAP10-2 Gene

keratin associated protein 10-2

This g>gg>ene encodes a member of the hig>gg>h sulfur-type keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. This g>gg>ene is located in a cluster of similar g>gg>enes on 21q22.3. Alternatively-spliced transcript variants have been identified. [provided by RefSeq, Jan 2015]

KRTAP10-1 Gene

keratin associated protein 10-1

This g>gg>ene encodes a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal reg>gg>ions and are subdivided into three multi-g>gg>ene families according>gg> to amino acid composition: the hig>gg>h sulfur, the ultrahig>gg>h sulfur, and the hig>gg>h tyrosine/g>gg>lycine KAPs. This g>gg>ene encodes a member of the hig>gg>h sulfur KAP family. It is localized to a cluster of intronless KAPs at 21q22.3 which are located within the introns of the C21orf29 g>gg>ene. [provided by RefSeq, Jul 2008]

CHMP6 Gene

charg>gg>ed multivesicular body protein 6

This g>gg>ene encodes a member of the chromatin-modifying>gg> protein/charg>gg>ed multivesicular body protein family. Proteins in this family are part of the ESCRT-III (endosomal sorting>gg> complex required for transport III) which deg>gg>rades surface g>receptorg>s, and in biosynthesis of endosomes. [provided by RefSeq, Mar 2012]

RIMKLA Gene

ribosomal modification protein rimK-like family member A

Predicted to enable N-acetyl-L-aspartate-L-g>gg>lutamate lig>gg>ase activity. Predicted to be involved in g>gg>lutamine family amino acid metabolic process. Predicted to be located in cytosol. Predicted to be active in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RIMKLB Gene

ribosomal modification protein rimK-like family member B

Predicted to enable N-acetyl-L-aspartate-L-g>gg>lutamate lig>gg>ase activity and citrate-L-g>gg>lutamate lig>gg>ase activity. Predicted to be involved in g>gg>lutamine family amino acid metabolic process. Predicted to be located in cytosol. Predicted to be active in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

POMT1 Gene

protein-O-mannosyltransferase 1

The protein encoded by this g>gg>ene is an O-mannosyltransferase that requires interaction with the product of the POMT2 g>gg>ene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this g>gg>ene are a cause of Walker-Warburg>gg> syndrome (WWS) and limb-g>gg>irdle muscular dystrophy type 2K (Lg>Gg>MD2K). Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene.[provided by RefSeq, Oct 2008]

POMT2 Gene

protein-O-mannosyltransferase 2

The protein encoded by this g>gg>ene is an O-mannosyltransferase that requires interaction with the product of the POMT1 g>gg>ene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this g>gg>ene are a cause of Walker-Warburg>gg> syndrome (WWS).[provided by RefSeq, Oct 2008]

NPLOC4 Gene

nuclear protein localization 4 homolog>gg> (S. cerevisiae)

Predicted to enable ubiquitin binding>gg> activity and ubiquitin protein lig>gg>ase binding>gg> activity. Predicted to contribute to K48-linked polyubiquitin modification-dependent protein binding>gg> activity and K63-linked polyubiquitin modification-dependent protein binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of RIg>Gg>-I sig>gg>naling>gg> pathway; neg>gg>ative reg>gg>ulation of type I interferon production; and proteolysis involved in protein catabolic process. Located in nucleus. Part of UFD1-NPL4 complex and VCP-NPL4-UFD1 AAA ATPase complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC102725131 Gene

putative uncharacterized protein ENSP00000383309

SSBP4 Gene

sing>gg>le stranded DNA binding>gg> protein 4

Predicted to enable sing>gg>le-stranded DNA binding>gg> activity. Predicted to be involved in positive reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in membrane. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100420464 Gene

salvador family WW domain containing>gg> protein 1 pseudog>gg>ene

PBLD Gene

phenazine biosynthesis-like protein domain containing>gg>

Enables identical protein binding>gg> activity. Involved in maintenance of g>gg>astrointestinal epithelium. Acts upstream of or within with a positive effect on neg>gg>ative reg>gg>ulation of transforming>gg> g>gg>rowth factor beta g>receptorg> sig>gg>naling>gg> pathway. Located in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL35AP9 Gene

ribosomal protein L35a pseudog>gg>ene 9

RPL35AP8 Gene

ribosomal protein L35a pseudog>gg>ene 8

RPL35AP3 Gene

ribosomal protein L35a pseudog>gg>ene 3

RPL35AP2 Gene

ribosomal protein L35a pseudog>gg>ene 2

RPL35AP7 Gene

ribosomal protein L35a pseudog>gg>ene 7

RPL35AP4 Gene

ribosomal protein L35a pseudog>gg>ene 4

LOC105379538 Gene

putative HERC2-like protein 3

SSRP1 Gene

structure specific recog>gg>nition protein 1

The protein encoded by this g>gg>ene is a subunit of a heterodimer that, along>gg> with SUPT16H, forms chromatin transcriptional elong>gg>ation factor FACT. FACT interacts specifically with histones H2A/H2B to effect nucleosome disassembly and transcription elong>gg>ation. FACT and cisplatin-damag>gg>ed DNA may be crucial to the anticancer mechanism of cisplatin. This encoded protein contains a hig>gg>h mobility g>gg>roup box which most likely constitutes the structure recog>gg>nition element for cisplatin-modified DNA. This protein also functions as a co-activator of the transcriptional activator p63. An alternatively spliced transcript variant of this g>gg>ene has been described, but its full-leng>gg>th nature is not known. [provided by RefSeq, Jul 2008]

LINC00969 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 969

LINC00404 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 404

LINC00400 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 400

LINC00403 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 403

LINC00402 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 402

LINC00408 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 408

RFWD2P1 Gene

ring>gg> fing>gg>er and WD repeat domain 2, E3 ubiquitin protein lig>gg>ase pseudog>gg>ene 1

JKAMPP1 Gene

JNK1/MAPK8-associated membrane protein pseudog>gg>ene 1

RPS9P4 Gene

ribosomal protein S9 pseudog>gg>ene 4

RPS9P1 Gene

ribosomal protein S9 pseudog>gg>ene 1

RPS9P2 Gene

ribosomal protein S9 pseudog>gg>ene 2

RPS9P3 Gene

ribosomal protein S9 pseudog>gg>ene 3

RPS3AP8 Gene

ribosomal protein S3a pseudog>gg>ene 8

RPS3AP9 Gene

ribosomal protein S3a pseudog>gg>ene 9

RPS3AP6 Gene

ribosomal protein S3A pseudog>gg>ene 6

RPS3AP7 Gene

ribosomal protein S3a pseudog>gg>ene 7

MOBP Gene

myelin-associated olig>gg>odendrocyte basic protein

Predicted to be a structural constituent of myelin sheath. Predicted to be involved in nervous system development. Predicted to be located in mitochondrion and perinuclear reg>gg>ion of cytoplasm. Implicated in frontotemporal dementia. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS3AP5 Gene

ribosomal protein S3A pseudog>gg>ene 5

RPS3AP2 Gene

ribosomal protein S3A pseudog>gg>ene 2

RPS3AP3 Gene

ribosomal protein S3A pseudog>gg>ene 3

RPS3AP1 Gene

ribosomal protein S3A pseudog>gg>ene 1

HSP90AA3P Gene

heat shock protein 90kDa alpha (cytosolic), class A member 3, pseudog>gg>ene

CHP1 Gene

calcineurin-like EF-hand protein 1

This g>gg>ene encodes a phosphoprotein that binds to the Na+/H+ exchang>gg>er NHE1. This protein serves as an essential cofactor which supports the physiolog>gg>ical activity of NHE family members and may play a role in the mitog>gg>enic reg>gg>ulation of NHE1. The protein shares similarity with calcineurin B and calmodulin and it is also known to be an endog>gg>enous inhibitor of calcineurin activity. [provided by RefSeq, Jul 2008]

CFAP126 Gene

cilia and flag>gg>ella associated protein 126

Predicted to be involved in cilium org>gg>anization and flag>gg>ellated sperm motility. Located in axonemal microtubule. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100419762 Gene

zinc fing>gg>er protein 773 pseudog>gg>ene

RPL37AP6 Gene

ribosomal protein L37a pseudog>gg>ene 6

CALY Gene

calcyon neuron-specific vesicular protein

The protein encoded by this g>gg>ene is a type II sing>gg>le transmembrane protein. It is required for maximal stimulated calcium release after stimulation of purinerg>gg>ic or muscarinic but not beta-adrenerg>gg>ic g>receptorg>s. The encoded protein interacts with D1 dopamine g>receptorg> and may interact with other DA g>receptorg> subtypes and/or g>Gg>PCRs. [provided by RefSeq, Jul 2008]

LOC100130861 Gene

zinc fing>gg>er protein 736 pseudog>gg>ene

RFFL Gene

ring>gg> fing>gg>er and FYVE-like domain containing>gg> E3 ubiquitin protein lig>gg>ase

Enables enzyme binding>gg> activity; p53 binding>gg> activity; and ubiquitin protein lig>gg>ase activity. Involved in several processes, including>gg> neg>gg>ative reg>gg>ulation of cysteine-type endopeptidase activity; neg>gg>ative reg>gg>ulation of sig>gg>nal transduction; and protein K48-linked ubiquitination. Located in endosome membrane and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LSAMP Gene

limbic system-associated membrane protein

This g>gg>ene encodes a member of the immunog>gg>lobulin LAMP, OBCAM and neurotrimin (Ig>gg>LON) family of proteins. The encoded preproprotein is proteolytically processed to g>gg>enerate a neuronal surface g>gg>lycoprotein. This protein may act as a selective homophilic adhesion molecule during>gg> axon g>gg>uidance and neuronal g>gg>rowth in the developing>gg> limbic system. The encoded protein may also function as a tumor suppressor and may play a role in neuropsychiatric disorders. Alternative splicing>gg> results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]

SPRR4 Gene

small proline-rich protein 4

Predicted to be involved in keratinization. Predicted to be located in cell cortex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SPRR3 Gene

small proline-rich protein 3

Predicted to enable structural molecule activity. Predicted to be involved in keratinocyte differentiation and wound healing>gg>. Located in g>Gg>olg>gg>i apparatus and perinuclear reg>gg>ion of cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL38P4 Gene

ribosomal protein L38 pseudog>gg>ene 4

RPL38P1 Gene

ribosomal protein L38 pseudog>gg>ene 1

RPL38P2 Gene

ribosomal protein L38 pseudog>gg>ene 2

RPL38P3 Gene

ribosomal protein L38 pseudog>gg>ene 3

LOC100419565 Gene

ribosomal protein S3A pseudog>gg>ene

LOC100419562 Gene

ribosomal protein L13 pseudog>gg>ene

USP17L Gene

ubiquitin carboxyl-terminal hydrolase 17-like protein

SSX2IP Gene

synovial sarcoma, X breakpoint 2 interacting>gg> protein

This g>gg>ene encodes a protein that binds the cancer-testis antig>gg>en Synovial Sarcoma X breakpoint 2 protein. The encoded protein may reg>gg>ulate the activity of Synovial Sarcoma X breakpoint 2 protein in malig>gg>nant cells. Alternate splicing>gg> results in multiple transcript variants. A pseudog>gg>ene of this g>gg>ene is found on chromosome 3. [provided by RefSeq, Oct 2009]

ATXN8OS Gene

ATXN8 opposite strand (non-protein coding>gg>)

This g>gg>ene is an antisense transcript to the KLHL1 g>gg>ene (homolog>gg> to the Drosophila KELCH g>gg>ene); it does not itself appear to be protein coding>gg>. A TAC/Tg>Gg>C trinucleotide repeat expansion that is incorporated into this g>gg>ene transcript, but not the KLHL1 transcript, causes spinocerebellar ataxia type 8. Presumably the expansion interferes with normal antisense function of this transcript. [provided by RefSeq, Oct 2008]

LINC01510 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1510

This g>gg>ene encodes a natural antisense transcript hig>gg>hly expressed in papillary thyroid carcinomas harboring>gg> BRAF V600E mutation or RET g>gg>ene rearrang>gg>ements. This lncRNA induces the downstream MAPK pathway and is part of a co-expression network including>gg> different oncog>gg>enes belong>gg>ing>gg> to the MAPK and PI3H/AKT pathways. In thyroid carcinomas, this g>gg>ene has oncog>gg>enic properties associated with increased proliferation and drug>gg> resistance. [provided by RefSeq, Jan 2020]

LINC01114 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1114

LINC01115 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1115

LINC01116 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1116

LINC01117 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1117

LINC01111 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1111

LINC01118 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1118

LINC01514 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1514

MKRN6P Gene

makorin ring>gg> fing>gg>er protein 6, pseudog>gg>ene

LINC00244 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 244

LINC00243 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 243

LINC00242 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 242

LINC00240 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 240

KCNQ1DN Gene

KCNQ1 downstream neig>gg>hbor (non-protein coding>gg>)

Imprinting>gg> is a phenomenon in which epig>gg>enetic modifications lead to expression or suppression of alleles of some g>gg>enes based on their parental orig>gg>in. Wilms tumor-2 (WT2; MIM 194071) is defined by maternal-specific loss of heterozyg>gg>osity of a critical reg>gg>ion on chromosome 11p15.5 that includes several imprinted g>gg>enes. KCNQ1DN is an imprinted g>gg>ene located within the WT2 critical reg>gg>ion that is expressed from the maternal allele (Xin et al., 2000 [PubMed 11056398]).[supplied by OMIM, Mar 2008]

TAF4B Gene

TAF4b RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor, 105kDa

TATA binding>gg> protein (TBP) and TBP-associated factors (TAFs) participate in the formation of the TFIID protein complex, which is involved in initiation of transcription of g>gg>enes by RNA polymerase II. This g>gg>ene encodes a cell type-specific TAF that may be responsible for mediating>gg> transcription by a subset of activators in B cells. Three transcript variants encoding>gg> two different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jun 2014]

FLRT1 Gene

fibronectin leucine rich transmembrane protein 1

This g>gg>ene encodes a member of the fibronectin leucine rich transmembrane protein (FLRT) family. The family members may function in cell adhesion and/or g>receptorg> sig>gg>nalling>gg>. Their protein structures resemble small leucine-rich proteog>gg>lycans found in the extracellular matrix. The encoded protein shares sequence similarity with two other family members, FLRT2 and FLRT3. This g>gg>ene is expressed in kidney and brain. [provided by RefSeq, Jul 2008]

FLRT3 Gene

fibronectin leucine rich transmembrane protein 3

This g>gg>ene encodes a member of the fibronectin leucine rich transmembrane protein (FLRT) family. FLRTs may function in cell adhesion and/or g>receptorg> sig>gg>nalling>gg>. Their protein structures resemble small leucine-rich proteog>gg>lycans found in the extracellular matrix. This g>gg>ene is expressed in many tissues. Two alternatively spliced transcript variants encoding>gg> the same protein have been described for this g>gg>ene. [provided by RefSeq, Jul 2010]

FLRT2 Gene

fibronectin leucine rich transmembrane protein 2

This g>gg>ene encodes a member of the fibronectin leucine rich transmembrane (FLRT) family of cell adhesion molecules, which reg>gg>ulate early embryonic vascular and neural development. The encoded type I transmembrane protein has an extracellular reg>gg>ion consisting>gg> of an N-terminal leucine-rich repeat domain and a type 3 fibronectin domain, followed by a transmembrane domain and a short C-terminal cytoplasmic tail domain. It functions as both a homophilic cell adhesion molecule and a heterophilic chemorepellent throug>gg>h its interaction with members of the uncoordinated-5 g>receptorg> family. Proteolytic removal of the extracellular reg>gg>ion controls the mig>gg>ration of neurons in the developing>gg> cortex. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Sep 2016]

IFITM8P Gene

interferon induced transmembrane protein 8 pseudog>gg>ene

LINC00939 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 939

LINC00938 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 938

LINC00930 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 930

LINC00933 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 933

LINC00935 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 935

Predicted to be involved in flag>gg>ellated sperm motility. Predicted to be located in cytoplasm; cytoskeleton; and sperm flag>gg>ellum. Predicted to be active in axonemal A tubule inner sheath. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00934 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 934

LINC00937 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 937

PPP6C Gene

protein phosphatase 6, catalytic subunit

This g>gg>ene encodes the catalytic subunit of protein phosphatase, a component of a sig>gg>naling>gg> pathway reg>gg>ulating>gg> cell cycle prog>gg>ression. Splice variants encoding>gg> different protein isoforms exist. The pseudog>gg>ene of this g>gg>ene is located on chromosome X. [provided by RefSeq, Jul 2008]

ZNF192P2 Gene

zinc fing>gg>er protein 192 pseudog>gg>ene 2

LINC00443 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 443

ZNF192P1 Gene

zinc fing>gg>er protein 192 pseudog>gg>ene 1

Predicted to enable metal ion binding>gg> activity. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PHF5EP Gene

PHD fing>gg>er protein 5E pseudog>gg>ene

CEP128 Gene

centrosomal protein 128kDa

Involved in protein localization. Located in g>Gg>olg>gg>i apparatus; microtubule cytoskeleton; and nuclear membrane. Part of centriolar subdistal appendag>gg>e. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

HSPA4L Gene

heat shock 70kDa protein 4-like

The protein encoded by this g>gg>ene is heat shock inducible and may act as a chaperone. The encoded protein can protect the heat-shocked cell ag>gg>ainst the harmful effects of ag>gg>g>gg>reg>gg>ated proteins. This g>gg>ene is hig>gg>hly expressed in leukemia cells and may be a g>gg>ood targ>gg>et for therapeutic intervention. Several transcripts encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Dec 2015]

MOK Gene

MOK protein kinase

This g>gg>ene belong>gg>s to the MAP kinase superfamily. The g>gg>ene was found to be reg>gg>ulated by caudal type transcription factor 2 (Cdx2) protein. The encoded protein, which is localized to epithelial cells in the intestinal crypt, may play a role in g>gg>rowth arrest and differentiation of cells of upper crypt and lower villus reg>gg>ions. Multiple alternatively spliced transcript variants encoding>gg> different isoforms have been observed for this g>gg>ene. [provided by RefSeq, Dec 2012]

LINC01099 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1099

EIF4EBP1 Gene

eukaryotic translation initiation factor 4E binding>gg> protein 1

This g>gg>ene encodes one member of a family of translation repressor proteins. The protein directly interacts with eukaryotic translation initiation factor 4E (eIF4E), which is a limiting>gg> component of the multisubunit complex that recruits 40S ribosomal subunits to the 5' end of mRNAs. Interaction of this protein with eIF4E inhibits complex assembly and represses translation. This protein is phosphorylated in response to various sig>gg>nals including>gg> UV irradiation and insulin sig>gg>naling>gg>, resulting>gg> in its dissociation from eIF4E and activation of mRNA translation. [provided by RefSeq, Jul 2008]

EIF4EBP3 Gene

eukaryotic translation initiation factor 4E binding>gg> protein 3

This g>gg>ene encodes a member of the EIF4EBP family, which consists of proteins that bind to eukaryotic translation initiation factor 4E and reg>gg>ulate its assembly into EIF4F, the multi-subunit translation initiation factor that recog>gg>nizes the mRNA cap structure. Read-throug>gg>h transcription from the neig>gg>hboring>gg> upstream g>gg>ene (MASK or ANKHD1) g>gg>enerates a transcript (MASK-BP3) that encodes a protein comprised of the MASK protein sequence for the majority of the protein and a different C-terminus due to an alternate reading>gg> frame for the EIF4EBP3 seg>gg>ments. [provided by RefSeq, Oct 2010]

CEP120 Gene

centrosomal protein 120kDa

This g>gg>ene encodes a protein that functions in the microtubule-dependent coupling>gg> of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear mig>gg>ration, which is a characteristic pattern of nuclear movement in neural prog>gg>enitors, and in neural prog>gg>enitor self-renewal. Mutations in this g>gg>ene are predicted to result in neurog>gg>enic defects. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Oct 2009]

LOC102723655 Gene

TP53-targ>gg>et g>gg>ene 3 protein

TMPPE Gene

transmembrane protein with metallophosphoesterase domain

Predicted to enable hydrolase activity and metal ion binding>gg> activity. Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100419975 Gene

transmembrane protein 192 pseudog>gg>ene

MRPS17 Gene

mitochondrial ribosomal protein S17

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 28S subunit protein that belong>gg>s to the ribosomal protein S17P family. The encoded protein is moderately conserved between human mitochondrial and prokaryotic ribosomal proteins. Pseudog>gg>enes corresponding>gg> to this g>gg>ene are found on chromosomes 1p, 3p, 6q, 14p, 18q, and Xq. [provided by RefSeq, Jul 2008]

RPL12P32 Gene

ribosomal protein L12 pseudog>gg>ene 32

RPL12P34 Gene

ribosomal protein L12 pseudog>gg>ene 34

RPL12P35 Gene

ribosomal protein L12 pseudog>gg>ene 35

RPL12P37 Gene

ribosomal protein L12 pseudog>gg>ene 37

RPL12P39 Gene

ribosomal protein L12 pseudog>gg>ene 39

LOC100420549 Gene

centrosomal protein 83kDa pseudog>gg>ene

RFPL4B Gene

ret fing>gg>er protein-like 4B

Predicted to enable ubiquitin protein lig>gg>ase activity. Predicted to be involved in several processes, including>gg> defense response to symbiont; neg>gg>ative reg>gg>ulation of viral entry into host cell; and neg>gg>ative reg>gg>ulation of viral transcription. Predicted to be active in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RFPL4A Gene

ret fing>gg>er protein-like 4A

Predicted to enable protein homodimerization activity; protein kinase binding>gg> activity; and ubiquitin protein lig>gg>ase activity. Predicted to be involved in several processes, including>gg> positive reg>gg>ulation of autophag>gg>y; positive reg>gg>ulation of canonical NF-kappaB sig>gg>nal transduction; and reg>gg>ulation of viral entry into host cell. Predicted to be located in female g>gg>erm cell nucleus. Predicted to be active in cytosol and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RILPL1 Gene

Rab interacting>gg> lysosomal protein-like 1

Predicted to enable dynein lig>gg>ht intermediate chain binding>gg> activity and small g>Gg>TPase binding>gg> activity. Predicted to be involved in several processes, including>gg> epithelial cell morphog>gg>enesis; nitric oxide mediated sig>gg>nal transduction; and protein transport from ciliary membrane to plasma membrane. Located in cytosol; nucleoplasm; and plasma membrane. Implicated in oculopharyng>gg>odistal myopathy 4. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RILPL2 Gene

Rab interacting>gg> lysosomal protein-like 2

This g>gg>ene encodes a protein that contains a rab-interacting>gg> lysosomal protein-like domain. This protein may be involved in reg>gg>ulating>gg> lysosome morpholog>gg>y. This protein may also be a targ>gg>et for the Hepatitis C virus and assist in viral replication. Alternate splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jan 2015]

Rg>Gg>S4 Gene

reg>gg>ulator of g>Gg>-protein sig>gg>naling>gg> 4

Reg>gg>ulator of g>Gg> protein sig>gg>naling>gg> (Rg>Gg>S) family members are reg>gg>ulatory molecules that act as g>Gg>TPase activating>gg> proteins (g>Gg>APs) for g>Gg> alpha subunits of heterotrimeric g>Gg> proteins. Rg>Gg>S proteins are able to deactivate g>Gg> protein subunits of the g>Gg>i alpha, g>Gg>o alpha and g>Gg>q alpha subtypes. They drive g>Gg> proteins into their inactive g>Gg>DP-bound forms. Reg>gg>ulator of g>Gg> protein sig>gg>naling>gg> 4 belong>gg>s to this family. All Rg>Gg>S proteins share a conserved 120-amino acid sequence termed the Rg>Gg>S domain. Reg>gg>ulator of g>Gg> protein sig>gg>naling>gg> 4 protein is 37% identical to Rg>Gg>S1 and 97% identical to rat Rg>gg>s4. This protein neg>gg>atively reg>gg>ulate sig>gg>naling>gg> upstream or at the level of the heterotrimeric g>Gg> protein and is localized in the cytoplasm. Alternatively spliced transcript variants have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

Rg>Gg>S5 Gene

reg>gg>ulator of g>Gg>-protein sig>gg>naling>gg> 5

This locus represents naturally occurring>gg> readthroug>gg>h transcription between the neig>gg>hboring>gg> LOC127814295 (uncharacterized LOC127814295) and Rg>Gg>S5 (reg>gg>ulator of g>Gg>-protein sig>gg>naling>gg> 5) g>gg>enes on chromosome 1. Some variants of the readthroug>gg>h transcript encode novel proteins with unique N-termini. [provided by RefSeq, Nov 2022]

Rg>Gg>S6 Gene

reg>gg>ulator of g>Gg>-protein sig>gg>naling>gg> 6

This g>gg>ene encodes a member of the Rg>Gg>S (reg>gg>ulator of g>Gg> protein sig>gg>naling>gg>) family of proteins, which are defined by the presence of a Rg>Gg>S domain that confers the g>Gg>TPase-activating>gg> activity of these proteins toward certain g>Gg> alpha subunits. This protein also belong>gg>s to a subfamily of Rg>Gg>S proteins characterized by the presence of DEP and g>Gg>g>Gg>L domains, the latter a g>Gg> beta 5-interacting>gg> domain. The Rg>Gg>S proteins neg>gg>atively reg>gg>ulate g>Gg> protein sig>gg>naling>gg>, and may modulate neuronal, cardiovascular, lymphocytic activities, and cancer risk. Many alternatively spliced transcript variants encoding>gg> different isoforms with long>gg> or short N-terminal domains, complete or incomplete g>Gg>g>Gg>L domains, and distinct C-terminal domains, have been described for this g>gg>ene, however, the full-leng>gg>th nature of some of these variants is not known.[provided by RefSeq, Mar 2011]

Rg>Gg>S7 Gene

reg>gg>ulator of g>Gg>-protein sig>gg>naling>gg> 7

Enables g>Gg>-protein alpha-subunit binding>gg> activity; g>Gg>-protein beta-subunit binding>gg> activity; and g>Gg>TPase activator activity. Involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway; neg>gg>ative reg>gg>ulation of g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway; and positive reg>gg>ulation of g>Gg>TPase activity. Located in cytosol. Is active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

Rg>Gg>S1 Gene

reg>gg>ulator of g>Gg>-protein sig>gg>naling>gg> 1

This g>gg>ene encodes a member of the reg>gg>ulator of g>Gg>-protein sig>gg>nalling>gg> family. This protein is located on the cytosolic side of the plasma membrane and contains a conserved, 120 amino acid motif called the Rg>Gg>S domain. The protein attenuates the sig>gg>nalling>gg> activity of g>Gg>-proteins by binding>gg> to activated, g>Gg>TP-bound g>Gg> alpha subunits and acting>gg> as a g>Gg>TPase activating>gg> protein (g>Gg>AP), increasing>gg> the rate of conversion of the g>Gg>TP to g>Gg>DP. This hydrolysis allows the g>Gg> alpha subunits to bind g>Gg> beta/g>gg>amma subunit heterodimers, forming>gg> inactive g>Gg>-protein heterotrimers, thereby terminating>gg> the sig>gg>nal. [provided by RefSeq, Jul 2008]

Rg>Gg>S2 Gene

reg>gg>ulator of g>Gg>-protein sig>gg>naling>gg> 2

Reg>gg>ulator of g>Gg> protein sig>gg>naling>gg> (Rg>Gg>S) family members are reg>gg>ulatory molecules that act as g>Gg>TPase activating>gg> proteins (g>Gg>APs) for g>Gg> alpha subunits of heterotrimeric g>Gg> proteins. Rg>Gg>S proteins are able to deactivate g>Gg> protein subunits of the g>Gg>i alpha, g>Gg>o alpha and g>Gg>q alpha subtypes. They drive g>Gg> proteins into their inactive g>Gg>DP-bound forms. Reg>gg>ulator of g>Gg> protein sig>gg>naling>gg> 2 belong>gg>s to this family. The protein acts as a mediator of myeloid differentiation and may play a role in leukemog>gg>enesis. [provided by RefSeq, Aug>gg> 2009]

Rg>Gg>S3 Gene

reg>gg>ulator of g>Gg>-protein sig>gg>naling>gg> 3

This g>gg>ene encodes a member of the reg>gg>ulator of g>Gg>-protein sig>gg>naling>gg> (Rg>Gg>S) family. This protein is a g>Gg>TPase-activating>gg> protein that inhibits g>Gg>-protein-mediated sig>gg>nal transduction. Alternative splicing>gg> and the use of alternative promoters results in multiple transcript variants encoding>gg> different isoforms. Long>gg> isoforms are larg>gg>ely cytosolic and plasma membrane-associated with a function in Wnt sig>gg>naling>gg> and in the epithelial mesenchymal transition, while shorter N-terminally-truncated isoforms can be nuclear. [provided by RefSeq, Jan 2013]

Rg>Gg>S8 Gene

reg>gg>ulator of g>Gg>-protein sig>gg>naling>gg> 8

This g>gg>ene is a member of the reg>gg>ulator of g>Gg> protein sig>gg>naling>gg> (Rg>Gg>S) family and encodes a protein with a sing>gg>le Rg>Gg>S domain. Reg>gg>ulator of g>Gg> protein sig>gg>naling>gg> (Rg>Gg>S) proteins are reg>gg>ulatory and structural components of g>Gg> g>protein-coupledg> g>receptorg> complexes. They accelerate transit throug>gg>h the cycle of g>Gg>TP binding>gg> and hydrolysis to g>Gg>DP, thereby terminating>gg> sig>gg>nal transduction, but paradoxically, also accelerate g>receptorg>-stimulated activation. [provided by RefSeq, Jul 2008]

Rg>Gg>S9 Gene

reg>gg>ulator of g>Gg>-protein sig>gg>naling>gg> 9

This g>gg>ene encodes a member of the Rg>Gg>S family of g>Gg>TPase activating>gg> proteins that function in various sig>gg>naling>gg> pathways by accelerating>gg> the deactivation of g>Gg> proteins. This protein is anchored to photog>receptorg> membranes in retinal cells and deactivates g>Gg> proteins in the rod and cone phototransduction cascades. Mutations in this g>gg>ene result in bradyopsia. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene.[provided by RefSeq, Sep 2009]

LOC101928879 Gene

COMM domain-containing>gg> protein 5-like

CDK2AP1 Gene

cyclin-dependent kinase 2 associated protein 1

The protein encoded by this g>gg>ene is a cyclin-dependent kinase 2 (CDK2) -associated protein which is thoug>gg>ht to neg>gg>atively reg>gg>ulate CDK2 activity by sequestering>gg> monomeric CDK2, and targ>gg>eting>gg> CDK2 for proteolysis. This protein was found to also interact with DNA polymerase alpha/primase and mediate the phosphorylation of the larg>gg>e p180 subunit, which sug>gg>g>gg>ests a reg>gg>ulatory role in DNA replication during>gg> the S-phase of the cell cycle. This protein also forms a core subunit of the nucleosome remodeling>gg> and histone deacetylation (NURD) complex that epig>gg>enetically reg>gg>ulates embryonic stem cell differentiation. This g>gg>ene thus plays a role in both cell-cycle and epig>gg>enetic reg>gg>ulation. Alternative splicing>gg> results in multiple transcript variants encoding>gg> distinct isoforms. [provided by RefSeq, Jul 2012]

CDK2AP2 Gene

cyclin-dependent kinase 2 associated protein 2

This g>gg>ene encodes a protein that interacts with cyclin-dependent kinase 2 associated protein 1. Pseudog>gg>enes associated with this g>gg>ene are located on chromosomes 7 and 9. Alternatively spliced transcript variants have been observed for this g>gg>ene. [provided by RefSeq, Dec 2012]

LOC105379704 Gene

CASP-like protein 4A1

MRPS9 Gene

mitochondrial ribosomal protein S9

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 28S subunit protein. [provided by RefSeq, Jul 2008]

MRPS7 Gene

mitochondrial ribosomal protein S7

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 28S subunit protein. In the prokaryotic ribosome, the comparable protein is thoug>gg>ht to play an essential role in org>gg>anizing>gg> the 3' domain of the 16 S rRNA in the vicinity of the P- and A-sites. Pseudog>gg>enes corresponding>gg> to this g>gg>ene are found on chromosomes 8p and 12p. [provided by RefSeq, Jul 2008]

MRPS6 Gene

mitochondrial ribosomal protein S6

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 28S subunit protein that belong>gg>s to the ribosomal protein S6P family. Pseudog>gg>enes corresponding>gg> to this g>gg>ene are found on chromosomes 1p and 12q. [provided by RefSeq, Jul 2008]

MRPS5 Gene

mitochondrial ribosomal protein S5

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 28S subunit protein that belong>gg>s to the ribosomal protein S5P family. Pseudog>gg>enes corresponding>gg> to this g>gg>ene are found on chromosomes 4q, 5q, and 18q. [provided by RefSeq, Jul 2008]

IFI35 Gene

interferon-induced protein 35

Enables identical protein binding>gg> activity. Involved in several processes, including>gg> macrophag>gg>e activation involved in immune response; neg>gg>ative reg>gg>ulation of non-canonical NF-kappaB sig>gg>nal transduction; and positive reg>gg>ulation of defense response. Located in several cellular components, including>gg> cytosol; extracellular space; and nuclear lumen. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MRPS2 Gene

mitochondrial ribosomal protein S2

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 28S subunit protein that belong>gg>s to the ribosomal protein S2 family. Alternatively spliced transcript variants have been observed for this g>gg>ene. [provided by RefSeq, May 2012]

IFI30 Gene

interferon, g>gg>amma-inducible protein 30

The protein encoded by this g>gg>ene is a lysosomal thiol reductase that at low pH can reduce protein disulfide bonds. The enzyme is expressed constitutively in antig>gg>en-presenting>gg> cells and induced by g>gg>amma-interferon in other cell types. This enzyme has an important role in MHC class II-restricted antig>gg>en processing>gg>. [provided by RefSeq, Jul 2008]

LOC100420092 Gene

poly(rC) binding>gg> protein 1 pseudog>gg>ene

IFIT1P1 Gene

interferon-induced protein with tetratricopeptide repeats 1 pseudog>gg>ene 1

LOC100420166 Gene

ribosomal protein L7-like 1 pseudog>gg>ene

TMEM247 Gene

transmembrane protein 247

Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM241 Gene

transmembrane protein 241

Enables UDP-N-acetylg>gg>lucosamine transmembrane transporter activity. Involved in UDP-N-acetylg>gg>lucosamine transmembrane transport. Located in g>Gg>olg>gg>i apparatus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>ATSL3 Gene

g>Gg>ATS protein-like 3

Enables several functions, including>gg> arg>gg>inine binding>gg> activity; identical protein binding>gg> activity; and protein sequestering>gg> activity. Involved in cellular response to L-arg>gg>inine; cellular response to amino acid starvation; and reg>gg>ulation of TORC1 sig>gg>naling>gg>. Located in g>Gg>ATOR2 complex and cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>ATSL2 Gene

g>Gg>ATS protein-like 2

Enables identical protein binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of TORC1 sig>gg>naling>gg>. Located in g>Gg>ATOR2 complex and cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM242 Gene

transmembrane protein 242

Involved in mitochondrial proton-transporting>gg> ATP synthase complex assembly. Located in mitochondrial inner membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100421419 Gene

protein phosphatase 4, reg>gg>ulatory subunit 2 pseudog>gg>ene

MARCH10 Gene

membrane-associated ring>gg> fing>gg>er (C3HC4) 10, E3 ubiquitin protein lig>gg>ase

MARCH10 is a member of the MARCH family of membrane-bound E3 ubiquitin lig>gg>ases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to targ>gg>et lysines in substrate proteins, thereby sig>gg>naling>gg> their vesicular transport between membrane compartments (Morokuma et al., 2007 [PubMed 17604280]).[supplied by OMIM, Apr 2010]

LOC105370815 Gene

serine/arg>gg>inine repetitive matrix protein 3-like

CAB39 Gene

calcium binding>gg> protein 39

Enables kinase binding>gg> activity and protein serine/threonine kinase activator activity. Involved in intracellular sig>gg>nal transduction; peptidyl-serine phosphorylation; and positive reg>gg>ulation of protein phosphorylation. Located in extracellular exosome. Part of cytoplasm and serine/threonine protein kinase complex. Implicated in hepatocellular carcinoma. Biomarker of hepatocellular carcinoma and pancreatic cancer. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105375109 Gene

skin secretory protein xP2-like

LOC100288151 Gene

SREK1-interacting>gg> protein 1 pseudog>gg>ene

RPS12P25 Gene

ribosomal protein S12 pseudog>gg>ene 25

TSPY18P Gene

testis specific protein, Y-linked 18, pseudog>gg>ene

LINC00322 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 322

YBX1 Gene

Y box binding>gg> protein 1

This g>gg>ene encodes a hig>gg>hly conserved cold shock domain protein that has broad nucleic acid binding>gg> properties. The encoded protein functions as both a DNA and RNA binding>gg> protein and has been implicated in numerous cellular processes including>gg> reg>gg>ulation of transcription and translation, pre-mRNA splicing>gg>, DNA reparation and mRNA packag>gg>ing>gg>. This protein is also a component of messeng>gg>er ribonucleoprotein (mRNP) complexes and may have a role in microRNA processing>gg>. This protein can be secreted throug>gg>h non-classical pathways and functions as an extracellular mitog>gg>en. Aberrant expression of the g>gg>ene is associated with cancer proliferation in numerous tissues. This g>gg>ene may be a prog>gg>nostic marker for poor outcome and drug>gg> resistance in certain cancers. Alternate splicing>gg> results in multiple transcript variants. Pseudog>gg>enes of this g>gg>ene are found on multiple chromosomes. [provided by RefSeq, Sep 2015]

YBX3 Gene

Y box binding>gg> protein 3

Enables RNA binding>gg> activity. Involved in cellular hyperosmotic response; cellular response to tumor necrosis factor; and neg>gg>ative reg>gg>ulation of prog>gg>rammed cell death. Located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

YBX2 Gene

Y box binding>gg> protein 2

This g>gg>ene encodes a nucleic acid binding>gg> protein which is hig>gg>hly expressed in g>gg>erm cells. The encoded protein binds to a Y-box element in the promoters of certain g>gg>enes but also binds to mRNA transcribed from these g>gg>enes. Pseudog>gg>enes for this g>gg>ene are located on chromosome 10 and 15. [provided by RefSeq, Feb 2012]

LOC100289351 Gene

ribosomal protein S12 pseudog>gg>ene

RPL5P1 Gene

ribosomal protein L5 pseudog>gg>ene 1

RPL5P3 Gene

ribosomal protein L5 pseudog>gg>ene 3

RPL5P2 Gene

ribosomal protein L5 pseudog>gg>ene 2

RPL5P5 Gene

ribosomal protein L5 pseudog>gg>ene 5

RPL5P4 Gene

ribosomal protein L5 pseudog>gg>ene 4

RPL5P7 Gene

ribosomal protein L5 pseudog>gg>ene 7

RPL5P6 Gene

ribosomal protein L5 pseudog>gg>ene 6

RPL5P9 Gene

ribosomal protein L5 pseudog>gg>ene 9

RPL36P14 Gene

ribosomal protein L36 pseudog>gg>ene 14

RPL36P15 Gene

ribosomal protein L36 pseudog>gg>ene 15

RPL36P16 Gene

ribosomal protein L36 pseudog>gg>ene 16

RPL36P17 Gene

ribosomal protein L36 pseudog>gg>ene 17

RPL36P10 Gene

ribosomal protein L36 pseudog>gg>ene 10

RPL36P11 Gene

ribosomal protein L36 pseudog>gg>ene 11

RPL36P12 Gene

ribosomal protein L36 pseudog>gg>ene 12

RPL36P13 Gene

ribosomal protein L36 pseudog>gg>ene 13

RPL36P18 Gene

ribosomal protein L36 pseudog>gg>ene 18

RPL36P19 Gene

ribosomal protein L36 pseudog>gg>ene 19

LOC101927920 Gene

probable ribosome biog>gg>enesis protein RLP24 pseudog>gg>ene

LOC101927923 Gene

small integ>gg>ral membrane protein 12-like

LOC105377133 Gene

basic proline-rich protein-like

FLJ10038 Gene

uncharacterized protein FLJ10038

CISH Gene

cytokine inducible SH2-containing>gg> protein

The protein encoded by this g>gg>ene contains a SH2 domain and a SOCS box domain. The protein thus belong>gg>s to the cytokine-induced STAT inhibitor (CIS), also known as suppressor of cytokine sig>gg>naling>gg> (SOCS) or STAT-induced STAT inhibitor (SSI), protein family. CIS family members are known to be cytokine-inducible neg>gg>ative reg>gg>ulators of cytokine sig>gg>naling>gg>. The expression of this g>gg>ene can be induced by IL2, IL3, g>Gg>M-CSF and EPO in hematopoietic cells. Proteasome-mediated deg>gg>radation of this protein has been shown to be involved in the inactivation of the erythropoietin g>receptorg>. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Aug>gg> 2008]

SREK1 Gene

splicing>gg> reg>gg>ulatory g>gg>lutamine/lysine-rich protein 1

This g>gg>ene encodes a member of a family of serine/arg>gg>inine-rich (SR) splicing>gg> proteins containing>gg> RNA recog>gg>nition motif (RRM) domains. The encoded protein interacts with other SR proteins to modulate splice site selection. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Jul 2012]

ZNF497 Gene

zinc fing>gg>er protein 497

Predicted to enable DNA-binding>gg> transcription factor activity and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF496 Gene

zinc fing>gg>er protein 496

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in positive reg>gg>ulation of DNA-templated transcription and reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF493 Gene

zinc fing>gg>er protein 493

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CBLL1 Gene

Cbl proto-oncog>gg>ene-like 1, E3 ubiquitin protein lig>gg>ase

This g>gg>ene encodes an E3 ubiquitin-lig>gg>ase for the E-cadherin complex and mediates its ubiquitination, endocytosis, and deg>gg>radation in the lysosomes. The encoded protein contains a RINg>Gg>-fing>gg>er domain and is also thoug>gg>ht to have a role in control of cell proliferation. A related pseudog>gg>ene has been identified on chromosome X. Alternative splicing>gg> results in a non-coding>gg> transcript variant. [provided by RefSeq, Aug>gg> 2011]

ZNF490 Gene

zinc fing>gg>er protein 490

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105376668 Gene

putative uncharacterized protein DDB_g>Gg>0291608

LOC105376669 Gene

ret fing>gg>er protein-like 4A

LOC105378592 Gene

uncharacterized protein FLJ14100

TMEM185B Gene

transmembrane protein 185B

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM185A Gene

transmembrane protein 185A

The protein encoded by this g>gg>ene is predicted to be a transmembrane protein. This g>gg>ene is best known for localizing>gg> to the Cpg>Gg> island of the frag>gg>ile site FRAXF. The 5' untranslated reg>gg>ion of this g>gg>ene contains a Cg>Gg>g>Gg> trinucleotide repeat sequence that normally consists of 7-40 tandem Cg>Gg>g>Gg> repeats but which can expand to g>gg>reater than 300 repeats. Methylation of the Cpg>Gg> island leads to transcriptional silencing>gg> of this g>gg>ene, but neither the silencing>gg> nor an expanded repeat reg>gg>ion appear to manifest itself in a clear phenotypic manner. Alternative splicing>gg> results in multiple transcript variants. A pseudog>gg>ene of this g>gg>ene has been defined on the X chromosome. [provided by RefSeq, Aug>gg> 2013]

UBXN10 Gene

UBX domain protein 10

Predicted to enable ubiquitin binding>gg> activity. Involved in cilium assembly. Located in cilium and intraciliary transport particle B. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

UBXN11 Gene

UBX domain protein 11

This g>gg>ene encodes a protein with a diverg>gg>ent C-terminal UBX domain. The homolog>gg>ous protein in the rat interacts with members of the Rnd subfamily of Rho g>Gg>TPases at the cell periphery throug>gg>h its C-terminal reg>gg>ion. It also interacts with several heterotrimeric g>Gg> proteins throug>gg>h their g>Gg>-alpha subunits and promotes Rho g>Gg>TPase activation. It is proposed to serve a bidirectional role in the promotion and inhibition of Rho activity throug>gg>h upstream sig>gg>naling>gg> pathways. The 3' coding>gg> sequence of this g>gg>ene contains a polymoprhic reg>gg>ion of 24 nt tandem repeats. Several transcripts containing>gg> between 1.5 and five repeat units have been reported. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

LOC100418538 Gene

ribosomal protein L15 pseudog>gg>ene

LOC100418539 Gene

ribosomal protein L7a pseudog>gg>ene

LOC100418536 Gene

ribosomal protein L7a pseudog>gg>ene

LOC100418534 Gene

ribosomal protein L7a pseudog>gg>ene

LOC100418535 Gene

ribosomal protein L15 pseudog>gg>ene

LOC100418532 Gene

ribosomal protein L13 pseudog>gg>ene

LOC100418530 Gene

ribosomal protein L15 pseudog>gg>ene

TRAIP Gene

TRAF interacting>gg> protein

This g>gg>ene encodes a protein that contains an N-terminal RINg>Gg> fing>gg>er motif and a putative coiled-coil domain. A similar murine protein interacts with TNFR-associated factor 1 (TRAF1), TNFR-associated factor 2 (TRAF2), and cylindromatosis. The interaction with TRAF2 inhibits TRAF2-mediated nuclear factor kappa-B, subunit 1 activation that is required for cell activation and protection ag>gg>ainst apoptosis. [provided by RefSeq, Jul 2008]

UBA52 Gene

ubiquitin A-52 residue ribosomal protein fusion product 1

Ubiquitin is a hig>gg>hly conserved nuclear and cytoplasmic protein that has a major role in targ>gg>eting>gg> cellular proteins for deg>gg>radation by the 26S proteosome. It is also involved in the maintenance of chromatin structure, the reg>gg>ulation of g>gg>ene expression, and the stress response. Ubiquitin is synthesized as a precursor protein consisting>gg> of either polyubiquitin chains or a sing>gg>le ubiquitin moiety fused to an unrelated protein. This g>gg>ene encodes a fusion protein consisting>gg> of ubiquitin at the N terminus and ribosomal protein L40 at the C terminus, a C-terminal extension protein (CEP). Multiple processed pseudog>gg>enes derived from this g>gg>ene are present in the g>gg>enome. [provided by RefSeq, Jul 2008]

RPS3AP54 Gene

ribosomal protein S3a pseudog>gg>ene 54

RPS3AP50 Gene

ribosomal protein S3a pseudog>gg>ene 50

RPS3AP51 Gene

ribosomal protein S3a pseudog>gg>ene 51

RPS3AP52 Gene

ribosomal protein S3a pseudog>gg>ene 52

RPS3AP53 Gene

ribosomal protein S3a pseudog>gg>ene 53

SRg>Gg>AP2D Gene

SLIT-ROBO Rho g>Gg>TPase activating>gg> protein 2D (pseudog>gg>ene)

This locus encodes a member of the SLIT-ROBO Rho g>Gg>TPase activating>gg> protein family. This human-specific locus resulted from seg>gg>mental duplication of the SLIT-ROBO Rho g>Gg>TPase activating>gg> protein 2B locus. This duplicated locus lacks an internal exon, and thus this g>gg>ene copy may not be functional. Expression of this locus appears to be much lower than the similar SLIT-ROBO Rho g>Gg>TPase activating>gg> protein 2C (SRg>Gg>AP2C) locus. The SRg>Gg>AP2C locus has been shown to encode a protein that functions antag>gg>onistically to SLIT-ROBO Rho g>Gg>TPase activating>gg> protein 2 in cortical neuron development. [provided by RefSeq, May 2014]

LINC01327 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1327

LINC01324 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1324

LINC01322 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1322

LINC01320 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1320

OSTM1 Gene

osteopetrosis associated transmembrane protein 1

This g>gg>ene encodes a protein that may be involved in the deg>gg>radation of g>Gg> proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the reg>gg>ulator of the g>Gg>-protein sig>gg>naling>gg> (Rg>Gg>S) family throug>gg>h an N-terminal leucine-rich reg>gg>ion. This protein also has a central RINg>Gg> fing>gg>er-like domain and E3 ubiquitin lig>gg>ase activity. This protein is hig>gg>hly conserved from flies to humans. Defects in this g>gg>ene may cause the autosomal recessive, infantile malig>gg>nant form of osteopetrosis. [provided by RefSeq, Jul 2008]

TSPY23P Gene

testis specific protein, Y-linked 23, pseudog>gg>ene

KRTAP4-16P Gene

keratin associated protein 4-16, pseudog>gg>ene

Predicted to be located in cytosol and keratin filament. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

B9D2 Gene

B9 protein domain 2

This g>gg>ene encodes a B9 domain protein, which are exclusively found in ciliated org>gg>anisms. The g>gg>ene is upreg>gg>ulated during>gg> mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting>gg> expression of this g>gg>ene results in ciliog>gg>enesis defects. [provided by RefSeq, Oct 2009]

HSPD1 Gene

heat shock 60kDa protein 1 (chaperonin)

This g>gg>ene encodes a member of the chaperonin family. The encoded mitochondrial protein may function as a sig>gg>naling>gg> molecule in the innate immune system. This protein is essential for the folding>gg> and assembly of newly imported proteins in the mitochondria. This g>gg>ene is adjacent to a related family member and the reg>gg>ion between the 2 g>gg>enes functions as a bidirectional promoter. Several pseudog>gg>enes have been associated with this g>gg>ene. Two transcript variants encoding>gg> the same protein have been identified for this g>gg>ene. Mutations associated with this g>gg>ene cause autosomal recessive spastic parapleg>gg>ia 13. [provided by RefSeq, Jun 2010]

LOC100132154 Gene

putative ankyrin repeat domain-containing>gg> protein 30B-like

LOC100293704 Gene

serine/arg>gg>inine repetitive matrix protein 3-like

SCRIB Gene

scribbled planar cell polarity protein

This g>gg>ene encodes a protein that was identified as being>gg> similar to the Drosophila scribble protein. The mammalian protein is involved in tumor suppression pathways. As a scaffold protein involved in cell polarization processes, this protein binds to many other proteins. The encoded protein binds to papillomavirus E6 protein via its PDZ domain and the C-terminus of E6. Two alternatively spliced transcript variants that encode different protein isoforms have been found for this g>gg>ene. [provided by RefSeq, Nov 2011]

LOC100507606 Gene

ankyrin repeat domain-containing>gg> protein 33B-like

WWP2 Gene

WW domain containing>gg> E3 ubiquitin protein lig>gg>ase 2

This g>gg>ene encodes a member of the Nedd4 family of E3 lig>gg>ases, which play an important role in protein ubiquitination. The encoded protein contains four WW domains and may play a role in multiple processes including>gg> chondrog>gg>enesis and the reg>gg>ulation of oncog>gg>enic sig>gg>naling>gg> pathways via interactions with Smad proteins and the tumor suppressor PTEN. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene, and a pseudog>gg>ene of this g>gg>ene is located on the long>gg> arm of chromosome 10. [provided by RefSeq, Jul 2012]

WWP1 Gene

WW domain containing>gg> E3 ubiquitin protein lig>gg>ase 1

WW domain-containing>gg> proteins are found in all eukaryotes and play an important role in the reg>gg>ulation of a wide variety of cellular functions such as protein deg>gg>radation, transcription, and RNA splicing>gg>. This g>gg>ene encodes a protein which contains 4 tandem WW domains and a HECT (homolog>gg>ous to the E6-associated protein carboxyl terminus) domain. The encoded protein belong>gg>s to a family of NEDD4-like proteins, which are E3 ubiquitin-lig>gg>ase molecules and reg>gg>ulate key trafficking>gg> decisions, including>gg> targ>gg>eting>gg> of proteins to proteosomes or lysosomes. Alternative splicing>gg> of this g>gg>ene g>gg>enerates at least 6 transcript variants; however, the full leng>gg>th nature of these transcripts has not been defined. [provided by RefSeq, Jul 2008]

DAPL1 Gene

death associated protein-like 1

Predicted to enable ribosome binding>gg> activity; translation initiation factor binding>gg> activity; and translation repressor activity. Predicted to be involved in several processes, including>gg> cellular response to amino acid starvation; neg>gg>ative reg>gg>ulation of CD8-positive, alpha-beta T cell activation; and neg>gg>ative reg>gg>ulation of metabolic process. Predicted to act upstream of or within cell population proliferation and g>gg>ene expression. Predicted to be located in membrane. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS6P3 Gene

ribosomal protein S6 pseudog>gg>ene 3

RPS6P2 Gene

ribosomal protein S6 pseudog>gg>ene 2

Lg>Gg>ALS17A Gene

Charcot-Leyden crystal protein pseudog>gg>ene

INCA1 Gene

inhibitor of CDK, cyclin A1 interacting>gg> protein 1

Enables cyclin binding>gg> activity; cyclin-dependent protein serine/threonine kinase inhibitor activity; and identical protein binding>gg> activity. Acts upstream of or within neg>gg>ative reg>gg>ulation of cyclin-dependent protein serine/threonine kinase activity. Located in cytoplasm and nuclear body. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC343165 Gene

heat shock 70kDa protein 8 pseudog>gg>ene

LOC646629 Gene

zinc fing>gg>er protein 470 pseudog>gg>ene

TAB3P1 Gene

Tg>Gg>F-beta activated kinase 1/MAP3K7 binding>gg> protein 3 pseudog>gg>ene 1

RPL24P6 Gene

ribosomal protein L24 pseudog>gg>ene 6

ZNF826P Gene

zinc fing>gg>er protein 826, pseudog>gg>ene

Predicted to enable DNA-binding>gg> transcription factor activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS6P6 Gene

ribosomal protein S6 pseudog>gg>ene

PWP2 Gene

PWP2 periodic tryptophan protein homolog>gg> (yeast)

Enables RNA binding>gg> activity. Involved in ribosomal small subunit biog>gg>enesis. Part of small-subunit processome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PHF20 Gene

PHD fing>gg>er protein 20

Predicted to enable DNA binding>gg> activity and metal ion binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Located in cytosol; nuclear membrane; and nucleoplasm. Part of MLL1 complex and NSL complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PHF23 Gene

PHD fing>gg>er protein 23

Predicted to enable metal ion binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of autophag>gg>osome assembly; neg>gg>ative reg>gg>ulation of autophag>gg>osome maturation; and positive reg>gg>ulation of protein ubiquitination. Located in nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100506127 Gene

putative uncharacterized protein FLJ37770-like

TAg>Gg>AP Gene

T-cell activation Rhog>Gg>TPase activating>gg> protein

This g>gg>ene encodes a member of the Rho g>Gg>TPase-activator protein superfamily. The encoded protein may function as a Rho g>Gg>TPase-activating>gg> protein. Alterations in this g>gg>ene may be associated with several diseases, including>gg> rheumatoid arthritis, celiac disease, and multiple sclerosis. Alternate splicing>gg> results in multiple transcript variants encoding>gg> distinct isoforms. [provided by RefSeq, Jul 2013]

LOC105373989 Gene

serine/arg>gg>inine repetitive matrix protein 1-like

RPAIN Gene

RPA interacting>gg> protein

Predicted to enable metal ion binding>gg> activity. Acts upstream of or within protein import into nucleus and response to UV. Located in PML body; cytoplasm; and fibrillar center. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF519P3 Gene

zinc fing>gg>er protein 519 pseudog>gg>ene 3

RPS6P4 Gene

ribosomal protein S6 pseudog>gg>ene 4

LOC100509091 Gene

extracellular matrix protein 2-like

LOC105372585 Gene

formin-like protein 5

INE2 Gene

inactivation escape 2 (non-protein coding>gg>)

INE1 Gene

inactivation escape 1 (non-protein coding>gg>)

X chromosome inactivation provides dosag>gg>e compensation for the expression level of X-linked g>gg>enes from the sing>gg>le X in males and the two in females. This X chromosome g>gg>ene is intronless and was identified because its transcription escapes X inactivation in females. This g>gg>ene does not make a protein.[provided by RefSeq, May 2010]

RPL6P29 Gene

ribosomal protein L6 pseudog>gg>ene 29

RPL6P28 Gene

ribosomal protein L6 pseudog>gg>ene 28

RPL6P25 Gene

ribosomal protein L6 pseudog>gg>ene 25

RPL6P24 Gene

ribosomal protein L6 pseudog>gg>ene 24

RPL6P27 Gene

ribosomal protein L6 pseudog>gg>ene 27

RPL6P26 Gene

ribosomal protein L6 pseudog>gg>ene 26

RPL6P21 Gene

ribosomal protein L6 pseudog>gg>ene 21

RPL6P20 Gene

ribosomal protein L6 pseudog>gg>ene 20

RPL6P23 Gene

ribosomal protein L6 pseudog>gg>ene

RPL6P22 Gene

ribosomal protein L6 pseudog>gg>ene 22

RPAP2 Gene

RNA polymerase II associated protein 2

Enables RNA polymerase II CTD heptapeptide repeat phosphatase activity. Involved in PERK-mediated unfolded protein response and snRNA transcription. Located in cytosol and nucleolus. Part of transcription preinitiation complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM37 Gene

transmembrane protein 37

Predicted to enable calcium channel activity and voltag>gg>e-g>gg>ated monoatomic ion channel activity. Predicted to be involved in calcium ion transmembrane transport. Predicted to be located in membrane. Predicted to be part of monoatomic ion channel complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM31 Gene

transmembrane protein 31

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM33 Gene

transmembrane protein 33

Involved in positive reg>gg>ulation of endoplasmic reticulum unfolded protein response; reg>gg>ulation of endoplasmic reticulum tubular network org>gg>anization; and response to endoplasmic reticulum stress. Located in endoplasmic reticulum membrane; melanosome; and nuclear envelope. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PDPK2P Gene

3-phosphoinositide dependent protein kinase 2, pseudog>gg>ene

Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in intracellular sig>gg>nal transduction. Predicted to be located in cytoplasm and membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS20P13 Gene

ribosomal protein S20 pseudog>gg>ene 13

PRH2 Gene

proline-rich protein HaeIII subfamily 2

This g>gg>ene encodes a member of the heterog>gg>eneous family of proline-rich salivary g>gg>lycoproteins. The encoded preproprotein underg>gg>oes proteolytic processing>gg> to g>gg>enerate one or more mature isoforms before secretion from the parotid and submandibular/subling>gg>ual g>gg>lands. In western population this locus is commonly biallelic and encodes proline-rich protein (PRP) isoforms, PRP-1 and PRP-2. The reference g>gg>enome encodes the PRP-1 allele. Certain alleles of this g>gg>ene are associated with susceptibility to dental caries. This g>gg>ene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. [provided by RefSeq, Oct 2015]

PRH1 Gene

proline-rich protein HaeIII subfamily 1

This g>gg>ene encodes a member of the heterog>gg>eneous family of proline-rich salivary g>gg>lycoproteins. The encoded preproprotein underg>gg>oes proteolytic processing>gg> to g>gg>enerate one or more mature isoforms before secretion from the parotid and submandibular/subling>gg>ual g>gg>lands. Multiple distinct alleles of this locus including>gg> the parotid isoelectric-focusing>gg> variant slow (PIF-s), the parotid acidic protein (Pa), and the double band slow (Db-s) isoforms have been characterized. The reference g>gg>enome encodes the Db-s allele. Certain alleles of this g>gg>ene are associated with susceptibility to dental caries. This g>gg>ene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. Co-transcription of this g>gg>ene with adjacent g>gg>enes has been observed. Alternate splicing>gg> of this g>gg>ene results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Oct 2015]

RPS15AP7 Gene

ribosomal protein S15a pseudog>gg>ene 7

LOC101927016 Gene

keratin-associated protein 21-1-like

RPg>Gg>RIP1 Gene

retinitis pig>gg>mentosa g>Gg>TPase reg>gg>ulator interacting>gg> protein 1

This g>gg>ene encodes a photog>receptorg> protein that interacts with retinitis pig>gg>mentosa g>Gg>TPase reg>gg>ulator protein and is a key component of cone and rod photog>receptorg> cells. Mutations in this g>gg>ene lead to autosomal recessive cong>gg>enital blindness. [provided by RefSeq, Oct 2008]

RPS3AP28 Gene

ribosomal protein S3a pseudog>gg>ene 28

LOC101929421 Gene

cyclin-dependent kinase 2-associated protein 1 pseudog>gg>ene

TMEM169 Gene

transmembrane protein 169

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TP63 Gene

tumor protein p63

This g>gg>ene encodes a member of the p53 family of transcription factors. The functional domains of p53 family proteins include an N-terminal transactivation domain, a central DNA-binding>gg> domain and an olig>gg>omerization domain. Alternative splicing>gg> of this g>gg>ene and the use of alternative promoters results in multiple transcript variants encoding>gg> different isoforms that vary in their functional properties. These isoforms function during>gg> skin development and maintenance, adult stem/prog>gg>enitor cell reg>gg>ulation, heart development and premature ag>gg>ing>gg>. Some isoforms have been found to protect the g>gg>ermline by eliminating>gg> oocytes or testicular g>gg>erm cells that have suffered DNA damag>gg>e. Mutations in this g>gg>ene are associated with ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3); split-hand/foot malformation 4 (SHFM4); ankyloblepharon-ectodermal defects-cleft lip/palate; ADULT syndrome (acro-dermato-ung>gg>ual-lacrimal-tooth); limb-mammary syndrome; Rap-Hodg>gg>kin syndrome (RHS); and orofacial cleft 8. [provided by RefSeq, Aug>gg> 2016]

LOC105371804 Gene

leucine-rich repeat-containing>gg> protein 37A3 pseudog>gg>ene

LOC105379252 Gene

coiled-coil domain-containing>gg> protein 29-like

DAP3P1 Gene

death associated protein 3 pseudog>gg>ene 1

DAP3P2 Gene

death associated protein 3 pseudog>gg>ene 2

CRHBP Gene

corticotropin releasing>gg> hormone binding>gg> protein

Corticotropin-releasing>gg> hormone is a potent stimulator of synthesis and secretion of preopiomelanocortin-derived peptides. Althoug>gg>h CRH concentrations in the human peripheral circulation are normally low, they increase throug>gg>hout preg>gg>nancy and fall rapidly after parturition. Maternal plasma CRH probably orig>gg>inates from the placenta. Human plasma contains a CRH-binding>gg> protein which inactivates CRH and which may prevent inappropriate pituitary-adrenal stimulation in preg>gg>nancy. [provided by RefSeq, Jul 2008]

RPL3P5 Gene

ribosomal protein L3 pseudog>gg>ene 5

RPL3P4 Gene

ribosomal protein L3 pseudog>gg>ene 4

RPL3P2 Gene

ribosomal protein L3 pseudog>gg>ene 2

RPL3P1 Gene

ribosomal protein L3 pseudog>gg>ene 1

RPL3P9 Gene

ribosomal protein L3 pseudog>gg>ene 9

RPL3P8 Gene

ribosomal protein L3 pseudog>gg>ene 8

HCg>Gg>18 Gene

HLA complex g>gg>roup 18 (non-protein coding>gg>)

LOC105373314 Gene

UDP-g>Gg>lcNAc:betag>Gg>al beta-1,3-N-acetylg>gg>lucosaminyltransferase-like protein 1

RPL23AP45 Gene

ribosomal protein L23a pseudog>gg>ene 45

RPL23AP44 Gene

ribosomal protein L23a pseudog>gg>ene 44

RPL23AP47 Gene

ribosomal protein L23a pseudog>gg>ene 47

RPL23AP46 Gene

ribosomal protein L23a pseudog>gg>ene 46

RPL23AP41 Gene

ribosomal protein L23a pseudog>gg>ene 41

RPL23AP40 Gene

ribosomal protein L23a pseudog>gg>ene 40

RPL23AP43 Gene

ribosomal protein L23a pseudog>gg>ene 43

RPL23AP42 Gene

ribosomal protein L23a pseudog>gg>ene 42

RPL23AP49 Gene

ribosomal protein L23a pseudog>gg>ene 49

SIRPAP1 Gene

sig>gg>nal-reg>gg>ulatory protein alpha pseudog>gg>ene 1

LINC00433 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 433

RPL30P4 Gene

ribosomal protein L30 pseudog>gg>ene 4

RPL30P5 Gene

ribosomal protein L30 pseudog>gg>ene 5

RPL30P6 Gene

ribosomal protein L30 pseudog>gg>ene 6

RPL30P1 Gene

ribosomal protein L30 pseudog>gg>ene 1

RPL30P2 Gene

ribosomal protein L30 pseudog>gg>ene 2

RPL30P3 Gene

ribosomal protein L30 pseudog>gg>ene 3

RPL30P8 Gene

ribosomal protein L30 pseudog>gg>ene 8

RPL30P9 Gene

ribosomal protein L30 pseudog>gg>ene 9

LOC101929483 Gene

cyclin-dependent kinase 2-associated protein 1 pseudog>gg>ene

RPL7A Gene

ribosomal protein L7a

Cytoplasmic ribosomes, org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 60S subunit. The protein belong>gg>s to the L7AE family of ribosomal proteins. It can interact with a subclass of nuclear hormone g>receptorg>s, including>gg> thyroid hormone g>receptorg>, and inhibit their ability to transactivate by preventing>gg> their binding>gg> to their DNA response elements. This g>gg>ene is included in the surfeit g>gg>ene cluster, a g>gg>roup of very tig>gg>htly linked g>gg>enes that do not share sequence similarity. It is co-transcribed with the U24, U36a, U36b, and U36c small nucleolar RNA g>gg>enes, which are located in its second, fifth, fourth, and sixth introns, respectively. This g>gg>ene rearrang>gg>es with the trk proto-oncog>gg>ene to form the chimeric oncog>gg>ene trk-2h, which encodes an oncoprotein consisting>gg> of the N terminus of ribosomal protein L7a fused to the g>receptorg> tyrosine kinase domain of trk. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

ZNF519 Gene

zinc fing>gg>er protein 519

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity; and chromatin binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF512 Gene

zinc fing>gg>er protein 512

This g>gg>ene encodes a protein containing>gg> four putative zinc fing>gg>er motifs. Zinc fing>gg>er motifs may bind to proteins or nucleic acids. Zinc fing>gg>er-containing>gg> proteins are involved in a variety of processes, including>gg> reg>gg>ulation of transcription. Alternative splicing>gg> results in multiple transcript variants for this g>gg>ene. [provided by RefSeq, Sep 2012]

ZNF513 Gene

zinc fing>gg>er protein 513

The protein encoded by this g>gg>ene is a possible transcriptional reg>gg>ulator involved in retinal development. Defects in this g>gg>ene can be a cause of autosomal-recessive retinitis pig>gg>mentosa. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Mar 2011]

ZNF510 Gene

zinc fing>gg>er protein 510

This g>gg>ene encodes a krueppel C2H2-type zinc-fing>gg>er protein family member. The encoded protein is expressed in several cancer cell types and may be a biomarker for early diag>gg>nosis of these cancers. [provided by RefSeq, Sep 2015]

ZNF511 Gene

zinc fing>gg>er protein 511

Predicted to enable DNA-binding>gg> transcription factor activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF516 Gene

zinc fing>gg>er protein 516

Zinc-fing>gg>er proteins bind nucleic acids and play important roles in various cellular functions, including>gg> cell proliferation, differentiation, and apoptosis. This g>gg>ene encodes a zinc-fing>gg>er protein, and belong>gg>s to the krueppel C2H2-type zinc-fing>gg>er protein family. It may be involved in transcriptional reg>gg>ulation. [provided by RefSeq, Sep 2012]

ZNF514 Gene

zinc fing>gg>er protein 514

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC01424 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1424

LINC01425 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1425

LINC01426 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1426

LINC01427 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1427

LINC01420 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1420

Involved in neg>gg>ative reg>gg>ulation of cytoplasmic mRNA processing>gg> body assembly and nuclear-transcribed mRNA catabolic process. Located in P-body. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC01422 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1422

LINC01423 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1423

LINC01428 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1428

LOC101060596 Gene

putative uncharacterized protein LOC641298

LOC101060128 Gene

putative uncharacterized protein encoded by LINC00174

FAM223A Gene

family with sequence similarity 223, member A (non-protein coding>gg>)

LINC01280 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1280

LINC01281 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1281

LINC01282 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1282

LINC01284 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1284

LINC01285 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1285

LINC01287 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1287

LINC01288 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1288

LINC01289 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1289

LOC100462988 Gene

heat shock 60kDa protein 1 (chaperonin) pseudog>gg>ene

LINC00488 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 488

NDE1 Gene

nudE neurodevelopment protein 1

This g>gg>ene encodes a member of the nuclear distribution E (NudE) family of proteins. The encoded protein is localized at the centrosome and interacts with other centrosome components as part of a multiprotein complex that reg>gg>ulates dynein function. This protein plays an essential role in microtubule org>gg>anization, mitosis and neuronal mig>gg>ration. Mutations in this g>gg>ene cause lissencephaly 4, a disorder characterized by lissencephaly, severe brain atrophy, microcephaly, and severe cog>gg>nitive disability. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Mar 2012]

LINC00484 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 484

LINC00487 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 487

LINC00486 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 486

LINC00483 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 483

LINC00482 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 482

NUDC Gene

nudC nuclear distribution protein

This g>gg>ene encodes a nuclear distribution protein that plays an essential role in mitosis and cytokinesis. The encoded protein is involved in spindle formation during>gg> mitosis and in microtubule org>gg>anization during>gg> cytokinesis. Pseudog>gg>enes of this g>gg>ene are found on chromosome 2. [provided by RefSeq, Feb 2012]

LOC151457 Gene

developmentally reg>gg>ulated g>Gg>TP binding>gg> protein 1 pseudog>gg>ene

LOC402125 Gene

heat shock 70kDa protein 6 (HSP70B') pseudog>gg>ene

CDY10P Gene

chromodomain protein, Y-linked 10 pseudog>gg>ene

RNF208 Gene

ring>gg> fing>gg>er protein 208

Enables ubiquitin-protein transferase activity. Involved in protein autoubiquitination. Located in cytosol and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RNF207 Gene

ring>gg> fing>gg>er protein 207

Enables Hsp70 protein binding>gg> activity and transmembrane transporter binding>gg> activity. Involved in positive reg>gg>ulation of g>gg>ene expression. Located in perinuclear reg>gg>ion of cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

HSPA8P8 Gene

heat shock 70kDa protein 8 pseudog>gg>ene 8

HSPA8P1 Gene

heat shock 70kDa protein 8 pseudog>gg>ene 1

HSPA8P3 Gene

heat shock 70kDa protein 8 pseudog>gg>ene 3

HSPA8P2 Gene

heat shock 70kDa protein 8 pseudog>gg>ene 2

HSPA8P7 Gene

heat shock 70kDa protein 8 pseudog>gg>ene 7

RPL7L1P4 Gene

ribosomal protein L7-like 1 pseudog>gg>ene 4

PROS1 Gene

protein S (alpha)

This g>gg>ene encodes a vitamin K-dependent plasma protein that functions as a cofactor for the anticoag>gg>ulant protease, activated protein C (APC) to inhibit blood coag>gg>ulation. It is found in plasma in both a free, functionally active form and also in an inactive form complexed with C4b-binding>gg> protein. Mutations in this g>gg>ene result in autosomal dominant hereditary thrombophilia. An inactive pseudog>gg>ene of this locus is located at an adjacent reg>gg>ion on chromosome 3. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms that may underg>gg>o similar processing>gg> to g>gg>enerate mature protein. [provided by RefSeq, Oct 2015]

NCKAP5L Gene

NCK-associated protein 5-like

Involved in microtubule bundle formation and microtubule depolymerization. Located in centrosome and microtubule plus-end. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MRPS31P2 Gene

mitochondrial ribosomal protein S31 pseudog>gg>ene 2

MRPS31P1 Gene

mitochondrial ribosomal protein S31 pseudog>gg>ene 1

MRPS31P5 Gene

mitochondrial ribosomal protein S31 pseudog>gg>ene 5

LINC00266-4P Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 266-4, pseudog>gg>ene

LOC102724031 Gene

ribosome biog>gg>enesis protein BMS1 homolog>gg>

LOC440461 Gene

Rho g>Gg>TPase activating>gg> protein 27 pseudog>gg>ene

CNBP Gene

CCHC-type zinc fing>gg>er, nucleic acid binding>gg> protein

This g>gg>ene encodes a nucleic-acid binding>gg> protein with seven zinc-fing>gg>er domains. The protein has a preference for binding>gg> sing>gg>le stranded DNA and RNA. The protein functions in cap-independent translation of ornithine decarboxylase mRNA, and may also function in sterol-mediated transcriptional reg>gg>ulation. A CCTg>Gg> expansion from <30 repeats to 75-11000 repeats in the first intron of this g>gg>ene results in myotonic dystrophy type 2. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2016]

LOC105372013 Gene

basic salivary proline-rich protein 2-like

RPL13AP Gene

ribosomal protein L13a pseudog>gg>ene

LOC646870 Gene

centrosomal protein 57kDa pseudog>gg>ene

RPLP0P10 Gene

ribosomal protein, larg>gg>e, P0 pseudog>gg>ene 10

LOC100132698 Gene

sing>gg>le stranded DNA binding>gg> protein 4 pseudog>gg>ene

BASP1 Gene

brain abundant, membrane attached sig>gg>nal protein 1

This g>gg>ene encodes a membrane bound protein with several transient phosphorylation sites and PEST motifs. Conservation of proteins with PEST sequences among>gg> different species supports their functional sig>gg>nificance. PEST sequences typically occur in proteins with hig>gg>h turnover rates. Immunolog>gg>ical characteristics of this protein are species specific. This protein also underg>gg>oes N-terminal myristoylation. Alternative splicing>gg> results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2012]

RBM17P4 Gene

RNA binding>gg> motif protein 17 pseudog>gg>ene 4

RBM17P2 Gene

RNA binding>gg> motif protein 17 pseudog>gg>ene 2

RBM17P3 Gene

RNA binding>gg> motif protein 17 pseudog>gg>ene 3

RBM17P1 Gene

RNA binding>gg> motif protein 17 pseudog>gg>ene 1

g>Gg>BP1P1 Gene

g>gg>uanylate binding>gg> protein 1, interferon-inducible pseudog>gg>ene 1

YWHAQ Gene

tyrosine 3-monooxyg>gg>enase/tryptophan 5-monooxyg>gg>enase activation protein, theta

This g>gg>ene product belong>gg>s to the 14-3-3 family of proteins which mediate sig>gg>nal transduction by binding>gg> to phosphoserine-containing>gg> proteins. This hig>gg>hly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse and rat ortholog>gg>s. This g>gg>ene is upreg>gg>ulated in patients with amyotrophic lateral sclerosis. It contains in its 5' UTR a 6 bp tandem repeat sequence which is polymorphic, however, there is no correlation between the repeat number and the disease. [provided by RefSeq, Jul 2008]

YWHAH Gene

tyrosine 3-monooxyg>gg>enase/tryptophan 5-monooxyg>gg>enase activation protein, eta

This g>gg>ene product belong>gg>s to the 14-3-3 family of proteins which mediate sig>gg>nal transduction by binding>gg> to phosphoserine-containing>gg> proteins. This hig>gg>hly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and bovine ortholog>gg>s. This g>gg>ene contains a 7 bp repeat sequence in its 5' UTR, and chang>gg>es in the number of this repeat have been associated with early-onset schizophrenia and psychotic bipolar disorder. [provided by RefSeq, Jun 2009]

YWHAB Gene

tyrosine 3-monooxyg>gg>enase/tryptophan 5-monooxyg>gg>enase activation protein, beta

This g>gg>ene encodes a protein belong>gg>ing>gg> to the 14-3-3 family of proteins, members of which mediate sig>gg>nal transduction by binding>gg> to phosphoserine-containing>gg> proteins. This hig>gg>hly conserved protein family is found in both plants and mammals. The encoded protein has been shown to interact with RAF1 and CDC25 phosphatases, sug>gg>g>gg>esting>gg> that it may play a role in linking>gg> mitog>gg>enic sig>gg>naling>gg> and the cell cycle machinery. Two transcript variants, which encode the same protein, have been identified for this g>gg>ene. [provided by RefSeq, Jul 2008]

YWHAg>Gg> Gene

tyrosine 3-monooxyg>gg>enase/tryptophan 5-monooxyg>gg>enase activation protein, g>gg>amma

This g>gg>ene product belong>gg>s to the 14-3-3 family of proteins which mediate sig>gg>nal transduction by binding>gg> to phosphoserine-containing>gg> proteins. This hig>gg>hly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the rat ortholog>gg>. It is induced by g>gg>rowth factors in human vascular smooth muscle cells, and is also hig>gg>hly expressed in skeletal and heart muscles, sug>gg>g>gg>esting>gg> an important role for this protein in muscle tissue. It has been shown to interact with RAF1 and protein kinase C, proteins involved in various sig>gg>nal transduction pathways. [provided by RefSeq, Jul 2008]

YWHAE Gene

tyrosine 3-monooxyg>gg>enase/tryptophan 5-monooxyg>gg>enase activation protein, epsilon

This g>gg>ene product belong>gg>s to the 14-3-3 family of proteins which mediate sig>gg>nal transduction by binding>gg> to phosphoserine-containing>gg> proteins. This hig>gg>hly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the mouse ortholog>gg>. It interacts with CDC25 phosphatases, RAF1 and IRS1 proteins, sug>gg>g>gg>esting>gg> its role in diverse biochemical activities related to sig>gg>nal transduction, such as cell division and reg>gg>ulation of insulin sensitivity. It has also been implicated in the pathog>gg>enesis of small cell lung>gg> cancer. Two transcript variants, one protein-coding>gg> and the other non-protein-coding>gg>, have been found for this g>gg>ene. [provided by RefSeq, Aug>gg> 2008]

ROCK1 Gene

Rho-associated, coiled-coil containing>gg> protein kinase 1

This g>gg>ene encodes a protein serine/threonine kinase that is activated when bound to the g>Gg>TP-bound form of Rho. The small g>Gg>TPase Rho reg>gg>ulates formation of focal adhesions and stress fibers of fibroblasts, as well as adhesion and ag>gg>g>gg>reg>gg>ation of platelets and lymphocytes by shuttling>gg> between the inactive g>Gg>DP-bound form and the active g>Gg>TP-bound form. Rho is also essential in cytokinesis and plays a role in transcriptional activation by serum response factor. This protein, a downstream effector of Rho, phosphorylates and activates LIM kinase, which in turn, phosphorylates cofilin, inhibiting>gg> its actin-depolymerizing>gg> activity. A pseudog>gg>ene, related to this g>gg>ene, is also located on chromosome 18. [provided by RefSeq, Aug>gg> 2015]

ROCK2 Gene

Rho-associated, coiled-coil containing>gg> protein kinase 2

The protein encoded by this g>gg>ene is a serine/threonine kinase that reg>gg>ulates cytokinesis, smooth muscle contraction, the formation of actin stress fibers and focal adhesions, and the activation of the c-fos serum response element. This protein, which is an isozyme of ROCK1 is a targ>gg>et for the small g>Gg>TPase Rho. [provided by RefSeq, Jul 2008]

WNK3 Gene

WNK lysine deficient protein kinase 3

This g>gg>ene encodes a protein belong>gg>ing>gg> to the 'with no lysine' family of serine-threonine protein kinases. These family members lack the catalytic lysine in subdomain II, and instead have a conserved lysine in subdomain I. This family member functions as a positive reg>gg>ulator of the transcellular Ca2+ transport pathway, and it plays a role in the increase of cell survival in a caspase-3-dependent pathway. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, May 2010]

LOC100421121 Gene

small g>Gg> protein sig>gg>naling>gg> modulator 1 pseudog>gg>ene

LOC100421122 Gene

zinc fing>gg>er protein 106 homolog>gg> (mouse) pseudog>gg>ene

SCO1 Gene

SCO1 cytochrome c oxidase assembly protein

Mammalian cytochrome c oxidase (COX) catalyzes the transfer of reducing>gg> equivalents from cytochrome c to molecular oxyg>gg>en and pumps protons across the inner mitochondrial membrane. In yeast, 2 related COX assembly g>gg>enes, SCO1 and SCO2 (synthesis of cytochrome c oxidase), enable subunits 1 and 2 to be incorporated into the holoprotein. This g>gg>ene is the human homolog>gg> to the yeast SCO1 g>gg>ene. [provided by RefSeq, Jul 2008]

ZNF75D Gene

zinc fing>gg>er protein 75D

This g>gg>ene encodes a protein that likely functions as a transcription factor. The protein, which belong>gg>s to the ZNF75 family, includes an N-terminal SCAN domain, a KRAB box, and five C2H2-type zinc fing>gg>er motifs. Another functional g>gg>ene belong>gg>ing>gg> to this family is located on chromosome 16, while pseudog>gg>enes have been identified on chromosomes 11 and 12. Alternative splicing>gg> results in multiple transcripts variants. [provided by RefSeq, Jun 2010]

LOC100533635 Gene

zinc fing>gg>er protein 384 pseudog>gg>ene

RBMY2g>Gg>P Gene

RNA binding>gg> motif protein, Y-linked, family 2, member g>Gg> pseudog>gg>ene

RNF11P2 Gene

ring>gg> fing>gg>er protein 11 pseudog>gg>ene 2

RNF11P1 Gene

ring>gg> fing>gg>er protein 11 pseudog>gg>ene 1

RPL26P30 Gene

ribosomal protein L26 pseudog>gg>ene 30

RPSAP52 Gene

ribosomal protein SA pseudog>gg>ene 52

RPSAP53 Gene

ribosomal protein SA pseudog>gg>ene 53

RPSAP50 Gene

ribosomal protein SA pseudog>gg>ene 50

RPSAP51 Gene

ribosomal protein SA pseudog>gg>ene 51

RPSAP56 Gene

ribosomal protein SA pseudog>gg>ene 56

RPSAP57 Gene

ribosomal protein SA pseudog>gg>ene 57

RPSAP54 Gene

ribosomal protein SA pseudog>gg>ene 54

RPSAP55 Gene

ribosomal protein SA pseudog>gg>ene 55

ZNF750 Gene

zinc fing>gg>er protein 750

This g>gg>ene encodes a protein with a nuclear localization site and a C2H2 zinc fing>gg>er domain. Mutations in this g>gg>ene have been associated with seborrhea-like dermatitis with psoriasiform elements. [provided by RefSeq, Jul 2008]

RPSAP58 Gene

ribosomal protein SA pseudog>gg>ene 58

Predicted to enable laminin binding>gg> activity and laminin g>receptorg> activity. Predicted to be a structural constituent of ribosome. Predicted to be involved in cell adhesion; ribosomal small subunit assembly; and translation. Predicted to be located in several cellular components, including>gg> nucleus; plasma membrane; and ribosome. Predicted to be part of cytosolic small ribosomal subunit. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPSAP59 Gene

ribosomal protein SA pseudog>gg>ene 59

SMIM13 Gene

small integ>gg>ral membrane protein 13

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM12 Gene

small integ>gg>ral membrane protein 12

Located in mitochondrion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM11 Gene

small integ>gg>ral membrane protein 11

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM10 Gene

small integ>gg>ral membrane protein 10

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM17 Gene

small integ>gg>ral membrane protein 17

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM15 Gene

small integ>gg>ral membrane protein 15

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM14 Gene

small integ>gg>ral membrane protein 14

Predicted to act upstream of or within blastocyst hatching>gg>. Located in endoplasmic reticulum. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM19 Gene

small integ>gg>ral membrane protein 19

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM18 Gene

small integ>gg>ral membrane protein 18

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

HACE1 Gene

HECT domain and ankyrin repeat containing>gg> E3 ubiquitin protein lig>gg>ase 1

This g>gg>ene encodes a HECT domain and ankyrin repeat-containing>gg> ubiquitin lig>gg>ase. The encoded protein is involved in specific tag>gg>g>gg>ing>gg> of targ>gg>et proteins, leading>gg> to their subcellular localization or proteasomal deg>gg>radation. The protein is a potential tumor suppressor and is involved in the pathophysiolog>gg>y of several tumors, including>gg> Wilm's tumor. [provided by RefSeq, Mar 2016]

g>Gg>S1-259H13.2 Gene

transmembrane protein 225-like

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PPP1R10P1 Gene

protein phosphatase 1, reg>gg>ulatory subunit 10 pseudog>gg>ene 1

g>Gg>EMIN8P2 Gene

g>gg>em (nuclear org>gg>anelle) associated protein 8 pseudog>gg>ene 2

CAMSAP1 Gene

calmodulin reg>gg>ulated spectrin-associated protein 1

Enables microtubule minus-end binding>gg> activity and spectrin binding>gg> activity. Involved in several processes, including>gg> neuron projection development; reg>gg>ulation of cell morphog>gg>enesis; and reg>gg>ulation of microtubule polymerization. Located in microtubule minus-end. Implicated in complex cortical dysplasia with other brain malformations. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC390860 Gene

ribosomal protein, larg>gg>e, P0 pseudog>gg>ene

LOC102725016 Gene

serine/threonine-protein phosphatase 2A reg>gg>ulatory subunit B'' subunit beta

CFDP1 Gene

craniofacial development protein 1

Predicted to be involved in chromatin remodeling>gg>. Predicted to act upstream of or within several processes, including>gg> cell adhesion; neg>gg>ative reg>gg>ulation of fibroblast apoptotic process; and reg>gg>ulation of cell shape. Predicted to be located in kinetochore. Predicted to be part of Swr1 complex. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100533638 Gene

zinc fing>gg>er protein 85 pseudog>gg>ene

TPPP3 Gene

tubulin polymerization-promoting>gg> protein family member 3

Enables tubulin binding>gg> activity. Involved in decidualization and microtubule bundle formation. Located in microtubule bundle and perinuclear reg>gg>ion of cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TPPP2 Gene

tubulin polymerization-promoting>gg> protein family member 2

Enables tubulin binding>gg> activity. Involved in reg>gg>ulation of flag>gg>ellated sperm motility. Located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PIP Gene

prolactin-induced protein

Enables Ig>gg>g>Gg> binding>gg> activity; aspartic-type endopeptidase activity; and identical protein binding>gg> activity. Involved in several processes, including>gg> detection of chemical stimulus involved in sensory perception of bitter taste; neg>gg>ative reg>gg>ulation of T cell apoptotic process; and proteolysis. Located in extracellular space and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PIR Gene

pirin (iron-binding>gg> nuclear protein)

This g>gg>ene encodes a member of the cupin superfamily. The encoded protein is an Fe(II)-containing>gg> nuclear protein expressed in all tissues of the body and concentrated within dot-like subnuclear structures. Interactions with nuclear factor I/CCAAT box transcription factor as well as B cell lymphoma 3-encoded oncoprotein sug>gg>g>gg>est the encoded protein may act as a transcriptional cofactor and be involved in the reg>gg>ulation of DNA transcription and replication. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]

RPL30P15 Gene

ribosomal protein L30 pseudog>gg>ene 15

RPL30P12 Gene

ribosomal protein L30 pseudog>gg>ene 12

RPL30P10 Gene

ribosomal protein L30 pseudog>gg>ene 10

RPL30P11 Gene

ribosomal protein L30 pseudog>gg>ene 11

RPL21P25 Gene

ribosomal protein L21 pseudog>gg>ene 25

LINC01363 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1363

RPL21P26 Gene

ribosomal protein L21 pseudog>gg>ene 26

LOC100289442 Gene

PHD fing>gg>er protein 5A pseudog>gg>ene

LOC105373384 Gene

MORF4 family-associated protein 1-like

AMN Gene

amnion associated transmembrane protein

The protein encoded by this g>gg>ene is a type I transmembrane protein. It is thoug>gg>ht to modulate bone morphog>gg>enetic protein (BMP) g>receptorg> function by serving>gg> as an accessory or cog>receptorg>, and thus facilitates or hinders BMP binding>gg>. It is known that the mouse AMN g>gg>ene is expressed in the extraembryonic visceral endoderm layer during>gg> g>gg>astrulation, but it is found to be mutated in amnionless mouse. The encoded protein has sequence similarity to short g>gg>astrulation (Sog>gg>) and procollag>gg>en IIA proteins in Drosophila. [provided by RefSeq, Jul 2008]

LOC647253 Gene

ring>gg> fing>gg>er protein 13 pseudog>gg>ene

LOC105373381 Gene

extracellular matrix protein 2-like

LOC728376 Gene

zinc fing>gg>er protein 430 pseudog>gg>ene

RBM26 Gene

RNA binding>gg> motif protein 26

Enables RNA binding>gg> activity. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RBM27 Gene

RNA binding>gg> motif protein 27

Enables RNA binding>gg> activity. Predicted to be located in cytoplasm and nuclear speck. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RBM24 Gene

RNA binding>gg> motif protein 24

Enables mRNA 3'-UTR AU-rich reg>gg>ion binding>gg> activity; mRNA CDS binding>gg> activity; and sequence-specific mRNA binding>gg> activity. Involved in several processes, including>gg> neg>gg>ative reg>gg>ulation of cytoplasmic translation; positive reg>gg>ulation of cell differentiation; and reg>gg>ulation of mRNA metabolic process. Located in cytosol and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RBM25 Gene

RNA binding>gg> motif protein 25

Enables mRNA binding>gg> activity. Involved in reg>gg>ulation of alternative mRNA splicing>gg>, via spliceosome and reg>gg>ulation of apoptotic process. Located in nuclear speck. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RBM22 Gene

RNA binding>gg> motif protein 22

This g>gg>ene encodes an RNA binding>gg> protein. The encoded protein may play a role in cell division and may be involved in pre-mRNA splicing>gg>. Related pseudog>gg>enes exist on chromosomes 6, 7, 9, 13, 16, 18, and X. [provided by RefSeq, Mar 2009]

RBM23 Gene

RNA binding>gg> motif protein 23

This g>gg>ene encodes a member of the U2AF-like family of RNA binding>gg> proteins. This protein interacts with some steroid nuclear g>receptorg>s, localizes to the promoter of a steroid- responsive g>gg>ene, and increases transcription of steroid-responsive transcriptional reporters in a hormone-dependent manner. It is also implicated in the steroid g>receptorg>-dependent reg>gg>ulation of alternative splicing>gg>. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

RBM20 Gene

RNA binding>gg> motif protein 20

This g>gg>ene encodes a protein that binds RNA and reg>gg>ulates splicing>gg>. Mutations in this g>gg>ene have been associated with familial dilated cardiomyopathy. [provided by RefSeq, Apr 2014]

RBM28 Gene

RNA binding>gg> motif protein 28

The protein encoded by this g>gg>ene is a specific nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP)complexes . It specifically associates with U1, U2, U4, U5, and U6 small nuclear RNAs (snRNAs), possibly coordinating>gg> their transition throug>gg>h the nucleolus. Mutation in this g>gg>ene causes alopecia, prog>gg>ressive neurolog>gg>ical defects, and endocrinopathy (ANE syndrome), a pleiotropic and clinically heterog>gg>eneous disorder. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Oct 2009]

RPL31P56 Gene

ribosomal protein L31 pseudog>gg>ene 56

LSMEM1 Gene

leucine-rich sing>gg>le-pass membrane protein 1

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LSMEM2 Gene

leucine-rich sing>gg>le-pass membrane protein 2

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL31P52 Gene

ribosomal protein L31 pseudog>gg>ene 52

FAM90A14P Gene

putative protein FAM90A14

FAM90A14 belong>gg>s to subfamily II of the primate-specific FAM90A g>gg>ene family, which orig>gg>inated from multiple duplications and rearrang>gg>ements (Bosch et al., 2007 [PubMed 17684299]). For backg>gg>round information on the FAM90A g>gg>ene family, as well as information on the evolution of FAM90A g>gg>enes, see FAM90A1 (MIM 613041).[supplied by OMIM, May 2010]

Zg>Gg>LP1 Gene

zinc fing>gg>er, g>Gg>ATA-like protein 1

Zg>Gg>LP1 encodes an evolutionary conserved transcriptional reg>gg>ulator with g>Gg>ATA-like zinc fing>gg>ers. In females, it is expressed in embryonic g>gg>erm cells and is essential for oog>gg>enic fate determination. It acts downstream of bone morphog>gg>enetic protein (BMP) and is involved in the reg>gg>ulation of g>gg>enes involved in RNA processing>gg>, transcription and chromatin modification, retrotransposon reg>gg>ulation, meiotic cell cycle, and oocyte development. In males it is not required for the g>gg>erm cell sex determination but is required by the spermatog>gg>onia for efficiently completing>gg> the meiotic prophase. [provided by RefSeq, Jul 2022]

FAM225A Gene

family with sequence similarity 225, member A (non-protein coding>gg>)

FAM225B Gene

family with sequence similarity 225, member B (non-protein coding>gg>)

LOC729770 Gene

wiskott-Aldrich syndrome protein homolog>gg>

LOC105376432 Gene

protein artemis-like

NIP7P1 Gene

NIP7, nucleolar pre-rRNA processing>gg> protein pseudog>gg>ene 1

MLXIPL Gene

MLX interacting>gg> protein-like

This g>gg>ene encodes a basic helix-loop-helix leucine zipper transcription factor of the Myc/Max/Mad superfamily. This protein forms a heterodimeric complex and binds and activates, in a g>gg>lucose-dependent manner, carbohydrate response element (ChoRE) motifs in the promoters of trig>gg>lyceride synthesis g>gg>enes. The g>gg>ene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contig>gg>uous g>gg>enes at chromosome 7q11.23. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Dec 2015]

LOC100509620 Gene

putative aquaporin-7-like protein 3

Predicted to enable g>gg>lycerol channel activity; urea transmembrane transporter activity; and water channel activity. Predicted to be involved in g>gg>lycerol transmembrane transport and water transport. Predicted to be located in membrane. Predicted to be active in basolateral plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TAPBPL Gene

TAP binding>gg> protein-like

Tapasin, or TAPBP (MIM 601962), is a member of the variable-constant Ig>gg> superfamily that links major histocompatibility complex (MHC) class I molecules to the transporter associated with antig>gg>en processing>gg> (TAP; see MIM 170260) in the endoplasmic reticulum (ER). The TAPBP g>gg>ene is located near the MHC complex on chromosome 6p21.3. TAPBPL is a member of the Ig>gg> superfamily that is localized on chromosome 12p13.3, a reg>gg>ion somewhat paralog>gg>ous to the MHC.[supplied by OMIM, Mar 2008]

LOC102725078 Gene

ankyrin repeat domain-containing>gg> protein 20A2-like

LOC102725070 Gene

coiled-coil domain-containing>gg> protein 29-like

TSPY4 Gene

testis specific protein, Y-linked 4

Predicted to enable chromatin binding>gg> activity and histone binding>gg> activity. Predicted to be involved in several processes, including>gg> g>gg>onadal mesoderm development; nucleosome assembly; and spermatog>gg>enesis. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TSPY3 Gene

testis specific protein, Y-linked 3

Predicted to enable chromatin binding>gg> activity and histone binding>gg> activity. Predicted to be involved in sex differentiation. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC101927751 Gene

E3 ubiquitin-protein lig>gg>ase RINg>Gg>1-like

RPL35AP28 Gene

ribosomal protein L35a pseudog>gg>ene 28

RPL35AP29 Gene

ribosomal protein L35a pseudog>gg>ene 29

LOC100507561 Gene

ankyrin repeat domain-containing>gg> protein 33B-like

RPL35AP20 Gene

ribosomal protein L35a pseudog>gg>ene 20

RPL35AP21 Gene

ribosomal protein L35a pseudog>gg>ene 21

RPL35AP26 Gene

ribosomal protein L35a pseudog>gg>ene 26

RPL35AP27 Gene

ribosomal protein L35a pseudog>gg>ene 27

RPL35AP24 Gene

ribosomal protein L35a pseudog>gg>ene 24

PIDD1 Gene

p53-induced death domain protein 1

The protein encoded by this g>gg>ene contains a leucine-rich repeat and a death domain. This protein has been shown to interact with other death domain proteins, such as Fas (TNFRSF6)-associated via death domain (FADD) and MAP-kinase activating>gg> death domain-containing>gg> protein (MADD), and thus may function as an adaptor protein in cell death-related sig>gg>naling>gg> processes. The expression of the mouse counterpart of this g>gg>ene has been found to be positively reg>gg>ulated by the tumor suppressor p53 and to induce cell apoptosis in response to DNA damag>gg>e, which sug>gg>g>gg>ests a role for this g>gg>ene as an effector of p53-dependent apoptosis. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Aug>gg> 2010]

LOC105379472 Gene

serine/arg>gg>inine repetitive matrix protein 3-like

MRPS10P1 Gene

mitochondrial ribosomal protein S10 pseudog>gg>ene 1

MRPS10P2 Gene

mitochondrial ribosomal protein S10 pseudog>gg>ene 2

MRPS10P5 Gene

mitochondrial ribosomal protein S10 pseudog>gg>ene 5

LOC105379786 Gene

putative exonuclease g>Gg>OR-like protein

LINC00526 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 526

LINC00527 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 527

LINC00524 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 524

LINC00525 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 525

LINC00523 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 523

LINC00520 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 520

LINC00521 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 521

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00528 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 528

LINC00529 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 529

BTRCP1 Gene

beta-transducin repeat containing>gg> E3 ubiquitin protein lig>gg>ase pseudog>gg>ene 1

RPS2P9 Gene

ribosomal protein S2 pseudog>gg>ene 9

FLJ45248 Gene

FLJ45248 protein

RPS4Y2 Gene

ribosomal protein S4, Y-linked 2

The protein encoded by this g>gg>ene is a ribosomal protein that is hig>gg>hly similar to RPS4Y1. This g>gg>ene is located in the male-specific reg>gg>ion of the Y chromosome. [provided by RefSeq, Aug>gg> 2012]

RPS4Y1 Gene

ribosomal protein S4, Y-linked 1

Cytoplasmic ribosomes, org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes ribosomal protein S4, a component of the 40S subunit. Ribosomal protein S4 is the only ribosomal protein known to be encoded by more than one g>gg>ene, namely this g>gg>ene and ribosomal protein S4, X-linked (RPS4X). The 2 isoforms encoded by these g>gg>enes are not identical, but are functionally equivalent. Ribosomal protein S4 belong>gg>s to the S4E family of ribosomal proteins. It has been sug>gg>g>gg>ested that haploinsufficiency of the ribosomal protein S4 g>gg>enes plays a role in Turner syndrome; however, this hypothesis is controversial. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

FAM220BP Gene

Putative SIPAR-like protein C9orf51

Predicted to enable STAT family protein binding>gg> activity. Predicted to be involved in neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RNF19BPX Gene

ring>gg> fing>gg>er protein 19B pseudog>gg>ene, X-linked

RNF19BPY Gene

ring>gg> fing>gg>er protein 19B pseudog>gg>ene, Y-linked

LOC102723451 Gene

uncharacterized protein C21orf140

LOC102723456 Gene

classical arabinog>gg>alactan protein 4-like

TRAK2 Gene

trafficking>gg> protein, kinesin binding>gg> 2

Predicted to enable g>Gg>ABA g>receptorg> binding>gg> activity and myosin binding>gg> activity. Predicted to be involved in several processes, including>gg> mitochondrion distribution; org>gg>anelle transport along>gg> microtubule; and protein O-linked g>gg>lycosylation. Predicted to be located in cytoplasm; nucleus; and plasma membrane. Predicted to be active in cytoplasmic vesicle; dendrite; and mitochondrion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRAK1 Gene

trafficking>gg> protein, kinesin binding>gg> 1

Predicted to enable g>Gg>ABA g>receptorg> binding>gg> activity and myosin binding>gg> activity. Involved in endosome to lysosome transport. Located in early endosome and mitochondrion. Implicated in developmental and epileptic encephalopathy 68. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC01499 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1499

LOC101928344 Gene

protein g>Gg>VQW1-like

RPL9P24 Gene

ribosomal protein L9 pseudog>gg>ene 24

RPL9P25 Gene

ribosomal protein L9 pseudog>gg>ene 25

RPL9P26 Gene

ribosomal protein L9 pseudog>gg>ene 26

CFAP69 Gene

cilia and flag>gg>ella associated protein 69

Acts upstream of or within sperm axoneme assembly. Located in cytoplasm and sperm midpiece. Implicated in spermatog>gg>enic failure 24. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL9P27 Gene

ribosomal protein L9 pseudog>gg>ene 27

CFAP61 Gene

cilia and flag>gg>ella associated protein 61

Involved in sperm flag>gg>ellum assembly. Predicted to be located in radial spoke stalk and sperm flag>gg>ellum. Implicated in spermatog>gg>enic failure 84. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

BSPH1 Gene

binder of sperm protein homolog>gg> 1

Predicted to enable heparin binding>gg> activity. Predicted to be involved in sperm capacitation. Predicted to be located in extracellular reg>gg>ion. Predicted to be active in cell surface. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL23AP66 Gene

ribosomal protein L23a pseudog>gg>ene 66

RPL23AP65 Gene

ribosomal protein L23a pseudog>gg>ene 65

RBMS1P1 Gene

RNA binding>gg> motif, sing>gg>le stranded interacting>gg> protein 1 pseudog>gg>ene 1

RPL39P Gene

ribosomal protein L39 pseudog>gg>ene

RPS13P8 Gene

ribosomal protein S13 pseudog>gg>ene 8

RPS13P2 Gene

ribosomal protein S13 pseudog>gg>ene 2

BASP1P1 Gene

brain abundant, membrane attached sig>gg>nal protein 1 pseudog>gg>ene 1

RPS13P6 Gene

ribosomal protein S13 pseudog>gg>ene 6

RPS13P7 Gene

ribosomal protein S13 pseudog>gg>ene 7

RPS13P4 Gene

ribosomal protein S13 pseudog>gg>ene 4

RPS13P5 Gene

ribosomal protein S13 pseudog>gg>ene 5

UHRF1BP1L Gene

UHRF1 binding>gg> protein 1-like

Enables g>Gg>ARP complex binding>gg> activity; lipid transfer activity; and protein homodimerization activity. Involved in early endosome to g>Gg>olg>gg>i transport and intermembrane lipid transfer. Located in cytosol and early endosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100419752 Gene

zinc fing>gg>er protein 251 pseudog>gg>ene

TMEM178B Gene

transmembrane protein 178B

Predicted to be active in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SNCAIP Gene

synuclein, alpha interacting>gg> protein

This g>gg>ene encodes a protein containing>gg> several protein-protein interaction domains, including>gg> ankyrin-like repeats, a coiled-coil domain, and an ATP/g>Gg>TP-binding>gg> motif. The encoded protein interacts with alpha-synuclein in neuronal tissue and may play a role in the formation of cytoplasmic inclusions and neurodeg>gg>eneration. A mutation in this g>gg>ene has been associated with Parkinson's disease. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Apr 2015]

C1QBP Gene

complement component 1, q subcomponent binding>gg> protein

The human complement subcomponent C1q associates with C1r and C1s in order to yield the first component of the serum complement system. The protein encoded by this g>gg>ene is known to bind to the g>gg>lobular heads of C1q molecules and inhibit C1 activation. This protein has also been identified as the p32 subunit of pre-mRNA splicing>gg> factor SF2, as well as a hyaluronic acid-binding>gg> protein. [provided by RefSeq, Jul 2008]

LOC100131216 Gene

transmembrane protein 38B pseudog>gg>ene

UVSSA Gene

UV-stimulated scaffold protein A

The protein encoded by this g>gg>ene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with several members of the nucleotide excision repair complex, and is thoug>gg>ht to be involved in the transcription-coupled nucleotide excision repair (TC-NER) pathway to help remove lesions in the DNA that block transcription. Defects in this g>gg>ene can cause UV-sensitive syndrome 3. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Dec 2015]

SPANXA1 Gene

sperm protein associated with the nucleus, X-linked, family member A1

Temporally reg>gg>ulated transcription and translation of several testis-specific g>gg>enes is required to initiate the series of molecular and morpholog>gg>ical chang>gg>es in the male g>gg>erm cell lineag>gg>e necessary for the formation of mature spermatozoa. This g>gg>ene is a member of the SPANX family of cancer/testis-associated g>gg>enes, which are located in a cluster on chromosome X. The SPANX g>gg>enes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular g>gg>ene maps to chromosome X in a head-to-head orientation with SPANX family member A2, which appears to be a duplication of the A1 locus. The protein encoded by this g>gg>ene targ>gg>ets to the nucleus where it associates with nuclear vacuoles and the redundant nuclear envelope. Based on its association with these poorly characterized reg>gg>ions of the sperm nucleus, this protein provides a biochemical marker to study unique structures in spermatazoa while attempting>gg> to further define its role in spermatog>gg>enesis. [provided by RefSeq, Jul 2008]

CH17-340M24.3 Gene

uncharacterized protein BC009467

PMAIP1 Gene

phorbol-12-myristate-13-acetate-induced protein 1

This g>gg>ene belong>gg>s to a pro-apoptotic subfamily within the BCL-2 protein family, referred to as the BCL-2 homolog>gg>y domain 3 (BH3)-only subfamily, which determine whether a cell commits to apoptosis. In response to death-inducing>gg> stimuli, BH3-only members inhibit the anti-apoptotic BCL-2 family members, which under steady-state conditions keep the multi-BH domain proteins BAX and BAK, in an inactive state. [provided by RefSeq, Aug>gg> 2020]

PPP6CP Gene

protein phosphatase 6, catalytic subunit pseudog>gg>ene

LINC00200 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 200

LOC100419447 Gene

CSRP2 binding>gg> protein pseudog>gg>ene

LINC00207 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 207

LOC100422622 Gene

TAF10 RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor, 30kDa pseudog>gg>ene

LOC100422627 Gene

TAF4b RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor, 105kDa pseudog>gg>ene

RPS2P28 Gene

ribosomal protein S2 pseudog>gg>ene 28

ZNF273 Gene

zinc fing>gg>er protein 273

This g>gg>ene is a member of the krueppel C2H2-type zinc-fing>gg>er protein family and encodes a protein with 13 C2H2-type zinc fing>gg>ers and a KRAB domain. This nuclear protein is involved in transcriptional reg>gg>ulation. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2008]

ZNF277 Gene

zinc fing>gg>er protein 277

Predicted to enable RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity and metal ion binding>gg> activity. Predicted to act upstream of or within cellular response to hydrog>gg>en peroxide and reg>gg>ulation of cellular senescence. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF276 Gene

zinc fing>gg>er protein 276

Enables sequence-specific double-stranded DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Located in kinetochore. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF275 Gene

zinc fing>gg>er protein 275

This g>gg>ene encodes a zinc fing>gg>er protein that appears to be conserved in eutheria. Its function has not yet been established. [provided by RefSeq, Jul 2010]

ZNF274 Gene

zinc fing>gg>er protein 274

This g>gg>ene encodes a zinc fing>gg>er protein containing>gg> five C2H2-type zinc fing>gg>er domains, one or two Kruppel-associated box A (KRAB A) domains, and a leucine-rich domain. The encoded protein has been sug>gg>g>gg>ested to be a transcriptional repressor. It localizes predominantly to the nucleolus. Alternatively spliced transcript variants encoding>gg> different isoforms exist. These variants utilize alternative polyadenylation sig>gg>nals. [provided by RefSeq, Jul 2008]

g>Gg>ACAT3 Gene

g>gg>astric cancer associated transcript 3 (non-protein coding>gg>)

MSBP2 Gene

minisatellite binding>gg> protein 2, 77kDa

MSBP1 Gene

minisatellite binding>gg> protein 1

HNRNPDP1 Gene

heterog>gg>eneous nuclear ribonucleoprotein D (AU-rich element RNA binding>gg> protein 1, 37kDa) pseudog>gg>ene 1

HERC1 Gene

HECT and RLD domain containing>gg> E3 ubiquitin protein lig>gg>ase family member 1

This g>gg>en encodes a member of the HERC protein family. This protein stimulates g>gg>uanine nucleotide exchang>gg>e on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012]

HERC3 Gene

HECT and RLD domain containing>gg> E3 ubiquitin protein lig>gg>ase 3

This g>gg>ene encodes a member the HERC ubiquitin lig>gg>ase family. The encoded protein is located in the cytosol and binds ubiquitin via a HECT domain. Mutations in this g>gg>ene have been associated with colorectal and g>gg>astric carcinomas. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Oct 2012]

HERC2 Gene

HECT and RLD domain containing>gg> E3 ubiquitin protein lig>gg>ase 2

This g>gg>ene belong>gg>s to the HERC g>gg>ene family that encodes a g>gg>roup of unusually larg>gg>e proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal reg>gg>ion showing>gg> homolog>gg>y to the cell cycle reg>gg>ulator RCC1 and a C-terminal HECT (homolog>gg>ous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein lig>gg>ases. g>Gg>enetic variations in this g>gg>ene are associated with skin/hair/eye pig>gg>mentation variability. Multiple pseudog>gg>enes of this g>gg>ene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]

HERC5 Gene

HECT and RLD domain containing>gg> E3 ubiquitin protein lig>gg>ase 5

This g>gg>ene is a member of the HERC family of ubiquitin lig>gg>ases and encodes a protein with a HECT domain and five RCC1 repeats. Pro-inflammatory cytokines upreg>gg>ulate expression of this g>gg>ene in endothelial cells. The protein localizes to the cytoplasm and perinuclear reg>gg>ion and functions as an interferon-induced E3 protein lig>gg>ase that mediates ISg>Gg>ylation of protein targ>gg>ets. The protein also acts as a modulator of the antiviral immune response. The g>gg>ene lies in a cluster of HERC family g>gg>enes on chromosome 4. [provided by RefSeq, Aug>gg> 2021]

HERC4 Gene

HECT and RLD domain containing>gg> E3 ubiquitin protein lig>gg>ase 4

HERC4 belong>gg>s to the HERC family of ubiquitin lig>gg>ases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring>gg> it to a substrate, and the RLD is predicted to act as a g>gg>uanine nucleotide exchang>gg>e factor for small g>Gg> proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008]

HERC6 Gene

HECT and RLD domain containing>gg> E3 ubiquitin protein lig>gg>ase family member 6

HERC6 belong>gg>s to the HERC family of ubiquitin lig>gg>ases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring>gg> it to a substrate, and the RLD is predicted to act as a g>gg>uanine nucleotide exchang>gg>e factor for small g>Gg> proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008]

LOC102724235 Gene

protein FAM231D-like

LOC102724237 Gene

putative uncharacterized protein UNQ6494/PRO21346

LOC102724236 Gene

putative uncharacterized protein FLJ46235

LINC00052 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 52

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100652813 Gene

zinc fing>gg>er protein 138 pseudog>gg>ene

LOC642515 Gene

proline-rich transmembrane protein 1-like

Predicted to be active in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OSBP2 Gene

oxysterol binding>gg> protein 2

The protein encoded by this g>gg>ene contains a pleckstrin homolog>gg>y (PH) domain and an oxysterol-binding>gg> reg>gg>ion. It binds oxysterols such as 7-ketocholesterol and may inhibit their cytotoxicity. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Sep 2013]

MAP2 Gene

microtubule-associated protein 2

This g>gg>ene encodes a protein that belong>gg>s to the microtubule-associated protein family. The proteins of this family are thoug>gg>ht to be involved in microtubule assembly, which is an essential step in neurog>gg>enesis. The products of similar g>gg>enes in rat and mouse are neuron-specific cytoskeletal proteins that are enriched in dentrites, implicating>gg> a role in determining>gg> and stabilizing>gg> dentritic shape during>gg> neuron development. A number of alternatively spliced variants encoding>gg> distinct isoforms have been described. [provided by RefSeq, Jan 2010]

MAP6 Gene

microtubule-associated protein 6

This g>gg>ene encodes a microtubule-associated protein. The encoded protein is a calmodulin-binding>gg> and calmodulin-reg>gg>ulated protein that is involved in microtubule stabilization. Two transcript variants encoding>gg> distinct isoforms have been identified for this g>gg>ene. [provided by RefSeq, Jul 2008]

MAP7 Gene

microtubule-associated protein 7

The product of this g>gg>ene is a microtubule-associated protein that is predominantly expressed in cells of epithelial orig>gg>in. Microtubule-associated proteins are thoug>gg>ht to be involved in microtubule dynamics, which is essential for cell polarization and differentiation. This protein has been shown to be able to stabilize microtubules, and may serve to modulate microtubule functions. Studies of the related mouse protein also sug>gg>g>gg>ested an essential role in microtubule function required for spermatog>gg>enesis. Multiple alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Oct 2010]

MAP4 Gene

microtubule-associated protein 4

The protein encoded by this g>gg>ene is a major non-neuronal microtubule-associated protein. This protein contains a domain similar to the microtubule-binding>gg> domains of neuronal microtubule-associated protein (MAP2) and microtubule-associated protein tau (MAPT/TAU). This protein promotes microtubule assembly, and has been shown to counteract destabilization of interphase microtubule catastrophe promotion. Cyclin B was found to interact with this protein, which targ>gg>ets cell division cycle 2 (CDC2) kinase to microtubules. The phosphorylation of this protein affects microtubule properties and cell cycle prog>gg>ression. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Aug>gg> 2008]

EBPL Gene

emopamil binding>gg> protein-like

Predicted to enable cholestenol delta-isomerase activity. Predicted to be involved in sterol metabolic process. Located in endoplasmic reticulum. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

YY1AP1 Gene

YY1 associated protein 1

Predicted to enable transcription coreg>gg>ulator activity. Involved in cell differentiation; cell population proliferation; and reg>gg>ulation of cell cycle. Located in Ino80 complex; fibrillar center; and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MAPT Gene

microtubule-associated protein tau

This g>gg>ene encodes the microtubule-associated protein tau (MAPT) whose transcript underg>gg>oes complex, reg>gg>ulated alternative splicing>gg>, g>gg>iving>gg> rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending>gg> on stag>gg>e of neuronal maturation and neuron type. MAPT g>gg>ene mutations have been associated with several neurodeg>gg>enerative disorders such as Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal deg>gg>eneration and prog>gg>ressive supranuclear palsy. [provided by RefSeq, Jul 2008]

LOC729815 Gene

keratin-associated protein 5-1

LINC00165 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 165

LOC100419830 Gene

zinc fing>gg>er protein 337 pseudog>gg>ene

LOC100419834 Gene

zinc fing>gg>er protein 134 pseudog>gg>ene

LOC100419836 Gene

zinc fing>gg>er protein 347 pseudog>gg>ene

LOC100419838 Gene

zinc fing>gg>er protein 860 pseudog>gg>ene

LOC100419839 Gene

zinc fing>gg>er protein 300 pseudog>gg>ene

LINC01252 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1252

LINC01256 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1256

LOC101060632 Gene

putative ankyrin repeat domain-containing>gg> protein 20A12 pseudog>gg>ene

LINC01254 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1254

LINC01258 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1258

ZNF815P Gene

zinc fing>gg>er protein 815, pseudog>gg>ene

NHCP1 Gene

non-histone chromosome protein 1

LINC01590 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1590

LINC01591 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1591

LINC01592 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1592

LINC01594 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1594

LINC01599 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1599

LOC727874 Gene

WW domain binding>gg> protein 11 pseudog>gg>ene

LINC01046 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1046

LINC01047 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1047

LINC01044 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1044

LINC01043 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1043

LINC01040 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1040

LOC644006 Gene

ring>gg> fing>gg>er protein 4 pseudog>gg>ene

LINC01049 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1049

CD46P1 Gene

CD46 molecule, complement reg>gg>ulatory protein pseudog>gg>ene 1

LENEP Gene

lens epithelial protein

The ocular lens is a tissue of epithelial orig>gg>in and devoid of blood vessels and nerves. Cells of the lens epithelium are responsible for the g>gg>rowth and maintenance of the lens throug>gg>h mitosis, protein synthesis, and active transport of ions and metabolites across the lens capsule. Lens epithelial protein is expressed exclusively in lens epithelial cells and may play a role in cell differentiation. [provided by RefSeq, Jul 2008]

XBP1 Gene

X-box binding>gg> protein 1

This g>gg>ene encodes a transcription factor that reg>gg>ulates MHC class II g>gg>enes by binding>gg> to a promoter element referred to as an X box. This g>gg>ene product is a bZIP protein, which was also identified as a cellular transcription factor that binds to an enhancer in the promoter of the T cell leukemia virus type 1 promoter. It may increase expression of viral proteins by acting>gg> as the DNA binding>gg> partner of a viral transactivator. It has been found that upon accumulation of unfolded proteins in the endoplasmic reticulum (ER), the mRNA of this g>gg>ene is processed to an active form by an unconventional splicing>gg> mechanism that is mediated by the endonuclease inositol-requiring>gg> enzyme 1 (IRE1). The resulting>gg> loss of 26 nt from the spliced mRNA causes a frame-shift and an isoform XBP1(S), which is the functionally active transcription factor. The isoform encoded by the unspliced mRNA, XBP1(U), is constitutively expressed, and thoug>gg>ht to function as a neg>gg>ative feedback reg>gg>ulator of XBP1(S), which shuts off transcription of targ>gg>et g>gg>enes during>gg> the recovery phase of ER stress. A pseudog>gg>ene of XBP1 has been identified and localized to chromosome 5. [provided by RefSeq, Jul 2008]

LOC100420048 Gene

poly(rC) binding>gg> protein 1 pseudog>gg>ene

LOC105378579 Gene

serine/arg>gg>inine repetitive matrix protein 1-like

RPL36AP49 Gene

ribosomal protein L36a pseudog>gg>ene 49

AARD Gene

alanine and arg>gg>inine rich domain containing>gg> protein

Predicted to act upstream of or within response to testosterone. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00311 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 311

LINC00310 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 310

LINC00313 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 313

LINC00312 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 312

This g>gg>ene produces an intronless transcript that is thoug>gg>ht to function as a tumor suppressor. This transcript is downreg>gg>ulated in nasopharyng>gg>eal carcinoma and is a neg>gg>ative reg>gg>ulator of estrog>gg>en g>receptorg> sig>gg>naling>gg>. A common polymorphism in this transcript allows the production of a 94 aa open reading>gg> frame in some individuals, which may interact directly with estrog>gg>en g>receptorg> 1 (PMID:15474036). This open reading>gg> frame does not exist on the reference g>gg>enome haplotype, which is hypothesized to function throug>gg>h a non-coding>gg> RNA product. [provided by RefSeq, Mar 2017]

LINC00315 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 315

LINC00314 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 314

LINC00316 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 316

PABPN1L Gene

poly(A) binding>gg> protein, nuclear 1-like (cytoplasmic)

Predicted to enable poly(A) binding>gg> activity. Predicted to be involved in nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay. Predicted to act upstream of or within maternal-to-zyg>gg>otic transition of g>gg>ene expression; neg>gg>ative reg>gg>ulation of SCF-dependent proteasomal ubiquitin-dependent catabolic process; and neg>gg>ative reg>gg>ulation of protein ubiquitination. Predicted to be located in cytoplasm. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SIRPg>Gg> Gene

sig>gg>nal-reg>gg>ulatory protein g>gg>amma

The protein encoded by this g>gg>ene is a member of the sig>gg>nal-reg>gg>ulatory protein (SIRP) family, and also belong>gg>s to the immunog>gg>lobulin superfamily. SIRP family members are g>receptorg>-type transmembrane g>gg>lycoproteins known to be involved in the neg>gg>ative reg>gg>ulation of g>receptorg> tyrosine kinase-coupled sig>gg>naling>gg> processes. Alternatively spliced transcript variants encoding>gg> different isoforms have been described. [provided by RefSeq, Jul 2008]

SIRPD Gene

sig>gg>nal-reg>gg>ulatory protein delta

Predicted to be located in extracellular reg>gg>ion. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SIRPA Gene

sig>gg>nal-reg>gg>ulatory protein alpha

The protein encoded by this g>gg>ene is a member of the sig>gg>nal-reg>gg>ulatory-protein (SIRP) family, and also belong>gg>s to the immunog>gg>lobulin superfamily. SIRP family members are g>receptorg>-type transmembrane g>gg>lycoproteins known to be involved in the neg>gg>ative reg>gg>ulation of g>receptorg> tyrosine kinase-coupled sig>gg>naling>gg> processes. This protein can be phosphorylated by tyrosine kinases. The phospho-tyrosine residues of this PTP have been shown to recruit SH2 domain containing>gg> tyrosine phosphatases (PTP), and serve as substrates of PTPs. This protein was found to participate in sig>gg>nal transduction mediated by various g>gg>rowth factor g>receptorg>s. CD47 has been demonstrated to be a lig>gg>and for this g>receptorg> protein. This g>gg>ene and its product share very hig>gg>h similarity with several other members of the SIRP family. These related g>gg>enes are located in close proximity to each other on chromosome 20p13. Multiple alternatively spliced transcript variants have been determined for this g>gg>ene. [provided by RefSeq, Jul 2008]

TRAPPC9 Gene

trafficking>gg> protein particle complex 9

This g>gg>ene encodes a protein that likely plays a role in NF-kappa-B sig>gg>naling>gg>. Mutations in this g>gg>ene have been associated with autosomal-recessive cog>gg>nitive disability. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]

TRAPPC8 Gene

trafficking>gg> protein particle complex 8

Involved in g>Gg>olg>gg>i org>gg>anization and collag>gg>en biosynthetic process. Part of TRAPP complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TSPY17P Gene

testis specific protein, Y-linked 17, pseudog>gg>ene

TRAPPC1 Gene

trafficking>gg> protein particle complex 1

This g>gg>ene product plays a role in vesicular transport of proteins to the g>Gg>olg>gg>i apparatus from the endoplasmic reticulum. The encoded protein is a component of the multisubunit transport protein particle (TRAPP) complex. Alternative splicing>gg> results in multiple transcript variants.[provided by RefSeq, Oct 2009]

TRAPPC3 Gene

trafficking>gg> protein particle complex 3

This g>gg>ene encodes a component of the trafficking>gg> protein particle complex, which tethers transport vesicles to the cis-g>Gg>olg>gg>i membrane. The encoded protein participates in the reg>gg>ulation of transport from the endoplasmic reticulum to the g>Gg>olg>gg>i apparatus. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Aug>gg> 2012]

TRAPPC2 Gene

trafficking>gg> protein particle complex 2

The protein encoded by this g>gg>ene is thoug>gg>ht to be part of a larg>gg>e multi-subunit complex involved in the targ>gg>eting>gg> and fusion of endoplasmic reticulum-to-g>Gg>olg>gg>i transport vesicles with their acceptor compartment. In addition, the encoded protein can bind c-myc promoter-binding>gg> protein 1 and block its transcriptional repression capability. Mutations in this g>gg>ene are a cause of spondyloepiphyseal dysplasia tarda (SEDT). A processed pseudog>gg>ene of this g>gg>ene is located on chromosome 19, and other pseudog>gg>enes are found on chromosomes 8 and Y. Alternatively spliced transcript variants have been found for this g>gg>ene. [provided by RefSeq, Mar 2010]

TRAPPC5 Gene

trafficking>gg> protein particle complex 5

Predicted to be involved in endoplasmic reticulum to g>Gg>olg>gg>i vesicle-mediated transport. Part of TRAPP complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRAPPC4 Gene

trafficking>gg> protein particle complex 4

Involved in autophag>gg>y and endoplasmic reticulum to g>Gg>olg>gg>i vesicle-mediated transport. Part of TRAPP complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

WASH4P Gene

WAS protein family homolog>gg> 4 pseudog>gg>ene

Predicted to enable alpha-tubulin binding>gg> activity and g>gg>amma-tubulin binding>gg> activity. Predicted to be involved in Arp2/3 complex-mediated actin nucleation; endosomal transport; and exocytosis. Predicted to be located in cytosol and recycling>gg> endosome membrane. Predicted to be part of WASH complex. Predicted to be active in early endosome and recycling>gg> endosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PABPC1P9 Gene

poly(A) binding>gg> protein, cytoplasmic 1 pseudog>gg>ene 9

PABPC1P8 Gene

poly(A) binding>gg> protein, cytoplasmic 1 pseudog>gg>ene 8

PABPC1P7 Gene

poly(A) binding>gg> protein, cytoplasmic 1 pseudog>gg>ene 7

PABPC1P6 Gene

poly(A) binding>gg> protein, cytoplasmic 1 pseudog>gg>ene 6

PABPC1P5 Gene

poly(A) binding>gg> protein, cytoplasmic 1 pseudog>gg>ene 5

PABPC1P4 Gene

poly(A) binding>gg> protein, cytoplasmic 1 pseudog>gg>ene 4

PABPC1P3 Gene

poly(A) binding>gg> protein, cytoplasmic 1 pseudog>gg>ene 3

PABPC1P2 Gene

poly(A) binding>gg> protein, cytoplasmic 1 pseudog>gg>ene 2

PABPC1P1 Gene

poly(A) binding>gg> protein, cytoplasmic 1 pseudog>gg>ene 1

LOC100131479 Gene

zinc fing>gg>er protein 430 pseudog>gg>ene

DKFZP761C1711 Gene

uncharacterized protein DKFZp761C1711

LOC100533901 Gene

ribosomal protein L3 pseudog>gg>ene

g>Gg>DAP2 Gene

g>gg>ang>gg>lioside induced differentiation associated protein 2

Predicted to act upstream of or within response to retinoic acid. Located in lysosomal membrane. Implicated in autosomal recessive spinocerebellar ataxia 27. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>DAP1 Gene

g>gg>ang>gg>lioside induced differentiation associated protein 1

This g>gg>ene encodes a member of the g>gg>ang>gg>lioside-induced differentiation-associated protein family, which may play a role in a sig>gg>nal transduction pathway during>gg> neuronal development. Mutations in this g>gg>ene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding>gg> different isoforms and a noncoding>gg> variant have been identified for this g>gg>ene. [provided by RefSeq, Feb 2012]

LOC100533904 Gene

ribosomal protein L3 pseudog>gg>ene

TUg>Gg>1 Gene

taurine up-reg>gg>ulated 1 (non-protein coding>gg>)

Predicted to enable cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to act upstream of or within several processes, including>gg> mitochondrion org>gg>anization; photog>receptorg> cell development; and spermatog>gg>enesis. Predicted to be located in mitochondrial membrane and nuclear membrane. Predicted to be active in nucleus. Biomarker of Hunting>gg>ton's disease. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>LTP Gene

g>gg>lycolipid transfer protein

The protein encoded by this g>gg>ene is similar to bovine and porcine proteins which accelerate transfer of certain g>gg>lycosphing>gg>olipids and g>gg>lycerog>gg>lycolipids between membranes. It is thoug>gg>ht to be a cytoplasmic protein. [provided by RefSeq, Jul 2008]

RPL21P135 Gene

ribosomal protein L21 pseudog>gg>ene 135

LOC390705 Gene

protein phosphatase 2, reg>gg>ulatory subunit B'', beta pseudog>gg>ene

LOC100130044 Gene

cilia and flag>gg>ella associated protein 69 pseudog>gg>ene

LOC100130049 Gene

ribosomal L1 domain-containing>gg> protein 1-like

CFAP47 Gene

cilia and flag>gg>ella associated protein 47

While this g>gg>ene is well-supported by transcript data, no functional information on its protein product is currently available. [provided by RefSeq, Dec 2009]

CFAP44 Gene

cilia and flag>gg>ella associated protein 44

Enables peptidase activity. Involved in sperm axoneme assembly. Acts upstream of or within microtubule cytoskeleton org>gg>anization. Predicted to be located in cytoplasm; cytoskeleton; and motile cilium. Implicated in spermatog>gg>enic failure 20. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CRISPLD2 Gene

cysteine-rich secretory protein LCCL domain containing>gg> 2

Predicted to enable g>gg>lycosaminog>gg>lycan binding>gg> activity. Involved in face morphog>gg>enesis. Located in transport vesicle. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CRISPLD1 Gene

cysteine-rich secretory protein LCCL domain containing>gg> 1

Involved in face morphog>gg>enesis. Located in extracellular exosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINCMD1 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA, muscle differentiation 1

ZNF841 Gene

zinc fing>gg>er protein 841

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF843 Gene

zinc fing>gg>er protein 843

Predicted to enable metal ion binding>gg> activity. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF844 Gene

zinc fing>gg>er protein 844

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF846 Gene

zinc fing>gg>er protein 846

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105376746 Gene

formin-like protein 5

ZNF592 Gene

zinc fing>gg>er protein 592

This g>gg>ene is thoug>gg>ht to play a role in a complex developmental pathway and the reg>gg>ulation of g>gg>enes involved in cerebellar development. Mutations in this g>gg>ene have been associated with autosomal recessive spinocerebellar ataxia. [provided by RefSeq, Jan 2011]

ZNF593 Gene

zinc fing>gg>er protein 593

Enables preribosome binding>gg> activity and zinc ion binding>gg> activity. Involved in positive reg>gg>ulation of transcription by RNA polymerase II. Located in nucleolus and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF596 Gene

zinc fing>gg>er protein 596

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF595 Gene

zinc fing>gg>er protein 595

This g>gg>ene encodes a protein belong>gg>ing>gg> to the Cys2His2 zinc fing>gg>er protein family, whose members function as transcription factors that can reg>gg>ulate a broad variety of developmental and cellular processes. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants. [provided by RefSeq, Oct 2013]

ZNF598 Gene

zinc fing>gg>er protein 598

Zinc-fing>gg>er proteins bind nucleic acids and play important roles in various cellular functions, including>gg> cell proliferation, differentiation, and apoptosis. This protein and g>Gg>rb10-interacting>gg> g>Gg>YF protein 2 have been identified as a components of the mammalian 4EHP (m4EHP) complex. The complex is thoug>gg>ht to function as a translation repressor in embryonic development. [provided by RefSeq, Oct 2012]

ZNF599 Gene

zinc fing>gg>er protein 599

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZFR2 Gene

zinc fing>gg>er RNA binding>gg> protein 2

Predicted to enable double-stranded RNA binding>gg> activity and sing>gg>le-stranded RNA binding>gg> activity. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL29P20 Gene

ribosomal protein L29 pseudog>gg>ene 20

RPL29P23 Gene

ribosomal protein L29 pseudog>gg>ene 23

FBXL20 Gene

F-box and leucine-rich repeat protein 20

Members of the F-box protein family, such as FBXL20, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin lig>gg>ases. F-box proteins interact with SKP1 throug>gg>h the F box, and they interact with ubiquitination targ>gg>ets throug>gg>h other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXL21 Gene

F-box and leucine-rich repeat protein 21 (g>gg>ene/pseudog>gg>ene)

This locus represents a transcribed pseudog>gg>ene that is related to g>gg>enes encoding>gg> members of the F-box family of proteins. [provided by RefSeq, Nov 2017]

FBXL22 Gene

F-box and leucine-rich repeat protein 22

This g>gg>ene encodes a member of the F-box protein family. This F-box protein interacts with S-phase kinase-associated protein 1A and cullin in order to form SCF complexes which function as ubiquitin lig>gg>ases.[provided by RefSeq, Sep 2010]

ZNF337 Gene

zinc fing>gg>er protein 337

This g>gg>ene encodes a zinc fing>gg>er domain containing>gg> protein. The function of this protein has yet to be determined. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Mar 2014]

ZNF334 Gene

zinc fing>gg>er protein 334

This g>gg>ene encodes a member of the C2H2 zinc fing>gg>er family. The encoded protein contains a Krueppel-associated box, fourteen C2H2 zinc fing>gg>er domains, and four C2H2-type/integ>gg>rase DNA-binding>gg> domains. Decreased expression of this g>gg>ene may be a marker for rheumatoid arthritis. Alternative splicing>gg> results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]

ZNF335 Gene

zinc fing>gg>er protein 335

The protein encoded by this g>gg>ene enhances transcriptional activation by lig>gg>and-bound nuclear hormone g>receptorg>s. However, it does this not by direct interaction with the g>receptorg>, but by direct interaction with the nuclear hormone g>receptorg> transcriptional coactivator NRC. The encoded protein may function by altering>gg> local chromatin structure. [provided by RefSeq, Jul 2008]

ZNF333 Gene

zinc fing>gg>er protein 333

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF331 Gene

zinc fing>gg>er protein 331

This g>gg>ene encodes a zinc fing>gg>er protein containing>gg> a KRAB (Kruppel-associated box) domain found in transcriptional repressors. This g>gg>ene may be methylated and silenced in cancer cells. This g>gg>ene is located within a differentially methylated reg>gg>ion (DMR) and shows allele-specific expression in placenta. Alternative splicing>gg> and the use of alternative promoters results in multiple transcript variants encoding>gg> the same protein. [provided by RefSeq, Nov 2015]

LOC100419768 Gene

ribosomal protein S15a pseudog>gg>ene

RACg>Gg>AP1P Gene

Rac g>Gg>TPase activating>gg> protein 1 pseudog>gg>ene

LOC100419761 Gene

zinc fing>gg>er protein 654 pseudog>gg>ene

OSBPL9P4 Gene

oxysterol binding>gg> protein-like 9 pseudog>gg>ene 4

OSBPL9P6 Gene

oxysterol binding>gg> protein-like 9 pseudog>gg>ene 6

OSBPL9P1 Gene

oxysterol binding>gg> protein-like 9 pseudog>gg>ene 1

THYN1 Gene

thymocyte nuclear protein 1

This g>gg>ene encodes a protein that is hig>gg>hly conserved among>gg> vertebrates and plant species and may be involved in the induction of apoptosis. Alternatively spliced transcript variants encoding>gg> different isoforms have been described. [provided by RefSeq, Jul 2008]

DVL1P1 Gene

dishevelled seg>gg>ment polarity protein 1 pseudog>gg>ene 1

Predicted to enable frizzled binding>gg> activity. Predicted to be involved in canonical Wnt sig>gg>naling>gg> pathway. Predicted to be located in cytoplasm. Predicted to be active in cytosol. Implicated in Dig>Gg>eorg>gg>e syndrome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC-ROR Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA, reg>gg>ulator of reprog>gg>ramming>gg>

This g>gg>ene produces a long>gg> non-coding>gg> RNA that reg>gg>ulates the reprog>gg>ramming>gg> of pluripotent stem cells. This RNA suppresses induction of tumor protein p53 after DNA damag>gg>e. It is thoug>gg>ht to act as a spong>gg>e for microRNAs that reg>gg>ulate stem cell factors POU class 5 homeobox 1, Nanog>gg>, and SRY-box 2. This RNA may also have a extracellular role in modulating>gg> response to hypoxia in hepatocellular cancer cells. Expression of this transcript is associated with tumor prog>gg>ression and epithelial to mesenchymal transition and metastasis. [provided by RefSeq, Dec 2017]

ZNF33B Gene

zinc fing>gg>er protein 33B

This g>gg>ene encodes a member of the zinc fing>gg>er family of proteins. This g>gg>ene shows decreased expression in cumulus cells derived from patients underg>gg>oing>gg> controlled ovarian stimulation. This g>gg>ene is present in a g>gg>ene cluster with several related zinc fing>gg>er g>gg>enes in the pericentromeric reg>gg>ion of chromosome 10. Pseudog>gg>enes have been identified on chromosomes 7 and 10. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Feb 2015]

ZNF33A Gene

zinc fing>gg>er protein 33A

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PATL1 Gene

protein associated with topoisomerase II homolog>gg> 1 (yeast)

Enables poly(g>Gg>) binding>gg> activity and poly(U) RNA binding>gg> activity. Involved in P-body assembly and deadenylation-dependent decapping>gg> of nuclear-transcribed mRNA. Located in CCR4-NOT complex; P-body; and cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100422013 Gene

catenin (cadherin-associated protein), beta 1, 88kDa pseudog>gg>ene

LINC00571 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 571

LOC101927966 Gene

40S ribosomal protein S24-like

LRP2BP Gene

LRP2 binding>gg> protein

Predicted to be located in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL10P8 Gene

ribosomal protein L10 pseudog>gg>ene

LINC01209 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1209

LINC01201 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1201

LINC01202 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1202

LINC01203 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1203

LINC01204 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1204

LINC01205 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1205

LINC01206 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1206

LINC01207 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1207

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP17-1 Gene

keratin associated protein 17-1

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal reg>gg>ions and are subdivided into three multi-g>gg>ene families according>gg> to amino acid composition: the hig>gg>h sulfur, the ultrahig>gg>h sulfur, and the hig>gg>h tyrosine/g>gg>lycine KAPs. This protein is a member of the ultrahig>gg>h sulfur KAP family and the g>gg>ene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

g>Gg>PS1 Gene

g>Gg> protein pathway suppressor 1

This g>gg>ene is known to suppress g>Gg>-protein and mitog>gg>en-activated sig>gg>nal transduction in mammalian cells. The encoded protein shares sig>gg>nificant similarity with Arabidopsis FUS6, which is a reg>gg>ulator of lig>gg>ht-mediated sig>gg>nal transduction in plant cells. [provided by RefSeq, Mar 2016]

g>Gg>PS2 Gene

g>Gg> protein pathway suppressor 2

This g>gg>ene encodes a protein involved in g>Gg> protein-mitog>gg>en-activated protein kinase (MAPK) sig>gg>naling>gg> cascades. When overexpressed in mammalian cells, this g>gg>ene could potently suppress a RAS- and MAPK-mediated sig>gg>nal and interfere with JNK activity, sug>gg>g>gg>esting>gg> that the function of this g>gg>ene may be sig>gg>nal repression. The encoded protein is an integ>gg>ral subunit of the NCOR1-HDAC3 (nuclear g>receptorg> corepressor 1-histone deacetylase 3) complex, and it was shown that the complex inhibits JNK activation throug>gg>h this subunit and thus could potentially provide an alternative mechanism for hormone-mediated antag>gg>onism of AP1 (activator protein 1) function. [provided by RefSeq, Jul 2008]

CARHSP1 Gene

calcium reg>gg>ulated heat stable protein 1, 24kDa

Enables mRNA 3'-UTR binding>gg> activity. Predicted to be involved in reg>gg>ulation of mRNA stability. Predicted to be located in P g>gg>ranule; cytoplasmic exosome (RNase complex); and cytosol. Predicted to be active in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZFP92 Gene

ZFP92 zinc fing>gg>er protein

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZFP90 Gene

ZFP90 zinc fing>gg>er protein

This g>gg>ene encodes a member of the zinc fing>gg>er protein family that modulates g>gg>ene expression. The encoded protein derepresses the transcription of certain fetal cardiac g>gg>enes and may contribute to the g>gg>enetic reprog>gg>ramming>gg> that occurs during>gg> the development of heart failure. g>Gg>enome wide association studies have identified this g>gg>ene among>gg> ulcerative colitis risk loci. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants. [provided by RefSeq, Mar 2015]

ZFP91 Gene

ZFP91 zinc fing>gg>er protein

The protein encoded by this g>gg>ene is a member of the zinc fing>gg>er family of proteins. The g>gg>ene product contains C2H2-type domains, which are the classical zinc fing>gg>er domains found in numerous nucleic acid-binding>gg> proteins. This protein functions as a reg>gg>ulator of the non-canonical NF-kappaB pathway in lymphotoxin-beta g>receptorg> sig>gg>naling>gg>. Alternative splicing>gg> results in multiple transcript variants. A read-throug>gg>h transcript variant composed of ZFP91 and the downstream CNTF g>gg>ene sequence has been identified, but it is thoug>gg>ht to be non-coding>gg>. Read-throug>gg>h transcription of ZFP91 and CNTF has also been observed in mouse. A ZFP91-related pseudog>gg>ene has also been identified on chromosome 2. [provided by RefSeq, Oct 2010]

LOC101060191 Gene

E3 ubiquitin-protein lig>gg>ase RINg>Gg>2-like

CDY18P Gene

chromodomain protein, Y-linked 18 pseudog>gg>ene

EPg>Gg>5 Gene

ectopic P-g>gg>ranules autophag>gg>y protein 5 homolog>gg> (C. eleg>gg>ans)

This g>gg>ene encodes a larg>gg>e coiled coil domain-containing>gg> protein that functions in autophag>gg>y during>gg> starvation conditions. Mutations in this g>gg>ene cause Vici syndrome. [provided by RefSeq, Aug>gg> 2015]

MLIP Gene

muscular LMNA-interacting>gg> protein

Predicted to enable lamin binding>gg> activity and transcription corepressor activity. Predicted to be involved in neg>gg>ative reg>gg>ulation of cardiac muscle hypertrophy in response to stress; neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II; and positive reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in PML body; nuclear envelope; and sarcolemma. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FBXO45 Gene

F-box protein 45

Members of the F-box protein family, such as FBXO45, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin lig>gg>ases. F-box proteins interact with SKP1 throug>gg>h the F box, and they interact with ubiquitination targ>gg>ets throug>gg>h other protein interaction domains (summary by Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Jan 2011]

FBXO47 Gene

F-box protein 47

FBXO46 Gene

F-box protein 46

Members of the F-box protein family, such as FBXO46, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin lig>gg>ases. F-box proteins interact with SKP1 throug>gg>h the F box, and they interact with ubiquitination targ>gg>ets throug>gg>h other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXO41 Gene

F-box protein 41

This g>gg>ene encodes a member of the F-box protein family, which is characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one of the four subunits of the SCF ubiquitin protein lig>gg>ase complex that plays a role in phosphorylation-dependent ubiquitination. F-box proteins are divided into three classes depending>gg> on the interaction substrate domain each contains in addition to the F-box motif: FBXW proteins contain WD-40 domains, FBXL proteins contain leucine-rich repeats, and FBXO proteins contain either different protein-protein interaction modules or no recog>gg>nizable motifs. The protein encoded by this g>gg>ene belong>gg>s to the FBXO class. [provided by RefSeq, Feb 2014]

FBXO40 Gene

F-box protein 40

Members of the F-box protein family, such as FBXO40, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin lig>gg>ases. F-box proteins interact with SKP1 throug>gg>h the F box, and they interact with ubiquitination targ>gg>ets throug>gg>h other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXO43 Gene

F-box protein 43

Members of the F-box protein family, such as FBXO43, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin lig>gg>ases. F-box proteins interact with SKP1 throug>gg>h the F box, and they interact with ubiquitination targ>gg>ets throug>gg>h other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXO42 Gene

F-box protein 42

Members of the F-box protein family, such as FBXO42, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (SKP1A; MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin lig>gg>ases. F-box proteins interact with SKP1 throug>gg>h the F box, and they interact with ubiquitination targ>gg>ets throug>gg>h other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Dec 2010]

FBXO48 Gene

F-box protein 48

CATIP Gene

ciliog>gg>enesis associated TTC17 interacting>gg> protein

Involved in actin filament polymerization and cilium org>gg>anization. Located in several cellular components, including>gg> actin cytoskeleton; nucleus; and plasma membrane. Implicated in spermatog>gg>enic failure 54. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC646700 Gene

UPF0607 protein ENSP00000381418-like pseudog>gg>ene

LSP1P1 Gene

lymphocyte-specific protein 1 pseudog>gg>ene 1

LSP1P2 Gene

lymphocyte-specific protein 1 pseudog>gg>ene 2

LOC100128795 Gene

coiled-coil domain-containing>gg> protein 144A-like

CEMIP Gene

cell mig>gg>ration inducing>gg> protein, hyaluronan binding>gg>

Enables several functions, including>gg> clathrin heavy chain binding>gg> activity; hyaluronic acid binding>gg> activity; and hyaluronong>gg>lucosaminidase activity. Involved in several processes, including>gg> hyaluronan catabolic process; positive reg>gg>ulation of protein phosphorylation; and positive reg>gg>ulation of protein targ>gg>eting>gg> to membrane. Located in several cellular components, including>gg> clathrin-coated endocytic vesicle; endoplasmic reticulum; and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FLJ23867 Gene

uncharacterized protein FLJ23867

LOC101929991 Gene

zinc fing>gg>er protein 93-like

LOC105378101 Gene

basic proline-rich protein-like

WBP2 Gene

WW domain binding>gg> protein 2

The g>gg>lobular WW domain is composed of 38 to 40 semiconserved amino acids shared by proteins of diverse functions including>gg> structural, reg>gg>ulatory, and sig>gg>naling>gg> proteins. The domain is involved in mediating>gg> protein-protein interactions throug>gg>h the binding>gg> of polyproline lig>gg>ands. This g>gg>ene encodes a WW domain binding>gg> protein that is a transcriptional coactivator of estrog>gg>en g>receptorg> alpha and prog>gg>esterone g>receptorg>. Defects in this g>gg>ene have been associated with hearing>gg> impairment. [provided by RefSeq, Jan 2017]

WBP1 Gene

WW domain binding>gg> protein 1

The g>gg>lobular WW domain, named for the conserved tryptophan residues in the protein motif present in various structural and reg>gg>ulatory proteins, is known to play a role in the mediation of protein-protein interactions. This g>gg>ene encodes a lig>gg>and of the WW domain of the Yes kinase-associated protein. Readthroug>gg>h transcription of the neig>gg>hboring>gg> upstream g>gg>ene, which encodes INO80 complex subunit B, into this g>gg>ene g>gg>enerates a non-coding>gg> transcript. [provided by RefSeq, Feb 2011]

WBP5 Gene

WW domain binding>gg> protein 5

The g>gg>lobular WW domain is composed of 38 to 40 semiconserved amino acids shared by proteins of diverse functions including>gg> structural, reg>gg>ulatory, and sig>gg>naling>gg> proteins. The domain is involved in mediating>gg> protein-protein interactions throug>gg>h the binding>gg> of polyproline lig>gg>ands. This g>gg>ene encodes a WW domain binding>gg> protein. This g>gg>ene also encodes a domain with similarity to the transcription elong>gg>ation factor A, SII-related family. Alternative splicing>gg> results in multiple transcript variants encoding>gg> a sing>gg>le isoform. [provided by RefSeq, Jul 2008]

WBP4 Gene

WW domain binding>gg> protein 4

This g>gg>ene encodes WW domain-containing>gg> binding>gg> protein 4. The WW domain represents a small and compact g>gg>lobular structure that interacts with proline-rich lig>gg>ands. This encoded protein is a g>gg>eneral spliceosomal protein that may play a role in cross-intron bridg>gg>ing>gg> of U1 and U2 snRNPs in the spliceosomal complex A. [provided by RefSeq, Jul 2008]

LOC100294160 Gene

protein FAM136A-like

LOC100133284 Gene

striatin, calmodulin binding>gg> protein pseudog>gg>ene

LOC102725182 Gene

putative POM121-like protein 1-like

LOC100505841 Gene

zinc fing>gg>er protein 474-like

Predicted to enable metal ion binding>gg> activity. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MRPL10 Gene

mitochondrial ribosomal protein L10

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein. Sequence analysis identified three transcript variants that encode two different isoforms. A pseudog>gg>ene corresponding>gg> to this g>gg>ene is found on chromosome 5q. [provided by RefSeq, Nov 2010]

MRPL11 Gene

mitochondrial ribosomal protein L11

This nuclear g>gg>ene encodes a 39S subunit component of the mitochondial ribosome. Alternative splicing>gg> results in multiple transcript variants. Pseudog>gg>enes for this g>gg>ene are found on chromosomes 5 and 12. [provided by RefSeq, May 2014]

MRPL12 Gene

mitochondrial ribosomal protein L12

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein which forms homodimers. In prokaryotic ribosomes, two L7/L12 dimers and one L10 protein form the L8 protein complex. [provided by RefSeq, Jul 2008]

MRPL13 Gene

mitochondrial ribosomal protein L13

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]

MRPL14 Gene

mitochondrial ribosomal protein L14

This nuclear g>gg>ene encodes a protein component of the 39S subunit of the mitochondrial ribosome. A pseudog>gg>ene of this g>gg>ene is found on chromosome 17. [provided by RefSeq, Jan 2016]

MRPL15 Gene

mitochondrial ribosomal protein L15

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein that belong>gg>s to the EcoL15 ribosomal protein family. A pseudog>gg>ene corresponding>gg> to this g>gg>ene is found on chromosome 15q. [provided by RefSeq, Jul 2008]

MRPL16 Gene

mitochondrial ribosomal protein L16

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]

MRPL17 Gene

mitochondrial ribosomal protein L17

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]

MRPL18 Gene

mitochondrial ribosomal protein L18

This nuclear g>gg>ene encodes a protein component of the larg>gg>er 39S subunit of mitochondrial ribosome. This protein may also aid in the import of nuclear-encoded 5S rRNA into mitochondria. Alternative splicing>gg> results in multiple transcript variants, most of which are not predicted to encode a protein. A pseudog>gg>ene of this g>gg>ene is found on chromosome 16. [provided by RefSeq, Jan 2016]

MRPL19 Gene

mitochondrial ribosomal protein L19

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]

LINC01452 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1452

LOC100422538 Gene

recombination sig>gg>nal binding>gg> protein for immunog>gg>lobulin kappa J reg>gg>ion pseudog>gg>ene

SNCg>Gg> Gene

synuclein, g>gg>amma (breast cancer-specific protein 1)

This g>gg>ene encodes a member of the synuclein family of proteins which are believed to be involved in the pathog>gg>enesis of neurodeg>gg>enerative diseases. Mutations in this g>gg>ene have also been associated with breast tumor development. [provided by RefSeq, Jan 2010]

RNF126 Gene

ring>gg> fing>gg>er protein 126

The protein encoded by this g>gg>ene contains a RINg>Gg> fing>gg>er domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. [provided by RefSeq, Jul 2008]

RNF123 Gene

ring>gg> fing>gg>er protein 123

The protein encoded by this g>gg>ene contains a C-terminal RINg>Gg> fing>gg>er domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions, and an N-terminal SPRY domain. This protein displays E3 ubiquitin lig>gg>ase activity toward the cyclin-dependent kinase inhibitor 1B which is also known as p27 or KIP1. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Feb 2016]

RNF122 Gene

ring>gg> fing>gg>er protein 122

The encoded protein contains a RINg>Gg> fing>gg>er, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. The encoded protein is localized to the endoplasmic reticulum and g>gg>olg>gg>i apparatus, and may be associated with cell viability. [provided by RefSeq, Jul 2013]

RNF121 Gene

ring>gg> fing>gg>er protein 121

The protein encoded by this g>gg>ene contains a RINg>Gg> fing>gg>er, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. Several alternatively spliced transcript variants have been noted for this g>gg>ene, however, not all are likely to encode viable protein products. [provided by RefSeq, Sep 2008]

LOC100996716 Gene

vesicle-trafficking>gg> protein SEC22b-like

SIAH1 Gene

siah E3 ubiquitin protein lig>gg>ase 1

This g>gg>ene encodes a protein that is a member of the seven in absentia homolog>gg> (SIAH) family. The protein is an E3 lig>gg>ase and is involved in ubiquitination and proteasome-mediated deg>gg>radation of specific proteins. The activity of this ubiquitin lig>gg>ase has been implicated in the development of certain forms of Parkinson's disease, the reg>gg>ulation of the cellular response to hypoxia and induction of apoptosis. Alternative splicing>gg> results in several additional transcript variants, some encoding>gg> different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]

SIAH2 Gene

siah E3 ubiquitin protein lig>gg>ase 2

This g>gg>ene encodes a protein that is a member of the seven in absentia homolog>gg> (SIAH) family. The protein is an E3 lig>gg>ase and is involved in ubiquitination and proteasome-mediated deg>gg>radation of specific proteins. The activity of this ubiquitin lig>gg>ase has been implicated in reg>gg>ulating>gg> cellular response to hypoxia. [provided by RefSeq, Jul 2008]

SIAH3 Gene

siah E3 ubiquitin protein lig>gg>ase family member 3

Predicted to enable ubiquitin conjug>gg>ating>gg> enzyme binding>gg> activity and ubiquitin protein lig>gg>ase activity. Involved in neg>gg>ative reg>gg>ulation of protein targ>gg>eting>gg> to mitochondrion and reg>gg>ulation of protein stability. Located in mitochondrion and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RBMY2OP Gene

RNA binding>gg> motif protein, Y-linked, family 2, member O pseudog>gg>ene

PHLPP1 Gene

PH domain and leucine rich repeat protein phosphatase 1

This g>gg>ene encodes a member of the serine/threonine phosphatase family. The encoded protein promotes apoptosis by dephosphorylating>gg> and inactivating>gg> the serine/threonine kinase Akt, and functions as a tumor suppressor in multiple types of cancer. Increased expression of this g>gg>ene may also play a role in obesity and type 2 diabetes by interfering>gg> with Akt-mediated insulin sig>gg>naling>gg>. [provided by RefSeq, Dec 2011]

HSPBP1 Gene

HSPA (heat shock 70kDa) binding>gg> protein, cytoplasmic cochaperone 1

Enables molecular sequestering>gg> activity and ubiquitin protein lig>gg>ase binding>gg> activity. Involved in positive reg>gg>ulation of proteasomal ubiquitin-dependent protein catabolic process and positive reg>gg>ulation of protein ubiquitination. Is active in extracellular space. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

HSPA8P15 Gene

heat shock 70kDa protein 8 pseudog>gg>ene 15

LOC388955 Gene

PRELI domain-containing>gg> protein 1, mitochondrial pseudog>gg>ene

HSPA8P17 Gene

heat shock 70kDa protein 8 pseudog>gg>ene 17

BAP1 Gene

BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)

This g>gg>ene belong>gg>s to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating>gg> enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer type 1 susceptibility protein (BRCA1) via the RINg>Gg> fing>gg>er domain of the latter and acts as a tumor suppressor. In addition, the enzyme may be involved in reg>gg>ulation of transcription, reg>gg>ulation of cell cycle and g>gg>rowth, response to DNA damag>gg>e and chromatin dynamics. g>Gg>ermline mutations in this g>gg>ene may be associated with tumor predisposition syndrome (TPDS), which involves increased risk of cancers including>gg> malig>gg>nant mesothelioma, uveal melanoma and cutaneous melanoma. [provided by RefSeq, May 2013]

FBXO18 Gene

F-box protein, helicase, 18

This g>gg>ene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein lig>gg>ase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing>gg> WD-40 domains, Fbls containing>gg> leucine-rich repeats, and Fbxs containing>gg> either different protein-protein interaction modules or no recog>gg>nizable motifs. The protein encoded by this g>gg>ene belong>gg>s to the Fbx class. It contains an F-box motif and seven conserved helicase motifs, and has both DNA-dependent ATPase and DNA unwinding>gg> activities. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been identified for this g>gg>ene. [provided by RefSeq, Jul 2008]

CDRT7 Gene

CMT1A duplicated reg>gg>ion transcript 7 (non-protein coding>gg>)

PCBP4 Gene

poly(rC) binding>gg> protein 4

This g>gg>ene encodes a member of the KH-domain protein subfamily. Proteins of this subfamily, also referred to as alpha-CPs, bind to RNA with a specificity for C-rich pyrimidine reg>gg>ions. Alpha-CPs play important roles in post-transcriptional activities and have different cellular distributions. This g>gg>ene is induced by the p53 tumor suppressor, and the encoded protein can suppress cell proliferation by inducing>gg> apoptosis and cell cycle arrest in g>Gg>(2)-M. This g>gg>ene's protein is found in the cytoplasm, yet it lacks the nuclear localization sig>gg>nals found in other subfamily members. Multiple alternatively spliced transcript variants have been described, but the full-leng>gg>th nature for only some has been determined. [provided by RefSeq, Jul 2008]

RPS16P7 Gene

ribosomal protein S16 pseudog>gg>ene 7

RPS16P6 Gene

ribosomal protein S16 pseudog>gg>ene 6

RPS16P5 Gene

ribosomal protein S16 pseudog>gg>ene 5

RPS16P4 Gene

ribosomal protein S16 pseudog>gg>ene 4

RPS16P3 Gene

ribosomal protein S16 pseudog>gg>ene 3

RPS16P2 Gene

ribosomal protein S16 pseudog>gg>ene 2

RPS16P1 Gene

ribosomal protein S16 pseudog>gg>ene 1

PHF3 Gene

PHD fing>gg>er protein 3

This g>gg>ene encodes a member of a PHD fing>gg>er-containing>gg> g>gg>ene family. This g>gg>ene may function as a transcription factor and may be involved in g>gg>lioblastomas development. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Mar 2014]

CEP112 Gene

centrosomal protein 112kDa

This g>gg>ene encodes a coiled-coil domain containing>gg> protein that belong>gg>s to the cell division control protein 42 effector protein family. In neurons, it localizes to the cytoplasm of dendrites and is also enriched in the nucleus where it interacts with the RNA polymerase III transcriptional repressor Maf1 to reg>gg>ulate g>gg>amma-aminobutyric acid A g>receptorg> surface expression. In addition, the protein has been identified as a component of the human centrosome. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Nov 2014]

RNF225 Gene

ring>gg> fing>gg>er protein 225

Predicted to enable ubiquitin protein lig>gg>ase activity. Predicted to be involved in protein ubiquitination. Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC102723753 Gene

putative HERC2-like protein 3

LOC100289194 Gene

fibrous sheath CABYR-binding>gg> protein-like

LOC100129224 Gene

ankyrin repeat domain-containing>gg> protein SOWAHC-like

PDAP1 Gene

PDg>Gg>FA associated protein 1

The protein encoded by this g>gg>ene is a phosphoprotein that may upreg>gg>ulate the PDg>Gg>FA-stimulated g>gg>rowth of fibroblasts and also downreg>gg>ulate the mitog>gg>enicity of PDg>Gg>FB. The encoded protein in rodents has been shown to bind PDg>Gg>FA with a low affinity. [provided by RefSeq, Dec 2010]

LOC101930145 Gene

putative uncharacterized protein encoded by LINC00269

TRAPPC2P5 Gene

trafficking>gg> protein particle complex 2 pseudog>gg>ene 5

TRAPPC2P4 Gene

trafficking>gg> protein particle complex 2 pseudog>gg>ene 4

TRAPPC2P7 Gene

trafficking>gg> protein particle complex 2 pseudog>gg>ene 7

TRAPPC2P6 Gene

trafficking>gg> protein particle complex 2 pseudog>gg>ene 6

TRAPPC2P3 Gene

trafficking>gg> protein particle complex 2 pseudog>gg>ene 3

TRAPPC2P2 Gene

trafficking>gg> protein particle complex 2 pseudog>gg>ene 2

TRAPPC2P9 Gene

trafficking>gg> protein particle complex 2 pseudog>gg>ene 9

TRAPPC2P8 Gene

trafficking>gg> protein particle complex 2 pseudog>gg>ene 8

ZNF83 Gene

zinc fing>gg>er protein 83

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

AUH Gene

AU RNA binding>gg> protein/enoyl-CoA hydratase

This g>gg>ene encodes bifunctional mitochondrial protein that has both RNA-binding>gg> and hydratase activities. The encoded protein is a methylg>gg>lutaconyl-CoA hydratase that catalyzes the hydration of 3-methylg>gg>lutaconyl-CoA to 3-hydroxy-3-methyl-g>gg>lutaryl-CoA, a critical step in the leucine deg>gg>radation pathway. This protein also binds AU-rich elements (AREs) found in the 3' UTRs of rapidly decaying>gg> mRNAs including>gg> c-fos, c-myc and g>gg>ranulocyte/ macrophag>gg>e colony stimulating>gg> factor. ARE elements are involved in directing>gg> RNA to rapid deg>gg>radation and deadenylation. This protein is localizes to the mitochondrial matrix and the inner mitochondrial membrane and may be involved in mitochondrial protein synthesis. Mutations in this g>gg>ene are the cause of 3-methylg>gg>lutaconic aciduria, type I. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Sep 2015]

ZNF81 Gene

zinc fing>gg>er protein 81

This g>gg>ene encodes a protein that likely functions as a transcription factor. The protein contains an N-terminal KRAB domain and several C2H2-type zinc fing>gg>er motifs. Mutations in this g>gg>ene cause an X-linked form of intellectual disability (MRX45). Microduplication of a reg>gg>ion of chromosome X including>gg> this g>gg>ene has also been associated with other forms of intellectual disability. [provided by RefSeq, Jul 2017]

ZNF80 Gene

zinc fing>gg>er protein 80

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to act upstream of or within neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in cytoplasm. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF85 Gene

zinc fing>gg>er protein 85

Enables DNA-binding>gg> transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Located in nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF84 Gene

zinc fing>gg>er protein 84

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CAPZA3 Gene

capping>gg> protein (actin filament) muscle Z-line, alpha 3

This g>gg>ene encodes an actin capping>gg> protein, one of the F-actin capping>gg> protein alpha subunit family. The encoded protein is predominantly localized to the neck reg>gg>ion of ejaculated sperm, other immunohistochemical sig>gg>nals were found in the tail and postacrosomal reg>gg>ions. The encoded protein may also form heterodimers of alpha and beta subunits. This protein may be important in determining>gg> sperm architecture and male fertility. [provided by RefSeq, Jul 2008]

CAPZA2 Gene

capping>gg> protein (actin filament) muscle Z-line, alpha 2

The protein encoded by this g>gg>ene is a member of the F-actin capping>gg> protein alpha subunit family. It is the alpha subunit of the barbed-end actin binding>gg> protein Cap Z. By capping>gg> the barbed end of actin filaments, Cap Z reg>gg>ulates the g>gg>rowth of the actin filaments at the barbed end. [provided by RefSeq, Jul 2008]

CAPZA1 Gene

capping>gg> protein (actin filament) muscle Z-line, alpha 1

CAPZA1 is a member of the F-actin capping>gg> protein alpha subunit family. This g>gg>ene encodes the alpha subunit of the barbed-end actin binding>gg> protein. The protein reg>gg>ulates g>gg>rowth of the actin filament by capping>gg> the barbed end of g>gg>rowing>gg> actin filaments. [provided by RefSeq, Jul 2008]

LOC105369222 Gene

uncharacterized protein C6orf106 homolog>gg> pseudog>gg>ene

RPL7AP19 Gene

ribosomal protein L7a pseudog>gg>ene 19

RPL7AP18 Gene

ribosomal protein L7a pseudog>gg>ene 18

RPL7AP15 Gene

ribosomal protein L7a pseudog>gg>ene 15

RPL7AP14 Gene

ribosomal protein L7a pseudog>gg>ene 14

RPL7AP17 Gene

ribosomal protein L7a pseudog>gg>ene 17

RPL7AP16 Gene

ribosomal protein L7a pseudog>gg>ene 16

RPL7AP10 Gene

ribosomal protein L7a pseudog>gg>ene 10

RPL7AP13 Gene

ribosomal protein L7a pseudog>gg>ene 13

LINC01166 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1166

RPS20P22 Gene

ribosomal protein S20 pseudog>gg>ene 22

RPS20P21 Gene

ribosomal protein S20 pseudog>gg>ene 21

RPS20P20 Gene

ribosomal protein S20 pseudog>gg>ene 20

RPS20P26 Gene

ribosomal protein S20 pseudog>gg>ene 26

RPL37A Gene

ribosomal protein L37a

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 60S subunit. The protein belong>gg>s to the L37AE family of ribosomal proteins. It is located in the cytoplasm. The protein contains a C4-type zinc fing>gg>er-like domain. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

ZNF736P7Y Gene

zinc fing>gg>er protein 736 pseudog>gg>ene 7, Y-linked

RPS20P28 Gene

ribosomal protein S20 pseudog>gg>ene 28

PPP1R14D Gene

protein phosphatase 1, reg>gg>ulatory (inhibitor) subunit 14D

Protein phosphatase-1 (PP1; see MIM 176875) is a major cellular phosphatase that reverses serine/threonine protein phosphorylation. PPP1R14D is a PP1 inhibitor that itself is reg>gg>ulated by phosphorylation (Liu et al., 2004 [PubMed 12974676]).[supplied by OMIM, Feb 2010]

PPP1R14B Gene

protein phosphatase 1, reg>gg>ulatory (inhibitor) subunit 14B

Predicted to enable protein serine/threonine phosphatase inhibitor activity. Predicted to be involved in innate immune response. Predicted to be located in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PPP1R14C Gene

protein phosphatase 1, reg>gg>ulatory (inhibitor) subunit 14C

The deg>gg>ree of protein phosphorylation is reg>gg>ulated by a balance of protein kinase and phosphatase activities. Protein phosphatase-1 (PP1; see MIM 176875) is a sig>gg>nal-transducing>gg> phosphatase that influences neuronal activity, protein synthesis, metabolism, muscle contraction, and cell division. PPP1R14C is an inhibitor of PP1 (Liu et al., 2002 [PubMed 11812771]).[supplied by OMIM, Feb 2010]

PPP1R14A Gene

protein phosphatase 1, reg>gg>ulatory (inhibitor) subunit 14A

The protein encoded by this g>gg>ene belong>gg>s to the protein phosphatase 1 (PP1) inhibitor family. This protein is an inhibitor of smooth muscle myosin phosphatase, and has hig>gg>her inhibitory activity when phosphorylated. Inhibition of myosin phosphatase leads to increased myosin phosphorylation and enhanced smooth muscle contraction. Alternatively spliced transcript variants encoding>gg> different isoforms have been noted for this g>gg>ene. [provided by RefSeq, Sep 2011]

RPL7P43 Gene

ribosomal protein L7 pseudog>gg>ene 43

ZNF863P Gene

zinc fing>gg>er protein 863, pseudog>gg>ene

ARL2BPP5 Gene

ADP-ribosylation factor-like 2 binding>gg> protein pseudog>gg>ene 5

VPS53 Gene

vacuolar protein sorting>gg> 53 homolog>gg> (S. cerevisiae)

Involved in endocytic recycling>gg> and retrog>gg>rade transport, endosome to g>Gg>olg>gg>i. Acts upstream of or within lysosomal transport. Located in several cellular components, including>gg> g>Gg>olg>gg>i apparatus; perinuclear reg>gg>ion of cytoplasm; and recycling>gg> endosome. Part of EARP complex and g>Gg>ARP complex. Implicated in pontocerebellar hypoplasia type 2E. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FLJ43879 Gene

FLJ43879 protein

ARL2BPP2 Gene

ADP-ribosylation factor-like 2 binding>gg> protein pseudog>gg>ene 2

LOC105370288 Gene

putative uncharacterized protein C1orf99

LOC102724655 Gene

putative aquaporin-7-like protein 3

THAP1 Gene

THAP domain containing>gg>, apoptosis associated protein 1

The protein encoded by this g>gg>ene contains a THAP domain, a conserved DNA-binding>gg> domain. This protein colocalizes with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies, and functions as a proapoptotic factor that links PAWR to PML nuclear bodies. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

LOC102724658 Gene

C-terminal-binding>gg> protein 2 pseudog>gg>ene

BISPR Gene

BST2 interferon stimulated positive reg>gg>ulator (non-protein coding>gg>)

g>Gg>NL3LP1 Gene

g>gg>uanine nucleotide binding>gg> protein-like 3 (nucleolar)-like pseudog>gg>ene 1

RPL36AP47 Gene

ribosomal protein L36a pseudog>gg>ene 47

RPL36AP46 Gene

ribosomal protein L36a pseudog>gg>ene 46

RPL36AP45 Gene

ribosomal protein L36a pseudog>gg>ene 45

RPL36AP44 Gene

ribosomal protein L36a pseudog>gg>ene 44

RPL36AP43 Gene

ribosomal protein L36a pseudog>gg>ene 43

RPL36AP42 Gene

ribosomal protein L36a pseudog>gg>ene 42

RPL36AP41 Gene

ribosomal protein L36a pseudog>gg>ene 41

RPL36AP40 Gene

ribosomal protein L36a pseudog>gg>ene 40

LINC00415 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 415

LINC00411 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 411

LOC442427 Gene

putative UPF0607 protein ENSP00000381418

CDKN2AIP Gene

CDKN2A interacting>gg> protein

The protein encoded by this g>gg>ene reg>gg>ulates the DNA damag>gg>e response throug>gg>h several different sig>gg>naling>gg> pathways. One such pathway is the p53-HDM2-p21(WAF1) pathway, which is critical to the DNA damag>gg>e response. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Nov 2015]

DKFZP434C153 Gene

DKFZP434C153 protein

CHERP Gene

calcium homeostasis endoplasmic reticulum protein

Enables transmembrane transporter binding>gg> activity. Involved in positive reg>gg>ulation of calcineurin-NFAT sig>gg>naling>gg> cascade and release of sequestered calcium ion into cytosol. Acts upstream of or within intracellular calcium ion homeostasis and neg>gg>ative reg>gg>ulation of cell population proliferation. Located in perinuclear reg>gg>ion of cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TCL6 Gene

T-cell leukemia/lymphoma 6 (non-protein coding>gg>)

LOC102723681 Gene

protein capicua homolog>gg> pseudog>gg>ene

LOC102723688 Gene

trithorax g>gg>roup protein osa-like

LOC100133326 Gene

serine/threonine-protein phosphatase 4 reg>gg>ulatory subunit 2-like

ZNF619P1 Gene

zinc fing>gg>er protein 619 pseudog>gg>ene 1

LOC100420758 Gene

poly(A) binding>gg> protein, nuclear 1 pseudog>gg>ene

ZNF33BP1 Gene

zinc fing>gg>er protein 33B pseudog>gg>ene 1

COMP Gene

cartilag>gg>e olig>gg>omeric matrix protein

The protein encoded by this g>gg>ene is a noncollag>gg>enous extracellular matrix (ECM) protein. It consists of five identical g>gg>lycoprotein subunits, each with Eg>Gg>F-like and calcium-binding>gg> (thrombospondin-like) domains. Olig>gg>omerization results from formation of a five-stranded coiled coil and disulfides. Binding>gg> to other ECM proteins such as collag>gg>en appears to depend on divalent cations. Contraction or expansion of a 5 aa aspartate repeat and other mutations can cause pseudochondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). [provided by RefSeq, Jul 2016]

LOC283028 Gene

putative SCAN domain-containing>gg> protein SCAND2P

CDY5P Gene

chromodomain protein, Y-linked 5 pseudog>gg>ene

LOC442017 Gene

interferon induced transmembrane protein 3 pseudog>gg>ene

AEBP1 Gene

AE binding>gg> protein 1

This g>gg>ene encodes a member of carboxypeptidase A protein family. The encoded protein may function as a transcriptional repressor and play a role in adipog>gg>enesis and smooth muscle cell differentiation. Studies in mice sug>gg>g>gg>est that this g>gg>ene functions in wound healing>gg> and abdominal wall development. Overexpression of this g>gg>ene is associated with g>gg>lioblastoma. [provided by RefSeq, May 2013]

AEBP2 Gene

AE binding>gg> protein 2

Predicted to enable DNA binding>gg> activity; metal ion binding>gg> activity; and transcription coreg>gg>ulator activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to act upstream of or within reg>gg>ulation of DNA-templated transcription. Located in nucleoplasm. Part of ESC/E(Z) complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100130746 Gene

AKT interacting>gg> protein pseudog>gg>ene

DKFZP547K1610 Gene

uncharacterized protein DKFZp547K1610

LOC101929308 Gene

protein FAM173B-like

RPS2P8 Gene

ribosomal protein S2 pseudog>gg>ene 8

RPS2P7 Gene

ribosomal protein S2 pseudog>gg>ene 7

RPS2P4 Gene

ribosomal protein S2 pseudog>gg>ene 4

RPS2P2 Gene

ribosomal protein S2 pseudog>gg>ene 2

RPS2P1 Gene

ribosomal protein S2 pseudog>gg>ene 1

ZNF141 Gene

zinc fing>gg>er protein 141

The protein encoded by this g>gg>ene is a zinc fing>gg>er protein that may be a tumor suppressor. Defects in this g>gg>ene have been associated with autosomal recessive postaxial polydactyly type A. [provided by RefSeq, Jan 2017]

ZNF140 Gene

zinc fing>gg>er protein 140

Enables DNA-binding>gg> transcription repressor activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF143 Gene

zinc fing>gg>er protein 143

Enables DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Involved in positive reg>gg>ulation of snRNA transcription by RNA polymerase II. Predicted to be located in nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF142 Gene

zinc fing>gg>er protein 142

The protein encoded by this g>gg>ene belong>gg>s to the Kruppel family of C2H2-type zinc fing>gg>er proteins. It contains 31 C2H2-type zinc fing>gg>ers and may be involved in transcriptional reg>gg>ulation. Alternatively spliced transcript variants have been found for this g>gg>ene. [provided by RefSeq, Jan 2013]

ZNF146 Gene

zinc fing>gg>er protein 146

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Located in cytosol and nucleolus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF148 Gene

zinc fing>gg>er protein 148

The protein encoded by this g>gg>ene is a member of the Kruppel family of zinc fing>gg>er DNA binding>gg> proteins. The encoded protein activates transcription of the T-cell g>receptorg> and intestinal alkaline phosphatase g>gg>enes but represses transcription of the ornithine decarboxylase, vimentin, g>gg>astrin, stomelysin, and enolase g>gg>enes. Increased expression of this g>gg>ene results in decreased patient survival rates from colorectal cancer, while mutations in this g>gg>ene have been associated with g>gg>lobal developmental delay, hypoplastic corpus callosum, and dysmorphic facies. [provided by RefSeq, Feb 2017]

LOC100419110 Gene

ribosomal protein L4 pseudog>gg>ene

RANg>Gg>AP1 Gene

Ran g>Gg>TPase activating>gg> protein 1

This g>gg>ene encodes a protein that associates with the nuclear pore complex and participates in the reg>gg>ulation of nuclear transport. The encoded protein interacts with Ras-related nuclear protein 1 (RAN) and reg>gg>ulates g>gg>uanosine triphosphate (g>Gg>TP)-binding>gg> and exchang>gg>e. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2013]

HSBP1P2 Gene

heat shock factor binding>gg> protein 1 pseudog>gg>ene 2

PKIg>Gg> Gene

protein kinase (cAMP-dependent, catalytic) inhibitor g>gg>amma

This g>gg>ene encodes a member of the protein kinase inhibitor family. Studies of a similar protein in mice sug>gg>g>gg>est that this protein acts as a potent competitive cAMP-dependent protein kinase inhibitor, and is a predominant form of inhibitor in various tissues. The encoded protein may be involved in osteog>gg>enesis. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2013]

PKIA Gene

protein kinase (cAMP-dependent, catalytic) inhibitor alpha

The protein encoded by this g>gg>ene is a member of the cAMP-dependent protein kinase (PKA) inhibitor family. This protein was demonstrated to interact with and inhibit the activities of both C alpha and C beta catalytic subunits of the PKA. Alternatively spliced transcript variants encoding>gg> the same protein have been reported. [provided by RefSeq, Jul 2008]

PKIB Gene

protein kinase (cAMP-dependent, catalytic) inhibitor beta

This g>gg>ene encodes a member of the cAMP-dependent protein kinase inhibitor family. The encoded protein may play a role in the protein kinase A (PKA) pathway by interacting>gg> with the catalytic subunit of PKA, and overexpression of this g>gg>ene may play a role in prostate cancer. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Jul 2012]

LOC105369239 Gene

multidrug>gg> resistance-associated protein 6

FABP7P2 Gene

fatty acid binding>gg> protein 7, brain pseudog>gg>ene 2

FABP7P1 Gene

fatty acid binding>gg> protein 7, brain pseudog>gg>ene 1

LOC105369237 Gene

sperm protein associated with the nucleus on the X chromosome B/F

ZNF736P4Y Gene

zinc fing>gg>er protein 736 pseudog>gg>ene 4, Y-linked

LOC100652897 Gene

density-reg>gg>ulated protein pseudog>gg>ene

MAPK3 Gene

mitog>gg>en-activated protein kinase 3

The protein encoded by this g>gg>ene is a member of the MAP kinase family. MAP kinases, also known as extracellular sig>gg>nal-reg>gg>ulated kinases (ERKs), act in a sig>gg>naling>gg> cascade that reg>gg>ulates various cellular processes such as proliferation, differentiation, and cell cycle prog>gg>ression in response to a variety of extracellular sig>gg>nals. This kinase is activated by upstream kinases, resulting>gg> in its translocation to the nucleus where it phosphorylates nuclear targ>gg>ets. Alternatively spliced transcript variants encoding>gg> different protein isoforms have been described. [provided by RefSeq, Jul 2008]

ZNF736P12Y Gene

zinc fing>gg>er protein 736 pseudog>gg>ene 12, Y-linked

MAPK1 Gene

mitog>gg>en-activated protein kinase 1

This g>gg>ene encodes a member of the MAP kinase family. MAP kinases, also known as extracellular sig>gg>nal-reg>gg>ulated kinases (ERKs), act as an integ>gg>ration point for multiple biochemical sig>gg>nals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription reg>gg>ulation and development. The activation of this kinase requires its phosphorylation by upstream kinases. Upon activation, this kinase translocates to the nucleus of the stimulated cells, where it phosphorylates nuclear targ>gg>ets. One study also sug>gg>g>gg>ests that this protein acts as a transcriptional repressor independent of its kinase activity. The encoded protein has been identified as a moonlig>gg>hting>gg> protein based on its ability to perform mechanistically distinct functions. Two alternatively spliced transcript variants encoding>gg> the same protein, but differing>gg> in the UTRs, have been reported for this g>gg>ene. [provided by RefSeq, Jan 2014]

MAPK6 Gene

mitog>gg>en-activated protein kinase 6

The protein encoded by this g>gg>ene is a member of the Ser/Thr protein kinase family, and is most closely related to mitog>gg>en-activated protein kinases (MAP kinases). MAP kinases also known as extracellular sig>gg>nal-reg>gg>ulated kinases (ERKs), are activated throug>gg>h protein phosphorylation cascades and act as integ>gg>ration points for multiple biochemical sig>gg>nals. This kinase is localized in the nucleus, and has been reported to be activated in fibroblasts upon treatment with serum or phorbol esters. [provided by RefSeq, Jul 2008]

MAPK4 Gene

mitog>gg>en-activated protein kinase 4

Mitog>gg>en-activated protein kinase 4 is a member of the mitog>gg>en-activated protein kinase family. Tyrosine kinase g>gg>rowth factor g>receptorg>s activate mitog>gg>en-activated protein kinases which then translocate into the nucleus and phosphorylate nuclear targ>gg>ets. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, May 2014]

MAPK8 Gene

mitog>gg>en-activated protein kinase 8

The protein encoded by this g>gg>ene is a member of the MAP kinase family. MAP kinases act as an integ>gg>ration point for multiple biochemical sig>gg>nals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription reg>gg>ulation and development. This kinase is activated by various cell stimuli, and targ>gg>ets specific transcription factors, and thus mediates immediate-early g>gg>ene expression in response to cell stimuli. The activation of this kinase by tumor-necrosis factor alpha (TNF-alpha) is found to be required for TNF-alpha induced apoptosis. This kinase is also involved in UV radiation induced apoptosis, which is thoug>gg>ht to be related to cytochrom c-mediated cell death pathway. Studies of the mouse counterpart of this g>gg>ene sug>gg>g>gg>ested that this kinase play a key role in T cell proliferation, apoptosis and differentiation. Several alternatively spliced transcript variants encoding>gg> distinct isoforms have been reported. [provided by RefSeq, Apr 2016]

MAPK9 Gene

mitog>gg>en-activated protein kinase 9

The protein encoded by this g>gg>ene is a member of the MAP kinase family. MAP kinases act as an integ>gg>ration point for multiple biochemical sig>gg>nals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription reg>gg>ulation and development. This kinase targ>gg>ets specific transcription factors, and thus mediates immediate-early g>gg>ene expression in response to various cell stimuli. It is most closely related to MAPK8, both of which are involved in UV radiation induced apoptosis, thoug>gg>ht to be related to the cytochrome c-mediated cell death pathway. This g>gg>ene and MAPK8 are also known as c-Jun N-terminal kinases. This kinase blocks the ubiquitination of tumor suppressor p53, and thus it increases the stability of p53 in nonstressed cells. Studies of this g>gg>ene's mouse counterpart sug>gg>g>gg>est a key role in T-cell differentiation. Several alternatively spliced transcript variants encoding>gg> distinct isoforms have been reported. [provided by RefSeq, Sep 2008]

RPL5P17 Gene

ribosomal protein L5 pseudog>gg>ene 17

RPL5P16 Gene

ribosomal protein L5 pseudog>gg>ene 16

LOC100288437 Gene

ring>gg> fing>gg>er and WD repeat domain 2, E3 ubiquitin protein lig>gg>ase pseudog>gg>ene

RPS26P32 Gene

ribosomal protein S26 pseudog>gg>ene 32

RPS26P31 Gene

ribosomal protein S26 pseudog>gg>ene 31

RPS26P36 Gene

ribosomal protein S26 pseudog>gg>ene 36

RPS26P37 Gene

ribosomal protein S26 pseudog>gg>ene 37

RPS26P34 Gene

ribosomal protein S26 pseudog>gg>ene 34

RPS26P35 Gene

ribosomal protein S26 pseudog>gg>ene 35

RPS26P38 Gene

ribosomal protein S26 pseudog>gg>ene 38

RPS26P39 Gene

ribosomal protein S26 pseudog>gg>ene 39

RPL5P19 Gene

ribosomal protein L5 pseudog>gg>ene 19

RPL5P18 Gene

ribosomal protein L5 pseudog>gg>ene 18

CREB3L2 Gene

cAMP responsive element binding>gg> protein 3-like 2

This g>gg>ene encodes a member of the oasis bZIP transcription factor family. Members of this family can dimerize but form homodimers only. The encoded protein is a transcriptional activator. Translocations between this g>gg>ene on chromosome 7 and the g>gg>ene fused in sarcoma on chromosome 16 can be found in some tumors. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Dec 2011]

LOC105379200 Gene

skin secretory protein xP2-like

SPATA41 Gene

spermatog>gg>enesis associated 41 (non-protein coding>gg>)

SPATA42 Gene

spermatog>gg>enesis associated 42 (non-protein coding>gg>)

FAM90A9P Gene

putative protein FAM90A9

FAM90A9 belong>gg>s to subfamily II of the primate-specific FAM90A g>gg>ene family, which orig>gg>inated from multiple duplications and rearrang>gg>ements (Bosch et al., 2007 [PubMed 17684299]). For backg>gg>round information on the FAM90A g>gg>ene family, as well as information on the evolution of FAM90A g>gg>enes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009]

ALMS1 Gene

Alstrom syndrome protein 1

This g>gg>ene encodes a protein containing>gg> a larg>gg>e tandem-repeat domain as well as additional low complexity reg>gg>ions. The encoded protein functions in microtubule org>gg>anization, particularly in the formation and maintanance of cilia. Mutations in this g>gg>ene cause Alstrom syndrome. There is a pseudog>gg>ene for this g>gg>ene located adjacent in the same reg>gg>ion of chromosome 2. Alternative splice variants have been described but their full leng>gg>th nature has not been determined. [provided by RefSeq, Apr 2014]

ZNF968P Gene

zinc fing>gg>er protein 968, pseudog>gg>ene

LOC102724923 Gene

protein FRg>Gg>1B-like

LOC102724922 Gene

putative aquaporin-7-like protein 3

LOC102724928 Gene

putative cyclin-Y-like protein 3

Predicted to be involved in reg>gg>ulation of canonical Wnt sig>gg>naling>gg> pathway. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105377189 Gene

putative uncharacterized protein ENSP00000383309

SYAP1 Gene

synapse associated protein 1

Involved in several processes, including>gg> TORC2 sig>gg>naling>gg>; cellular response to epidermal g>gg>rowth factor stimulus; and cellular response to peptide hormone stimulus. Located in several cellular components, including>gg> g>Gg>olg>gg>i apparatus; cytoplasmic side of plasma membrane; and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CTCF Gene

CCCTC-binding>gg> factor (zinc fing>gg>er protein)

This g>gg>ene is a member of the BORIS + CTCF g>gg>ene family and encodes a transcriptional reg>gg>ulator protein with 11 hig>gg>hly conserved zinc fing>gg>er (ZF) domains. This nuclear protein is able to use different combinations of the ZF domains to bind different DNA targ>gg>et sequences and proteins. Depending>gg> upon the context of the site, the protein can bind a histone acetyltransferase (HAT)-containing>gg> complex and function as a transcriptional activator or bind a histone deacetylase (HDAC)-containing>gg> complex and function as a transcriptional repressor. If the protein is bound to a transcriptional insulator element, it can block communication between enhancers and upstream promoters, thereby reg>gg>ulating>gg> imprinted expression. Mutations in this g>gg>ene have been associated with invasive breast cancers, prostate cancers, and Wilms' tumors. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2010]

RASg>Gg>RP2 Gene

RAS g>gg>uanyl releasing>gg> protein 2 (calcium and DAg>Gg>-reg>gg>ulated)

The protein encoded by this g>gg>ene is a brain-enriched nucleotide exchang>gg>ed factor that contains an N-terminal g>Gg>EF domain, 2 tandem repeats of EF-hand calcium-binding>gg> motifs, and a C-terminal diacylg>gg>lycerol/phorbol ester-binding>gg> domain. This protein can activate small g>Gg>TPases, including>gg> RAS and RAP1/RAS3. The nucleotide exchang>gg>e activity of this protein can be stimulated by calcium and diacylg>gg>lycerol. Four alternatively spliced transcript variants encoding>gg> two different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jan 2016]

RASg>Gg>RP3 Gene

RAS g>gg>uanyl releasing>gg> protein 3 (calcium and DAg>Gg>-reg>gg>ulated)

The protein encoded by this g>gg>ene is a g>gg>uanine nucleotide exchang>gg>e factor that activates the oncog>gg>enes HRAS and RAP1A. Defects in this g>gg>ene have been associated with systemic lupus erythematosus and several cancers. [provided by RefSeq, Mar 2017]

RASg>Gg>RP1 Gene

RAS g>gg>uanyl releasing>gg> protein 1 (calcium and DAg>Gg>-reg>gg>ulated)

This g>gg>ene is a member of a family of g>gg>enes characterized by the presence of a Ras superfamily g>gg>uanine nucleotide exchang>gg>e factor (g>Gg>EF) domain. It functions as a diacylg>gg>lycerol (DAg>Gg>)-reg>gg>ulated nucleotide exchang>gg>e factor specifically activating>gg> Ras throug>gg>h the exchang>gg>e of bound g>Gg>DP for g>Gg>TP. It activates the Erk/MAP kinase cascade and reg>gg>ulates T-cells and B-cells development, homeostasis and differentiation. Alternatively spliced transcript variants encoding>gg> different isoforms have been identified. Altered expression of the different isoforms of this protein may be a cause of susceptibility to systemic lupus erythematosus (SLE). [provided by RefSeq, Jul 2008]

RASg>Gg>RP4 Gene

RAS g>gg>uanyl releasing>gg> protein 4

The protein encoded by this g>gg>ene is a member of the Ras g>gg>uanyl nucleotide-releasing>gg> protein (Rasg>Gg>RP) family of Ras g>gg>uanine nucleotide exchang>gg>e factors. It contains a Ras exchang>gg>e motif, a diacylg>gg>lycerol-binding>gg> domain, and two calcium-binding>gg> EF hands. This protein was shown to activate H-Ras in a cation-dependent manner in vitro. Expression of this protein in myeloid cell lines was found to be correlated with elevated level of activated RAS protein, and the RAS activation can be g>gg>reatly enhanced by phorbol ester treatment, which sug>gg>g>gg>ested a role of this protein in diacylg>gg>lycerol reg>gg>ulated cell sig>gg>naling>gg> pathways. Studies of a mast cell leukemia cell line expressing>gg> substantial amounts of abnormal transcripts of this g>gg>ene indicated that this g>gg>ene may play an important role in the final stag>gg>es of mast cell development. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Apr 2009]

IFITM5 Gene

interferon induced transmembrane protein 5

This g>gg>ene encodes a membrane protein thoug>gg>ht to play a role in bone mineralization. This g>gg>ene is located on chromosome 11 in a cluster of related g>gg>enes which are induced by interferon, however, this g>gg>ene has not been shown to be interferon inducible. A similar g>gg>ene, located in a g>gg>ene cluster on mouse chromosome 7, is a member of the interferon-inducible frag>gg>ilis g>gg>ene family. The mouse g>gg>ene encodes a transmembrane protein described as participating>gg> in g>gg>erm cell competence. A mutation in the 5' UTR of this g>gg>ene has been associated with osteog>gg>enesis imperfecta type V (PMID: 22863190, 22863195). [provided by RefSeq, Aug>gg> 2012]

LINC01088 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1088

ZNF426 Gene

zinc fing>gg>er protein 426

Kaposi's sarcoma-associated herpesvirus (KSHV) can be reactivated from latency by the viral protein RTA. The protein encoded by this g>gg>ene is a zinc fing>gg>er transcriptional repressor that interacts with RTA to modulate RTA-mediated reactivation of KSHV. While the encoded protein can repress KSHV reactivation, RTA can induce deg>gg>radation of this protein throug>gg>h the ubiquitin-proteasome pathway to overcome the repression. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Dec 2015]

ZNF425 Gene

zinc fing>gg>er protein 425

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of DNA-templated transcription. Located in cytoplasm and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF423 Gene

zinc fing>gg>er protein 423

The protein encoded by this g>gg>ene is a nuclear protein that belong>gg>s to the family of Kruppel-like C2H2 zinc fing>gg>er proteins. It functions as a DNA-binding>gg> transcription factor by using>gg> distinct zinc fing>gg>ers in different sig>gg>naling>gg> pathways. Thus, it is thoug>gg>ht that this g>gg>ene may have multiple roles in sig>gg>nal transduction during>gg> development. Mutations in this g>gg>ene are associated with nephronophthisis-14 and Joubert syndrome-19. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Oct 2012]

ZNF420 Gene

zinc fing>gg>er protein 420

The protein encoded by this g>gg>ene is a KRAB-type zinc fing>gg>er protein that neg>gg>atively-reg>gg>ulates p53-mediated apoptosis. Under stress conditions, the encoded protein is phosphorylated by ATM and dissociates from p53, which activates p53 and initiates apoptosis. [provided by RefSeq, Jul 2016]

ZNF428 Gene

zinc fing>gg>er protein 428

Predicted to enable metal ion binding>gg> activity. Located in mitochondrion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF429 Gene

zinc fing>gg>er protein 429

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC01518 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1518

LINC01519 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1519

ZNF969P Gene

zinc fing>gg>er protein 969, pseudog>gg>ene

LINC01516 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1516

g>Gg>PRIN2 Gene

g>Gg> protein reg>gg>ulated inducer of neurite outg>gg>rowth 2

Predicted to be involved in neuron projection development. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FLJ35816 Gene

FLJ35816 protein

RBMY1J Gene

RNA binding>gg> motif protein, Y-linked, family 1, member J

This g>gg>ene encodes a protein containing>gg> an RNA-binding>gg> motif in the N-terminus and four SRg>Gg>Y (serine, arg>gg>inine, g>gg>lycine, tyrosine) boxes in the C-terminus. This protein likely functions as a splicing>gg> factor during>gg> spermatog>gg>enesis. Multiple closely related paralog>gg>s of this g>gg>ene are found in a g>gg>ene cluster in the AZFb azoospermia factor reg>gg>ion of chromosome Y. Most of these related copies are thoug>gg>ht to be pseudog>gg>enes, thoug>gg>h several likely encode functional proteins. [provided by RefSeq, Mar 2016]

LOC101928145 Gene

PNMA-like protein 2

LINC00391 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 391

LINC00393 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 393

LINC00392 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 392

LINC00395 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 395

ZNF884P Gene

zinc fing>gg>er protein 884, pseudog>gg>ene

LINC00396 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 396

LINC00399 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 399

LINC00398 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 398

LOC100294341 Gene

ADP-ribosylation factor-like protein 17

LOC101927140 Gene

probable ribosome biog>gg>enesis protein RLP24 pseudog>gg>ene

MKRN8P Gene

makorin ring>gg> fing>gg>er protein 8, pseudog>gg>ene

THEg>Gg>5 Gene

testis hig>gg>hly expressed protein 5

FAM25BP Gene

protein FAM25

LOC102723316 Gene

protein FRg>Gg>1-like

THEg>Gg>L Gene

theg>gg> spermatid protein-like

CSRNP1 Gene

cysteine-serine-rich nuclear protein 1

This g>gg>ene encodes a protein that localizes to the nucleus and expression of this g>gg>ene is induced in response to elevated levels of axin. The Wnt sig>gg>nalling>gg> pathway, which is neg>gg>atively reg>gg>ulated by axin, is important in axis formation in early development and impaired reg>gg>ulation of this sig>gg>nalling>gg> pathway is often involved in tumors. A decreased level of expression of this g>gg>ene in tumors compared to the level of expression in their corresponding>gg> normal tissues sug>gg>g>gg>ests that this g>gg>ene product has a tumor suppressor function. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Feb 2016]

CSRNP2 Gene

cysteine-serine-rich nuclear protein 2

The protein encoded by this g>gg>ene belong>gg>s to the CSRNP family of nuclear proteins that share conserved reg>gg>ions, including>gg> cysteine- and serine- rich reg>gg>ions, a basic domain, a transcriptional activation domain, and bind the sequence 'Ag>Gg>Ag>Gg>Tg>Gg>', thus have the hallmark of transcription factors. Studies in mice sug>gg>g>gg>est that these g>gg>enes may have redundant functions. Alternatively spliced transcript variants have been found for this g>gg>ene. [provided by RefSeq, Aug>gg> 2011]

CSRNP3 Gene

cysteine-serine-rich nuclear protein 3

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and sequence-specific DNA binding>gg> activity. Predicted to be involved in positive reg>gg>ulation of apoptotic process and positive reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

BUB3 Gene

BUB3 mitotic checkpoint protein

This g>gg>ene encodes a protein involved in spindle checkpoint function. The encoded protein contains four WD repeat domains and has sequence similarity with the yeast BUB3 protein. Alternate transcriptional splice variants, encoding>gg> different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

NUPR1 Gene

nuclear protein, transcriptional reg>gg>ulator, 1

Enables DNA binding>gg> activity and transcription coactivator activity. Involved in several processes, including>gg> neg>gg>ative reg>gg>ulation of prog>gg>rammed cell death; positive reg>gg>ulation of oxidative phosphorylation; and reg>gg>ulation of catabolic process. Acts upstream of or within neg>gg>ative reg>gg>ulation of cell cycle. Located in intercellular bridg>gg>e; nucleoplasm; and perinuclear reg>gg>ion of cytoplasm. Part of protein-DNA complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NASP Gene

nuclear autoantig>gg>enic sperm protein (histone-binding>gg>)

This g>gg>ene encodes a H1 histone binding>gg> protein that is involved in transporting>gg> histones into the nucleus of dividing>gg> cells. Multiple isoforms are encoded by transcript variants of this g>gg>ene. The somatic form is expressed in all mitotic cells, is localized to the nucleus, and is coupled to the cell cycle. The testicular form is expressed in embryonic tissues, tumor cells, and the testis. In male g>gg>erm cells, this protein is localized to the cytoplasm of primary spermatocytes, the nucleus of spermatids, and the periacrosomal reg>gg>ion of mature spermatozoa. [provided by RefSeq, Jul 2008]

TMEM133 Gene

transmembrane protein 133

There is evidence that this intronless g>gg>ene is transcribed but the protein is predicted. The g>gg>ene function is unknown. [provided by RefSeq, Jul 2008]

TMEM130 Gene

transmembrane protein 130

Located in g>Gg>olg>gg>i apparatus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM131 Gene

transmembrane protein 131

Enables collag>gg>en binding>gg> activity. Involved in collag>gg>en biosynthetic process. Predicted to be active in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM136 Gene

transmembrane protein 136

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM134 Gene

transmembrane protein 134

Located in cytosol and perinuclear reg>gg>ion of cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM135 Gene

transmembrane protein 135

Predicted to be involved in peroxisome org>gg>anization. Predicted to act upstream of or within several processes, including>gg> reg>gg>ulation of oxidative phosphorylation; response to food; and retinal pig>gg>ment epithelium development. Predicted to be located in peroxisome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM138 Gene

transmembrane protein 138

This g>gg>ene encodes a multi-pass transmembrane protein. Reduced expression of this g>gg>ene in mouse fibroblasts causes short cilia and failure of ciliog>gg>enesis. Expression of this g>gg>ene is tig>gg>htly coordinated with expression of the neig>gg>hboring>gg> g>gg>ene TMEM216. Mutations in this g>gg>ene are associated with the autosomal recessive neurodevelopmental disorder Joubert Syndrome. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Mar 2012]

TMEM139 Gene

transmembrane protein 139

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS6KB3 Gene

ribosomal protein S6 kinase, 70kDa, polypeptide 3

LOC105373509 Gene

BBSome-interacting>gg> protein 1-like

RPS27AP6 Gene

ribosomal protein S27a pseudog>gg>ene 6

LOC653513 Gene

phosphodiesterase 4D interacting>gg> protein pseudog>gg>ene

PCAT6 Gene

prostate cancer associated transcript 6 (non-protein coding>gg>)

LOC101929135 Gene

RWD domain-containing>gg> protein 2B pseudog>gg>ene

CDYL Gene

chromodomain protein, Y-like

Chromodomain Y is a primate-specific Y-chromosomal g>gg>ene family expressed exclusively in the testis and implicated in infertility. Althoug>gg>h the Y-linked g>gg>enes are testis-specific, this autosomal g>gg>ene is ubiquitously expressed. The Y-linked g>gg>enes arose by retrotransposition of an mRNA from this g>gg>ene, followed by amplification of the retroposed g>gg>ene. Proteins encoded by this g>gg>ene superfamily possess a chromodomain, a motif implicated in chromatin binding>gg> and g>gg>ene suppression, and a catalytic domain believed to be involved in histone acetylation. Multiple proteins are encoded by transcript variants of this g>gg>ene. [provided by RefSeq, Jul 2008]

MRPS36P4 Gene

mitochondrial ribosomal protein S36 pseudog>gg>ene 4

MRPS36P6 Gene

mitochondrial ribosomal protein S36 pseudog>gg>ene 6

MRPS36P3 Gene

mitochondrial ribosomal protein S36 pseudog>gg>ene 3

MRPS36P2 Gene

mitochondrial ribosomal protein S36 pseudog>gg>ene 2

CDY1 Gene

chromodomain protein, Y-linked, 1

This g>gg>ene encodes a protein containing>gg> a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as g>gg>ene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thoug>gg>ht to facilitate the transition in which protamines replace histones as the major DNA-packag>gg>ing>gg> protein. The human chromosome Y has two identical copies of this g>gg>ene within a palindromic reg>gg>ion; this record represents the more telomeric copy. Chromosome Y also contains a pair of closely related g>gg>enes in another more telomeric palindrome as well as several related pseudog>gg>enes. Two protein isoforms are encoded by transcript variants of this g>gg>ene. Additional transcript variants have been described, but their full-leng>gg>th nature has not been determined. [provided by RefSeq, Jul 2008]

LOC100289097 Gene

protein FRg>Gg>1-like

LOC102723727 Gene

mitog>gg>en-activated protein kinase 7-like

HCg>Gg>4 Gene

HLA complex g>gg>roup 4 (non-protein coding>gg>)

HCg>Gg>9 Gene

HLA complex g>gg>roup 9 (non-protein coding>gg>)

This g>gg>ene lies within the MHC class I reg>gg>ion on chromosome 6p21.3. This g>gg>ene is believed to be non-coding>gg>, but its function has not been determined. [provided by RefSeq, Jul 2009]

AUP1 Gene

ancient ubiquitous protein 1

The protein encoded this g>gg>ene is involved in several pathways including>gg> quality control of misfolded proteins in the endoplasmic reticulum and lipid droplet accumulation. Lipid droplets are org>gg>anelles in the cytoplasm that store neutral lipids such as cholesterol esters and trig>gg>ylycerides to prevent the overabundance of free cholesterol and fatty acids in cells, but also to act as storag>gg>e for other metabolic processes, such as membrane biog>gg>enesis. Reduced expression of this g>gg>ene results in reduced lipid droplet clustering>gg>, a function that is dependent on ubiquitination of the protein. This protein contains multiple domains including>gg> a hydrophobic N-terminal domain, an acetyltranferase domain, a ubiquitin-binding>gg> CUE domain, and a UBE2B2-binding>gg> domain (g>Gg>2BR). Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Nov 2014]

LOC102725209 Gene

putative uncharacterized protein FLJ44672

LOC100421010 Gene

UPF0607 protein ENSP00000381418-like pseudog>gg>ene

g>Gg>EM Gene

g>Gg>TP binding>gg> protein overexpressed in skeletal muscle

The protein encoded by this g>gg>ene belong>gg>s to the RAD/g>Gg>EM family of g>Gg>TP-binding>gg> proteins. It is associated with the inner face of the plasma membrane and could play a role as a reg>gg>ulatory protein in g>receptorg>-mediated sig>gg>nal transduction. Alternative splicing>gg> occurs at this locus and two transcript variants encoding>gg> the same protein have been identified. [provided by RefSeq, Jul 2008]

PHF8 Gene

PHD fing>gg>er protein 8

The protein encoded by this g>gg>ene is a histone lysine demethylase that preferentially acts on histones in the monomethyl or dimethyl states. The encoded protein requires Fe(2+) ion, 2-oxog>gg>lutarate, and oxyg>gg>en for its catalytic activity. The protein has an N-terminal PHD fing>gg>er and a central Jumonji C domain. This g>gg>ene is thoug>gg>ht to function as a transcription activator. Defects in this g>gg>ene are a cause of syndromic X-linked Siderius type intellectual disability (MRXSSD) and over-expression of this g>gg>ene is associated with several forms of cancer. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2017]

PHF6 Gene

PHD fing>gg>er protein 6

This g>gg>ene is a member of the plant homeodomain (PHD)-like fing>gg>er (PHF) family. It encodes a protein with two PHD-type zinc fing>gg>er domains, indicating>gg> a potential role in transcriptional reg>gg>ulation, that localizes to the nucleolus. Mutations affecting>gg> the coding>gg> reg>gg>ion of this g>gg>ene or the splicing>gg> of the transcript have been associated with Borjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by cog>gg>nitive disability, epilepsy, hypog>gg>onadism, hypometabolism, obesity, swelling>gg> of subcutaneous tissue of the face, narrow palpebral fissures, and larg>gg>e ears. Alternate splicing>gg> results in multiple transcript variants, encoding>gg> different isoforms. [provided by RefSeq, Jun 2010]

PHF7 Gene

PHD fing>gg>er protein 7

Spermatog>gg>enesis is a complex process reg>gg>ulated by extracellular and intracellular factors as well as cellular interactions among>gg> interstitial cells of the testis, Sertoli cells, and g>gg>erm cells. This g>gg>ene is expressed in the testis in Sertoli cells but not g>gg>erm cells. The protein encoded by this g>gg>ene contains plant homeodomain (PHD) fing>gg>er domains, also known as leukemia associated protein (LAP) domains, believed to be involved in transcriptional reg>gg>ulation. The protein, which localizes to the nucleus of transfected cells, has been implicated in the transcriptional reg>gg>ulation of spermatog>gg>enesis. Alternate splicing>gg> results in multiple transcript variants of this g>gg>ene. [provided by RefSeq, May 2013]

PHF2 Gene

PHD fing>gg>er protein 2

This g>gg>ene encodes a protein which contains a zinc fing>gg>er-like PHD (plant homeodomain) fing>gg>er, distinct from other classes of zinc fing>gg>er motifs, and a hydrophobic and hig>gg>hly conserved domain. The PHD fing>gg>er shows the typical Cys4-His-Cys3 arrang>gg>ement. PHD fing>gg>er g>gg>enes are thoug>gg>ht to belong>gg> to a diverse g>gg>roup of transcriptional reg>gg>ulators possibly affecting>gg> eukaryotic g>gg>ene expression by influencing>gg> chromatin structure. [provided by RefSeq, Jul 2008]

PHF1 Gene

PHD fing>gg>er protein 1

This g>gg>ene encodes a Polycomb g>gg>roup protein. The protein is a component of a histone H3 lysine-27 (H3K27)-specific methyltransferase complex, and functions in transcriptional repression of homeotic g>gg>enes. The protein is also recruited to double-strand breaks, and reduced protein levels results in X-ray sensitivity and increased homolog>gg>ous recombination. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, May 2009]

SERP2 Gene

stress-associated endoplasmic reticulum protein family member 2

Predicted to be involved in endoplasmic reticulum unfolded protein response. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in endoplasmic reticulum. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL29P8 Gene

ribosomal protein L29 pseudog>gg>ene 8

RPL29P9 Gene

ribosomal protein L29 pseudog>gg>ene 9

RPL29P6 Gene

ribosomal protein L29 pseudog>gg>ene 6

RPL29P7 Gene

ribosomal protein L29 pseudog>gg>ene 7

RPL29P4 Gene

ribosomal protein L29 pseudog>gg>ene 4

RPL29P5 Gene

ribosomal protein L29 pseudog>gg>ene 5

RPL29P2 Gene

ribosomal protein L29 pseudog>gg>ene 2

RPL29P3 Gene

ribosomal protein L29 pseudog>gg>ene 3

RPL29P1 Gene

ribosomal protein L29 pseudog>gg>ene 1

RPL26P9 Gene

ribosomal protein L26 pseudog>gg>ene 9

RPL26P2 Gene

ribosomal protein L26 pseudog>gg>ene 2

RPL26P5 Gene

ribosomal protein L26 pseudog>gg>ene 5

RPL26P4 Gene

ribosomal protein L26 pseudog>gg>ene 4

RPL26P7 Gene

ribosomal protein L26 pseudog>gg>ene 7

RPL26P6 Gene

ribosomal protein L26 pseudog>gg>ene 6

RPS26 Gene

ribosomal protein S26

This g>gg>ene encodes a ribosomal protein that is a component of the 40S subunit. The protein belong>gg>s to the S26E family of ribosomal proteins. Mutations in this g>gg>ene are found in Diamond-Blackfan anemia 10. There are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Aug>gg> 2017]

RPS27 Gene

ribosomal protein S27

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a member of the S27e family of ribosomal proteins and component of the 40S subunit. The encoded protein contains a C4-type zinc fing>gg>er domain that can bind to zinc and may bind to nucleic acid. Mutations in this g>gg>ene have been identified in numerous melanoma patients and in at least one patient with Diamond-Blackfan anemia (DBA). Elevated expression of this g>gg>ene has been observed in various human cancers. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2018]

RPS24 Gene

ribosomal protein S24

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 40S subunit. The protein belong>gg>s to the S24E family of ribosomal proteins. It is located in the cytoplasm. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. Mutations in this g>gg>ene result in Diamond-Blackfan anemia. [provided by RefSeq, Nov 2008]

RPS25 Gene

ribosomal protein S25

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 40S subunit. The protein belong>gg>s to the S25E family of ribosomal proteins. It is located in the cytoplasm. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

RPS23 Gene

ribosomal protein S23

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 40S subunit. The protein belong>gg>s to the S12P family of ribosomal proteins. It is located in the cytoplasm. The protein shares sig>gg>nificant amino acid similarity with S. cerevisiae ribosomal protein S28. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

RPS20 Gene

ribosomal protein S20

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 40S subunit. The protein belong>gg>s to the S10P family of ribosomal proteins. It is located in the cytoplasm. This g>gg>ene is co-transcribed with the small nucleolar RNA g>gg>ene U54, which is located in its second intron. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. Two transcript variants encoding>gg> different isoforms have been identified for this g>gg>ene. [provided by RefSeq, Apr 2009]

RPS21 Gene

ribosomal protein S21

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 40S subunit. The protein belong>gg>s to the S21E family of ribosomal proteins. It is located in the cytoplasm. Alternative splice variants that encode different protein isoforms have been described, but their existence has not been verified. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

RPS28 Gene

ribosomal protein S28

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 40S subunit. The protein belong>gg>s to the S28E family of ribosomal proteins. It is located in the cytoplasm. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

RPS29 Gene

ribosomal protein S29

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 40S subunit and a member of the S14P family of ribosomal proteins. The protein, which contains a C2-C2 zinc fing>gg>er-like domain that can bind to zinc, can enhance the tumor suppressor activity of Ras-related protein 1A (KREV1). It is located in the cytoplasm. Variable expression of this g>gg>ene in colorectal cancers compared to adjacent normal tissues has been observed, althoug>gg>h no correlation between the level of expression and the severity of the disease has been found. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Mar 2013]

CHMP1A Gene

charg>gg>ed multivesicular body protein 1A

This g>gg>ene encodes a member of the CHMP/Chmp family of proteins which are involved in multivesicular body sorting>gg> of proteins to the interiors of lysosomes. The initial prediction of the protein sequence encoded by this g>gg>ene sug>gg>g>gg>ested that the encoded protein was a metallopeptidase. The nomenclature has been updated recently to reflect the correct biolog>gg>ical function of this encoded protein. Several transcripts encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Dec 2012]

LOC100286958 Gene

transmembrane protein 183A pseudog>gg>ene

RPL31P19 Gene

ribosomal protein L31 pseudog>gg>ene 19

RPL31P18 Gene

ribosomal protein L31 pseudog>gg>ene 18

RPL31P11 Gene

ribosomal protein L31 pseudog>gg>ene 11

RPL31P10 Gene

ribosomal protein L31 pseudog>gg>ene 10

RPL31P12 Gene

ribosomal protein L31 pseudog>gg>ene 12

RPL31P15 Gene

ribosomal protein L31 pseudog>gg>ene 15

RPL31P14 Gene

ribosomal protein L31 pseudog>gg>ene 14

RPL31P17 Gene

ribosomal protein L31 pseudog>gg>ene 17

RPL31P16 Gene

ribosomal protein L31 pseudog>gg>ene 16

LINC00152 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 152

This g>gg>ene produces a long>gg> non-coding>gg> RNA that is overexpressed in cancer cells and promotes cell proliferation and epithelial-mesenchymal transition. This RNA may bind enhancer of zeste homolog>gg> 2 and participate in the transcriptional silencing>gg> of tumor suppressor g>gg>enes. It may act as a spong>gg>e for microRNAs. Alternatively spliced variants have been observed. [provided by RefSeq, Dec 2017]

NOSIP Gene

nitric oxide synthase interacting>gg> protein

The protein encoded by this g>gg>ene may modulate the activity and localization of nitric oxide synthase (endothelial and neuronal) and thus nitric oxide production. Alternative splicing>gg> results in multiple transcript variants that encode the same protein. [provided by RefSeq, Aug>gg> 2012]

LINC00159 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 159

LINC00158 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 158

HAg>Gg>LROS Gene

HAg>Gg>LR opposite strand (non-protein coding>gg>)

ZFP14 Gene

ZFP14 zinc fing>gg>er protein

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to act upstream of or within blastocyst hatching>gg>. Predicted to be located in membrane. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00845 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 845

LINC00844 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 844

LINC00841 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 841

LINC00840 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 840

LINC00843 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 843

LINC00842 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 842

TMEFF1 Gene

transmembrane protein with Eg>Gg>F-like and two follistatin-like domains 1

Enables g>receptorg> lig>gg>and inhibitor activity. Involved in neg>gg>ative reg>gg>ulation of viral entry into host cell. Is active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEFF2 Gene

transmembrane protein with Eg>Gg>F-like and two follistatin-like domains 2

This g>gg>ene encodes a member of the tomoreg>gg>ulin family of transmembrane proteins. This protein has been shown to function as both an oncog>gg>ene and a tumor suppressor depending>gg> on the cellular context and may reg>gg>ulate prostate cancer cell invasion. Multiple soluble forms of this protein have been identified that arise from both an alternative splice variant and ectodomain shedding>gg>. Additionally, this g>gg>ene has been found to be hypermethylated in multiple cancer types. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Feb 2015]

LOC728743 Gene

zinc fing>gg>er protein pseudog>gg>ene

STAMBP Gene

STAM binding>gg> protein

Cytokine-mediated sig>gg>nal transduction in the JAK-STAT cascade requires the involvement of adaptor molecules. One such sig>gg>nal-transducing>gg> adaptor molecule contains an SH3 domain that is required for induction of MYC and cell g>gg>rowth. The protein encoded by this g>gg>ene binds to the SH3 domain of the sig>gg>nal-transducing>gg> adaptor molecule, and plays a critical role in cytokine-mediated sig>gg>naling>gg> for MYC induction and cell cycle prog>gg>ression. Multiple alternatively spliced transcript variants encoding>gg> the same protein isoform have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

RBBP4P4 Gene

retinoblastoma binding>gg> protein 4 pseudog>gg>ene 4

LOC100128713 Gene

zinc fing>gg>er protein 816A pseudog>gg>ene

CNTLN Gene

centlein, centrosomal protein

Enables protein domain specific binding>gg> activity; protein kinase binding>gg> activity; and protein-macromolecule adaptor activity. Involved in centriole-centriole cohesion and protein localization to org>gg>anelle. Located in cytosol; microtubule org>gg>anizing>gg> center; and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

EMP2 Gene

epithelial membrane protein 2

This g>gg>ene encodes a tetraspan protein of the PMP22/EMP family. The encoded protein reg>gg>ulates cell membrane composition. It has been associated with various functions including>gg> endocytosis, cell sig>gg>naling>gg>, cell proliferation, cell mig>gg>ration, cell adhesion, cell death, cholesterol homeostasis, urinary albumin excretion, and embryo implantation. It is known to neg>gg>atively reg>gg>ulate caveolin-1, a scaffolding>gg> protein which is the main component of the caveolae plasma membrane invag>gg>inations found in most cell types. Throug>gg>h activation of PTK2 it positively reg>gg>ulates vascular endothelial g>gg>rowth factor A. It also modulates the function of specific integ>gg>rin isomers in the plasma membrane. Up-reg>gg>ulation of this g>gg>ene has been linked to cancer prog>gg>ression in multiple different tissues. Mutations in this g>gg>ene have been associated with nephrotic syndrome type 10 (NPHS10). [provided by RefSeq, Mar 2015]

EMP3 Gene

epithelial membrane protein 3

The protein encoded by this g>gg>ene belong>gg>s to the PMP-22/EMP/MP20 family of proteins. The protein contains four transmembrane domains and two N-linked g>gg>lycosylation sites. It is thoug>gg>ht to be involved in cell proliferation, cell-cell interactions and function as a tumor suppressor. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Sep 2015]

EMP1 Gene

epithelial membrane protein 1

Involved in apoptotic process and bleb assembly. Located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

VHL Gene

von Hippel-Lindau tumor suppressor, E3 ubiquitin protein lig>gg>ase

This g>gg>ene encodes a component of a ubiquitination complex. The encoded protein is involved in the ubiquitination and deg>gg>radation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the reg>gg>ulation of g>gg>ene expression by oxyg>gg>en. In addition to oxyg>gg>en-related g>gg>ene expression, this protein plays a role in many other cellular processes including>gg> cilia formation, cytokine sig>gg>naling>gg>, reg>gg>ulation of senescence, and formation of the extracellular matrix. Variants of this g>gg>ene are associated with von Hippel-Lindau syndrome, pheochromocytoma, erythrocytosis, renal cell carcinoma, and cerebellar hemang>gg>ioblastoma. [provided by RefSeq, Jun 2022]

LOC100506578 Gene

uncharacterized protein C12orf71-like

RPS21P4 Gene

ribosomal protein S21 pseudog>gg>ene 4

RANBP3L Gene

RAN binding>gg> protein 3-like

Enables SMAD binding>gg> activity. Predicted to be involved in several processes, including>gg> mesenchymal cell differentiation involved in bone development; neg>gg>ative reg>gg>ulation of osteoblast differentiation; and protein export from nucleus. Predicted to be located in nucleus. Predicted to be part of nuclear pore. Predicted to be active in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CEBPZ Gene

CCAAT/enhancer binding>gg> protein (C/EBP), zeta

This g>gg>ene belong>gg>s to the CBF/Mak21 family. The encoded protein plays a role in cellular response to environmental stimuli throug>gg>h a transcriptional process that involves heat shock factors, conserved DNA elements (heat shock elements or HSEs) and CCAAT boxes. The protein acts as a DNA-binding>gg> transcriptional activator and reg>gg>ulates the heat-shock protein 70 (HSP70) promoter in a CCAAT-dependent manner. The protein is also involved in cell g>gg>rowth and differentiation, particularly, hematopoietic differentiation. [provided by RefSeq, Nov 2020]

LOC105372267 Gene

nuclear factor interleukin-3-reg>gg>ulated protein-like

Predicted to enable DNA binding>gg> activity and DNA-binding>gg> transcription factor activity. Predicted to be involved in circadian rhythm and reg>gg>ulation of DNA-templated transcription. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

APBB1 Gene

amyloid beta (A4) precursor protein-binding>gg>, family B, member 1 (Fe65)

The protein encoded by this g>gg>ene is a member of the Fe65 protein family. It is an adaptor protein localized in the nucleus. It interacts with the Alzheimer's disease amyloid precursor protein (APP), transcription factor CP2/LSF/LBP1 and the low-density lipoprotein g>receptorg>-related protein. APP functions as a cytosolic anchoring>gg> site that can prevent the g>gg>ene product's nuclear translocation. This encoded protein could play an important role in the pathog>gg>enesis of Alzheimer's disease. It is thoug>gg>ht to reg>gg>ulate transcription. Also it is observed to block cell cycle prog>gg>ression by downreg>gg>ulating>gg> thymidylate synthase expression. Multiple alternatively spliced transcript variants encoding>gg> different isoforms have been described for this g>gg>ene. [provided by RefSeq, Mar 2012]

APBB2 Gene

amyloid beta (A4) precursor protein-binding>gg>, family B, member 2

The protein encoded by this g>gg>ene interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and amyloid beta (A4) precursor-like protein 2. This protein contains two phosphotyrosine binding>gg> (PTB) domains, which are thoug>gg>ht to function in sig>gg>nal transduction. Polymorphisms in this g>gg>ene have been associated with Alzheimer's disease. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Oct 2009]

APBB3 Gene

amyloid beta (A4) precursor protein-binding>gg>, family B, member 3

The protein encoded by this g>gg>ene is a member of the APBB protein family. It is found in the cytoplasm and binds to the intracellular domain of the Alzheimer's disease beta-amyloid precursor protein (APP) as well as to other APP-like proteins. It is thoug>gg>ht that the protein encoded by this g>gg>ene may modulate the internalization of APP. Multiple transcript variants encoding>gg> several different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

LINC01495 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1495

LINC01494 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1494

LINC01497 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1497

LINC01496 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1496

MRPL11P3 Gene

mitochondrial ribosomal protein L11 pseudog>gg>ene 3

MRPL11P2 Gene

mitochondrial ribosomal protein L11 pseudog>gg>ene 2

LINC01493 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1493

LINC01492 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1492

LINC01498 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1498

SMR3B Gene

submaxillary g>gg>land androg>gg>en reg>gg>ulated protein 3B

Predicted to enable endopeptidase inhibitor activity. Predicted to be involved in cellular response to lipopolysaccharide; neg>gg>ative reg>gg>ulation of peptidase activity; and reg>gg>ulation of sensory perception of pain. Located in extracellular exosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMR3A Gene

submaxillary g>gg>land androg>gg>en reg>gg>ulated protein 3A

Predicted to enable endopeptidase inhibitor activity. Predicted to be involved in reg>gg>ulation of sensory perception of pain. Predicted to be located in extracellular reg>gg>ion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC102725104 Gene

coiled-coil domain-containing>gg> protein 29-like

LOC100196944 Gene

CD2 (cytoplasmic tail) binding>gg> protein 2 pseudog>gg>ene

ZNF735 Gene

zinc fing>gg>er protein 735

This g>gg>ene encodes a kruppel-associated box-containing>gg> zinc fing>gg>er protein (KRAB-ZFP). The encoded protein contains an N-terminal kruppel-associated box (KRAB) domain and nine C-terminal C2H2-type zinc fing>gg>er domains. The KRAB-ZFPs represent the larg>gg>est family of mammalian transcriptional repressors, which function throug>gg>h the recruitment of the nuclear co-factor KRAB-Associated Protein 1 (KAP1), to eng>gg>ag>gg>e histone modifiers and induce heterochromatin formation. [provided by RefSeq, Jul 2017]

LOC100420499 Gene

BAI1-associated protein 2-like 1 pseudog>gg>ene

TAF13P2 Gene

TAF13 RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor, 18kDa pseudog>gg>ene 2

TAF13P1 Gene

TAF13 RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor pseudog>gg>ene 1

SMCO4P1 Gene

sing>gg>le-pass membrane protein with coiled-coil domains 4 pseudog>gg>ene 1

XIST Gene

X inactive specific transcript (non-protein coding>gg>)

X inactivation is an early developmental process in mammalian females that transcriptionally silences one of the pair of X chromosomes, thus providing>gg> dosag>gg>e equivalence between males and females. The process is reg>gg>ulated by several factors, including>gg> a reg>gg>ion of chromosome X called the X inactivation center (XIC). The XIC comprises several non-coding>gg> and protein-coding>gg> g>gg>enes, and this g>gg>ene was the first non-coding>gg> g>gg>ene identified within the XIC. This g>gg>ene is expressed exclusively from the XIC of the inactive X chromosome, and is essential for the initiation and spread of X-inactivation. The transcript is a spliced RNA. Alternatively spliced transcript variants have been identified, but their full leng>gg>th sequences have not been determined. Mutations in the XIST promoter cause familial skewed X inactivation. [provided by RefSeq, Apr 2012]

ZNF92P2 Gene

zinc fing>gg>er protein 92 pseudog>gg>ene 2

ZNF92P3 Gene

zinc fing>gg>er protein 92 pseudog>gg>ene 3

RPSAP41 Gene

ribosomal protein SA pseudog>gg>ene 41

ERICD Gene

E2F1-reg>gg>ulated inhibitor of cell death (non-protein coding>gg>)

LOC100131689 Gene

pumilio domain-containing>gg> protein KIAA0020-like

LINC00458 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 458

LINC00459 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 459

LINC00452 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 452

LINC00456 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 456

LINC00457 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 457

LINC00454 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 454

CCNDBP1 Gene

cyclin D-type binding>gg>-protein 1

This g>gg>ene was identified by the interaction of its g>gg>ene product with g>Gg>rap2, a leukocyte-specific adaptor protein important for immune cell sig>gg>naling>gg>. The protein encoded by this g>gg>ene was shown to interact with cyclin D. Transfection of this g>gg>ene in cells was reported to reduce the phosphorylation of Rb g>gg>ene product by cyclin D-dependent protein kinase, and inhibit E2F1-mediated transcription activity. This protein was also found to interact with helix-loop-helix protein E12 and is thoug>gg>ht to be a neg>gg>ative reg>gg>ulator of liver-specific g>gg>ene expression. Several alternatively spliced variants have been found for this g>gg>ene. [provided by RefSeq, Apr 2009]

MRPL45P1 Gene

mitochondrial ribosomal protein L45 pseudog>gg>ene 1

MRPL45P2 Gene

mitochondrial ribosomal protein L45 pseudog>gg>ene 2

RBMY2WP Gene

RNA binding>gg> motif protein, Y-linked, family 2, member W pseudog>gg>ene

RPLP1P12 Gene

ribosomal protein, larg>gg>e, P1 pseudog>gg>ene 12

RPLP1P13 Gene

ribosomal protein, larg>gg>e, P1 pseudog>gg>ene 13

RPLP1P10 Gene

ribosomal protein, larg>gg>e, P1 pseudog>gg>ene 10

RPLP1P11 Gene

ribosomal protein, larg>gg>e, P1 pseudog>gg>ene 11

KRTCAP2 Gene

keratinocyte associated protein 2

Enables enzyme activator activity. Involved in protein N-linked g>gg>lycosylation. Part of olig>gg>osaccharyltransferase complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTCAP3 Gene

keratinocyte associated protein 3

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105376335 Gene

basic proline-rich protein-like

LOC100996792 Gene

dual specificity mitog>gg>en-activated protein kinase kinase 3

RPS6P11 Gene

ribosomal protein S6 pseudog>gg>ene 11

RPS5P2 Gene

ribosomal protein S5 pseudog>gg>ene 2

RPS6P10 Gene

ribosomal protein S6 pseudog>gg>ene 10

LOC105376333 Gene

formin-like protein 6

PRMT2 Gene

protein arg>gg>inine methyltransferase 2

Enables several functions, including>gg> nuclear g>receptorg> binding>gg> activity; peroxisome proliferator activated g>receptorg> binding>gg> activity; and protein homodimerization activity. Involved in positive reg>gg>ulation of apoptotic process; reg>gg>ulation of DNA-templated transcription; and reg>gg>ulation of androg>gg>en g>receptorg> sig>gg>naling>gg> pathway. Located in cytosol and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS6P18 Gene

ribosomal protein S6 pseudog>gg>ene 18

ZNF219 Gene

zinc fing>gg>er protein 219

This g>gg>ene is a member of the Kruppel-like zinc fing>gg>er g>gg>ene family. The encoded protein functions as a transcriptional repressor of the hig>gg>h mobility g>gg>roup nucleosome binding>gg> domain 1 protein, which is associated with transcriptionally active chromatin. [provided by RefSeq, Apr 2017]

LOC646197 Gene

heat shock protein 90kDa alpha (cytosolic), class B member 1 pseudog>gg>ene

LOC100132330 Gene

mal, T-cell differentiation protein-like pseudog>gg>ene

PSKH2 Gene

protein serine kinase H2

Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in sig>gg>nal transduction. Predicted to be active in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PSKH1 Gene

protein serine kinase H1

Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in sig>gg>nal transduction. Predicted to act upstream of or within determination of left/rig>gg>ht symmetry; heart development; and protein phosphorylation. Located in cytosol and nuclear speck. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC101930090 Gene

contactin-associated protein-like 3B

LOC731631 Gene

putative uncharacterized protein FLJ44672

RPL39P13 Gene

ribosomal protein L39 pseudog>gg>ene 13

PEBP1 Gene

phosphatidylethanolamine binding>gg> protein 1

This g>gg>ene encodes a member of the phosphatidylethanolamine-binding>gg> family of proteins and has been shown to modulate multiple sig>gg>naling>gg> pathways, including>gg> the MAP kinase (MAPK), NF-kappa B, and g>gg>lycog>gg>en synthase kinase-3 (g>Gg>SK-3) sig>gg>naling>gg> pathways. The encoded protein can be further processed to form a smaller cleavag>gg>e product, hippocampal cholinerg>gg>ic neurostimulating>gg> peptide (HCNP), which may be involved in neural development. This g>gg>ene has been implicated in numerous human cancers and may act as a metastasis suppressor g>gg>ene. Multiple pseudog>gg>enes of this g>gg>ene have been identified in the g>gg>enome. [provided by RefSeq, Jul 2015]

PEBP4 Gene

phosphatidylethanolamine-binding>gg> protein 4

The phosphatidylethanolamine (PE)-binding>gg> proteins, including>gg> PEBP4, are an evolutionarily conserved family of proteins with pivotal biolog>gg>ic functions, such as lipid binding>gg> and inhibition of serine proteases (Wang>gg> et al., 2004 [PubMed 15302887]).[supplied by OMIM, Dec 2008]

RPL39P18 Gene

ribosomal protein L39 pseudog>gg>ene 18

LOC100419673 Gene

PHD fing>gg>er protein 10 pseudog>gg>ene

CEP192 Gene

centrosomal protein 192kDa

Enables phosphatase binding>gg> activity. Involved in centrosome-templated microtubule nucleation; mitotic spindle assembly; and protein localization to centrosome. Located in centriole and centrosome. Part of procentriole and procentriole replication complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100419853 Gene

transmembrane protein 69 pseudog>gg>ene

HTATIP2 Gene

HIV-1 Tat interactive protein 2, 30kDa

Enables protein serine/threonine kinase activity. Involved in import into nucleus and reg>gg>ulation of ang>gg>iog>gg>enesis. Acts upstream of or within positive reg>gg>ulation of prog>gg>rammed cell death; positive reg>gg>ulation of transcription by RNA polymerase II; and protein autophosphorylation. Located in cytosol and nuclear envelope. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SLX4IP Gene

SLX4 interacting>gg> protein

LOC100289117 Gene

ubiquitin A-52 residue ribosomal protein fusion product 1 pseudog>gg>ene

PPP1R12BP1 Gene

protein phosphatase 1, reg>gg>ulatory subunit 12B pseudog>gg>ene, Y-linked 1

PPP1R12BP2 Gene

protein phosphatase 1, reg>gg>ulatory subunit 12B Y-linked pseudog>gg>ene 2

LOC100129949 Gene

protein RCC2-like

RSC1A1 Gene

reg>gg>ulatory solute carrier protein, family 1, member 1

The protein encoded by this intronless g>gg>ene inhibits the expression of the solute carrier family 5 (sodium/g>gg>lucose cotransporter), member 1 g>gg>ene (SLC5A1) and downreg>gg>ulates exocytosis of the SLC5A1 protein. The encoded protein is sometimes found coating>gg> the trans-g>Gg>olg>gg>i network and other times is localized to the nucleus, depending>gg> on the cell cycle stag>gg>e. This protein also inhibits the expression of solute carrier family 22 (org>gg>anic cation transporter), member 2 (SLC22A2). [provided by RefSeq, Dec 2015]

LOC105371788 Gene

leucine-rich repeat-containing>gg> protein 37B-like

g>Gg>NL3L Gene

g>gg>uanine nucleotide binding>gg> protein-like 3 (nucleolar)-like

The protein encoded by this g>gg>ene appears to be a nucleolar g>Gg>TPase that is essential for ribosomal pre-rRNA processing>gg> and cell proliferation. Two transcript variants encoding>gg> the same protein have been found for this g>gg>ene. [provided by RefSeq, May 2010]

LOC100996361 Gene

ribosomal protein S6 kinase, 70kDa, polypeptide 1 pseudog>gg>ene

CLASRP Gene

CLK4-associating>gg> serine/arg>gg>inine rich protein

Predicted to be involved in RNA splicing>gg> and mRNA processing>gg>. Located in nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CKS2 Gene

CDC28 protein kinase reg>gg>ulatory subunit 2

CKS2 protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biolog>gg>ical function. The CKS2 mRNA is found to be expressed in different patterns throug>gg>h the cell cycle in HeLa cells, which reflects specialized role for the encoded protein. [provided by RefSeq, Jul 2008]

LINC00954 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 954

LOC100130854 Gene

zinc fing>gg>er protein 562 pseudog>gg>ene

MRPS16 Gene

mitochondrial ribosomal protein S16

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 28S subunit protein that belong>gg>s to the ribosomal protein S16P family. The encoded protein is one of the most hig>gg>hly conserved ribosomal proteins between mammalian and yeast mitochondria. Three pseudog>gg>enes (located at 8q21.3, 20q13.32, 22q12-q13.1) for this g>gg>ene have been described. [provided by RefSeq, Jul 2008]

MRPS15 Gene

mitochondrial ribosomal protein S15

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 28S subunit protein that belong>gg>s to the ribosomal protein S15P family. The encoded protein is more than two times the size of its E. coli counterpart, with the 12S rRNA binding>gg> sites conserved. Between human and mouse, the encoded protein is the least conserved among>gg> small subunit ribosomal proteins. Pseudog>gg>enes corresponding>gg> to this g>gg>ene are found on chromosomes 15q and 19q. [provided by RefSeq, Jul 2008]

MRPS14 Gene

mitochondrial ribosomal protein S14

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 28S subunit protein that belong>gg>s to the ribosomal protein S14P family. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Nov 2010]

MRPS12 Gene

mitochondrial ribosomal protein S12

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 28S subunit protein that belong>gg>s to the ribosomal protein S12P family. The encoded protein is a key component of the ribosomal small subunit and controls the decoding>gg> fidelity and susceptibility to aminog>gg>lycoside antibiotics. The g>gg>ene for mitochondrial seryl-tRNA synthetase is located upstream and adjacent to this g>gg>ene, and both g>gg>enes are possible candidates for the autosomal dominant deafness g>gg>ene (DFNA4). Splice variants that differ in the 5' UTR have been found for this g>gg>ene; all three variants encode the same protein. [provided by RefSeq, Jul 2008]

MRPS11 Gene

mitochondrial ribosomal protein S11

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 28S subunit protein that contains a hig>gg>h level of sequence similarity with ribosomal protein S11P family members. A pseudog>gg>ene corresponding>gg> to this g>gg>ene is found on chromosome 20. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Apr 2016]

MRPS10 Gene

mitochondrial ribosomal protein S10

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 28S subunit protein that belong>gg>s to the ribosomal protein S10P family. Pseudog>gg>enes corresponding>gg> to this g>gg>ene are found on chromosomes 1q, 3p, and 9p. [provided by RefSeq, Jul 2008]

LOC100131107 Gene

putative UPF0607 protein ENSP00000383783

CASP8AP2 Gene

caspase 8 associated protein 2

This protein is hig>gg>hly similar to FLASH, a mouse apoptotic protein identified by its interaction with the death-effector domain (DED) of caspase 8. Studies of FLASH protein sug>gg>g>gg>ested that this protein may be a component of the death-inducing>gg> sig>gg>naling>gg> complex that includes Fas g>receptorg>, Fas-binding>gg> adapter FADD, and caspase 8, and plays a reg>gg>ulatory role in Fas-mediated apoptosis. Alternative splicing>gg> results in multiple transcript variants encoding>gg> the same protein.[provided by RefSeq, Nov 2008]

LOC100419686 Gene

zinc fing>gg>er protein 256 pseudog>gg>ene

LOC100419685 Gene

zinc fing>gg>er protein 555 pseudog>gg>ene

LOC100419684 Gene

zinc fing>gg>er protein 114 pseudog>gg>ene

LOC100419680 Gene

zinc fing>gg>er protein 430 pseudog>gg>ene

ZFPM2 Gene

zinc fing>gg>er protein, FOg>Gg> family member 2

The zinc fing>gg>er protein encoded by this g>gg>ene is a widely expressed member of the FOg>Gg> family of transcription factors. The family members modulate the activity of g>Gg>ATA family proteins, which are important reg>gg>ulators of hematopoiesis and cardiog>gg>enesis in mammals. It has been demonstrated that the protein can both activate and down-reg>gg>ulate expression of g>Gg>ATA-targ>gg>et g>gg>enes, sug>gg>g>gg>esting>gg> different modulation in different promoter contexts. A related mRNA sug>gg>g>gg>ests an alternatively spliced product but this information is not yet fully supported by the sequence. [provided by RefSeq, Jul 2008]

ZNF271P Gene

zinc fing>gg>er protein 271, pseudog>gg>ene

Zinc fing>gg>er proteins interact with nucleic acids and have diverse functions. The zinc fing>gg>er domain is a conserved amino acid sequence motif containing>gg> 2 specifically positioned cysteines and 2 histidines that are involved in coordinating>gg> zinc. Kruppel-related proteins form 1 family of zinc fing>gg>er proteins. See ZFP93 (MIM 604749) for additional information on zinc fing>gg>er proteins.[supplied by OMIM, Apr 2004]

B9D1 Gene

B9 protein domain 1

This g>gg>ene encodes a B9 domain-containing>gg> protein, one of several that are involved in ciliog>gg>enesis. Alterations in expression of this g>gg>ene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different g>gg>enes. This g>gg>ene is located within the Smith-Mag>gg>enis syndrome reg>gg>ion on chromosome 17. [provided by RefSeq, Mar 2016]

LINC01128 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1128

LINC01125 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1125

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC01124 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1124

LINC01126 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1126

LINC01121 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1121

LINC01120 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1120

LINC01123 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1123

LINC01122 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1122

ZNF519P1 Gene

zinc fing>gg>er protein 519 pseudog>gg>ene 1

ZNF519P2 Gene

zinc fing>gg>er protein 519 pseudog>gg>ene 2

LINC00298 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 298

LINC00299 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 299

LINC00294 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 294

LINC00297 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 297

LINC00293 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 293

RPL7L1P8 Gene

ribosomal protein L7-like 1 pseudog>gg>ene 8

RPL7L1P9 Gene

ribosomal protein L7-like 1 pseudog>gg>ene 9

RPL7L1P1 Gene

ribosomal protein L7-like 1 pseudog>gg>ene 1

RPL7L1P2 Gene

ribosomal protein L7-like 1 pseudog>gg>ene 2

RPL7L1P3 Gene

ribosomal protein L7-like 1 pseudog>gg>ene 3

MBP Gene

myelin basic protein

The protein encoded by the classic MBP g>gg>ene is a major constituent of the myelin sheath of olig>gg>odendrocytes and Schwann cells in the nervous system. However, MBP-related transcripts are also present in the bone marrow and the immune system. These mRNAs arise from the long>gg> MBP g>gg>ene (otherwise called `g>Gg>olli-MBP`) that contains 3 additional exons located upstream of the classic MBP exons. Alternative splicing>gg> from the g>Gg>olli and the MBP transcription start sites g>gg>ives rise to 2 sets of MBP-related transcripts and g>gg>ene products. The g>Gg>olli mRNAs contain 3 exons unique to g>Gg>olli-MBP, spliced in-frame to 1 or more MBP exons. They encode hybrid proteins that have N-terminal g>Gg>olli aa sequence linked to MBP aa sequence. The second family of transcripts contain only MBP exons and produce the well characterized myelin basic proteins. This complex g>gg>ene structure is conserved among>gg> species sug>gg>g>gg>esting>gg> that the MBP transcription unit is an integ>gg>ral part of the g>Gg>olli transcription unit and that this arrang>gg>ement is important for the function and/or reg>gg>ulation of these g>gg>enes. [provided by RefSeq, Jul 2008]

RPL7L1P5 Gene

ribosomal protein L7-like 1 pseudog>gg>ene 5

RPL7L1P6 Gene

ribosomal protein L7-like 1 pseudog>gg>ene 6

RPL7L1P7 Gene

ribosomal protein L7-like 1 pseudog>gg>ene 7

LOC100124334 Gene

Y box binding>gg> protein 2 pseudog>gg>ene

RPLP0P11 Gene

ribosomal protein, larg>gg>e, P0 pseudog>gg>ene 11

TAF7L Gene

TAF7-like RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor, 50kDa

This g>gg>ene is similar to a mouse g>gg>ene that encodes a TATA box binding>gg> protein-associated factor, and shows testis-specific expression. The encoded protein could be a spermatog>gg>enesis-specific component of the DNA-binding>gg> g>gg>eneral transcription factor complex TFIID. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Dec 2009]

LINC00364 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 364

CKAP2 Gene

cytoskeleton associated protein 2

This g>gg>ene encodes a cytoskeleton-associated protein that stabalizes microtubules and plays a role in the reg>gg>ulation of cell division. The encoded protein is itself reg>gg>ulated throug>gg>h phosphorylation at multiple serine and threonine residues. There is a pseudog>gg>ene of this g>gg>ene on chromosome 14. Alternative splicing>gg> results in multiple transcript variations. [provided by RefSeq, Nov 2013]

CKAP4 Gene

cytoskeleton-associated protein 4

Enables RNA binding>gg> activity. Located in lipid droplet and roug>gg>h endoplasmic reticulum. Biomarker of hepatocellular carcinoma. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CKAP5 Gene

cytoskeleton associated protein 5

This g>gg>ene encodes a cytoskeleton-associated protein which belong>gg>s to the TOg>Gg>/XMAP215 family. The N-terminal half of this protein contains a microtubule-binding>gg> domain and the C-terminal half contains a KXg>Gg>S motif for binding>gg> tubulin dimers. This protein has two distinct roles in spindle formation; it protects kinetochore microtubules from depolymerization and plays an essential role in centrosomal microtubule assembly. This protein may be necessary for the proper interaction of microtubules with the cell cortex for directional cell movement. It also plays a role in translation of the myelin basic protein (MBP) mRNA by interacting>gg> with heterog>gg>eneous nuclear ribonucleoprotein (hnRNP) A2, which associates with MBP. Alternatively spliced transcript variants encoding>gg> different isoforms have been identified. [provided by RefSeq, Aug>gg> 2011]

ITSN1 Gene

intersectin 1 (SH3 domain protein)

The protein encoded by this g>gg>ene is a cytoplasmic membrane-associated protein that indirectly coordinates endocytic membrane traffic with the actin assembly machinery. In addition, the encoded protein may reg>gg>ulate the formation of clathrin-coated vesicles and could be involved in synaptic vesicle recycling>gg>. This protein has been shown to interact with dynamin, CDC42, SNAP23, SNAP25, SPIN90, EPS15, EPN1, EPN2, and STN2. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene, but the full-leng>gg>th nature of only two of them have been characterized so far. [provided by RefSeq, Jul 2008]

PHF5HP Gene

PHD fing>gg>er protein 5H pseudog>gg>ene

LOC441455 Gene

makorin ring>gg> fing>gg>er protein 1 pseudog>gg>ene

AFAP1L1 Gene

actin filament associated protein 1-like 1

Predicted to be located in several cellular components, including>gg> actin cytoskeleton; anchoring>gg> junction; and cell projection. Predicted to be active in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

AFAP1L2 Gene

actin filament associated protein 1-like 2

Enables SH2 domain binding>gg> activity; SH3 domain binding>gg> activity; and protein tyrosine kinase activator activity. Involved in several processes, including>gg> positive reg>gg>ulation of epidermal g>gg>rowth factor g>receptorg> sig>gg>naling>gg> pathway; reg>gg>ulation of g>gg>ene expression; and reg>gg>ulation of mitotic cell cycle. Located in cytosol and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PCMT1 Gene

protein-L-isoaspartate (D-aspartate) O-methyltransferase

This g>gg>ene encodes a member of the type II class of protein carboxyl methyltransferase enzymes. The encoded enzyme plays a role in protein repair by recog>gg>nizing>gg> and converting>gg> D-aspartyl and L-isoaspartyl residues resulting>gg> from spontaneous deamidation back to the normal L-aspartyl form. The encoded protein may play a protective role in the pathog>gg>enesis of Alzheimer's disease, and sing>gg>le nucleotide polymorphisms in this g>gg>ene have been associated with spina bifida and premature ovarian failure. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Oct 2011]

TMEM50B Gene

transmembrane protein 50B

Predicted to be involved in late endosome to vacuole transport via multivesicular body sorting>gg> pathway. Located in endoplasmic reticulum. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM50A Gene

transmembrane protein 50A

This g>gg>ene is located in the RH g>gg>ene locus, between the RHD and RHCE g>gg>enes. The function of its protein product is unknown; however, its sequence has potential transmembrane domains sug>gg>g>gg>esting>gg> that it may be an integ>gg>ral membrane protein. Its position between the RH g>gg>enes sug>gg>g>gg>ests that polymorphisms in this g>gg>ene may be tig>gg>htly linked to RH haplotypes and may contribute to selective pressure for or ag>gg>ainst certain RH haplotypes. [provided by RefSeq, Jul 2008]

ZNF355P Gene

zinc fing>gg>er protein 355, pseudog>gg>ene

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>CSHP2 Gene

g>gg>lycine cleavag>gg>e system protein H (aminomethyl carrier) pseudog>gg>ene 2

TMED7 Gene

transmembrane emp24 protein transport domain containing>gg> 7

Predicted to be involved in g>Gg>olg>gg>i org>gg>anization; endoplasmic reticulum to g>Gg>olg>gg>i vesicle-mediated transport; and intracellular protein transport. Located in g>Gg>olg>gg>i apparatus; endoplasmic reticulum; and endoplasmic reticulum-g>Gg>olg>gg>i intermediate compartment. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMED6 Gene

transmembrane emp24 protein transport domain containing>gg> 6

Predicted to be involved in g>Gg>olg>gg>i org>gg>anization; endoplasmic reticulum to g>Gg>olg>gg>i vesicle-mediated transport; and intracellular protein transport. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in several cellular components, including>gg> COPII-coated ER to g>Gg>olg>gg>i transport vesicle; g>Gg>olg>gg>i apparatus; and endoplasmic reticulum-g>Gg>olg>gg>i intermediate compartment. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMED5 Gene

transmembrane emp24 protein transport domain containing>gg> 5

Involved in g>Gg>olg>gg>i ribbon formation. Located in cis-g>Gg>olg>gg>i network; endoplasmic reticulum exit site; and endoplasmic reticulum-g>Gg>olg>gg>i intermediate compartment. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMED4 Gene

transmembrane emp24 protein transport domain containing>gg> 4

Involved in positive reg>gg>ulation of canonical NF-kappaB sig>gg>nal transduction. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in several cellular components, including>gg> COPII-coated ER to g>Gg>olg>gg>i transport vesicle; g>Gg>olg>gg>i apparatus; and endoplasmic reticulum-g>Gg>olg>gg>i intermediate compartment. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMED3 Gene

transmembrane emp24 protein transport domain containing>gg> 3

Predicted to be involved in g>Gg>olg>gg>i org>gg>anization; endoplasmic reticulum to g>Gg>olg>gg>i vesicle-mediated transport; and intracellular protein transport. Located in g>Gg>olg>gg>i apparatus; endoplasmic reticulum; and endoplasmic reticulum-g>Gg>olg>gg>i intermediate compartment. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMED2 Gene

transmembrane emp24 domain trafficking>gg> protein 2

Predicted to enable frizzled binding>gg> activity and smoothened binding>gg> activity. Involved in several processes, including>gg> g>Gg>olg>gg>i org>gg>anization; neg>gg>ative reg>gg>ulation of g>Gg>TPase activity; and protein localization to plasma membrane. Located in g>Gg>olg>gg>i apparatus; endoplasmic reticulum; and endoplasmic reticulum-g>Gg>olg>gg>i intermediate compartment. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMED1 Gene

transmembrane emp24 protein transport domain containing>gg> 1

This g>gg>ene belong>gg>s to the TMED (transmembrane emp24 domain-containing>gg>) protein family, which is involved in the vesicular trafficking>gg> of proteins. The protein encoded by this g>gg>ene was identified by its interaction with interleukin 1 g>receptorg>-like 1 (IL1RL1) and may play a role in innate immunity. This protein lacks any similarity to other interleukin 1 lig>gg>ands. Alternative splicing>gg> results in multiple transcript variants of this g>gg>ene. [provided by RefSeq, Jul 2013]

BAIAP2L2 Gene

BAI1-associated protein 2-like 2

The protein encoded by this g>gg>ene binds phosphoinositides and promotes the formation of planar or curved membrane structures. The encoded protein is found in RAB13-positive vesicles and at intercellular contacts with the plasma membrane. [provided by RefSeq, Dec 2012]

BAIAP2L1 Gene

BAI1-associated protein 2-like 1

This g>gg>ene encodes a member of the IMD (IRSp53/MIM homolog>gg>y domain) family. Members of this family can be subdivided in two g>gg>roups, the IRSp53-like and MIM-like, based on the presence or absence of the SH3 (Src homolog>gg>y 3) domain. The protein encoded by this g>gg>ene contains a conserved IMD, also known as F-actin bundling>gg> domain, at the N-terminus, and a canonical SH3 domain near the C-terminus, so it belong>gg>s to the IRSp53-like g>gg>roup. This protein is the substrate for insulin g>receptorg> tyrosine kinase and binds to the small g>Gg>TPase Rac. It is involved in sig>gg>nal transduction pathways that link deformation of the plasma membrane and remodeling>gg> of the actin cytoskeleton. It also promotes actin assembly and membrane protrusions when overexpressed in mammalian cells, and is essential to the formation of a potent actin assembly complex during>gg> EHEC (Enterohemorrhag>gg>ic Escherichia coli) pedestal formation. [provided by RefSeq, Oct 2009]

TMED9 Gene

transmembrane emp24 protein transport domain containing>gg> 9

This g>gg>ene is a member of a family of g>gg>enes encoding>gg> transport proteins located in the endoplasmic reticulum and the g>Gg>olg>gg>i. A similar g>gg>ene in mouse is the targ>gg>et of microRNA miR-296, which is part of an imprinted cluster. [provided by RefSeq, Jul 2016]

TMED8 Gene

transmembrane emp24 protein transport domain containing>gg> 8

HNRNPD Gene

heterog>gg>eneous nuclear ribonucleoprotein D (AU-rich element RNA binding>gg> protein 1, 37kDa)

This g>gg>ene belong>gg>s to the subfamily of ubiquitously expressed heterog>gg>eneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are nucleic acid binding>gg> proteins and they complex with heterog>gg>eneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing>gg> and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding>gg> properties. The protein encoded by this g>gg>ene has two repeats of quasi-RRM domains that bind to RNAs. It localizes to both the nucleus and the cytoplasm. This protein is implicated in the reg>gg>ulation of mRNA stability. Alternative splicing>gg> of this g>gg>ene results in four transcript variants. [provided by RefSeq, Jul 2008]

CD59 Gene

CD59 molecule, complement reg>gg>ulatory protein

This g>gg>ene encodes a cell surface g>gg>lycoprotein that reg>gg>ulates complement-mediated cell lysis, and it is involved in lymphocyte sig>gg>nal transduction. This protein is a potent inhibitor of the complement membrane attack complex, whereby it binds complement C8 and/or C9 during>gg> the assembly of this complex, thereby inhibiting>gg> the incorporation of multiple copies of C9 into the complex, which is necessary for osmolytic pore formation. This protein also plays a role in sig>gg>nal transduction pathways in the activation of T cells. Mutations in this g>gg>ene cause CD59 deficiency, a disease resulting>gg> in hemolytic anemia and thrombosis, and which causes cerebral infarction. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this g>gg>ene. [provided by RefSeq, Jul 2008]

LOC100419570 Gene

ribosomal protein L29 pseudog>gg>ene

LOC100419574 Gene

HECT and RLD domain containing>gg> E3 ubiquitin protein lig>gg>ase 2 pseudog>gg>ene

ZNF603P Gene

zinc fing>gg>er protein 603, pseudog>gg>ene

LOC100131471 Gene

presenilins-associated rhomboid-like protein, mitochondrial-like

LINC01402 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1402

HIPK2 Gene

homeodomain interacting>gg> protein kinase 2

This g>gg>ene encodes a conserved serine/threonine kinase that is a member of the homeodomain-interacting>gg> protein kinase family. The encoded protein interacts with homeodomain transcription factors and many other transcription factors such as p53, and can function as both a corepressor and a coactivator depending>gg> on the transcription factor and its subcellular localization. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Nov 2011]

RPL29P29 Gene

ribosomal protein L29 pseudog>gg>ene 29

RPL29P28 Gene

ribosomal protein L29 pseudog>gg>ene 28

RPL29P21 Gene

ribosomal protein L29 pseudog>gg>ene 21

CTBP1 Gene

C-terminal binding>gg> protein 1

This g>gg>ene encodes a protein that binds to the C-terminus of adenovirus E1A proteins. This phosphoprotein is a transcriptional repressor and may play a role during>gg> cellular proliferation. This protein and the product of a second closely related g>gg>ene, CTBP2, can dimerize. Both proteins can also interact with a polycomb g>gg>roup protein complex which participates in reg>gg>ulation of g>gg>ene expression during>gg> development. Alternative splicing>gg> of transcripts from this g>gg>ene results in multiple transcript variants. [provided by RefSeq, Jul 2008]

CTBP2 Gene

C-terminal binding>gg> protein 2

This g>gg>ene produces alternative transcripts encoding>gg> two distinct proteins. One protein is a transcriptional repressor, while the other isoform is a major component of specialized synapses known as synaptic ribbons. Both proteins contain a NAD+ binding>gg> domain similar to NAD+-dependent 2-hydroxyacid dehydrog>gg>enases. A portion of the 3' untranslated reg>gg>ion was used to map this g>gg>ene to chromosome 21q21.3; however, it was noted that similar loci elsewhere in the g>gg>enome are likely. Blast analysis shows that this g>gg>ene is present on chromosome 10. Several transcript variants encoding>gg> two different isoforms have been found for this g>gg>ene. [provided by RefSeq, Feb 2014]

RPL29P22 Gene

ribosomal protein L29 pseudog>gg>ene 22

RPL29P25 Gene

ribosomal protein L29 pseudog>gg>ene 25

RPL29P24 Gene

ribosomal protein L29 pseudog>gg>ene 24

RPL29P27 Gene

ribosomal protein L29 pseudog>gg>ene 27

RPL29P26 Gene

ribosomal protein L29 pseudog>gg>ene 26

LOC100420062 Gene

transmembrane protein 160 pseudog>gg>ene

SDCBPP1 Gene

syndecan binding>gg> protein (syntenin) pseudog>gg>ene 1

SDCBPP2 Gene

syndecan binding>gg> protein (syntenin) pseudog>gg>ene 2

LOC100419852 Gene

sterol carrier protein 2 pseudog>gg>ene

LINC01024 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1024

RPS19P1 Gene

ribosomal protein S19 pseudog>gg>ene 1

RPS19P2 Gene

ribosomal protein S19 pseudog>gg>ene 2

RPS19P3 Gene

ribosomal protein S19 pseudog>gg>ene 3

RPS19P4 Gene

ribosomal protein S19 pseudog>gg>ene 4

RPS19P5 Gene

ribosomal protein S19 pseudog>gg>ene 5

RPS19P6 Gene

ribosomal protein S19 pseudog>gg>ene 6

RPS19P7 Gene

ribosomal protein S19 pseudog>gg>ene 7

EWSR1 Gene

EWS RNA-binding>gg> protein 1

This g>gg>ene encodes a multifunctional protein that is involved in various cellular processes, including>gg> g>gg>ene expression, cell sig>gg>naling>gg>, and RNA processing>gg> and transport. The protein includes an N-terminal transcriptional activation domain and a C-terminal RNA-binding>gg> domain. Chromosomal translocations between this g>gg>ene and various g>gg>enes encoding>gg> transcription factors result in the production of chimeric proteins that are involved in tumorig>gg>enesis. These chimeric proteins usually consist of the N-terminal transcriptional activation domain of this protein fused to the C-terminal DNA-binding>gg> domain of the transcription factor protein. Mutations in this g>gg>ene, specifically a t(11;22)(q24;q12) translocation, are known to cause Ewing>gg> sarcoma as well as neuroectodermal and various other tumors. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants. Related pseudog>gg>enes have been identified on chromosomes 1 and 14. [provided by RefSeq, Jul 2009]

ARL2BP Gene

ADP-ribosylation factor-like 2 binding>gg> protein

ADP-ribosylation factor (ARF)-like proteins (ARLs) comprise a functionally distinct g>gg>roup of the ARF family of RAS-related g>Gg>TPases. The protein encoded by this g>gg>ene binds to ARL2.g>Gg>TP with hig>gg>h affinity but does not interact with ARL2.g>Gg>DP, activated ARF, or RHO proteins. The lack of detectable membrane association of this protein or ARL2 upon activation of ARL2 is sug>gg>g>gg>estive of actions distinct from those of the ARFs. This protein is considered to be the first ARL2-specific effector identified, due to its interaction with ARL2.g>Gg>TP but lack of ARL2 g>Gg>TPase-activating>gg> protein activity. [provided by RefSeq, Jul 2008]

FKBP1AP1 Gene

FK506 binding>gg> protein 1A, 12kDa pseudog>gg>ene 1

FKBP1AP3 Gene

FK506 binding>gg> protein 1A, 12kDa pseudog>gg>ene 3

FKBP1AP2 Gene

FK506 binding>gg> protein 1A, 12kDa pseudog>gg>ene 2

FKBP1AP4 Gene

FK506 binding>gg> protein 1A, 12kDa pseudog>gg>ene 4

CHM Gene

choroideremia (Rab escort protein 1)

This g>gg>ene encodes component A of the RAB g>gg>eranylg>gg>eranyl transferase holoenzyme. In the dimeric holoenzyme, this subunit binds unprenylated Rab g>Gg>TPases and then presents them to the catalytic Rab g>Gg>g>Gg>Tase subunit for the g>gg>eranylg>gg>eranyl transfer reaction. Rab g>Gg>TPases need to be g>gg>eranylg>gg>eranyled on either one or two cysteine residues in their C-terminus to localize to the correct intracellular membrane. Mutations in this g>gg>ene are a cause of choroideremia; also known as tapetochoroidal dystrophy (TCD). This X-linked disease is characterized by prog>gg>ressive dystrophy of the choroid, retinal pig>gg>ment epithelium and retina. Alternatively spliced transcript variants have been found for this g>gg>ene. [provided by RefSeq, Mar 2016]

SH3Bg>Gg>RL Gene

SH3 domain binding>gg> g>gg>lutamate-rich protein like

Enables protein-RNA adaptor activity and ubiquitin-like lig>gg>ase-substrate adaptor activity. Involved in positive reg>gg>ulation of cytoplasmic translational initiation and proteasome-mediated ubiquitin-dependent protein catabolic process. Located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL19P20 Gene

ribosomal protein L19 pseudog>gg>ene 20

LOC400026 Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudog>gg>ene

LOC101060058 Gene

putative uncharacterized protein FLJ45355

LOC101060051 Gene

veg>gg>etative cell wall protein g>gg>p1-like

RPS6KB1 Gene

ribosomal protein S6 kinase, 70kDa, polypeptide 1

This g>gg>ene encodes a member of the ribosomal S6 kinase family of serine/threonine kinases. The encoded protein responds to mTOR (mammalian targ>gg>et of rapamycin) sig>gg>naling>gg> to promote protein synthesis, cell g>gg>rowth, and cell proliferation. Activity of this g>gg>ene has been associated with human cancer. Alternatively spliced transcript variants have been observed. The use of alternative translation start sites results in isoforms with long>gg>er or shorter N-termini which may differ in their subcellular localizations. There are two pseudog>gg>enes for this g>gg>ene on chromosome 17. [provided by RefSeq, Jan 2013]

LOC101060056 Gene

mpv17-like protein 2

RPS6KB2 Gene

ribosomal protein S6 kinase, 70kDa, polypeptide 2

This g>gg>ene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains a kinase catalytic domain and phosphorylates the S6 ribosomal protein and eukaryotic translation initiation factor 4B (eIF4B). Phosphorylation of S6 leads to an increase in protein synthesis and cell proliferation. [provided by RefSeq, Jan 2015]

TMED10P1 Gene

transmembrane emp24-like trafficking>gg> protein 10 (yeast) pseudog>gg>ene 1

TMED10P2 Gene

transmembrane emp24-like trafficking>gg> protein 10 (yeast) pseudog>gg>ene 2

XAB2 Gene

XPA binding>gg> protein 2

Involved in DNA-templated transcription; mRNA splicing>gg>, via spliceosome; and transcription-coupled nucleotide-excision repair. Located in nucleoplasm. Part of U2-type catalytic step 2 spliceosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00643 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 643

LINC00642 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 642

LINC00641 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 641

LINC00640 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 640

LINC00645 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 645

LINC00644 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 644

LINC00649 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 649

LINC00648 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 648

ZNF663P Gene

zinc fing>gg>er protein 663, pseudog>gg>ene

ZNF252P Gene

zinc fing>gg>er protein 252, pseudog>gg>ene

LOC391556 Gene

retinoblastoma binding>gg> protein 4 pseudog>gg>ene

LOC105379194 Gene

basic salivary proline-rich protein 4-like

LOC105379196 Gene

protein mag>gg>o nashi homolog>gg> pseudog>gg>ene

ZNF877P Gene

zinc fing>gg>er protein 877, pseudog>gg>ene

EDDM3DP Gene

epididymal protein 3D, pseudog>gg>ene

CNTNAP1 Gene

contactin associated protein 1

The g>gg>ene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,384-amino acid protein, also desig>gg>nated p190 or CASPR for 'contactin-associated protein,' includes an extracellular domain with several putative protein-protein interaction domains, a putative transmembrane domain, and a 74-amino acid cytoplasmic domain. Northern blot analysis showed that the g>gg>ene is transcribed predominantly in brain as a transcript of 6.2 kb, with weak expression in several other tissues tested. The architecture of its extracellular domain is similar to that of neurexins, and this protein may be the sig>gg>naling>gg> subunit of contactin, enabling>gg> recruitment and activation of intracellular sig>gg>naling>gg> pathways in neurons. [provided by RefSeq, Jan 2009]

LOC102723390 Gene

protein FRg>Gg>1-like

LOC100996364 Gene

40S ribosomal protein SA-like

LOC100996365 Gene

putative uncharacterized protein FLJ44672

LOC100996362 Gene

C-terminal-binding>gg> protein 2 pseudog>gg>ene

LOC102724750 Gene

uncharacterized protein C2orf27-like

LOC102724751 Gene

putative BCR-like protein 2

TNP2 Gene

transition protein 2 (during>gg> histone to protamine replacement)

Predicted to enable zinc ion binding>gg> activity. Predicted to be involved in several processes, including>gg> penetration of zona pellucida; positive reg>gg>ulation of protein processing>gg>; and sperm DNA condensation. Predicted to act upstream of or within binding>gg> activity of sperm to zona pellucida and flag>gg>ellated sperm motility. Predicted to be located in male g>gg>erm cell nucleus. Predicted to be part of nucleosome. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TNP1 Gene

transition protein 1 (during>gg> histone to protamine replacement)

Transition protein-1 is a spermatid-specific product of the haploid g>gg>enome which replaces histone and is itself replaced in the mature sperm by the protamines (see PRM1, MIM 182880; PRM2, MIM 182890) (Luerssen et al., 1990 [PubMed 2249851]).[supplied by OMIM, Mar 2008]

LOC102724151 Gene

putative POM121-like protein 1

LINC00251 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 251

TSPY20P Gene

testis specific protein, Y-linked 20, pseudog>gg>ene

LOC101930027 Gene

FERM and PDZ domain-containing>gg> protein 2-like

TMEM201 Gene

transmembrane protein 201

Predicted to enable actin filament binding>gg> activity and lamin binding>gg> activity. Involved in centrosome localization; nuclear envelope org>gg>anization; and protein localization to nuclear envelope. Located in cortical endoplasmic reticulum; nuclear inner membrane; and spindle pole centrosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM202 Gene

transmembrane protein 202

Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM203 Gene

transmembrane protein 203

Involved in intracellular calcium ion homeostasis. Located in endoplasmic reticulum. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM204 Gene

transmembrane protein 204

C16ORF30 plays a role in cell adhesion and cellular permeability at adherens junctions (Kearsey et al., 2004 [PubMed 15206924]).[supplied by OMIM, Mar 2008]

TMEM205 Gene

transmembrane protein 205

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM206 Gene

transmembrane protein 206

Enables pH-g>gg>ated chloride channel activity. Involved in chloride transport. Located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM207 Gene

transmembrane protein 207

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM208 Gene

transmembrane protein 208

This g>gg>ene encodes a hig>gg>hly conserved protein which is localized in the endoplasmic reticulum (ER). The protein is linked to autophag>gg>y and ER stress. Knockdown of this g>gg>ene increased autophag>gg>y and trig>gg>g>gg>ered ER stress. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Dec 2015]

TMEM209 Gene

transmembrane protein 209

Predicted to be located in g>Gg>olg>gg>i apparatus and nuclear envelope. Predicted to be active in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100507393 Gene

putative uncharacterized protein FLJ44672-like

TTTY3B Gene

testis-specific transcript, Y-linked 3B (non-protein coding>gg>)

There are two copies of this g>gg>ene within the P1 palindrome on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

DVL2 Gene

dishevelled seg>gg>ment polarity protein 2

This g>gg>ene encodes a member of the dishevelled (dsh) protein family. The vertebrate dsh proteins have approximately 40% amino acid sequence similarity with Drosophila dsh. This g>gg>ene encodes a 90-kD protein that underg>gg>oes posttranslational phosphorylation to form a 95-kD cytoplasmic protein, which may play a role in the sig>gg>nal transduction pathway mediated by multiple Wnt proteins. The mechanisms of dishevelled function in Wnt sig>gg>naling>gg> are likely to be conserved among>gg> metazoans. [provided by RefSeq, Jul 2008]

DVL3 Gene

dishevelled seg>gg>ment polarity protein 3

This g>gg>ene is a member of a multi-g>gg>ene family which shares strong>gg> similarity with the Drosophila dishevelled g>gg>ene, dsh. The Drosophila dishevelled g>gg>ene encodes a cytoplasmic phosphoprotein that reg>gg>ulates cell proliferation. [provided by RefSeq, Jul 2008]

EEF1D Gene

eukaryotic translation elong>gg>ation factor 1 delta (g>gg>uanine nucleotide exchang>gg>e protein)

This g>gg>ene encodes a subunit of the elong>gg>ation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit, delta, functions as g>gg>uanine nucleotide exchang>gg>e factor. It is reported that following>gg> HIV-1 infection, this subunit interacts with HIV-1 Tat. This interaction results in repression of translation of host cell proteins and enhanced translation of viral proteins. Several alternatively spliced transcript variants encoding>gg> multiple isoforms have been found for this g>gg>ene. Related pseudog>gg>enes have been defined on chromosomes 1, 6, 7, 9, 11, 13, 17, 19.[provided by RefSeq, Aug>gg> 2010]

SPO11 Gene

SPO11 meiotic protein covalently bound to DSB

Meiotic recombination and chromosome seg>gg>reg>gg>ation require the formation of double-strand breaks (DSBs) in paired chromosome homolog>gg>s. During>gg> meiosis in yeast, a meiotic recombination protein is covalently-linked to the 5' end of DSBs and is essential for the formation of DSBs. The protein encoded by this g>gg>ene is similar in sequence and conserved features to the yeast meiotic recombination protein. The encoded protein belong>gg>s to the TOP6A protein family. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene, but the full-leng>gg>th nature of only two of them have been described. [provided by RefSeq, Jul 2008]

ZNF722P Gene

zinc fing>gg>er protein 722, pseudog>gg>ene

RPL8 Gene

ribosomal protein L8

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 60S subunit. The protein belong>gg>s to the L2P family of ribosomal proteins. It is located in the cytoplasm. In rat, the protein associates with the 5.8S rRNA, very likely participates in the binding>gg> of aminoacyl-tRNA, and is a constituent of the elong>gg>ation factor 2-binding>gg> site at the ribosomal subunit interface. Alternatively spliced transcript variants encoding>gg> the same protein exist. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

RPL9 Gene

ribosomal protein L9

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 60S subunit. The protein belong>gg>s to the L6P family of ribosomal proteins. It is located in the cytoplasm. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Feb 2016]

RPL6 Gene

ribosomal protein L6

This g>gg>ene encodes a protein component of the 60S ribosomal subunit. This protein can bind specifically to domain C of the tax-responsive enhancer element of human T-cell leukemia virus type 1, and may participate in tax-mediated transactivation of transcription. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>hout the g>gg>enome. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Feb 2016]

RPL4 Gene

ribosomal protein L4

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 60S subunit. The protein belong>gg>s to the L4E family of ribosomal proteins. It is located in the cytoplasm. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

RPL5 Gene

ribosomal protein L5

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a member of the L18P family of ribosomal proteins and component of the 60S subunit. The encoded protein binds 5S rRNA to form a stable complex called the 5S ribonucleoprotein particle (RNP), which is necessary for the transport of nonribosome-associated cytoplasmic 5S rRNA to the nucleolus for assembly into ribosomes. The encoded protein may also function to inhibit tumorig>gg>enesis throug>gg>h the activation of downstream tumor suppressors and the downreg>gg>ulation of oncoprotein expression. Mutations in this g>gg>ene have been identified in patients with Diamond-Blackfan Anemia (DBA). This g>gg>ene is co-transcribed with the small nucleolar RNA g>gg>ene U21, which is located in its fifth intron. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>hout the g>gg>enome. [provided by RefSeq, Mar 2017]

KCNQ1OT1 Gene

KCNQ1 opposite strand/antisense transcript 1 (non-protein coding>gg>)

Human chromosomal reg>gg>ion 11p15.5 contains two clusters of epig>gg>enetically-reg>gg>ulated g>gg>enes that are expressed from only one chromosome in a parent-of-orig>gg>in manner. Each cluster, or imprinted domain, is reg>gg>ulated by a functionally independent imprinting>gg> control reg>gg>ion (ICR). The human CDKN1C/KCNQ1OT1 domain is reg>gg>ulated by an ICR located in an intron of KCNQ1, and contains at least eig>gg>ht g>gg>enes that are expressed exclusively or preferentially from the maternally-inherited allele. The DNA of the ICR is specifically methylated on the maternally-inherited chromosome, and unmethylated on the paternally-inherited chromosome. The ICR contains the promoter of the KCNQ1OT1 g>gg>ene that is exclusively expressed from the paternal allele. The KCNQ1OT1 transcript is the antisense to the KCNQ1 g>gg>ene and is a unspliced long>gg> non-coding>gg> RNA. It interacts with chromatin and reg>gg>ulates transcription of multiple targ>gg>et g>gg>enes throug>gg>h epig>gg>enetic modifications. The transcript is abnormally expressed from both chromosomes in most patients with Beckwith-Wiedemann syndrome, and the transcript also plays an important role in colorectal carcinog>gg>enesis. [provided by RefSeq, Apr 2012]

RPL3 Gene

ribosomal protein L3

Ribosomes, the complexes that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 60S subunit. The protein belong>gg>s to the L3P family of ribosomal proteins and it is located in the cytoplasm. The protein can bind to the HIV-1 TAR mRNA, and it has been sug>gg>g>gg>ested that the protein contributes to tat-mediated transactivation. This g>gg>ene is co-transcribed with several small nucleolar RNA g>gg>enes, which are located in several of this g>gg>ene's introns. Alternate transcriptional splice variants, encoding>gg> different isoforms, have been characterized. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

ERMAP Gene

erythroblast membrane-associated protein (Scianna blood g>gg>roup)

The protein encoded by this g>gg>ene is a cell surface transmembrane protein that may act as an erythroid cell g>receptorg>, possibly as a mediator of cell adhesion. Polymorphisms in this g>gg>ene are responsible for the Scianna/Radin blood g>gg>roup system. Two transcript variants encoding>gg> the same protein have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

TROAP Gene

trophinin associated protein

Predicted to be involved in cell adhesion. Predicted to be located in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

WASH6P Gene

WAS protein family homolog>gg> 6 pseudog>gg>ene

Predicted to enable alpha-tubulin binding>gg> activity and g>gg>amma-tubulin binding>gg> activity. Predicted to be involved in Arp2/3 complex-mediated actin nucleation; endosomal transport; and exocytosis. Predicted to be located in cytosol and recycling>gg> endosome membrane. Predicted to be part of WASH complex. Predicted to be active in early endosome and recycling>gg> endosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM65 Gene

transmembrane protein 65

Predicted to be involved in cardiac conduction; cardiac ventricle development; and reg>gg>ulation of cardiac conduction. Located in intercalated disc; mitochondrial inner membrane; and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM64 Gene

transmembrane protein 64

Predicted to be involved in several processes, including>gg> neg>gg>ative reg>gg>ulation of canonical Wnt sig>gg>naling>gg> pathway; neg>gg>ative reg>gg>ulation of osteoblast differentiation; and positive reg>gg>ulation of cell differentiation. Predicted to act upstream of or within reg>gg>ulation of ATP-dependent activity. Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM62 Gene

transmembrane protein 62

Predicted to enable hydrolase activity. Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM61 Gene

transmembrane protein 61

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM60 Gene

transmembrane protein 60

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM69 Gene

transmembrane protein 69

Located in mitochondrion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM68 Gene

transmembrane protein 68

Enables phospholipid:diacylg>gg>lycerol acyltransferase activity. Involved in trig>gg>lyceride biosynthetic process. Is active in endoplasmic reticulum membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ITM2C Gene

integ>gg>ral membrane protein 2C

Enables amyloid-beta binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of neuron projection development and neuron differentiation. Located in several cellular components, including>gg> g>Gg>olg>gg>i apparatus; lysosome; and perinuclear reg>gg>ion of cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ITM2A Gene

integ>gg>ral membrane protein 2A

This g>gg>ene encodes a type II membrane protein that belong>gg>s to the ITM2 family. Studies in mouse sug>gg>g>gg>est that it may be involved in osteo- and chondrog>gg>enic differentiation. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jan 2010]

LOC100288935 Gene

transmembrane protein 258 pseudog>gg>ene

PAXBP1 Gene

PAX3 and PAX7 binding>gg> protein 1

Predicted to enable DNA binding>gg> activity and histone methyltransferase binding>gg> activity. Predicted to be involved in positive reg>gg>ulation of transcription by RNA polymerase II. Predicted to act upstream of or within positive reg>gg>ulation of myoblast proliferation and reg>gg>ulation of skeletal muscle satellite cell proliferation. Located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CPROTQ Gene

C-reactive protein QTL

RPS2P26 Gene

ribosomal protein S2 pseudog>gg>ene 26

RPS2P27 Gene

ribosomal protein S2 pseudog>gg>ene 27

RPS2P24 Gene

ribosomal protein S2 pseudog>gg>ene 24

RPS2P25 Gene

ribosomal protein S2 pseudog>gg>ene 25

ZNF628 Gene

zinc fing>gg>er protein 628

Zinc fing>gg>er proteins (ZNFs), which bind nucleic acids, perform many key functions, the most important of which is reg>gg>ulating>gg> transcription. See ZNF91 (MIM 603971) for g>gg>eneral information on ZNFs.[supplied by OMIM, Mar 2008]

ZNF629 Gene

zinc fing>gg>er protein 629

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS2P20 Gene

ribosomal protein S2 pseudog>gg>ene 20

RPS2P21 Gene

ribosomal protein S2 pseudog>gg>ene 21

ZNF624 Gene

zinc fing>gg>er protein 624

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF625 Gene

zinc fing>gg>er protein 625

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF626 Gene

zinc fing>gg>er protein 626

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF627 Gene

zinc fing>gg>er protein 627

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF620 Gene

zinc fing>gg>er protein 620

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF621 Gene

zinc fing>gg>er protein 621

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF622 Gene

zinc fing>gg>er protein 622

Enables preribosome binding>gg> activity. Involved in several processes, including>gg> intrinsic apoptotic sig>gg>naling>gg> pathway in response to oxidative stress; positive reg>gg>ulation of JNK cascade; and positive reg>gg>ulation of kinase activity. Located in g>Gg>olg>gg>i apparatus; cytosol; and nuclear lumen. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF623 Gene

zinc fing>gg>er protein 623

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ARHg>Gg>AP16P Gene

Rho g>Gg>TPase activating>gg> protein 16 pseudog>gg>ene

RPL7 Gene

ribosomal protein L7

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 60S subunit. The protein belong>gg>s to the L30P family of ribosomal proteins. It contains an N-terminal basic reg>gg>ion-leucine zipper (BZIP)-like domain and the RNP consensus submotif RNP2. In vitro the BZIP-like domain mediates homodimerization and stable binding>gg> to DNA and RNA, with a preference for 28S rRNA and mRNA. The protein can inhibit cell-free translation of mRNAs, sug>gg>g>gg>esting>gg> that it plays a reg>gg>ulatory role in the translation apparatus. It is located in the cytoplasm. The protein has been shown to be an autoantig>gg>en in patients with systemic autoimmune diseases, such as systemic lupus erythematosus. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

FSCB Gene

fibrous sheath CABYR binding>gg> protein

Predicted to enable calcium ion binding>gg> activity. Predicted to be involved in neg>gg>ative reg>gg>ulation of protein sumoylation. Predicted to be located in motile cilium. Predicted to be active in sperm fibrous sheath and sperm principal piece. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL21P69 Gene

ribosomal protein L21 pseudog>gg>ene 69

RPL21P65 Gene

ribosomal protein L21 pseudog>gg>ene 65

RPL21P64 Gene

ribosomal protein L21 pseudog>gg>ene 64

RPL21P67 Gene

ribosomal protein L21 pseudog>gg>ene 67

RPL21P66 Gene

ribosomal protein L21 pseudog>gg>ene 66

RPL21P61 Gene

ribosomal protein L21 pseudog>gg>ene 61

RPL21P60 Gene

ribosomal protein L21 pseudog>gg>ene 60

RPL21P63 Gene

ribosomal protein L21 pseudog>gg>ene 63

RPL21P62 Gene

ribosomal protein L21 pseudog>gg>ene 62

Ig>Gg>FALS Gene

insulin-like g>gg>rowth factor binding>gg> protein, acid labile subunit

The protein encoded by this g>gg>ene is a serum protein that binds insulin-like g>gg>rowth factors, increasing>gg> their half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich repeats, is stimulated by g>gg>rowth hormone. Defects in this g>gg>ene are a cause of acid-labile subunit deficiency, which maifests itself in a delayed and slow puberty. Three transcript variants encoding>gg> two different isoforms have been found for this g>gg>ene. [provided by RefSeq, Mar 2009]

RPL32P17 Gene

ribosomal protein L32 pseudog>gg>ene 17

TTTY17A Gene

testis-specific transcript, Y-linked 17A (non-protein coding>gg>)

There are three copies of this g>gg>ene on chromosome Y. This record represents the most centromeric copy. [provided by RefSeq, Jul 2008]

TTTY17B Gene

testis-specific transcript, Y-linked 17B (non-protein coding>gg>)

There are three copies of this g>gg>ene on chromosome Y. This record represents the middle copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008]

TTTY17C Gene

testis-specific transcript, Y-linked 17C (non-protein coding>gg>)

There are three copies of this g>gg>ene on chromosome Y. This record represents the most telomeric copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008]

LOC285697 Gene

TAF11 RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor, 28kDa pseudog>gg>ene

SWSAP1 Gene

SWIM-type zinc fing>gg>er 7 associated protein 1

Enables ATP hydrolysis activity and sing>gg>le-stranded DNA binding>gg> activity. Involved in double-strand break repair via homolog>gg>ous recombination and protein stabilization. Part of Shu complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

HOOK2 Gene

hook microtubule-tethering>gg> protein 2

Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more diverg>gg>ent C-terminal domains, which mediate binding>gg> to org>gg>anelles. The Drosophila Hook protein is a component of the endocytic compartment.[supplied by OMIM, Apr 2004]

HOOK3 Gene

hook microtubule-tethering>gg> protein 3

Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more diverg>gg>ent C-terminal domains, which mediate binding>gg> to org>gg>anelles. The Drosophila Hook protein is a component of the endocytic compartment.[supplied by OMIM, Apr 2004]

RAD51AP1P1 Gene

RAD51 associated protein 1 pseudog>gg>ene 1

HOOK1 Gene

hook microtubule-tethering>gg> protein 1

This g>gg>ene encodes a member of the hook family of coiled-coil proteins, which bind to microtubules and org>gg>anelles throug>gg>h their N- and C-terminal domains, respectively. The encoded protein localizes to discrete punctuate subcellular structures, and interacts with several members of the Rab g>Gg>TPase family involved in endocytosis. It is thoug>gg>ht to link endocytic membrane trafficking>gg> to the microtubule cytoskeleton. Several alternatively spliced transcript variants have been identified, but the full-leng>gg>th nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

SLC4A1AP Gene

solute carrier family 4 (anion exchang>gg>er), member 1, adaptor protein

Predicted to enable mRNA binding>gg> activity. Located in nucleoplasm and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC101929479 Gene

g>gg>olg>gg>in subfamily A member 2-like protein 3

CAMK2D Gene

calcium/calmodulin-dependent protein kinase II delta

The product of this g>gg>ene belong>gg>s to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium sig>gg>naling>gg> is crucial for several aspects of plasticity at g>gg>lutamaterg>gg>ic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, g>gg>amma, and delta. The product of this g>gg>ene is a delta chain. Alternative splicing>gg> results in multiple transcript variants encoding>gg> distinct isoforms. Distinct isoforms of this chain have different expression patterns.[provided by RefSeq, Nov 2008]

CAMK2g>Gg> Gene

calcium/calmodulin-dependent protein kinase II g>gg>amma

The product of this g>gg>ene is one of the four subunits of an enzyme which belong>gg>s to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium sig>gg>naling>gg> is crucial for several aspects of plasticity at g>gg>lutamaterg>gg>ic synapses. In mammalian cells the enzyme is composed of four different chains: alpha, beta, g>gg>amma, and delta. The product of this g>gg>ene is a g>gg>amma chain. Many alternatively spliced transcripts encoding>gg> different isoforms have been described but the full-leng>gg>th nature of all the variants has not been determined.[provided by RefSeq, Mar 2011]

CAMK2A Gene

calcium/calmodulin-dependent protein kinase II alpha

The product of this g>gg>ene belong>gg>s to the serine/threonine protein kinases family, and to the Ca(2+)/calmodulin-dependent protein kinases subfamily. Calcium sig>gg>naling>gg> is crucial for several aspects of plasticity at g>gg>lutamaterg>gg>ic synapses. This calcium calmodulin-dependent protein kinase is composed of four different chains: alpha, beta, g>gg>amma, and delta. The alpha chain encoded by this g>gg>ene is required for hippocampal long>gg>-term potentiation (LTP) and spatial learning>gg>. In addition to its calcium-calmodulin (CaM)-dependent activity, this protein can underg>gg>o autophosphorylation, resulting>gg> in CaM-independent activity. Several transcript variants encoding>gg> distinct isoforms have been identified for this g>gg>ene. [provided by RefSeq, Jun 2018]

CAMK2B Gene

calcium/calmodulin-dependent protein kinase II beta

The product of this g>gg>ene belong>gg>s to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium sig>gg>naling>gg> is crucial for several aspects of plasticity at g>gg>lutamaterg>gg>ic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, g>gg>amma, and delta. The product of this g>gg>ene is a beta chain. It is possible that distinct isoforms of this chain have different cellular localizations and interact differently with calmodulin. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, May 2014]

LOC100288778 Gene

WAS protein family homolog>gg> 1 pseudog>gg>ene

LOC105378167 Gene

veg>gg>etative cell wall protein g>gg>p1-like

HCg>Gg>25 Gene

HLA complex g>gg>roup 25 (non-protein coding>gg>)

HCg>Gg>27 Gene

HLA complex g>gg>roup 27 (non-protein coding>gg>)

LINC00929 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 929

PRKDC Gene

protein kinase, DNA-activated, catalytic polypeptide

This g>gg>ene encodes the catalytic subunit of the DNA-dependent protein kinase (DNA-PK). It functions with the Ku70/Ku80 heterodimer protein in DNA double strand break repair and recombination. The protein encoded is a member of the PI3/PI4-kinase family.[provided by RefSeq, Jul 2010]

MKRN1 Gene

makorin ring>gg> fing>gg>er protein 1

This g>gg>ene encodes a protein that belong>gg>s to a novel class of zinc fing>gg>er proteins. The encoded protein functions as a transcriptional co-reg>gg>ulator, and as an E3 ubiquitin lig>gg>ase that promotes the ubiquitination and proteasomal deg>gg>radation of targ>gg>et proteins. The protein encoded by this g>gg>ene is thoug>gg>ht to reg>gg>ulate RNA polymerase II-catalyzed transcription. Substrates for this protein's E3 ubiquitin lig>gg>ase activity include the capsid protein of the West Nile virus and the catalytic subunit of the telomerase ribonucleoprotein. This protein controls cell cycle arrest and apoptosis by reg>gg>ulating>gg> p21, a cell cycle reg>gg>ulator, and the tumor suppressor protein p53. Pseudog>gg>enes of this g>gg>ene are present on chromosomes 1, 3, 9, 12 and 20, and on the X chromosome. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Apr 2014]

MKRN3 Gene

makorin ring>gg> fing>gg>er protein 3

The protein encoded by this g>gg>ene contains a RINg>Gg> (C3HC4) zinc fing>gg>er motif and several C3H zinc fing>gg>er motifs. This g>gg>ene is intronless and imprinted, with expression only from the paternal allele. Disruption of the imprinting>gg> at this locus may contribute to Prader-Willi syndrome. An antisense RNA of unknown function has been found overlapping>gg> this g>gg>ene. [provided by RefSeq, Jul 2008]

MKRN2 Gene

makorin ring>gg> fing>gg>er protein 2

This g>gg>ene encodes a probable E3 ubiquitin lig>gg>ase containing>gg> several zinc fing>gg>er domains, that is a member of the makorin RINg>Gg> zinc-fing>gg>er protein family. This g>gg>ene overlaps the v-raf-1 murine leukemia viral oncog>gg>ene homolog>gg> 1 (RAF1) g>gg>ene in an antisense orientation and may have a co-reg>gg>ulatory function with RAF1. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Nov 2012]

PRKAR1AP Gene

protein kinase, cAMP-dependent, reg>gg>ulatory, type I, alpha pseudog>gg>ene

KRTAP3-4P Gene

keratin associated protein 3-4, pseudog>gg>ene

RPL23AP18 Gene

ribosomal protein L23a pseudog>gg>ene 18

RPL23AP19 Gene

ribosomal protein L23a pseudog>gg>ene 19

RPL23AP10 Gene

ribosomal protein L23a pseudog>gg>ene 10

RPL23AP11 Gene

ribosomal protein L23a pseudog>gg>ene 11

TMEM67 Gene

transmembrane protein 67

The protein encoded by this g>gg>ene localizes to the primary cilium and to the plasma membrane. The g>gg>ene functions in centriole mig>gg>ration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. Defects in this g>gg>ene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq, Nov 2008]

JSRP1 Gene

junctional sarcoplasmic reticulum protein 1

The protein encoded by this g>gg>ene is involved in excitation-contraction coupling>gg> at the sarcoplasmic reticulum. The encoded protein can interact with CACNA1S, CACNB1, and calsequestrin to help reg>gg>ulate calcium influx and efflux in skeletal muscle. [provided by RefSeq, Jul 2012]

HSPA8P10 Gene

heat shock 70kDa protein 8 pseudog>gg>ene 10

PRKD1 Gene

protein kinase D1

The protein encoded by this g>gg>ene is a serine/threonine protein kinase involved in many cellular processes, including>gg> g>Gg>olg>gg>i body membrane integ>gg>rity and transport, cell mig>gg>ration and differentiation, MAPK8/JNK1 and Ras pathway sig>gg>naling>gg>, MAPK1/3 (ERK1/2) pathway sig>gg>naling>gg>, cell survival, and reg>gg>ulation of cell shape and adhesion. [provided by RefSeq, Jan 2017]

PRKD2 Gene

protein kinase D2

The protein encoded by this g>gg>ene belong>gg>s to the protein kinase D (PKD) family of serine/threonine protein kinases. This kinase can be activated by phorbol esters as well as by g>gg>astrin via the cholecystokinin B g>receptorg> (CCKBR) in g>gg>astric cancer cells. It can bind to diacylg>gg>lycerol (DAg>Gg>) in the trans-g>Gg>olg>gg>i network (Tg>Gg>N) and may reg>gg>ulate basolateral membrane protein exit from Tg>Gg>N. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Jul 2008]

PRKD3 Gene

protein kinase D3

This g>gg>ene belong>gg>s to the multig>gg>ene protein kinase D family of serine/threonine kinases, which bind diacylg>gg>lycerol and phorbol esters. Members of this family are characterized by an N-terminal reg>gg>ulatory domain comprised of a tandem repeat of cysteine-rich zinc-fing>gg>er motifs and a pleckstrin domain. The C-terminal reg>gg>ion contains the catalytic domain and is distantly related to calcium-reg>gg>ulated kinases. Catalytic activity of this enzyme promotes its nuclear localization. This protein has been implicated in a variety of functions including>gg> neg>gg>ative reg>gg>ulation of human airway epithelial barrier formation, g>gg>rowth reg>gg>ulation of breast and prostate cancer cells, and vesicle trafficking>gg>. [provided by RefSeq, Jan 2015]

LOC100533643 Gene

zinc fing>gg>er protein 91 pseudog>gg>ene

LOC100533644 Gene

zinc fing>gg>er protein 628 pseudog>gg>ene

LOC100533646 Gene

zinc fing>gg>er protein 135 pseudog>gg>ene

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

UBA52P8 Gene

ubiquitin A-52 residue ribosomal protein fusion product 1 pseudog>gg>ene 8

UBA52P9 Gene

ubiquitin A-52 residue ribosomal protein fusion product 1 pseudog>gg>ene 9

ITM2B Gene

integ>gg>ral membrane protein 2B

Amyloid precursor proteins are processed by beta-secretase and g>gg>amma-secretase to produce beta-amyloid peptides which form the characteristic plaques of Alzheimer disease. This g>gg>ene encodes a transmembrane protein which is processed at the C-terminus by furin or furin-like proteases to produce a small secreted peptide which inhibits the deposition of beta-amyloid. Mutations which result in extension of the C-terminal end of the encoded protein, thereby increasing>gg> the size of the secreted peptide, are associated with two neurog>gg>enerative diseases, familial British dementia and familial Danish dementia. [provided by RefSeq, Oct 2009]

UBA52P1 Gene

ubiquitin A-52 residue ribosomal protein fusion product 1 pseudog>gg>ene 1

UBA52P2 Gene

ubiquitin A-52 residue ribosomal protein fusion product 1 pseudog>gg>ene 2

UBA52P3 Gene

ubiquitin A-52 residue ribosomal protein fusion product 1 pseudog>gg>ene 3

UBA52P4 Gene

ubiquitin A-52 residue ribosomal protein fusion product 1 pseudog>gg>ene 4

UBA52P6 Gene

ubiquitin A-52 residue ribosomal protein fusion product 1 pseudog>gg>ene 6

UBA52P7 Gene

ubiquitin A-52 residue ribosomal protein fusion product 1 pseudog>gg>ene 7

MRPL42P3 Gene

mitochondrial ribosomal protein L42 pseudog>gg>ene 3

MRPL42P2 Gene

mitochondrial ribosomal protein L42 pseudog>gg>ene 2

PHF21A Gene

PHD fing>gg>er protein 21A

The PHF21A g>gg>ene encodes BHC80, a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that mediates repression of neuron-specific g>gg>enes throug>gg>h the cis-reg>gg>ulatory element known as repressor element-1 (RE1) or neural restrictive silencer (NRS) (Hakimi et al., 2002 [PubMed 12032298]).[supplied by OMIM, Nov 2010]

VPS25 Gene

vacuolar protein sorting>gg> 25 homolog>gg> (S. cerevisiae)

This g>gg>ene encodes a protein that is a subunit of the endosomal sorting>gg> complex required for transport II (ESCRT-II). This protein complex functions in sorting>gg> of ubiquitinated membrane proteins during>gg> endocytosis. A pseudog>gg>ene of this g>gg>ene is present on chromosome 1. [provided by RefSeq, Jul 2013]

MAP3K10 Gene

mitog>gg>en-activated protein kinase kinase kinase 10

The protein encoded by this g>gg>ene is a member of the serine/threonine kinase family. This kinase has been shown to activate MAPK8/JNK and MKK4/SEK1, and this kinase itself can be phoshorylated, and thus activated by JNK kinases. This kinase functions preferentially on the JNK sig>gg>naling>gg> pathway, and is reported to be involved in nerve g>gg>rowth factor (Ng>Gg>F) induced neuronal apoptosis. [provided by RefSeq, Jul 2008]

ZNF544 Gene

zinc fing>gg>er protein 544

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF547 Gene

zinc fing>gg>er protein 547

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MAP3K13 Gene

mitog>gg>en-activated protein kinase kinase kinase 13

The protein encoded by this g>gg>ene is a member of serine/threonine protein kinase family. This kinase contains a dual leucine-zipper motif, and has been shown to form dimers/olig>gg>omers throug>gg>h its leucine-zipper motif. This kinase can phosphorylate and activate MAPK8/JNK, MAP2K7/MKK7, which sug>gg>g>gg>ests a role in the JNK sig>gg>naling>gg> pathway. [provided by RefSeq, Jul 2008]

ZNF540 Gene

zinc fing>gg>er protein 540

Enables mRNA reg>gg>ulatory element binding>gg> translation repressor activity. Involved in neg>gg>ative reg>gg>ulation of DNA-templated transcription and neg>gg>ative reg>gg>ulation of translation. Located in cytosol and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF543 Gene

zinc fing>gg>er protein 543

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MAP3K19 Gene

mitog>gg>en-activated protein kinase kinase kinase 19

Predicted to enable ATP binding>gg> activity; protein serine kinase activity; and protein serine/threonine kinase activity. Predicted to be involved in MAPK cascade. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF549 Gene

zinc fing>gg>er protein 549

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF548 Gene

zinc fing>gg>er protein 548

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

VPS29 Gene

vacuolar protein sorting>gg> 29 homolog>gg> (S. cerevisiae)

This g>gg>ene belong>gg>s to a g>gg>roup of vacuolar protein sorting>gg> (VPS) g>gg>enes that, when functionally impaired, disrupt the efficient delivery of vacuolar hydrolases. The protein encoded by this g>gg>ene is a component of a larg>gg>e multimeric complex, termed the retromer complex, which is involved in retrog>gg>rade transport of proteins from endosomes to the trans-g>Gg>olg>gg>i network. This VPS protein may be involved in the formation of the inner shell of the retromer coat for retrog>gg>rade vesicles leaving>gg> the prevacuolar compartment. Alternative splice variants encoding>gg> different isoforms and representing>gg> non-protein coding>gg> transcripts have been found for this g>gg>ene. [provided by RefSeq, Aug>gg> 2013]

LINC00603 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 603

LINC01419 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1419

LINC01415 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1415

LINC01416 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1416

LINC01411 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1411

LINC01413 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1413

LINC01412 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1412

JAKMIP3 Gene

Janus kinase and microtubule interacting>gg> protein 3

Predicted to enable kinase binding>gg> activity and microtubule binding>gg> activity. Predicted to be located in g>Gg>olg>gg>i apparatus and membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

JAKMIP2 Gene

janus kinase and microtubule interacting>gg> protein 2

The protein encoded by this g>gg>ene is reported to be a component of the g>Gg>olg>gg>i matrix. It may act as a g>gg>olg>gg>in protein by neg>gg>atively reg>gg>ulating>gg> transit of secretory carg>gg>o and by acting>gg> as a structural scaffold of the g>Gg>olg>gg>i. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Aug>gg> 2012]

JAKMIP1 Gene

janus kinase and microtubule interacting>gg> protein 1

Enables g>Gg>ABA g>receptorg> binding>gg> activity and RNA binding>gg> activity. Involved in cog>gg>nition. Located in membrane. Part of ribonucleoprotein complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FAM91A2P Gene

protein FAM91A1-like

LOC100419284 Gene

RAN binding>gg> protein 1 pseudog>gg>ene

LOC105379542 Gene

ribosome biog>gg>enesis protein BMS1 homolog>gg>

RPS2P23 Gene

ribosomal protein S2 pseudog>gg>ene 23

RPL27AP Gene

ribosomal protein L27a pseudog>gg>ene

RBMY1g>Gg>P Gene

RNA binding>gg> motif protein, Y-linked, family 1, member g>Gg>, pseudog>gg>ene

RPS2P29 Gene

ribosomal protein S2 pseudog>gg>ene 29

ZFPM1 Gene

zinc fing>gg>er protein, FOg>Gg> family member 1

Enables RNA polymerase II-specific DNA-binding>gg> transcription factor binding>gg> activity and transcription corepressor activity. Involved in platelet formation; reg>gg>ulation of definitive erythrocyte differentiation; and reg>gg>ulation of g>gg>ene expression. Part of transcription repressor complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MRPS18A Gene

mitochondrial ribosomal protein S18A

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 28S subunit protein that belong>gg>s to the ribosomal protein S18P family. The encoded protein is one of three that has sig>gg>nificant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. A pseudog>gg>ene corresponding>gg> to this g>gg>ene is found on chromosome 3p. Alternative splicing>gg> results in multiple transcript variants.[provided by RefSeq, Jul 2010]

MRPS18B Gene

mitochondrial ribosomal protein S18B

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 28S subunit protein that belong>gg>s to the ribosomal protein S18P family. The encoded protein is one of three that has sig>gg>nificant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. Pseudog>gg>enes corresponding>gg> to this g>gg>ene are found on chromosomes 1q and 2q. [provided by RefSeq, Jul 2008]

MRPS18C Gene

mitochondrial ribosomal protein S18C

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 28S subunit protein that belong>gg>s to the ribosomal protein S18P family. The encoded protein is one of three that has sig>gg>nificant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. Pseudog>gg>enes corresponding>gg> to this g>gg>ene are found on chromosomes 8p, 12p, 15q, and 22q. [provided by RefSeq, Jul 2008]

NRARP Gene

NOTCH-reg>gg>ulated ankyrin repeat protein

Involved in Notch sig>gg>naling>gg> pathway. Acts upstream of or within neg>gg>ative reg>gg>ulation of Notch sig>gg>naling>gg> pathway and positive reg>gg>ulation of canonical Wnt sig>gg>naling>gg> pathway. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MRPL14P1 Gene

mitochondrial ribosomal protein L14 pseudog>gg>ene 1

NOP14 Gene

NOP14 nucleolar protein

This g>gg>ene encodes a protein that plays a role in pre-18s rRNA processing>gg> and small ribosomal subunit assembly. The encoded protein may be involved in the reg>gg>ulation of pancreatic cancer cell proliferation and mig>gg>ration. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, May 2014]

BPI Gene

bactericidal/permeability-increasing>gg> protein

This g>gg>ene encodes a lipopolysaccharide binding>gg> protein. It is associated with human neutrophil g>gg>ranules and has antimicrobial activity ag>gg>ainst g>gg>ram-neg>gg>ative org>gg>anisms. [provided by RefSeq, Nov 2014]

VPS52 Gene

vacuolar protein sorting>gg> 52 homolog>gg> (S. cerevisiae)

This g>gg>ene encodes a protein that is similar to the yeast suppressor of actin mutations 2 g>gg>ene. The yeast protein forms a subunit of the tetrameric g>Gg>olg>gg>i-associated retrog>gg>rade protein complex that is involved in vesicle trafficking>gg> from from both early and late endosomes, back to the trans-g>Gg>olg>gg>i network. This g>gg>ene is located on chromosome 6 in a head-to-head orientation with the g>gg>ene encoding>gg> ribosomal protein S18. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jan 2014]

VPS51 Gene

vacuolar protein sorting>gg> 51 homolog>gg> (S. cerevisiae)

This g>gg>ene encodes a member of the vacuolar protein sorting>gg>-associated protein 51 family. The encoded protein is a component of the g>Gg>olg>gg>i-associated retrog>gg>rade protein complex which acts as a tethering>gg> factor for carriers in retrog>gg>rade transport from the early and late endosomes to the trans-g>Gg>olg>gg>i network. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Dec 2012]

NRM Gene

nurim (nuclear envelope membrane protein)

The protein encoded by this g>gg>ene contains transmembrane domains and resides within the inner nuclear membrane, where it is tig>gg>htly associated with the nucleus. This protein shares homolog>gg>y with isoprenylcysteine carboxymethyltransferase enzymes. Alternative splicing>gg> results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]

RPL21P68 Gene

ribosomal protein L21 pseudog>gg>ene 68

LOC105376906 Gene

endog>gg>enous retrovirus g>gg>roup K member 19 Pol protein

ZASP Gene

ZO-2 associated speckle protein

IER3IP1 Gene

immediate early response 3 interacting>gg> protein 1

This g>gg>ene encodes a small protein that is localized to the endoplasmic reticulum (ER) and may play a role in the ER stress response by mediating>gg> cell differentiation and apoptosis. Transcription of this g>gg>ene is reg>gg>ulated by tumor necrosis factor alpha and specificity protein 1 (Sp1). Mutations in this g>gg>ene may play a role in microcephaly, epilepsy, and diabetes syndrome (MEDS), and a pseudog>gg>ene of this g>gg>ene is located on the long>gg> arm of chromosome 12. [provided by RefSeq, Dec 2011]

LOC390358 Gene

ret fing>gg>er protein-like 2 pseudog>gg>ene

LOC101059997 Gene

alpha/beta hydrolase domain-containing>gg> protein 17A-like

TMEM161BP1 Gene

transmembrane protein 161B pseudog>gg>ene 1

RPS20P9 Gene

ribosomal protein S20 pseudog>gg>ene 9

RPS20P4 Gene

ribosomal protein S20 pseudog>gg>ene 4

RPS20P5 Gene

ribosomal protein S20 pseudog>gg>ene 5

RPS20P6 Gene

ribosomal protein S20 pseudog>gg>ene 6

RPS20P7 Gene

ribosomal protein S20 pseudog>gg>ene 7

RPS20P1 Gene

ribosomal protein S20 pseudog>gg>ene 1

RPS20P2 Gene

ribosomal protein S20 pseudog>gg>ene 2

RPS20P3 Gene

ribosomal protein S20 pseudog>gg>ene 3

MRPS7P2 Gene

mitochondrial ribosomal protein S7 pseudog>gg>ene 2

MRPS7P1 Gene

mitochondrial ribosomal protein S7 pseudog>gg>ene 1

LOC100420990 Gene

aurora kinase A interacting>gg> protein 1 pseudog>gg>ene

RPL17P26 Gene

ribosomal protein L17 pseudog>gg>ene 26

FLJ44896 Gene

FLJ44896 protein

CDK2AP2P1 Gene

cyclin-dependent kinase 2 associated protein 2 pseudog>gg>ene 1

CDK2AP2P3 Gene

cyclin-dependent kinase 2 associated protein 2 pseudog>gg>ene 3

LOC100421116 Gene

trafficking>gg> protein, kinesin binding>gg> 2 pseudog>gg>ene

RPSAP63 Gene

ribosomal protein SA pseudog>gg>ene 63

RPSAP62 Gene

ribosomal protein SA pseudog>gg>ene 62

RPSAP61 Gene

ribosomal protein SA pseudog>gg>ene 61

RPSAP60 Gene

ribosomal protein SA pseudog>gg>ene 60

RPSAP64 Gene

ribosomal protein SA pseudog>gg>ene 64

PCP4 Gene

Purkinje cell protein 4

Enables calcium ion binding>gg> activity and calmodulin binding>gg> activity. Involved in positive reg>gg>ulation of CAMKK-AMPK sig>gg>naling>gg> cascade and positive reg>gg>ulation of neuron differentiation. Located in cytosol and nucleus. Part of protein-containing>gg> complex. Biomarker of Hunting>gg>ton's disease and leiomyoma. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PCP2 Gene

Purkinje cell protein 2

Predicted to enable g>gg>uanyl-nucleotide exchang>gg>e factor activity. Predicted to act upstream of or within g>Gg> g>protein-coupledg> opsin sig>gg>naling>gg> pathway. Predicted to be located in neuronal cell body. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RNFT1 Gene

ring>gg> fing>gg>er protein, transmembrane 1

Enables ubiquitin binding>gg> activity and ubiquitin protein lig>gg>ase activity. Involved in positive reg>gg>ulation of ERAD pathway and protein autoubiquitination. Located in endoplasmic reticulum. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL17P23 Gene

ribosomal protein L17 pseudog>gg>ene 23

RPL12P29 Gene

ribosomal protein L12 pseudog>gg>ene 29

RCBTB2P1 Gene

reg>gg>ulator of chromosome condensation (RCC1) and BTB (POZ) domain containing>gg> protein 2 pseudog>gg>ene 1

FLJ45079 Gene

FLJ45079 protein

TMEM183AP1 Gene

transmembrane protein 183A pseudog>gg>ene 1

ZNF70P1 Gene

zinc fing>gg>er protein 70 pseudog>gg>ene 1

Dg>Gg>CR9 Gene

Dig>Gg>eorg>gg>e syndrome critical reg>gg>ion g>gg>ene 9 (non-protein coding>gg>)

Dg>Gg>CR5 Gene

Dig>Gg>eorg>gg>e syndrome critical reg>gg>ion g>gg>ene 5 (non-protein coding>gg>)

Biomarker of Hunting>gg>ton's disease. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF782 Gene

zinc fing>gg>er protein 782

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF781 Gene

zinc fing>gg>er protein 781

Predicted to enable DNA-binding>gg> transcription factor activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF787 Gene

zinc fing>gg>er protein 787

Enables sequence-specific double-stranded DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF786 Gene

zinc fing>gg>er protein 786

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF785 Gene

zinc fing>gg>er protein 785

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF784 Gene

zinc fing>gg>er protein 784

Enables sequence-specific double-stranded DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to act upstream of or within hematopoietic prog>gg>enitor cell differentiation. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF789 Gene

zinc fing>gg>er protein 789

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL36AP36 Gene

ribosomal protein L36a pseudog>gg>ene 36

LOC100421808 Gene

protein phosphatase 2, reg>gg>ulatory subunit B, g>gg>amma pseudog>gg>ene

LOC100421802 Gene

protein phosphatase 2, reg>gg>ulatory subunit B, alpha pseudog>gg>ene

RPL36AP34 Gene

ribosomal protein L36a pseudog>gg>ene 34

LOC391742 Gene

TAF11 RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor, 28kDa pseudog>gg>ene

Predicted to enable protein heterodimerization activity. Predicted to contribute to RNA polymerase II g>gg>eneral transcription initiation factor activity. Predicted to be involved in RNA polymerase II preinitiation complex assembly. Predicted to be located in nucleus. Predicted to be part of transcription factor TFIID complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC391746 Gene

TAF11 RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor, 28kDa pseudog>gg>ene

Predicted to enable protein heterodimerization activity. Predicted to contribute to RNA polymerase II g>gg>eneral transcription initiation factor activity. Predicted to be involved in RNA polymerase II preinitiation complex assembly. Predicted to be located in nucleus. Predicted to be part of transcription factor TFIID complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM23 Gene

small integ>gg>ral membrane protein 23

Predicted to be located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM20 Gene

small integ>gg>ral membrane protein 20

Involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrial inner membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM21 Gene

small integ>gg>ral membrane protein 21

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM24 Gene

small integ>gg>ral membrane protein 24

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL36AP30 Gene

ribosomal protein L36a pseudog>gg>ene 30

RBMY2DP Gene

RNA binding>gg> motif protein, Y-linked, family 2, member D pseudog>gg>ene

LOC100289037 Gene

NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae) pseudog>gg>ene

UBE3B Gene

ubiquitin protein lig>gg>ase E3B

The modification of proteins with ubiquitin is an important cellular mechanism for targ>gg>eting>gg> abnormal or short-lived proteins for deg>gg>radation. Ubiquitination involves at least three classes of enzymes: E1 ubiquitin-activating>gg> enzymes, E2 ubiquitin-conjug>gg>ating>gg> enzymes, and E3 ubiquitin-protein lig>gg>ases. This g>gg>ene encodes a member of the E3 ubiquitin-conjug>gg>ating>gg> enzyme family which accepts ubiquitin from an E2 ubiquitin-conjug>gg>ating>gg> enzyme and transfers the ubiquitin to the targ>gg>eted substrates. A HECT (homolog>gg>y to E6-AP C-terminus) domain in the C-terminus of the long>gg>er isoform of this protein is the catalytic site of ubiquitin transfer and forms a complex with E2 conjug>gg>ases. Shorter isoforms of this protein which lack the C-terminal HECT domain are therefore unlikely to bind E2 enzymes. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been identified for this g>gg>ene. [provided by RefSeq, Jul 2012]

UBE3C Gene

ubiquitin protein lig>gg>ase E3C

Enables ubiquitin protein lig>gg>ase activity. Involved in protein K29-linked ubiquitination; protein K48-linked ubiquitination; and ubiquitin-dependent protein catabolic process. Predicted to be part of proteasome complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

UBE3A Gene

ubiquitin protein lig>gg>ase E3A

This g>gg>ene encodes an E3 ubiquitin-protein lig>gg>ase, part of the ubiquitin protein deg>gg>radation system. This imprinted g>gg>ene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this g>gg>ene causes Ang>gg>elman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting>gg> in ubiquitination and proteolysis of tumor protein p53. Alternative splicing>gg> of this g>gg>ene results in three transcript variants encoding>gg> three isoforms with different N-termini. Additional transcript variants have been described, but their full leng>gg>th nature has not been determined. [provided by RefSeq, Jul 2008]

UBE3D Gene

ubiquitin protein lig>gg>ase E3D

Enables cyclin binding>gg> activity; ubiquitin protein lig>gg>ase activity; and ubiquitin-like protein conjug>gg>ating>gg> enzyme binding>gg> activity. Involved in protein autoubiquitination; protein monoubiquitination; and protein polyubiquitination. Part of ubiquitin lig>gg>ase complex. Is active in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>ET4 Gene

g>gg>olg>gg>i to ER traffic protein 4 homolog>gg> (S. cerevisiae)

Enables protein-folding>gg> chaperone binding>gg> activity. Involved in several processes, including>gg> cytoplasmic sequestering>gg> of protein; establishment of protein localization to membrane; and proteolysis involved in protein catabolic process. Located in chromosome; cytosol; and nuclear lumen. Part of BAT3 complex. Implicated in cong>gg>enital disorder of g>gg>lycosylation type II. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP21-4P Gene

keratin associated protein 21-4, pseudog>gg>ene

LINC00504 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 504

LINC00505 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 505

LINC00506 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 506

LINC00507 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 507

LINC00501 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 501

LINC00216 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 216

LINC00210 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 210

LINC00211 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 211

ARHg>Gg>AP42P5 Gene

Rho g>Gg>TPase activating>gg> protein 42 pseudog>gg>ene 5

ARHg>Gg>AP42P4 Gene

Rho g>Gg>TPase activating>gg> protein 42 pseudog>gg>ene 4

RPL7AP12 Gene

ribosomal protein L7a pseudog>gg>ene 12

LOC284685 Gene

EWS RNA-binding>gg> protein 1 pseudog>gg>ene

LOC100289416 Gene

zinc fing>gg>er protein 793

LOC100132644 Gene

ribosomal protein L7a pseudog>gg>ene

HSPA1B Gene

heat shock 70kDa protein 1B

This intronless g>gg>ene encodes a 70kDa heat shock protein which is a member of the heat shock protein 70 family. In conjuction with other heat shock proteins, this protein stabilizes existing>gg> proteins ag>gg>ainst ag>gg>g>gg>reg>gg>ation and mediates the folding>gg> of newly translated proteins in the cytosol and in org>gg>anelles. It is also involved in the ubiquitin-proteasome pathway throug>gg>h interaction with the AU-rich element RNA-binding>gg> protein 1. The g>gg>ene is located in the major histocompatibility complex class III reg>gg>ion, in a cluster with two closely related g>gg>enes which encode similar proteins. [provided by RefSeq, Jul 2008]

HSPA1A Gene

heat shock 70kDa protein 1A

This intronless g>gg>ene encodes a 70kDa heat shock protein which is a member of the heat shock protein 70 family. In conjuction with other heat shock proteins, this protein stabilizes existing>gg> proteins ag>gg>ainst ag>gg>g>gg>reg>gg>ation and mediates the folding>gg> of newly translated proteins in the cytosol and in org>gg>anelles. It is also involved in the ubiquitin-proteasome pathway throug>gg>h interaction with the AU-rich element RNA-binding>gg> protein 1. The g>gg>ene is located in the major histocompatibility complex class III reg>gg>ion, in a cluster with two closely related g>gg>enes which encode similar proteins. [provided by RefSeq, Jul 2008]

IKBKAP Gene

inhibitor of kappa lig>gg>ht polypeptide g>gg>ene enhancer in B-cells, kinase complex-associated protein

The protein encoded by this g>gg>ene is a scaffold protein and a reg>gg>ulator for three different kinases involved in proinflammatory sig>gg>naling>gg>. The encoded protein can bind NF-kappa-B-inducing>gg> kinase and I-kappa-B kinases throug>gg>h separate domains and assemble them into an active kinase complex. Mutations in this g>gg>ene have been associated with familial dysautonomia. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Jan 2016]

HSPA1L Gene

heat shock 70kDa protein 1-like

This g>gg>ene encodes a 70kDa heat shock protein. In conjunction with other heat shock proteins, this protein stabilizes existing>gg> proteins ag>gg>ainst ag>gg>g>gg>reg>gg>ation and mediates the folding>gg> of newly translated proteins in the cytosol and in org>gg>anelles. The g>gg>ene is located in the major histocompatibility complex class III reg>gg>ion, in a cluster with two closely related g>gg>enes which also encode isoforms of the 70kDa heat shock protein. [provided by RefSeq, Jul 2008]

LINC00967 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 967

LINC00964 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 964

LINC00965 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 965

LINC00963 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 963

LINC00960 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 960

LINC00961 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 961

Involved in cellular response to amino acid stimulus and neg>gg>ative reg>gg>ulation of TORC1 sig>gg>naling>gg>. Located in late endosome membrane and lysosomal proton-transporting>gg> V-type ATPase complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

HSPA13 Gene

heat shock protein 70kDa family, member 13

The protein encoded by this g>gg>ene is a member of the heat shock protein 70 family and is found associated with microsomes. Members of this protein family play a role in the processing>gg> of cytosolic and secretory proteins, as well as in the removal of denatured or incorrectly-folded proteins. The encoded protein contains an ATPase domain and has been shown to associate with a ubiquitin-like protein. [provided by RefSeq, Jul 2008]

HSPA14 Gene

heat shock 70kDa protein 14

Predicted to enable ATP hydrolysis activity; heat shock protein binding>gg> activity; and protein folding>gg> chaperone. Predicted to be involved in chaperone cofactor-dependent protein refolding>gg> and protein refolding>gg>. Located in cytosol and ribosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MXI1 Gene

MAX interactor 1, dimerization protein

Expression of the c-myc g>gg>ene, which produces an oncog>gg>enic transcription factor, is tig>gg>htly reg>gg>ulated in normal cells but is frequently dereg>gg>ulated in human cancers. The protein encoded by this g>gg>ene is a transcriptional repressor thoug>gg>ht to neg>gg>atively reg>gg>ulate MYC function, and is therefore a potential tumor suppressor. This protein inhibits the transcriptional activity of MYC by competing>gg> for MAX, another basic helix-loop-helix protein that binds to MYC and is required for its function. Defects in this g>gg>ene are frequently found in patients with prostate tumors. Three alternatively spliced transcripts encoding>gg> different isoforms have been described. Additional alternatively spliced transcripts may exist but the products of these transcripts have not been verified experimentally. [provided by RefSeq, Jul 2008]

LOC100129295 Gene

ribosomal protein L22 pseudog>gg>ene

LOC647208 Gene

protein phosphatase 2, reg>gg>ulatory subunit B'', beta pseudog>gg>ene

LOC100129291 Gene

uncharacterized protein CXorf49-like

LOC105377131 Gene

putative uncharacterized protein YIL100C-A

LOC102724093 Gene

putative g>gg>olg>gg>in subfamily A member 6-like protein 4

CRTAC1 Gene

cartilag>gg>e acidic protein 1

This g>gg>ene encodes a g>gg>lycosylated extracellular matrix protein that is found in the interterritorial matrix of articular deep zone cartilag>gg>e. This protein is used as a marker to disting>gg>uish chondrocytes from osteoblasts and mesenchymal stem cells in culture. The presence of Fg>Gg>-g>Gg>AP motifs and an Rg>Gg>D integ>gg>rin-binding>gg> motif sug>gg>g>gg>ests that this protein may be involved in cell-cell or cell-matrix interactions. Copy number alterations in this g>gg>ene have been observed in neurofibromatosis type 1-associated g>gg>lomus tumors. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Aug>gg> 2011]

STAMBPL1 Gene

STAM binding>gg> protein-like 1

Enables K63-linked deubiquitinase activity. Involved in cellular response to L-leucine and positive reg>gg>ulation of TORC1 sig>gg>naling>gg>. Located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100128454 Gene

39S ribosomal protein L32, mitochondrial pseudog>gg>ene

TTI2 Gene

TELO2 interacting>gg> protein 2

This g>gg>ene encodes a reg>gg>ulator of the DNA damag>gg>e response. The protein is a component of the Triple T complex (TTT) which also includes telomere leng>gg>th reg>gg>ulation protein and TELO2 interacting>gg> protein 1. The TTT complex is involved in cellular resistance to DNA damag>gg>e stresses and may act as a reg>gg>ulator of phosphoinositide-3-kinase-related protein kinase (PIKK) abundance. [provided by RefSeq, May 2013]

TTI1 Gene

TELO2 interacting>gg> protein 1

Involved in positive reg>gg>ulation of DNA damag>gg>e checkpoint and reg>gg>ulation of TOR sig>gg>naling>gg>. Located in cytoplasm. Part of TORC1 complex; TORC2 complex; and TTT Hsp90 cochaperone complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC102724813 Gene

protein FRg>Gg>1B

LOC729722 Gene

ankyrin repeat domain-containing>gg> protein ENSP00000383090-like

PRKRAP1 Gene

protein kinase, interferon-inducible double stranded RNA dependent activator pseudog>gg>ene 1

S100Z Gene

S100 calcium binding>gg> protein Z

Members of the S100 protein family contain 2 calcium-binding>gg> EF-hands and exhibit cell-type specific expression patterns. For additional backg>gg>round information on S100 proteins, see MIM 114085.[supplied by OMIM, Mar 2008]

LINC01608 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1608

LINC01609 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1609

LINC01604 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1604

LINC01605 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1605

LINC01606 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1606

LINC01607 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1607

LINC01600 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1600

LINC01601 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1601

LINC01602 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1602

LINC01603 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1603

LOC729159 Gene

UPF0607 protein ENSP00000381418-like

LOC644249 Gene

coiled-coil domain-containing>gg> protein 29-like

LAPTM4A Gene

lysosomal protein transmembrane 4 alpha

This g>gg>ene encodes a protein that has four predicted transmembrane domains. The function of this g>gg>ene has not yet been determined; however, studies in the mouse homolog>gg> sug>gg>g>gg>est a role in the transport of small molecules across endosomal and lysosomal membranes. [provided by RefSeq, Jul 2008]

LAPTM4B Gene

lysosomal protein transmembrane 4 beta

Enables ceramide binding>gg> activity; enzyme binding>gg> activity; and phosphatidylinositol bisphosphate binding>gg> activity. Involved in several processes, including>gg> endosome transport via multivesicular body sorting>gg> pathway; neg>gg>ative reg>gg>ulation of macromolecule metabolic process; and reg>gg>ulation of lysosomal membrane permeability. Located in several cellular components, including>gg> endosome; lysosomal membrane; and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

S100A7P1 Gene

S100 calcium binding>gg> protein A7 pseudog>gg>ene 1

S100A7P2 Gene

S100 calcium binding>gg> protein A7 pseudog>gg>ene 2

ESYT1 Gene

extended synaptotag>gg>min-like protein 1

Enables identical protein binding>gg> activity and phospholipid transfer activity. Involved in intermembrane lipid transfer. Located in endoplasmic reticulum membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ESYT2 Gene

extended synaptotag>gg>min-like protein 2

Enables calcium ion binding>gg> activity; identical protein binding>gg> activity; and phospholipid binding>gg> activity. Predicted to be involved in endocytosis; endoplasmic reticulum-plasma membrane tethering>gg>; and lipid transport. Located in several cellular components, including>gg> cytoplasmic side of plasma membrane; endoplasmic reticulum membrane; and endoplasmic reticulum-plasma membrane contact site. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ESYT3 Gene

extended synaptotag>gg>min-like protein 3

Predicted to enable calcium ion binding>gg> activity and phospholipid binding>gg> activity. Predicted to be involved in endoplasmic reticulum-plasma membrane tethering>gg> and lipid transport. Located in cytoplasmic side of plasma membrane; endoplasmic reticulum membrane; and endoplasmic reticulum-plasma membrane contact site. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00559 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 559

LINC00558 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 558

LINC00557 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 557

LINC00556 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 556

LINC00555 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 555

IFI44 Gene

interferon-induced protein 44

Predicted to be involved in immune response. Predicted to act upstream of or within response to bacterium. Predicted to be located in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00552 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 552

LINC00551 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 551

LINC00550 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 550

FLJ26850 Gene

FLJ26850 protein

LOC100533641 Gene

zinc fing>gg>er protein 100 pseudog>gg>ene

PABPC4L Gene

poly(A) binding>gg> protein, cytoplasmic 4-like

Predicted to enable mRNA 3'-UTR binding>gg> activity; poly(A) binding>gg> activity; and poly(U) RNA binding>gg> activity. Predicted to be part of ribonucleoprotein complex. Predicted to be active in cytoplasmic stress g>gg>ranule; cytosol; and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100996696 Gene

polyadenylate-binding>gg> protein 4 pseudog>gg>ene

LOC100996693 Gene

CAVP-targ>gg>et protein-like

LOC100996699 Gene

proline-rich protein 2-like

LOC105369728 Gene

serine/arg>gg>inine repetitive matrix protein 1-like

LOC100286942 Gene

ribosomal protein S15a pseudog>gg>ene

MPLKIP Gene

M-phase specific PLK1 interacting>gg> protein

The protein encoded by this g>gg>ene localizes to the centrosome during>gg> mitosis and to the midbody during>gg> cytokinesis. The protein is phosphorylated by cyclin-dependent kinase 1 during>gg> mitosis and subsequently interacts with polo-like kinase 1. The protein is thoug>gg>ht to function in reg>gg>ulating>gg> mitosis and cytokinesis. Mutations in this g>gg>ene result in nonphotosensitive trichothiodystrophy. [provided by RefSeq, Nov 2009]

LINC01337 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1337

g>Gg>PBP1 Gene

g>Gg>C-rich promoter binding>gg> protein 1

This g>gg>ene was orig>gg>inally isolated by subtractive hybridization of cDNAs expressed in atherosclerotic plaques with a thrombus, and was found to be expressed only in vascular smooth muscle cells. However, a shorter splice variant was found to be more ubiquitously expressed. This protein is sug>gg>g>gg>ested to play a role in the development of atherosclerosis. Studies in mice sug>gg>g>gg>est that it may also function as a g>Gg>C-rich promoter-specific trans-activating>gg> transcription factor. Several alternatively spliced transcript variants encoding>gg> different isoforms have been described for this g>gg>ene. [provided by RefSeq, Feb 2011]

PPP2R2DP1 Gene

protein phosphatase 2, reg>gg>ulatory subunit B, delta pseudog>gg>ene 1

LOC100132229 Gene

nuclear pore associated protein 1 pseudog>gg>ene

LOC102723475 Gene

putative uncharacterized protein LOC388820

LOC101928318 Gene

nucleolar protein 58-like

CEP250 Gene

centrosomal protein 250kDa

This g>gg>ene encodes a core centrosomal protein required for centriole-centriole cohesion during>gg> interphase of the cell cycle. The encoded protein dissociates from the centrosomes when parental centrioles separate at the beg>gg>inning>gg> of mitosis. The protein associates with and is phosphorylated by NIMA-related kinase 2, which is also associated with the centrosome. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Dec 2015]

RPL21P129 Gene

ribosomal protein L21 pseudog>gg>ene 129

RPL21P128 Gene

ribosomal protein L21 pseudog>gg>ene 128

RPL21P126 Gene

ribosomal protein L21 pseudog>gg>ene 126

RPL21P125 Gene

ribosomal protein L21 pseudog>gg>ene 125

RPL21P124 Gene

ribosomal protein L21 pseudog>gg>ene 124

RPL21P123 Gene

ribosomal protein L21 pseudog>gg>ene 123

UHRF2 Gene

ubiquitin-like with PHD and ring>gg> fing>gg>er domains 2, E3 ubiquitin protein lig>gg>ase

This g>gg>ene encodes a nuclear protein which is involved in cell-cycle reg>gg>ulation. The encoded protein is a ubiquitin-lig>gg>ase capable of ubiquinating>gg> PCNP (PEST-containing>gg> nuclear protein), and tog>gg>ether they may play a role in tumorig>gg>enesis. The encoded protein contains an NIRF_N domain, a PHD fing>gg>er, a set- and ring>gg>-associated (SRA) domain, and a RINg>Gg> fing>gg>er domain and several of these domains have been shown to be essential for the reg>gg>ulation of cell proliferation. This protein may also have a role in intranuclear deg>gg>radation of polyg>gg>lutamine ag>gg>g>gg>reg>gg>ates. Alternative splicing>gg> results in multiple transcript variants some of which are non-protein coding>gg>. [provided by RefSeq, Feb 2012]

RPL21P120 Gene

ribosomal protein L21 pseudog>gg>ene 120

FLJ11857 Gene

uncharacterized protein FLJ11857

LOC102725115 Gene

proline-rich protein 23D1-like

HEg>Gg>1 Gene

heart development protein with Eg>Gg>F-like domains 1

Predicted to enable calcium ion binding>gg> activity. Involved in several processes, including>gg> neg>gg>ative reg>gg>ulation of Rho protein sig>gg>nal transduction; neg>gg>ative reg>gg>ulation of Rho-dependent protein serine/threonine kinase activity; and neg>gg>ative reg>gg>ulation of membrane permeability. Located in cell-cell junction. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CASC2 Gene

cancer susceptibility candidate 2 (non-protein coding>gg>)

Involved in defense response to tumor cell; neg>gg>ative reg>gg>ulation of MAPK cascade; and positive reg>gg>ulation of cysteine-type endopeptidase activity. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CASC6 Gene

cancer susceptibility candidate 6 (non-protein coding>gg>)

HCg>Gg>21 Gene

HLA complex g>gg>roup 21 (non-protein coding>gg>)

PXMP2 Gene

peroxisomal membrane protein 2, 22kDa

Located in peroxisomal membrane. Part of protein-containing>gg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CASC8 Gene

cancer susceptibility candidate 8 (non-protein coding>gg>)

PXMP4 Gene

peroxisomal membrane protein 4, 24kDa

Predicted to act upstream of or within ether lipid metabolic process. Located in peroxisomal membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

HCg>Gg>20 Gene

HLA complex g>gg>roup 20 (non-protein coding>gg>)

HCg>Gg>23 Gene

HLA complex g>gg>roup 23 (non-protein coding>gg>)

LOC101927999 Gene

putative uncharacterized protein encoded by LINC00174

HADHAP2 Gene

hydroxyacyl-CoA dehydrog>gg>enase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit pseudog>gg>ene 2

MPV17L Gene

MPV17 mitochondrial membrane protein-like

Involved in neg>gg>ative reg>gg>ulation of hydrog>gg>en peroxide biosynthetic process; neg>gg>ative reg>gg>ulation of mitochondrial outer membrane permeabilization involved in apoptotic sig>gg>naling>gg> pathway; and reactive oxyg>gg>en species metabolic process. Located in peroxisome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RESP18 Gene

reg>gg>ulated endocrine-specific protein 18

Predicted to act upstream of or within in utero embryonic development. Predicted to be located in g>Gg>olg>gg>i apparatus and cytoplasmic vesicle. Predicted to be active in endoplasmic reticulum. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS20P32 Gene

ribosomal protein S20 pseudog>gg>ene 32

RPS20P33 Gene

ribosomal protein S20 pseudog>gg>ene 33

RPL6P1 Gene

ribosomal protein L6 pseudog>gg>ene 1

RPL22P5 Gene

ribosomal protein L22 pseudog>gg>ene 5

RPL22P7 Gene

ribosomal protein L22 pseudog>gg>ene 7

RPL22P1 Gene

ribosomal protein L22 pseudog>gg>ene 1

RPL22P3 Gene

ribosomal protein L22 pseudog>gg>ene 3

RPL22P2 Gene

ribosomal protein L22 pseudog>gg>ene 2

ZNF248 Gene

zinc fing>gg>er protein 248

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100419477 Gene

ribosomal protein L12 pseudog>gg>ene

RPL34P34 Gene

ribosomal protein L34 pseudog>gg>ene 34

RPL34P35 Gene

ribosomal protein L34 pseudog>gg>ene 35

RPL34P31 Gene

ribosomal protein L34 pseudog>gg>ene 31

RPL34P32 Gene

ribosomal protein L34 pseudog>gg>ene 32

RPL5P28 Gene

ribosomal protein L5 pseudog>gg>ene 28

RPL5P29 Gene

ribosomal protein L5 pseudog>gg>ene 29

RPL5P20 Gene

ribosomal protein L5 pseudog>gg>ene 20

RPL5P21 Gene

ribosomal protein L5 pseudog>gg>ene 21

RPL5P22 Gene

ribosomal protein L5 pseudog>gg>ene 22

RPL5P23 Gene

ribosomal protein L5 pseudog>gg>ene 23

RPL5P24 Gene

ribosomal protein L5 pseudog>gg>ene 24

RPL5P25 Gene

ribosomal protein L5 pseudog>gg>ene 25

RPL5P26 Gene

ribosomal protein L5 pseudog>gg>ene 26

RPL5P27 Gene

ribosomal protein L5 pseudog>gg>ene 27

SPOP Gene

speckle-type POZ protein

This g>gg>ene encodes a protein that may modulate the transcriptional repression activities of death-associated protein 6 (DAXX), which interacts with histone deacetylase, core histones, and other histone-associated proteins. In mouse, the encoded protein binds to the putative leucine zipper domain of macroH2A1.2, a variant H2A histone that is enriched on inactivated X chromosomes. The BTB/POZ domain of this protein has been shown in other proteins to mediate transcriptional repression and to interact with components of histone deacetylase co-repressor complexes. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants encoding>gg> the same protein. [provided by RefSeq, Jul 2008]

LINC01375 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1375

LINC01376 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1376

LINC01377 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1377

LINC01370 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1370

ARHg>Gg>AP42 Gene

Rho g>Gg>TPase activating>gg> protein 42

This g>gg>ene encodes a Rho g>Gg>TPase-activating>gg> protein (Rhog>Gg>AP), and member of the g>Gg>RAF or BAR-PH family of proteins. Expression of this g>gg>ene is enriched in vascular smooth muscle cells and the encoded protein inhibits RhoA activity to reg>gg>ulate vascular tone and control blood pressure. A mutation in the first intron of this g>gg>ene modulates its expression and is associated with reduced blood pressure in human patients with borderline hypertension. [provided by RefSeq, Jul 2017]

LINC01378 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1378

NPIPP1 Gene

nuclear pore complex interacting>gg> protein pseudog>gg>ene 1

S100A11 Gene

S100 calcium binding>gg> protein A11

The protein encoded by this g>gg>ene is a member of the S100 family of proteins containing>gg> 2 EF-hand calcium-binding>gg> motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide rang>gg>e of cells, and involved in the reg>gg>ulation of a number of cellular processes such as cell cycle prog>gg>ression and differentiation. S100 g>gg>enes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in motility, invasion, and tubulin polymerization. Chromosomal rearrang>gg>ements and altered expression of this g>gg>ene have been implicated in tumor metastasis. [provided by RefSeq, Jul 2008]

S100A10 Gene

S100 calcium binding>gg> protein A10

The protein encoded by this g>gg>ene is a member of the S100 family of proteins containing>gg> 2 EF-hand calcium-binding>gg> motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide rang>gg>e of cells, and involved in the reg>gg>ulation of a number of cellular processes such as cell cycle prog>gg>ression and differentiation. S100 g>gg>enes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in exocytosis and endocytosis. [provided by RefSeq, Jul 2008]

S100A13 Gene

S100 calcium binding>gg> protein A13

The protein encoded by this g>gg>ene is a member of the S100 family of proteins containing>gg> 2 EF-hand calcium-binding>gg> motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide rang>gg>e of cells, and involved in the reg>gg>ulation of a number of cellular processes such as cell cycle prog>gg>ression and differentiation. S100 g>gg>enes include at least 13 members which are located as a cluster on chromosome 1q21. This protein is widely expressed in various types of tissues with a hig>gg>h expression level in thyroid g>gg>land. In smooth muscle cells, this protein co-expresses with other family members in the nucleus and in stress fibers, sug>gg>g>gg>esting>gg> diverse functions in sig>gg>nal transduction. Multiple alternatively spliced transcript variants encoding>gg> the same protein have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

S100A12 Gene

S100 calcium binding>gg> protein A12

The protein encoded by this g>gg>ene is a member of the S100 family of proteins containing>gg> 2 EF-hand calcium-binding>gg> motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide rang>gg>e of cells, and involved in the reg>gg>ulation of a number of cellular processes such as cell cycle prog>gg>ression and differentiation. S100 g>gg>enes include at least 13 members which are located as a cluster on chromosome 1q21. This protein is proposed to be involved in specific calcium-dependent sig>gg>nal transduction pathways and its reg>gg>ulatory effect on cytoskeletal components may modulate various neutrophil activities. The protein includes an antimicrobial peptide which has antibacterial activity. [provided by RefSeq, Nov 2014]

S100A14 Gene

S100 calcium binding>gg> protein A14

This g>gg>ene encodes a member of the S100 protein family which contains an EF-hand motif and binds calcium. The g>gg>ene is located in a cluster of S100 g>gg>enes on chromosome 1. Levels of the encoded protein have been found to be lower in cancerous tissue and associated with metastasis sug>gg>g>gg>esting>gg> a tumor suppressor function (PMID: 19956863, 19351828). [provided by RefSeq, Dec 2011]

PHYHIP Gene

phytanoyl-CoA 2-hydroxylase interacting>gg> protein

Enables protein tyrosine kinase binding>gg> activity. Involved in protein localization. Located in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

S100A16 Gene

S100 calcium binding>gg> protein A16

Enables calcium ion binding>gg> activity and protein homodimerization activity. Predicted to act upstream of or within response to calcium ion. Located in several cellular components, including>gg> cytosol; extracellular space; and nucleolus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC01484 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1484

LOC105378242 Gene

zinc fing>gg>er protein 705A-like

LOC102724200 Gene

trafficking>gg> protein particle complex subunit 10-like

g>Gg>ABPAP Gene

g>Gg>A binding>gg> protein transcription factor, alpha subunit pseudog>gg>ene

LOC102724205 Gene

centromere protein J-like

LOC102724207 Gene

ankyrin repeat domain-containing>gg> protein 36C-like

LOC402329 Gene

ubiquitin carboxyl-terminal hydrolase 17-like protein 2-like

LINC00028 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 28

LINC01483 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1483

LOC647077 Gene

ribosomal protein L14 pseudog>gg>ene

LRMP Gene

lymphoid-restricted membrane protein

The protein encode dby this g>gg>ene is expressed in a developmentally reg>gg>ulated manner in lymphoid cell lines and tissues. The protein is localized to the cytoplasmic face of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]

PRO1082 Gene

uncharacterized protein PRO1082

LOC100653061 Gene

beta-g>gg>lucuronidase-like protein SMA4

LOC441711 Gene

RINg>Gg> fing>gg>er protein 145-like

DDB2 Gene

damag>gg>e-specific DNA binding>gg> protein 2, 48kDa

This g>gg>ene encodes a protein that is necessary for the repair of ultraviolet lig>gg>ht-damag>gg>ed DNA. This protein is the smaller subunit of a heterodimeric protein complex that participates in nucleotide excision repair, and this complex mediates the ubiquitylation of histones H3 and H4, which facilitates the cellular response to DNA damag>gg>e. This subunit appears to be required for DNA binding>gg>. Mutations in this g>gg>ene cause xeroderma pig>gg>mentosum complementation g>gg>roup E, a recessive disease that is characterized by an increased sensitivity to UV lig>gg>ht and a hig>gg>h predisposition for skin cancer development, in some cases accompanied by neurolog>gg>ical abnormalities. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2014]

MPV17L2 Gene

MPV17 mitochondrial membrane protein-like 2

Involved in mitochondrial ribosome assembly and positive reg>gg>ulation of mitochondrial translation. Located in mitochondrial inner membrane. Part of mitochondrial larg>gg>e ribosomal subunit. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL23AP16 Gene

ribosomal protein L23a pseudog>gg>ene 16

LOC401002 Gene

sing>gg>le stranded DNA binding>gg> protein 3 pseudog>gg>ene

LOC100132025 Gene

transmembrane domain-containing>gg> protein ENSP00000320207-like

RPL23AP17 Gene

ribosomal protein L23a pseudog>gg>ene 17

RPL23AP14 Gene

ribosomal protein L23a pseudog>gg>ene 14

LOC100419863 Gene

zinc fing>gg>er protein 705A pseudog>gg>ene

LINC00160 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 160

LOC646674 Gene

sing>gg>le stranded DNA binding>gg> protein 4 pseudog>gg>ene

LOC102724993 Gene

NPIP-like protein 1

LOC102724995 Gene

putative POM121-like protein 1-like

DAPK3 Gene

death-associated protein kinase 3

Death-associated protein kinase 3 (DAPK3) induces morpholog>gg>ical chang>gg>es in apoptosis when overexpressed in mammalian cells. These results sug>gg>g>gg>est that DAPK3 may play a role in the induction of apoptosis. [provided by RefSeq, Jul 2008]

DAPK2 Gene

death-associated protein kinase 2

This g>gg>ene encodes a protein that belong>gg>s to the serine/threonine protein kinase family. This protein contains a N-terminal protein kinase domain followed by a conserved calmodulin-binding>gg> domain with sig>gg>nificant similarity to that of death-associated protein kinase 1 (DAPK1), a positive reg>gg>ulator of prog>gg>rammed cell death. Overexpression of this g>gg>ene was shown to induce cell apoptosis. It uses multiple polyadenylation sites. [provided by RefSeq, Jul 2008]

DAPK1 Gene

death-associated protein kinase 1

Death-associated protein kinase 1 is a positive mediator of g>gg>amma-interferon induced prog>gg>rammed cell death. DAPK1 encodes a structurally unique 160-kD calmodulin dependent serine-threonine kinase that carries 8 ankyrin repeats and 2 putative P-loop consensus sites. It is a tumor suppressor candidate. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Dec 2013]

ZFPL1 Gene

zinc fing>gg>er protein-like 1

Predicted to enable DNA binding>gg> activity and zinc ion binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Located in g>Gg>olg>gg>i apparatus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100996860 Gene

TAR DNA-binding>gg> protein 43 pseudog>gg>ene

LOC101060391 Gene

zinc fing>gg>er CCCH domain-containing>gg> protein 18-like

LOC149935 Gene

CDK5 reg>gg>ulatory subunit associated protein 3 pseudog>gg>ene

LOC100420074 Gene

transmembrane protein 183A pseudog>gg>ene

LOC100509370 Gene

39S ribosomal protein L21, mitochondrial pseudog>gg>ene

NPIP Gene

nuclear pore complex interacting>gg> protein family, member A1 pseudog>gg>ene

LINC01039 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1039

LINC01038 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1038

LINC01036 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1036

LINC01033 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1033

LINC01032 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1032

LINC01031 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1031

LINC01030 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1030

ZNRF1 Gene

zinc and ring>gg> fing>gg>er 1, E3 ubiquitin protein lig>gg>ase

This g>gg>ene encodes an E3 ubiquitin-protein lig>gg>ase that plays a role in neural-cell differentiation. Overexpression of this g>gg>ene causes neurite-like elong>gg>ation. The encoded protein contains both a zinc fing>gg>er and a RINg>Gg> fing>gg>er motif and is localized in the endosome/lysosome compartment, indicating>gg> that it may be involved in ubiquitin-mediated protein modification, and in synaptic vessicle membranes in neurons. [provided by RefSeq, Feb 2012]

ZNRF2 Gene

zinc and ring>gg> fing>gg>er 2, E3 ubiquitin protein lig>gg>ase

Enables ubiquitin protein lig>gg>ase activity. Involved in positive reg>gg>ulation of autophag>gg>osome-lysosome fusion. Located in cytoplasmic vesicle membrane; nuclear lumen; and plasma membrane. Part of protein-containing>gg> complex. Is active in intracellular membrane-bounded org>gg>anelle. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105375795 Gene

uncharacterized protein FLJ40521-like

Predicted to act upstream of or within response to bacterium. Predicted to be located in external side of plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MYBBP1A Gene

MYB binding>gg> protein (P160) 1a

This g>gg>ene encodes a nucleolar transcriptional reg>gg>ulator that was first identified by its ability to bind specifically to the Myb proto-oncog>gg>ene protein. The encoded protein is thoug>gg>ht to play a role in many cellular processes including>gg> response to nucleolar stress, tumor suppression and synthesis of ribosomal DNA. Alternate splicing>gg> results in multiple transcript variants. [provided by RefSeq, Sep 2013]

ZNF646P1 Gene

zinc fing>gg>er protein 646 pseudog>gg>ene 1

g>Gg>RTP1 Gene

g>gg>rowth hormone reg>gg>ulated TBC protein 1

Predicted to enable g>Gg>TPase activator activity. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

WASH7P Gene

WAS protein family homolog>gg> 7 pseudog>gg>ene

LETM2 Gene

leucine zipper-EF-hand containing>gg> transmembrane protein 2

Predicted to enable transmembrane transporter activity. Predicted to be involved in mitochondrial calcium ion transmembrane transport and mitochondrion org>gg>anization. Located in mitochondrion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PRKCSH Gene

protein kinase C substrate 80K-H

This g>gg>ene encodes the beta-subunit of g>gg>lucosidase II, an N-linked g>gg>lycan-processing>gg> enzyme in the endoplasmic reticulum. The encoded protein is an acidic phosphoprotein known to be a substrate for protein kinase C. Mutations in this g>gg>ene have been associated with the autosomal dominant polycystic liver disease. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jan 2014]

LOC101927245 Gene

veg>gg>etative cell wall protein g>gg>p1-like

RAD51AP1 Gene

RAD51 associated protein 1

Enables nucleic acid binding>gg> activity. Involved in DNA repair; cellular response to ionizing>gg> radiation; and positive reg>gg>ulation of DNA recombination. Located in chromatin and nucleus. Part of protein-containing>gg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RAD51AP2 Gene

RAD51 associated protein 2

Part of protein-containing>gg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SAP30BP Gene

SAP30 binding>gg> protein

Involved in modulation by host of symbiont transcription. Located in intermediate filament cytoskeleton and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TSPY12P Gene

testis specific protein, Y-linked 12, pseudog>gg>ene

LOC101928433 Gene

arabinog>gg>alactan protein 1-like

LOC100421670 Gene

developmentally reg>gg>ulated g>Gg>TP binding>gg> protein 1 pseudog>gg>ene

LOC100996434 Gene

uncharacterized protein FLJ39653 pseudog>gg>ene

PPP1R26P5 Gene

protein phosphatase 1, reg>gg>ulatory subunit 26 pseudog>gg>ene 5

PPP1R26P2 Gene

protein phosphatase 1, reg>gg>ulatory subunit 26 pseudog>gg>ene 2

g>Gg>JE1 Gene

g>gg>ap junction protein, epsilon 1, 23kDa

Predicted to enable g>gg>ap junction channel activity. Predicted to be involved in cell-cell sig>gg>naling>gg>. Predicted to act upstream of or within cell morphog>gg>enesis; lens development in camera-type eye; and org>gg>an g>gg>rowth. Predicted to be located in plasma membrane. Predicted to be part of connexin complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

UBA52P5 Gene

ubiquitin A-52 residue ribosomal protein fusion product 1 pseudog>gg>ene 5

KRTAP8-3P Gene

keratin associated protein 8-3, pseudog>gg>ene

DKFZP434L192 Gene

uncharacterized protein DKFZp434L192

PTAR1 Gene

protein prenyltransferase alpha subunit repeat containing>gg> 1

Predicted to enable protein prenyltransferase activity. Predicted to contribute to Rab g>gg>eranylg>gg>eranyltransferase activity. Located in mitochondrion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CEP350 Gene

centrosomal protein 350kDa

The product of this g>gg>ene is a larg>gg>e protein with a CAP-g>Gg>ly domain typically found in cytoskeleton-associated proteins. The encoded protein primarily localizes to the centrosome, a non-membraneous org>gg>anelle that functions as the major microtubule-org>gg>anizing>gg> center in animal cells. The encoded protein directly interacts with another larg>gg>e centrosomal protein and is required to anchor microtubules at the centrosome. It is also implicated in the reg>gg>ulation of a class of nuclear hormone g>receptorg>s in the nucleus. Several alternatively spliced transcript variants have been found, but their full-leng>gg>th nature has not been determined. [provided by RefSeq, Jul 2008]

LOC646535 Gene

60S ribosomal protein L7a-like

HSPD1P17 Gene

heat shock 60kDa protein 1 (chaperonin) pseudog>gg>ene 17

HSPD1P16 Gene

heat shock 60kDa protein 1 (chaperonin) pseudog>gg>ene 16

HSPD1P15 Gene

heat shock 60kDa protein 1 (chaperonin) pseudog>gg>ene 15

HSPD1P14 Gene

heat shock 60kDa protein 1 (chaperonin) pseudog>gg>ene 14

HSPD1P13 Gene

heat shock 60kDa protein 1 (chaperonin) pseudog>gg>ene 13

HSPD1P12 Gene

heat shock 60kDa protein 1 (chaperonin) pseudog>gg>ene 12

HSPD1P11 Gene

heat shock 60kDa protein 1 (chaperonin) pseudog>gg>ene 11

HSPD1P10 Gene

heat shock 60kDa protein 1 (chaperonin) pseudog>gg>ene 10

HSPD1P19 Gene

heat shock 60kDa protein 1 (chaperonin) pseudog>gg>ene 19

HSPD1P18 Gene

heat shock 60kDa protein 1 (chaperonin) pseudog>gg>ene 18

SERBP1P1 Gene

SERPINE1 mRNA binding>gg> protein 1 pseudog>gg>ene 1

SERBP1P3 Gene

SERPINE1 mRNA binding>gg> protein 1 pseudog>gg>ene 3

SERBP1P2 Gene

SERPINE1 mRNA binding>gg> protein 1 pseudog>gg>ene 2

SERBP1P5 Gene

SERPINE1 mRNA binding>gg> protein 1 pseudog>gg>ene 5

SERBP1P4 Gene

SERPINE1 mRNA binding>gg> protein 1 pseudog>gg>ene 4

SERBP1P6 Gene

SERPINE1 mRNA binding>gg> protein 1 pseudog>gg>ene 6

TMEM161A Gene

transmembrane protein 161A

Involved in several processes, including>gg> cellular response to UV; reg>gg>ulation of cellular response to stress; and response to retinoic acid. Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM161B Gene

transmembrane protein 161B

Predicted to enable nucleic acid binding>gg> activity. Predicted to be involved in reg>gg>ulation of cardiac muscle cell action potential and reg>gg>ulation of heart rate. Predicted to be located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC390739 Gene

MYC binding>gg> protein pseudog>gg>ene

RPL23AP93 Gene

ribosomal protein L23a pseudog>gg>ene 93

RPL23AP96 Gene

ribosomal protein L23a pseudog>gg>ene 96

TRAPPC11 Gene

trafficking>gg> protein particle complex 11

The protein encoded by this g>gg>ene is a subunit of the TRAPP (transport protein particle) tethering>gg> complex, which functions in intracellular vesicle trafficking>gg>. This subunit is involved in early stag>gg>e endoplasmic reticulum-to-g>Gg>olg>gg>i vesicle transport. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants. [provided by RefSeq, Jan 2013]

TRAPPC10 Gene

trafficking>gg> protein particle complex 10

The protein encoded by this g>gg>ene is a transmembrane protein found in the cis-g>Gg>olg>gg>i complex. The encoded protein is part of the multisubunit transport protein particle (TRAPP) complex and may be involved in vesicular transport from the endoplasmic reticulum to the g>Gg>olg>gg>i. Mutations in this g>gg>ene could be responsible for the Unverricht-Lundborg>gg> type of prog>gg>ressive myoclonus epilepsy, or for autoimmune polyg>gg>landular disease type 1. [provided by RefSeq, Jul 2008]

TRAPPC13 Gene

trafficking>gg> protein particle complex 13

Predicted to be involved in endoplasmic reticulum to g>Gg>olg>gg>i vesicle-mediated transport; vesicle coating>gg>; and vesicle tethering>gg>. Predicted to be located in cytosol. Predicted to be part of TRAPPIII protein complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TRAPPC12 Gene

trafficking>gg> protein particle complex 12

Involved in several processes, including>gg> endoplasmic reticulum to g>Gg>olg>gg>i vesicle-mediated transport; positive reg>gg>ulation of protein localization to kinetochore; and reg>gg>ulation of kinetochore assembly. Located in several cellular components, including>gg> endoplasmic reticulum-g>Gg>olg>gg>i intermediate compartment; kinetochore; and perinuclear reg>gg>ion of cytoplasm. Part of TRAPP complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105377021 Gene

putative uncharacterized protein UNQ6490/PRO21339

LOC105377792 Gene

protein app1-like

CEBPB Gene

CCAAT/enhancer binding>gg> protein (C/EBP), beta

This intronless g>gg>ene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain. The encoded protein functions as a homodimer but can also form heterodimers with CCAAT/enhancer-binding>gg> proteins alpha, delta, and g>gg>amma. Activity of this protein is important in the reg>gg>ulation of g>gg>enes involved in immune and inflammatory responses, among>gg> other processes. The use of alternative in-frame AUg>Gg> start codons results in multiple protein isoforms, each with distinct biolog>gg>ical functions. [provided by RefSeq, Oct 2013]

CEBPA Gene

CCAAT/enhancer binding>gg> protein (C/EBP), alpha

This intronless g>gg>ene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain and recog>gg>nizes the CCAAT motif in the promoters of targ>gg>et g>gg>enes. The encoded protein functions in homodimers and also heterodimers with CCAAT/enhancer-binding>gg> proteins beta and g>gg>amma. Activity of this protein can modulate the expression of g>gg>enes involved in cell cycle reg>gg>ulation as well as in body weig>gg>ht homeostasis. Mutation of this g>gg>ene is associated with acute myeloid leukemia. The use of alternative in-frame non-AUg>Gg> (g>Gg>Ug>Gg>) and AUg>Gg> start codons results in protein isoforms with different leng>gg>ths. Differential translation initiation is mediated by an out-of-frame, upstream open reading>gg> frame which is located between the g>Gg>Ug>Gg> and the first AUg>Gg> start codons. [provided by RefSeq, Dec 2013]

CEBPg>Gg> Gene

CCAAT/enhancer binding>gg> protein (C/EBP), g>gg>amma

The C/EBP family of transcription factors reg>gg>ulates viral and cellular CCAAT/enhancer element-mediated transcription. C/EBP proteins contain the bZIP reg>gg>ion, which is characterized by two motifs in the C-terminal half of the protein: a basic reg>gg>ion involved in DNA binding>gg> and a leucine zipper motif involved in dimerization. The C/EBP family consist of several related proteins, C/EBP alpha, C/EBP beta, C/EBP g>gg>amma, and C/EBP delta, that form homodimers and that form heterodimers with each other. CCAAT/enhancer binding>gg> protein g>gg>amma may cooperate with Fos to bind PRE-I enhancer elements. Two transcript variants encoding>gg> the same protein have been found for this g>gg>ene. [provided by RefSeq, Nov 2011]

CEBPE Gene

CCAAT/enhancer binding>gg> protein (C/EBP), epsilon

The protein encoded by this g>gg>ene is a bZIP transcription factor which can bind as a homodimer to certain DNA reg>gg>ulatory reg>gg>ions. It can also form heterodimers with the related protein CEBP-delta. The encoded protein may be essential for terminal differentiation and functional maturation of committed g>gg>ranulocyte prog>gg>enitor cells. Mutations in this g>gg>ene have been associated with Specific g>Gg>ranule Deficiency, a rare cong>gg>enital disorder. Multiple variants of this g>gg>ene have been described, but the full-leng>gg>th nature of only one has been determined. [provided by RefSeq, Jul 2008]

MAP3K11 Gene

mitog>gg>en-activated protein kinase kinase kinase 11

The protein encoded by this g>gg>ene is a member of the serine/threonine kinase family. This kinase contains a SH3 domain and a leucine zipper-basic motif. This kinase preferentially activates MAPK8/JNK kinase, and functions as a positive reg>gg>ulator of JNK sig>gg>naling>gg> pathway. This kinase can directly phosphorylate, and activates IkappaB kinase alpha and beta, and is found to be involved in the transcription activity of NF-kappaB mediated by Rho family g>Gg>TPases and CDC42. [provided by RefSeq, Jul 2008]

MAP3K12 Gene

mitog>gg>en-activated protein kinase kinase kinase 12

This g>gg>ene encodes a member of the serine/threonine protein kinase family. This kinase contains a leucine-zipper domain and is predominately expressed in neuronal cells. The phosphorylation state of this kinase in synaptic terminals was shown to be reg>gg>ulated by membrane depolarization via calcineurin. This kinase forms heterodimers with leucine zipper containing>gg> transcription factors, such as cAMP responsive element binding>gg> protein (CREB) and MYC, and thus may play a reg>gg>ulatory role in PKA or retinoic acid induced neuronal differentiation. Alternatively spliced transcript variants encoding>gg> different proteins have been described.[provided by RefSeq, Jul 2010]

ZNF546 Gene

zinc fing>gg>er protein 546

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in membrane. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CECR9 Gene

cat eye syndrome chromosome reg>gg>ion, candidate 9 (non-protein coding>gg>)

Predicted to be located in extracellular reg>gg>ion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF541 Gene

zinc fing>gg>er protein 541

Predicted to enable transcription corepressor activity. Predicted to be involved in male meiotic nuclear division and reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. Predicted to be part of histone deacetylase complex and transcription reg>gg>ulator complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MAP3K15 Gene

mitog>gg>en-activated protein kinase kinase kinase 15

The protein encoded by this g>gg>ene is a member of the mitog>gg>en-activated protein kinase (MAPK) family. These family members function in a protein kinase sig>gg>nal transduction cascade, where an activated MAPK kinase kinase (MAP3K) phosphorylates and activates a specific MAPK kinase (MAP2K), which then activates a specific MAPK. This MAP3K protein plays an essential role in apoptotic cell death trig>gg>g>gg>ered by cellular stresses. [provided by RefSeq, Jul 2010]

LOC100287614 Gene

ribosomal protein S10 pseudog>gg>ene

CTNNA1 Gene

catenin (cadherin-associated protein), alpha 1, 102kDa

This g>gg>ene encodes a member of the catenin family of proteins that play an important role in cell adhesion process by connecting>gg> cadherins located on the plasma membrane to the actin filaments inside the cell. The encoded mechanosensing>gg> protein contains three vinculin homolog>gg>y domains and underg>gg>oes conformational chang>gg>es in response to cytoskeletal tension, resulting>gg> in the reconfig>gg>uration of cadherin-actin filament connections. Certain mutations in this g>gg>ene cause butterfly-shaped pig>gg>ment dystrophy. [provided by RefSeq, May 2016]

CTNNA2 Gene

catenin (cadherin-associated protein), alpha 2

Enables actin filament binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of Arp2/3 complex-mediated actin nucleation; reg>gg>ulation of neuron mig>gg>ration; and reg>gg>ulation of neuron projection development. Located in cytoplasm. Implicated in complex cortical dysplasia with other brain malformations. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CTNNA3 Gene

catenin (cadherin-associated protein), alpha 3

This g>gg>ene encodes a protein that belong>gg>s to the vinculin/alpha-catenin family. The encoded protein plays a role in cell-cell adhesion in muscle cells. Mutations in this g>gg>ene are associated with arrhythmog>gg>enic rig>gg>ht ventricular dysplasia, familial 13. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Mar 2014]

LOC643802 Gene

u3 small nucleolar ribonucleoprotein protein MPP10-like

STXBP5L Gene

syntaxin binding>gg> protein 5-like

The protein encoded by this g>gg>ene is similar to syntaxin-binding>gg> protein 5 and contains ten N-terminal WD40 repeats, four variable reg>gg>ion WD40 repeats, and a C-terminal R-SNARE domain. Studies of the ortholog>gg>ous proteins in mouse and rat have shown that the encoded protein may inhibit exocytosis in neurosecretory cells, and may neg>gg>atively reg>gg>ulate the secretion of insulin. A missense variant in this g>gg>ene is likely the cause of an infantile-onset neurodeg>gg>enerative disorder diag>gg>nosed in two sibling>gg>s of consang>gg>uineous parents. [provided by RefSeq, Jan 2017]

JPX Gene

JPX transcript, XIST activator (non-protein coding>gg>)

JPX is a nonprotein-coding>gg> RNA transcribed from a g>gg>ene within the X-inactivation center (XIC; MIM 314670) that appears to participate in X chromosome inactivation (Tian et al., 2010 [PubMed 21029862]).[supplied by OMIM, Feb 2011]

UBAP1L Gene

ubiquitin associated protein 1-like

Predicted to enable ubiquitin binding>gg> activity. Predicted to be involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting>gg> pathway. Predicted to be part of ESCRT I complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

EPB41L4B Gene

erythrocyte membrane protein band 4.1 like 4B

Predicted to be a structural constituent of cytoskeleton. Involved in several processes, including>gg> positive reg>gg>ulation of cell adhesion; positive reg>gg>ulation of keratinocyte mig>gg>ration; and wound healing>gg>. Acts upstream of or within actomyosin structure org>gg>anization. Located in apical part of cell; cytosol; and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

EPB41L4A Gene

erythrocyte membrane protein band 4.1 like 4A

The protein encoded by this g>gg>ene is a member of the band 4.1 protein superfamily. Members of this superfamily are thoug>gg>ht to play an important role in reg>gg>ulating>gg> interactions between the cytoskeleton and plasma membrane, and contain an amino terminal conserved domain that binds g>gg>lycophorin C. This g>gg>ene product is thoug>gg>ht to be involved in the beta-catenin sig>gg>naling>gg> pathway. [provided by RefSeq, Dec 2016]

LOC101060159 Gene

putative uncharacterized protein C3orf56

Rg>Gg>SL1 Gene

reg>gg>ulator of g>Gg>-protein sig>gg>naling>gg> like 1

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP20-3 Gene

keratin associated protein 20-3

Predicted to be located in intermediate filament. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP20-4 Gene

keratin associated protein 20-4

Predicted to be located in intermediate filament. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SYNM Gene

synemin, intermediate filament protein

The protein encoded by this g>gg>ene is an intermediate filament (IF) family member. IF proteins are cytoskeletal proteins that confer resistance to mechanical stress and are encoded by a dispersed multig>gg>ene family. This protein has been found to form a linkag>gg>e between desmin, which is a subunit of the IF network, and the extracellular matrix, and provides an important structural support in muscle. Two alternatively spliced variants encoding>gg> different isoforms have been described for this g>gg>ene. [provided by RefSeq, Jul 2008]

CTLA4 Gene

cytotoxic T-lymphocyte-associated protein 4

This g>gg>ene is a member of the immunog>gg>lobulin superfamily and encodes a protein which transmits an inhibitory sig>gg>nal to T cells. The protein contains a V domain, a transmembrane domain, and a cytoplasmic tail. Alternate transcriptional splice variants, encoding>gg> different isoforms, have been characterized. The membrane-bound isoform functions as a homodimer interconnected by a disulfide bond, while the soluble isoform functions as a monomer. Mutations in this g>gg>ene have been associated with insulin-dependent diabetes mellitus, g>Gg>raves disease, Hashimoto thyroiditis, celiac disease, systemic lupus erythematosus, thyroid-associated orbitopathy, and other autoimmune diseases. [provided by RefSeq, Jul 2008]

SYNC Gene

syncoilin, intermediate filament protein

This g>gg>ene encodes a member of the intermediate filament family which contains an N-terminal head domain, followed by a central coiled-coil reg>gg>ion and a short C-terminal tail. The protein is hig>gg>hly expressed in skeletal and cardiac muscle. The protein links the dystrophin associated protein complex (DAPC) to desmin filaments in muscle and may have a structural role in striated muscle. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jun 2009]

RPL17P24 Gene

ribosomal protein L17 pseudog>gg>ene 24

ZBP1 Gene

Z-DNA binding>gg> protein 1

This g>gg>ene encodes a Z-DNA binding>gg> protein. The encoded protein plays a role in the innate immune response by binding>gg> to foreig>gg>n DNA and inducing>gg> type-I interferon production. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Dec 2011]

LINC01410 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1410

PIK3IP1 Gene

phosphoinositide-3-kinase interacting>gg> protein 1

Enables phosphatidylinositol 3-kinase inhibitor activity. Involved in neg>gg>ative reg>gg>ulation of phosphatidylinositol 3-kinase/protein kinase B sig>gg>nal transduction. Predicted to be located in plasma membrane. Predicted to be active in extracellular space. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL17P20 Gene

ribosomal protein L17 pseudog>gg>ene 20

RPL17P22 Gene

ribosomal protein L17 pseudog>gg>ene 22

CASC18 Gene

cancer susceptibility candidate 18 (non-protein coding>gg>)

RBFOX3 Gene

RNA binding>gg> protein, fox-1 homolog>gg> (C. eleg>gg>ans) 3

This g>gg>ene encodes a member of the RNA-binding>gg> FOX protein family which is involved in the reg>gg>ulation of alternative splicing>gg> of pre-mRNA. The protein has an N-terminal proline-rich reg>gg>ion, an RNA recog>gg>nition motif (RRM) domain, and a C-terminal alanine-rich reg>gg>ion. This g>gg>ene produces the neuronal nuclei (NeuN) antig>gg>en that has been widely used as a marker for post-mitotic neurons. This g>gg>ene has its hig>gg>hest expression in the central nervous system and plays a prominent role in neural tissue development and reg>gg>ulation of adult brain function. Mutations in this g>gg>ene have been associated with numerous neurolog>gg>ical disorders. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants encoding>gg> distinct isoforms. [provided by RefSeq, May 2017]

RBFOX1 Gene

RNA binding>gg> protein, fox-1 homolog>gg> (C. eleg>gg>ans) 1

The Fox-1 family of RNA-binding>gg> proteins is evolutionarily conserved, and reg>gg>ulates tissue-specific alternative splicing>gg> in metazoa. Fox-1 recog>gg>nizes a (U)g>Gg>CAUg>Gg> stretch in reg>gg>ulated exons or in flanking>gg> introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted patholog>gg>y of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 g>gg>ene which causes familial neurodeg>gg>enerative diseases. Fox-1 and ataxin-2 are both localized in the trans-g>Gg>olg>gg>i network. Several alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Nov 2011]

RPL35AP25 Gene

ribosomal protein L35a pseudog>gg>ene 25

LINC01231 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1231

LINC01230 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1230

LINC01233 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1233

LINC01237 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1237

LINC00184 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 184

LINC00189 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 189

RPL17P50 Gene

ribosomal protein L17 pseudog>gg>ene 50

MRPL51P2 Gene

mitochondrial ribosomal protein L51 pseudog>gg>ene 2

MRPL51P1 Gene

mitochondrial ribosomal protein L51 pseudog>gg>ene 1

LOC100996247 Gene

putative uncharacterized protein encoded by LINC00269

CDY17P Gene

chromodomain protein, Y-linked 17 pseudog>gg>ene

RAP1g>Gg>AP Gene

RAP1 g>Gg>TPase activating>gg> protein

This g>gg>ene encodes a type of g>Gg>TPase-activating>gg>-protein (g>Gg>AP) that down-reg>gg>ulates the activity of the ras-related RAP1 protein. RAP1 acts as a molecular switch by cycling>gg> between an inactive g>Gg>DP-bound form and an active g>Gg>TP-bound form. The product of this g>gg>ene, RAP1g>Gg>AP, promotes the hydrolysis of bound g>Gg>TP and hence returns RAP1 to the inactive state whereas other proteins, g>gg>uanine nucleotide exchang>gg>e factors (g>Gg>EFs), act as RAP1 activators by facilitating>gg> the conversion of RAP1 from the g>Gg>DP- to the g>Gg>TP-bound form. In g>gg>eneral, ras subfamily proteins, such as RAP1, play key roles in g>receptorg>-linked sig>gg>naling>gg> pathways that control cell g>gg>rowth and differentiation. RAP1 plays a role in diverse processes such as cell proliferation, adhesion, differentiation, and embryog>gg>enesis. Alternative splicing>gg> results in multiple transcript variants encoding>gg> distinct proteins. [provided by RefSeq, Aug>gg> 2011]

RPL24P8 Gene

ribosomal protein L24 pseudog>gg>ene 8

TPRg>Gg>1 Gene

tumor protein p63 reg>gg>ulated 1

Predicted to be active in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PART1 Gene

prostate androg>gg>en-reg>gg>ulated transcript 1 (non-protein coding>gg>)

This g>gg>ene is induced by androg>gg>en in prostate adenocarcinoma cells. Multiple alternatively transcript variants have been described for this g>gg>ene, none of which are predicted to encode a protein product. [provided by RefSeq, Sep 2009]

PTTg>Gg>1IP Gene

pituitary tumor-transforming>gg> 1 interacting>gg> protein

This g>gg>ene encodes a sing>gg>le-pass type I integ>gg>ral membrane protein, which binds to pituitary tumor-transforming>gg> 1 protein (PTTg>Gg>1), and facilitates translocation of PTTg>Gg>1 into the nucleus. Coexpression of this protein and PTTg>Gg>1 induces transcriptional activation of basic fibroblast g>gg>rowth factor. Alternatively spliced transcript variants have been found for this g>gg>ene. [provided by RefSeq, Nov 2013]

ADCP1 Gene

adenosine deaminase complexing>gg> protein 1

NOL4L Gene

nucleolar protein 4-like

Located in cytosol and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL24P5 Gene

ribosomal protein L24 pseudog>gg>ene 5

LOC100128833 Gene

vacuolar protein sorting>gg> 37 homolog>gg> A pseudog>gg>ene

LOC101929941 Gene

neural Wiskott-Aldrich syndrome protein-like

LOC100506654 Gene

g>gg>em (nuclear org>gg>anelle) associated protein 7 pseudog>gg>ene

Rg>Gg>S16 Gene

reg>gg>ulator of g>Gg>-protein sig>gg>naling>gg> 16

The protein encoded by this g>gg>ene belong>gg>s to the 'reg>gg>ulator of g>Gg> protein sig>gg>naling>gg>' family. It inhibits sig>gg>nal transduction by increasing>gg> the g>Gg>TPase activity of g>Gg> protein alpha subunits. It also may play a role in reg>gg>ulating>gg> the kinetics of sig>gg>naling>gg> in the phototransduction cascade. [provided by RefSeq, Jul 2008]

Rg>Gg>S17 Gene

reg>gg>ulator of g>Gg>-protein sig>gg>naling>gg> 17

This g>gg>ene encodes a member of the reg>gg>ulator of g>Gg>-protein sig>gg>naling>gg> family. This protein contains a conserved, 120 amino acid motif called the Rg>Gg>S domain and a cysteine-rich reg>gg>ion. The protein attenuates the sig>gg>naling>gg> activity of g>Gg>-proteins by binding>gg> to activated, g>Gg>TP-bound g>Gg> alpha subunits and acting>gg> as a g>Gg>TPase activating>gg> protein (g>Gg>AP), increasing>gg> the rate of conversion of the g>Gg>TP to g>Gg>DP. This hydrolysis allows the g>Gg> alpha subunits to bind g>Gg> beta/g>gg>amma subunit heterodimers, forming>gg> inactive g>Gg>-protein heterotrimers, thereby terminating>gg> the sig>gg>nal. [provided by RefSeq, Jul 2008]

Rg>Gg>S14 Gene

reg>gg>ulator of g>Gg>-protein sig>gg>naling>gg> 14

This g>gg>ene encodes a member of the reg>gg>ulator of g>Gg>-protein sig>gg>naling>gg> family. This protein contains one Rg>Gg>S domain, two Raf-like Ras-binding>gg> domains (RBDs), and one g>Gg>oLoco domain. The protein attenuates the sig>gg>naling>gg> activity of g>Gg>-proteins by binding>gg>, throug>gg>h its g>Gg>oLoco domain, to specific types of activated, g>Gg>TP-bound g>Gg> alpha subunits. Acting>gg> as a g>Gg>TPase activating>gg> protein (g>Gg>AP), the protein increases the rate of conversion of the g>Gg>TP to g>Gg>DP. This hydrolysis allows the g>Gg> alpha subunits to bind g>Gg> beta/g>gg>amma subunit heterodimers, forming>gg> inactive g>Gg>-protein heterotrimers, thereby terminating>gg> the sig>gg>nal. Alternate transcriptional splice variants of this g>gg>ene have been observed but have not been thoroug>gg>hly characterized. [provided by RefSeq, Jul 2008]

Rg>Gg>S12 Gene

reg>gg>ulator of g>Gg>-protein sig>gg>naling>gg> 12

This g>gg>ene encodes a member of the 'reg>gg>ulator of g>Gg> protein sig>gg>naling>gg>' (Rg>Gg>S) g>gg>ene family. The encoded protein may function as a g>gg>uanosine triphosphatase (g>Gg>TPase)-activating>gg> protein as well as a transcriptional repressor. This protein may play a role in tumorig>gg>enesis. Multiple transcript variants encoding>gg> distinct isoforms have been identified for this g>gg>ene. Other alternative splice variants have been described but their biolog>gg>ical nature has not been determined. [provided by RefSeq, Jul 2008]

Rg>Gg>S13 Gene

reg>gg>ulator of g>Gg>-protein sig>gg>naling>gg> 13

The protein encoded by this g>gg>ene is a member of the reg>gg>ulator of g>Gg> protein sig>gg>naling>gg> (Rg>Gg>S) family. Rg>Gg>S family members share similarity with S. cerevisiae SST2 and C. eleg>gg>ans eg>gg>l-10 proteins, which contain a characteristic conserved Rg>Gg>S domain. Rg>Gg>S proteins accelerate g>Gg>TPase activity of g>Gg> protein alpha-subunits, thereby driving>gg> g>Gg> protein into their inactive g>Gg>DP-bound form, thus neg>gg>atively reg>gg>ulating>gg> g>Gg> protein sig>gg>naling>gg>. Rg>Gg>S proteins have been implicated in the fine tuning>gg> of a variety of cellular events in response to g>Gg> g>protein-coupledg> g>receptorg> activation. The biolog>gg>ical function of this g>gg>ene, however, is unknown. Two transcript variants encoding>gg> the same isoform exist. [provided by RefSeq, Jul 2008]

Rg>Gg>S10 Gene

reg>gg>ulator of g>Gg>-protein sig>gg>naling>gg> 10

Reg>gg>ulator of g>Gg> protein sig>gg>naling>gg> (Rg>Gg>S) family members are reg>gg>ulatory molecules that act as g>Gg>TPase activating>gg> proteins (g>Gg>APs) for g>Gg> alpha subunits of heterotrimeric g>Gg> proteins. Rg>Gg>S proteins are able to deactivate g>Gg> protein subunits of the g>Gg>i alpha, g>Gg>o alpha and g>Gg>q alpha subtypes. They drive g>Gg> proteins into their inactive g>Gg>DP-bound forms. Reg>gg>ulator of g>Gg> protein sig>gg>naling>gg> 10 belong>gg>s to this family. All Rg>Gg>S proteins share a conserved 120-amino acid sequence termed the Rg>Gg>S domain. This protein associates specifically with the activated forms of the two related g>Gg>-protein subunits, g>Gg>-alphai3 and g>Gg>-alphaz but fails to interact with the structurally and functionally distinct g>Gg>-alpha subunits. Reg>gg>ulator of g>Gg> protein sig>gg>naling>gg> 10 protein is localized in the nucleus. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

Rg>Gg>S11 Gene

reg>gg>ulator of g>Gg>-protein sig>gg>naling>gg> 11

The protein encoded by this g>gg>ene belong>gg>s to the Rg>Gg>S (reg>gg>ulator of g>Gg> protein sig>gg>naling>gg>) family. Members of the Rg>Gg>S family act as g>Gg>TPase-activating>gg> proteins on the alpha subunits of heterotrimeric, sig>gg>nal-transducing>gg> g>Gg> proteins. This protein inhibits sig>gg>nal transduction by increasing>gg> the g>Gg>TPase activity of g>Gg> protein alpha subunits, thereby driving>gg> them into their inactive g>Gg>DP-bound form. Alternative splicing>gg> occurs at this locus and four transcript variants encoding>gg> distinct isoforms have been identified. [provided by RefSeq, Nov 2013]

Rg>Gg>S18 Gene

reg>gg>ulator of g>Gg>-protein sig>gg>naling>gg> 18

This g>gg>ene encodes a member of the reg>gg>ulator of g>Gg>-protein sig>gg>naling>gg> family. This protein is contains a conserved, 120 amino acid motif called the Rg>Gg>S domain. The protein attenuates the sig>gg>naling>gg> activity of g>Gg>-proteins by binding>gg> to activated, g>Gg>TP-bound g>Gg> alpha subunits and acting>gg> as a g>Gg>TPase activating>gg> protein (g>Gg>AP), increasing>gg> the rate of conversion of the g>Gg>TP to g>Gg>DP. This hydrolysis allows the g>Gg> alpha subunits to bind g>Gg> beta/g>gg>amma subunit heterodimers, forming>gg> inactive g>Gg>-protein heterotrimers, thereby terminating>gg> the sig>gg>nal. Alternate transcriptional splice variants of this g>gg>ene have been observed but have not been thoroug>gg>hly characterized. [provided by RefSeq, Jul 2008]

Rg>Gg>S19 Gene

reg>gg>ulator of g>Gg>-protein sig>gg>naling>gg> 19

g>Gg> proteins mediate a number of cellular processes. The protein encoded by this g>gg>ene belong>gg>s to the Rg>Gg>S (reg>gg>ulators of g>Gg>-protein sig>gg>naling>gg>) family and specifically interacts with g>Gg> protein, g>Gg>AI3. This protein is a g>gg>uanosine triphosphatase-activating>gg> protein that functions to down-reg>gg>ulate g>Gg>alpha i/g>Gg>alpha q-linked sig>gg>naling>gg>. Alternatively spliced transcript variants encoding>gg> the same protein isoform have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

VANg>Gg>L1 Gene

VANg>Gg>L planar cell polarity protein 1

This g>gg>ene encodes a member of the tretraspanin family. The encoded protein may be involved in mediating>gg> intestinal trefoil factor induced wound healing>gg> in the intestinal mucosa. Mutations in this g>gg>ene are associated with neural tube defects. Alternate splicing>gg> results in multiple transcript variants. [provided by RefSeq, Feb 2010]

LOC101060476 Gene

putative uncharacterized protein FLJ44672

PLAA Gene

phospholipase A2-activating>gg> protein

Predicted to enable ubiquitin binding>gg> activity. Involved in cellular response to lipopolysaccharide; macroautophag>gg>y; and positive reg>gg>ulation of phospholipase A2 activity. Located in cytoplasm; extracellular exosome; and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC101930552 Gene

zinc fing>gg>er protein 717-like

ESRP1 Gene

epithelial splicing>gg> reg>gg>ulatory protein 1

ESPR1 is an epithelial cell-type-specific splicing>gg> reg>gg>ulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug>gg> 2009]

LOC105371752 Gene

proline-rich protein 36-like

RBM22P11 Gene

RNA binding>gg> motif protein 22 pseudog>gg>ene 11

RBM22P12 Gene

RNA binding>gg> motif protein 22 pseudog>gg>ene 12

RBM22P13 Gene

RNA binding>gg> motif protein 22 pseudog>gg>ene 13

MZT2A Gene

mitotic spindle org>gg>anizing>gg> protein 2A

Located in centrosome; cytosol; and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MZT2B Gene

mitotic spindle org>gg>anizing>gg> protein 2B

Located in cytosol; microtubule cytoskeleton; and nucleoplasm. Part of g>gg>amma-tubulin ring>gg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF709 Gene

zinc fing>gg>er protein 709

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF708 Gene

zinc fing>gg>er protein 708

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in membrane and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF703 Gene

zinc fing>gg>er protein 703

Predicted to enable DNA-binding>gg> transcription factor binding>gg> activity and metal ion binding>gg> activity. Involved in several processes, including>gg> cellular response to estradiol stimulus; positive reg>gg>ulation of mammary g>gg>land epithelial cell proliferation; and reg>gg>ulation of transforming>gg> g>gg>rowth factor beta g>receptorg> sig>gg>naling>gg> pathway. Located in cytoplasm and nuclear matrix. Part of protein-containing>gg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF701 Gene

zinc fing>gg>er protein 701

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF700 Gene

zinc fing>gg>er protein 700

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF707 Gene

zinc fing>gg>er protein 707

Predicted to enable DNA-binding>gg> transcription factor activity and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF706 Gene

zinc fing>gg>er protein 706

Predicted to enable metal ion binding>gg> activity. Predicted to be involved in neg>gg>ative reg>gg>ulation of DNA-templated transcription and neg>gg>ative reg>gg>ulation of stem cell population maintenance. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF704 Gene

zinc fing>gg>er protein 704

Enables sequence-specific double-stranded DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RNF115 Gene

ring>gg> fing>gg>er protein 115

Enables ubiquitin protein lig>gg>ase activity. Involved in neg>gg>ative reg>gg>ulation of sig>gg>nal transduction; protein ubiquitination; and ubiquitin-dependent protein catabolic process via the multivesicular body sorting>gg> pathway. Is active in endoplasmic reticulum. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RNF112 Gene

ring>gg> fing>gg>er protein 112

This g>gg>ene encodes a member of the RINg>Gg> fing>gg>er protein family of transcription factors. The protein is primarily expressed in brain. The g>gg>ene is located within the Smith-Mag>gg>enis syndrome reg>gg>ion on chromosome 17. [provided by RefSeq, Jul 2008]

RNF111 Gene

ring>gg> fing>gg>er protein 111

The protein encoded by this g>gg>ene is a nuclear RINg>Gg>-domain containing>gg> E3 ubiquitin lig>gg>ase. This protein interacts with the transforming>gg> g>gg>rowth factor (Tg>Gg>F) -beta/NODAL sig>gg>naling>gg> pathway by promoting>gg> the ubiquitination and proteosomal deg>gg>radation of neg>gg>ative reg>gg>ulators, like SMAD proteins, and thereby enhances Tg>Gg>F-beta targ>gg>et-g>gg>ene transcription. As a modulator of the nodal sig>gg>naling>gg> cascade, this g>gg>ene plays a critical role in the induction of mesoderm during>gg> embryonic development. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants encoding>gg> distinct isoforms. [provided by RefSeq, Jul 2012]

LOC100996763 Gene

notch homolog>gg> 2 N-terminal-like protein

Enables Notch binding>gg> activity. Involved in cerebral cortex development and positive reg>gg>ulation of Notch sig>gg>naling>gg> pathway. Located in extracellular reg>gg>ion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100421730 Gene

transmembrane emp24 domain trafficking>gg> protein 2 pseudog>gg>ene

NOP2 Gene

NOP2 nucleolar protein

Enables rRNA (cytosine-C5-)-methyltransferase activity. Involved in positive reg>gg>ulation of cell population proliferation; reg>gg>ulation of sig>gg>nal transduction by p53 class mediator; and ribosome biog>gg>enesis. Located in nucleolus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL39P30 Gene

ribosomal protein L39 pseudog>gg>ene 30

H19 Gene

H19, imprinted maternally expressed transcript (non-protein coding>gg>)

This g>gg>ene is located in an imprinted reg>gg>ion of chromosome 11 near the insulin-like g>gg>rowth factor 2 (Ig>Gg>F2) g>gg>ene. This g>gg>ene is only expressed from the maternally-inherited chromosome, whereas Ig>Gg>F2 is only expressed from the paternally-inherited chromosome. The product of this g>gg>ene is a long>gg> non-coding>gg> RNA which functions as a tumor suppressor. Mutations in this g>gg>ene have been associated with Beckwith-Wiedemann Syndrome and Wilms tumorig>gg>enesis. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Apr 2015]

LOC101929530 Gene

Fanconi anemia g>gg>roup D2 protein-like

LINC00448 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 448

Mg>Gg>RN1 Gene

mahog>gg>unin ring>gg> fing>gg>er 1, E3 ubiquitin protein lig>gg>ase

Enables ubiquitin-protein transferase activity. Involved in endosome to lysosome transport; neg>gg>ative reg>gg>ulation of adenylate cyclase-activating>gg> g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway; and protein monoubiquitination. Located in several cellular components, including>gg> early endosome; endoplasmic reticulum; and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RBMXL1 Gene

RNA binding>gg> motif protein, X-linked-like 1

This g>gg>ene represents a retrog>gg>ene of RNA binding>gg> motif protein, X-linked (RBMX), which is located on chromosome X. While all introns in the coding>gg> sequence have been processed out compared to the RBMX locus, the ORF is intact and there is specific evidence for transcription at this location. The preservation of the ORF by purifying>gg> selection in all Old World monkeys carrying>gg> it sug>gg>g>gg>ests that this locus is likely to be functional, possibly during>gg> male meiosis when X chromosomal g>gg>enes are silenced or during>gg> haploid stag>gg>es of spermatog>gg>enesis. This g>gg>ene shares 5' exon structure with the cysteine conjug>gg>ate-beta lyase 2 locus on chromosome 1, but the coding>gg> sequences are non-overlapping>gg>. Alternative splicing>gg> results in two transcript variants. [provided by RefSeq, Jun 2009]

RBMXL3 Gene

RNA binding>gg> motif protein, X-linked-like 3

Predicted to enable mRNA binding>gg> activity and snRNA binding>gg> activity. Predicted to be involved in mRNA splicing>gg>, via spliceosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RBMXL2 Gene

RNA binding>gg> motif protein, X-linked-like 2

This g>gg>ene belong>gg>s to the HNRPg>Gg> subfamily of ubiquitously expressed heterog>gg>eneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding>gg> proteins and they complex with heterog>gg>eneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing>gg> and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding>gg> properties. The protein encoded by this g>gg>ene has two RRM domains that bind RNAs. This g>gg>ene is intronless and is thoug>gg>ht to be derived from a processed retroposon. However, unlike many retroposon-derived g>gg>enes, this g>gg>ene is not a pseudog>gg>ene. The encoded protein has similarity to HNRPg>Gg> and RBMY proteins and it is sug>gg>g>gg>ested to replace HNRPg>Gg> protein function during>gg> meiotic prophase or act as a g>gg>erm cell-specific splicing>gg> reg>gg>ulator. It primarily localizes to the nuclei of meiotic spermatocytes. This g>gg>ene is a candidate for autosomal male infertility. [provided by RefSeq, Jul 2008]

SMKR1 Gene

small lysine-rich protein 1

PNN Gene

pinin, desmosome associated protein

Enables RNA binding>gg> activity. Predicted to be involved in cell adhesion and mRNA splicing>gg>, via spliceosome. Predicted to act upstream of or within cell-cell adhesion. Located in exon-exon junction complex and nuclear speck. Part of catalytic step 2 spliceosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC645262 Gene

phosphodiesterase 4D interacting>gg> protein-like

LOC101930132 Gene

pollen-specific leucine-rich repeat extensin-like protein 1

RPL7AP24 Gene

ribosomal protein L7a pseudog>gg>ene 24

RPL7AP25 Gene

ribosomal protein L7a pseudog>gg>ene 25

RPL7AP27 Gene

ribosomal protein L7a pseudog>gg>ene 27

RPL7AP20 Gene

ribosomal protein L7a pseudog>gg>ene 20

RPL7AP21 Gene

ribosomal protein L7a pseudog>gg>ene 21

RPL7AP22 Gene

ribosomal protein L7a pseudog>gg>ene 22

RPL7AP23 Gene

ribosomal protein L7a pseudog>gg>ene 23

RPL7AP28 Gene

ribosomal protein L7a pseudog>gg>ene 28

RPL7AP29 Gene

ribosomal protein L7a pseudog>gg>ene 29

CHFR Gene

checkpoint with forkhead and ring>gg> fing>gg>er domains, E3 ubiquitin protein lig>gg>ase

This g>gg>ene encodes an E3 ubiquitin-protein lig>gg>ase required for the maintenance of the antephase checkpoint that reg>gg>ulates cell cycle entry into mitosis and, therefore, may play a key role in cell cycle prog>gg>ression and tumorig>gg>enesis. The encoded protein has an N-terminal forkhead-associated domain, a central RINg>Gg>-fing>gg>er domain, and a cysteine-rich C-terminal reg>gg>ion. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Mar 2014]

RFPL1 Gene

ret fing>gg>er protein-like 1

Predicted to enable protein homodimerization activity; protein kinase binding>gg> activity; and ubiquitin protein lig>gg>ase activity. Involved in several processes, including>gg> neg>gg>ative reg>gg>ulation of g>Gg>2/M transition of mitotic cell cycle; neg>gg>ative reg>gg>ulation of cell division; and positive reg>gg>ulation of proteolysis. Located in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP5-13P Gene

keratin associated protein 5-13, pseudog>gg>ene

APP Gene

amyloid beta (A4) precursor protein

This g>gg>ene encodes a cell surface g>receptorg> and transmembrane precursor protein that is cleaved by secretases to form a number of peptides. Some of these peptides are secreted and can bind to the acetyltransferase complex APBB1/TIP60 to promote transcriptional activation, while others form the protein basis of the amyloid plaques found in the brains of patients with Alzheimer disease. In addition, two of the peptides are antimicrobial peptides, having>gg> been shown to have bacteriocidal and antifung>gg>al activities. Mutations in this g>gg>ene have been implicated in autosomal dominant Alzheimer disease and cerebroarterial amyloidosis (cerebral amyloid ang>gg>iopathy). Multiple transcript variants encoding>gg> several different isoforms have been found for this g>gg>ene. [provided by RefSeq, Aug>gg> 2014]

TMEM179B Gene

transmembrane protein 179B

Located in nuclear speck and nucleolus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF56 Gene

zinc fing>gg>er protein 56

ZNF57 Gene

zinc fing>gg>er protein 57

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

Ig>Gg>FBP2 Gene

insulin-like g>gg>rowth factor binding>gg> protein 2, 36kDa

The protein encoded by this g>gg>ene is one of six similar proteins that bind insulin-like g>gg>rowth factors I and II (Ig>Gg>F-I and Ig>Gg>F-II). The encoded protein can be secreted into the bloodstream, where it binds Ig>Gg>F-I and Ig>Gg>F-II with hig>gg>h affinity, or it can remain intracellular, interacting>gg> with many different lig>gg>ands. Hig>gg>h expression levels of this protein promote the g>gg>rowth of several types of tumors and may be predictive of the chances of recovery of the patient. Several transcript variants, one encoding>gg> a secreted isoform and the others encoding>gg> nonsecreted isoforms, have been found for this g>gg>ene. [provided by RefSeq, Sep 2015]

Ig>Gg>FBP3 Gene

insulin-like g>gg>rowth factor binding>gg> protein 3

This g>gg>ene is a member of the insulin-like g>gg>rowth factor binding>gg> protein (Ig>Gg>FBP) family and encodes a protein with an Ig>Gg>FBP domain and a thyrog>gg>lobulin type-I domain. The protein forms a ternary complex with insulin-like g>gg>rowth factor acid-labile subunit (Ig>Gg>FALS) and either insulin-like g>gg>rowth factor (Ig>Gg>F) I or II. In this form, it circulates in the plasma, prolong>gg>ing>gg> the half-life of Ig>Gg>Fs and altering>gg> their interaction with cell surface g>receptorg>s. Alternate transcriptional splice variants, encoding>gg> different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

Ig>Gg>FBP1 Gene

insulin-like g>gg>rowth factor binding>gg> protein 1

This g>gg>ene is a member of the insulin-like g>gg>rowth factor binding>gg> protein (Ig>Gg>FBP) family and encodes a protein with an Ig>Gg>FBP N-terminal domain and a thyrog>gg>lobulin type-I domain. The encoded protein, mainly expressed in the liver, circulates in the plasma and binds both insulin-like g>gg>rowth factors (Ig>Gg>Fs) I and II, prolong>gg>ing>gg> their half-lives and altering>gg> their interaction with cell surface g>receptorg>s. This protein is important in cell mig>gg>ration and metabolism. Low levels of this protein may be associated with impaired g>gg>lucose tolerance, vascular disease and hypertension in human patients. [provided by RefSeq, Aug>gg> 2017]

Ig>Gg>FBP7 Gene

insulin-like g>gg>rowth factor binding>gg> protein 7

This g>gg>ene encodes a member of the insulin-like g>gg>rowth factor (Ig>Gg>F)-binding>gg> protein (Ig>Gg>FBP) family. Ig>Gg>FBPs bind Ig>Gg>Fs with hig>gg>h affinity, and reg>gg>ulate Ig>Gg>F availability in body fluids and tissues and modulate Ig>Gg>F binding>gg> to its g>receptorg>s. This protein binds Ig>Gg>F-I and Ig>Gg>F-II with relatively low affinity, and belong>gg>s to a subfamily of low-affinity Ig>Gg>FBPs. It also stimulates prostacyclin production and cell adhesion. Alternatively spliced transcript variants encoding>gg> different isoforms have been described for this g>gg>ene, and one variant has been associated with retinal arterial macroaneurysm (PMID:21835307). [provided by RefSeq, Dec 2011]

Ig>Gg>FBP4 Gene

insulin-like g>gg>rowth factor binding>gg> protein 4

This g>gg>ene is a member of the insulin-like g>gg>rowth factor binding>gg> protein (Ig>Gg>FBP) family and encodes a protein with an Ig>Gg>FBP domain and a thyrog>gg>lobulin type-I domain. The protein binds both insulin-like g>gg>rowth factors (Ig>Gg>Fs) I and II and circulates in the plasma in both g>gg>lycosylated and non-g>gg>lycosylated forms. Binding>gg> of this protein prolong>gg>s the half-life of the Ig>Gg>Fs and alters their interaction with cell surface g>receptorg>s. [provided by RefSeq, Jul 2008]

Ig>Gg>FBP5 Gene

insulin-like g>gg>rowth factor binding>gg> protein 5

Enables insulin-like g>gg>rowth factor I binding>gg> activity and g>receptorg> lig>gg>and activity. Involved in several processes, including>gg> cellular response to cAMP; reg>gg>ulation of smooth muscle cell mig>gg>ration; and reg>gg>ulation of smooth muscle cell proliferation. Part of insulin-like g>gg>rowth factor ternary complex. Biomarker of pulmonary fibrosis. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TXNIP Gene

thioredoxin interacting>gg> protein

This g>gg>ene encodes a thioredoxin-binding>gg> protein that is a member of the alpha arrestin protein family. Thioredoxin is a thiol-oxidoreductase that is a major reg>gg>ulator of cellular redox sig>gg>naling>gg> which protects cells from oxidative stress. This protein inhibits the antioxidative function of thioredoxin resulting>gg> in the accumulation of reactive oxyg>gg>en species and cellular stress. This protein also functions as a reg>gg>ulator of cellular metabolism and of endoplasmic reticulum (ER) stress. This protein may also function as a tumor suppressor. Alternate splicing>gg> results in multiple transcript variants. [provided by RefSeq, Sep 2015]

RPL7P37 Gene

ribosomal protein L7 pseudog>gg>ene 37

LOC105369252 Gene

hepatocyte g>gg>rowth factor-like protein

LOC101060327 Gene

protein FAM231B-like

SECISBP2L Gene

SECIS binding>gg> protein 2-like

Enables RNA binding>gg> activity. Predicted to be part of ribonucleoprotein complex. Predicted to be active in mitochondrion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF7 Gene

zinc fing>gg>er protein 7

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in membrane. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF4 Gene

zinc fing>gg>er protein-4

ZNF5 Gene

zinc fing>gg>er protein-5

ZNF2 Gene

zinc fing>gg>er protein 2

The protein encoded by this g>gg>ene belong>gg>s to the C2H2-type zinc-fing>gg>er protein family. The exact function of this g>gg>ene is not known, however, zinc-fing>gg>er proteins are known to interact with DNA and function as transcription reg>gg>ulators. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Apr 2014]

ZNF3 Gene

zinc fing>gg>er protein 3

Enables identical protein binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

Pg>Gg>g>Gg>T1BP1 Gene

protein g>gg>eranylg>gg>eranyltransferase type I, beta subunit pseudog>gg>ene 1

CTCFL Gene

CCCTC-binding>gg> factor (zinc fing>gg>er protein)-like

CCCTC-binding>gg> factor (CTCF), an 11-zinc-fing>gg>er factor involved in g>gg>ene reg>gg>ulation, utilizes different zinc fing>gg>ers to bind varying>gg> DNA targ>gg>et sites. CTCF forms methylation-sensitive insulators that reg>gg>ulate X-chromosome inactivation. This g>gg>ene is a paralog>gg> of CTCF and appears to be expressed primarily in the cytoplasm of spermatocytes, unlike CTCF which is expressed primarily in the nucleus of somatic cells. CTCF and the protein encoded by this g>gg>ene are normally expressed in a mutually exclusive pattern that correlates with resetting>gg> of methylation marks during>gg> male g>gg>erm cell differentiation. Multiple alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jun 2012]

ZNF8 Gene

zinc fing>gg>er protein 8

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II. Predicted to act upstream of or within BMP sig>gg>naling>gg> pathway. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NDE1P1 Gene

nudE neurodevelopment protein 1 pseudog>gg>ene 1

NIM1K Gene

NIM1 serine/threonine protein kinase

Enables ATP binding>gg> activity; mag>gg>nesium ion binding>gg> activity; and protein serine/threonine kinase activity. Involved in protein phosphorylation. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PAg>Gg>R1 Gene

PAXIP1 associated g>gg>lutamate-rich protein 1

Enables nuclear estrog>gg>en g>receptorg> binding>gg> activity. Involved in positive reg>gg>ulation of cell cycle g>Gg>1/S phase transition; positive reg>gg>ulation of intracellular estrog>gg>en g>receptorg> sig>gg>naling>gg> pathway; and positive reg>gg>ulation of transcription by RNA polymerase II. Located in nucleus. Part of MLL3/4 complex. Biomarker of esophag>gg>us squamous cell carcinoma. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC643387 Gene

TAR DNA binding>gg> protein pseudog>gg>ene

LOC643381 Gene

zinc fing>gg>er protein 614 pseudog>gg>ene

g>Gg>AB4 Gene

g>Gg>RB2-associated binding>gg> protein family, member 4

Predicted to enable transmembrane g>receptorg> protein tyrosine kinase adaptor activity. Predicted to be involved in sig>gg>nal transduction. Predicted to be active in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>AB2 Gene

g>Gg>RB2-associated binding>gg> protein 2

This g>gg>ene is a member of the g>Gg>RB2-associated binding>gg> protein (g>Gg>AB) g>gg>ene family. These proteins contain pleckstrin homolog>gg>y (PH) domain, and bind SHP2 tyrosine phosphatase and g>Gg>RB2 adapter protein. They act as adapters for transmitting>gg> various sig>gg>nals in response to stimuli throug>gg>h cytokine and g>gg>rowth factor g>receptorg>s, and T- and B-cell antig>gg>en g>receptorg>s. The protein encoded by this g>gg>ene is the principal activator of phosphatidylinositol-3 kinase in response to activation of the hig>gg>h affinity Ig>gg>E g>receptorg>. Two alternatively spliced transcripts encoding>gg> different isoforms have been described for this g>gg>ene. [provided by RefSeq, Nov 2009]

g>Gg>AB3 Gene

g>Gg>RB2-associated binding>gg> protein 3

This g>gg>ene is a member of the g>Gg>RB2-associated binding>gg> protein g>gg>ene family. These proteins are scaffolding>gg>/docking>gg> proteins that are involved in several g>gg>rowth factor and cytokine sig>gg>naling>gg> pathways, and they contain a pleckstrin homolog>gg>y domain, and bind SHP2 tyrosine phosphatase and g>Gg>RB2 adapter protein. The protein encoded by this g>gg>ene facilitates macrophag>gg>e differentiation. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Aug>gg> 2013]

g>Gg>AB1 Gene

g>Gg>RB2-associated binding>gg> protein 1

The protein encoded by this g>gg>ene is a member of the IRS1-like multisubstrate docking>gg> protein family. It is an important mediator of branching>gg> tubulog>gg>enesis and plays a central role in cellular g>gg>rowth response, transformation and apoptosis. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Aug>gg> 2008]

FAM230B Gene

family with sequence similarity 230, member B (non-protein coding>gg>)

PCTP Gene

phosphatidylcholine transfer protein

Enables phosphatidylcholine binding>gg> activity and phosphatidylcholine transporter activity. Involved in phospholipid transport. Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP24-1 Gene

keratin associated protein 24-1

Predicted to enable structural molecule activity. Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP19-2 Gene

keratin associated protein 19-2

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP19-3 Gene

keratin associated protein 19-3

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP19-1 Gene

keratin associated protein 19-1

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP19-6 Gene

keratin associated protein 19-6

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP19-7 Gene

keratin associated protein 19-7

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP19-4 Gene

keratin associated protein 19-4

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP19-5 Gene

keratin associated protein 19-5

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP19-8 Gene

keratin associated protein 19-8

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TTTY23B Gene

testis-specific transcript, Y-linked 23B (non-protein coding>gg>)

CFAP36 Gene

cilia and flag>gg>ella associated protein 36

Located in ciliary transition zone. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MRPS23P1 Gene

mitochondrial ribosomal protein S23 pseudog>gg>ene 1

BANCR Gene

BRAF-activated non-protein coding>gg> RNA

This g>gg>ene produces a long>gg> non-coding>gg> RNA that plays a role in tumor prog>gg>ression and epithelial to mesenchymal transition. This transcript acts throug>gg>h the MAP kinase sig>gg>naling>gg> pathway. [provided by RefSeq, Dec 2017]

LOC100533636 Gene

zinc fing>gg>er protein 519 pseudog>gg>ene

XBP1P1 Gene

X-box binding>gg> protein 1 pseudog>gg>ene 1

RHPN1 Gene

rhophilin, Rho g>Gg>TPase binding>gg> protein 1

Predicted to be involved in neg>gg>ative reg>gg>ulation of stress fiber assembly. Predicted to act upstream of or within several processes, including>gg> focal adhesion assembly; g>gg>lomerular filtration; and renal albumin absorption. Predicted to be located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FLJ35700 Gene

uncharacterized protein FLJ35700

RSBN1 Gene

round spermatid basic protein 1

Predicted to enable histone H4K20 demethylase activity and metal ion binding>gg> activity. Predicted to be involved in chromatin remodeling>gg>. Predicted to be located in endoplasmic reticulum. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ARHg>Gg>AP23 Gene

Rho g>Gg>TPase activating>gg> protein 23

The RHO (see ARHA; MIM 165390) family of small g>Gg>TPases are involved in sig>gg>nal transduction throug>gg>h transmembrane g>receptorg>s, and they are inactive in the g>Gg>DP-bound form and active in the g>Gg>TP-bound form. g>Gg>TPase-activating>gg> proteins, such as ARHg>Gg>AP23, inactivate RHO family proteins by stimulating>gg> their hydrolysis of g>Gg>TP (Katoh and Katoh, 2004 [PubMed 15254754]).[supplied by OMIM, Mar 2008]

ARHg>Gg>AP22 Gene

Rho g>Gg>TPase activating>gg> protein 22

This g>gg>ene encodes a member of the g>Gg>TPase activating>gg> protein family which activates a g>Gg>TPase belong>gg>ing>gg> to the RAS superfamily of small g>Gg>TP-binding>gg> proteins. The encoded protein is insulin-responsive, is dependent on the kinase Akt and requires the Akt-dependent 14-3-3 binding>gg> protein which binds sequentially to two serine residues. The result of these interactions is reg>gg>ulation of cell motility. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Dec 2011]

ARHg>Gg>AP21 Gene

Rho g>Gg>TPase activating>gg> protein 21

ARHg>Gg>AP21 functions preferentially as a g>Gg>TPase-activating>gg> protein (g>Gg>AP) for CDC42 (MIM 116952) and reg>gg>ulates the ARP2/3 complex (MIM 604221) and F-actin dynamics at the g>Gg>olg>gg>i throug>gg>h control of CDC42 activity (Dubois et al., 2005 [PubMed 15793564]).[supplied by OMIM, Mar 2008]

ARHg>Gg>AP20 Gene

Rho g>Gg>TPase activating>gg> protein 20

The protein encoded by this g>gg>ene is an activator of RHO-type g>Gg>TPases, transducing>gg> a sig>gg>nal from RAP1 to RHO and impacting>gg> neurite outg>gg>rowth. [provided by RefSeq, Sep 2016]

ARHg>Gg>AP27 Gene

Rho g>Gg>TPase activating>gg> protein 27

This g>gg>ene encodes a member of a larg>gg>e family of proteins that activate Rho-type g>gg>uanosine triphosphate (g>Gg>TP) metabolizing>gg> enzymes. The encoded protein may pay a role in clathrin-mediated endocytosis. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Aug>gg> 2013]

ARHg>Gg>AP26 Gene

Rho g>Gg>TPase activating>gg> protein 26

Interaction of a cell with the extracellular matrix trig>gg>g>gg>ers integ>gg>rin cell surface g>receptorg>s to beg>gg>in sig>gg>naling>gg> cascades that reg>gg>ulate the org>gg>anization of the actin-cytoskeleton. One of the proteins involved in these cascades is focal adhesion kinase. The protein encoded by this g>gg>ene is a g>Gg>TPase activating>gg> protein that binds to focal adhesion kinase and mediates the activity of the g>Gg>TP binding>gg> proteins RhoA and Cdc42. Defects in this g>gg>ene are a cause of juvenile myelomonocytic leukemia (JMML). Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Mar 2017]

ARHg>Gg>AP25 Gene

Rho g>Gg>TPase activating>gg> protein 25

ARHg>Gg>APs, such as ARHg>Gg>AP25, encode neg>gg>ative reg>gg>ulators of Rho g>Gg>TPases (see ARHA; MIM 165390), which are implicated in actin remodeling>gg>, cell polarity, and cell mig>gg>ration (Katoh and Katoh, 2004 [PubMed 15254788]).[supplied by OMIM, Mar 2008]

ARHg>Gg>AP24 Gene

Rho g>Gg>TPase activating>gg> protein 24

This g>gg>ene encodes a Rho-g>Gg>TPase activating>gg> protein, which is specific for the small g>Gg>TPase family member Rac. Binding>gg> of the encoded protein by filamin A targ>gg>ets it to sites of membrane protrusion, where it antog>gg>nizes Rac. This results in suppression of lamellae formation and promotion of retraction to reg>gg>ulate cell polarity. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Sep 2016]

ARHg>Gg>AP29 Gene

Rho g>Gg>TPase activating>gg> protein 29

Rap1 is a small g>Gg>TPase that, throug>gg>h effectors, reg>gg>ulates Rho g>Gg>TPase sig>gg>naling>gg>. These effectors- Rasip1, Radil, and the protein encoded by this g>gg>ene- translocate to the cell membrane, where they form a multiprotein complex. This complex is necessary for Rap1-induced inhibition of Rho sig>gg>naling>gg>. Defects in this g>gg>ene may be a cause of nonsyndromic cleft lip with or without cleft palate. [provided by RefSeq, Jun 2016]

ARHg>Gg>AP28 Gene

Rho g>Gg>TPase activating>gg> protein 28

Predicted to enable g>Gg>TPase activator activity. Predicted to be involved in neg>gg>ative reg>gg>ulation of stress fiber assembly; reg>gg>ulation of actin filament polymerization; and reg>gg>ulation of small g>Gg>TPase mediated sig>gg>nal transduction. Located in cell junction and nucleoplasm. Implicated in allerg>gg>ic disease. Biomarker of mening>gg>ioma. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100420896 Gene

UPF0607 protein ENSP00000381418-like pseudog>gg>ene

LOC100420895 Gene

fibrous sheath-interacting>gg> protein 2 pseudog>gg>ene

SCOCP1 Gene

short coiled-coil protein pseudog>gg>ene 1

LOC100420760 Gene

coronin, actin binding>gg> protein, 1C pseudog>gg>ene

LOC101930332 Gene

autism susceptibility g>gg>ene 2 protein-like

LOC100421385 Gene

testin LIM domain protein pseudog>gg>ene

DAP4C Gene

death-associated protein 4C

KRTAP5-10 Gene

keratin associated protein 5-10

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP5-11 Gene

keratin associated protein 5-11

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TSNAXIP1 Gene

translin-associated factor X interacting>gg> protein 1

Predicted to be involved in cell differentiation and spermatog>gg>enesis. Predicted to be located in perinuclear reg>gg>ion of cytoplasm. Predicted to be active in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF138 Gene

zinc fing>gg>er protein 138

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in membrane and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PRKACg>Gg> Gene

protein kinase, cAMP-dependent, catalytic, g>gg>amma

Cyclic AMP-dependent protein kinase (PKA) consists of two catalytic subunits and a reg>gg>ulatory subunit dimer. This g>gg>ene encodes the g>gg>amma form of its catalytic subunit. The g>gg>ene is intronless and is thoug>gg>ht to be a retrotransposon derived from the g>gg>ene for the alpha form of the PKA catalytic subunit. [provided by RefSeq, Jul 2008]

PRKACA Gene

protein kinase, cAMP-dependent, catalytic, alpha

This g>gg>ene encodes one of the catalytic subunits of protein kinase A, which exists as a tetrameric holoenzyme with two reg>gg>ulatory subunits and two catalytic subunits, in its inactive form. cAMP causes the dissociation of the inactive holoenzyme into a dimer of reg>gg>ulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different reg>gg>ulatory subunits and three catalytic subunits have been identified in humans. cAMP-dependent phosphorylation of proteins by protein kinase A is important to many cellular processes, including>gg> differentiation, proliferation, and apoptosis. Constitutive activation of this g>gg>ene caused either by somatic mutations, or g>gg>enomic duplications of reg>gg>ions that include this g>gg>ene, have been associated with hyperplasias and adenomas of the adrenal cortex and are linked to corticotropin-independent Cushing>gg>'s syndrome. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. Tissue-specific isoforms that differ at the N-terminus have been described, and these isoforms may differ in the post-translational modifications that occur at the N-terminus of some isoforms. [provided by RefSeq, Jan 2015]

PRKACB Gene

protein kinase, cAMP-dependent, catalytic, beta

The protein encoded by this g>gg>ene is a member of the serine/threonine protein kinase family. The encoded protein is a catalytic subunit of cAMP (cyclic AMP)-dependent protein kinase, which mediates sig>gg>nalling>gg> thoug>gg>h cAMP. cAMP sig>gg>naling>gg> is important to a number of processes, including>gg> cell proliferaton and differentiation. Multiple alternatively spliced transcript variants encoding>gg> distinct isoforms have been observed. [provided by RefSeq, Jul 2014]

ZNF132 Gene

zinc fing>gg>er protein 132

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF133 Gene

zinc fing>gg>er protein 133

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF134 Gene

zinc fing>gg>er protein 134

Predicted to enable DNA-binding>gg> transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II; reg>gg>ulation of cytokine production; and reg>gg>ulation of immune system process. Predicted to be located in nucleus. Predicted to be active in nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF135 Gene

zinc fing>gg>er protein 135

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Involved in cytoskeleton org>gg>anization and reg>gg>ulation of cell morphog>gg>enesis. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF136 Gene

zinc fing>gg>er protein 136

This g>gg>ene encodes a zinc fing>gg>er protein containing>gg> a Kruppel-associated box (KRAB) A-box domain at its N-terminus, followed by fourteen contig>gg>uous C2H2 zinc fing>gg>er domains and a deg>gg>enerate zinc fing>gg>er. The KRAB A-box showed weak transcriptional repressor activity in a reporter g>gg>ene assay. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Dec 2016]

LOC100418693 Gene

protein kinase, interferon-inducible double stranded RNA dependent activator pseudog>gg>ene

LOC100418692 Gene

N-ethylmaleimide-sensitive factor attachment protein, g>gg>amma pseudog>gg>ene

LOC100418690 Gene

N-ethylmaleimide-sensitive factor attachment protein, g>gg>amma pseudog>gg>ene

LOC100418694 Gene

protein kinase, interferon-inducible double stranded RNA dependent activator pseudog>gg>ene

RPL22P11 Gene

ribosomal protein L22 pseudog>gg>ene 11

PRINS Gene

psoriasis associated non-protein coding>gg> RNA induced by stress

SH3Bg>Gg>R Gene

SH3 domain binding>gg> g>gg>lutamate-rich protein

Predicted to enable SH3 domain binding>gg> activity. Predicted to be active in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF736P1Y Gene

zinc fing>gg>er protein 736 pseudog>gg>ene 1, Y-linked

MFg>Gg>E8 Gene

milk fat g>gg>lobule-Eg>Gg>F factor 8 protein

This g>gg>ene encodes a preproprotein that is proteolytically processed to form multiple protein products. The major encoded protein product, lactadherin, is a membrane g>gg>lycoprotein that promotes phag>gg>ocytosis of apoptotic cells. This protein has also been implicated in wound healing>gg>, autoimmune disease, and cancer. Lactadherin can be further processed to form a smaller cleavag>gg>e product, medin, which comprises the major protein component of aortic medial amyloid (AMA). Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2015]

LINC01179 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1179

SMIM11P1 Gene

small integ>gg>ral membrane protein 11 pseudog>gg>ene 1

RPL22P14 Gene

ribosomal protein L22 pseudog>gg>ene 14

RPL13AP26 Gene

ribosomal protein L13a pseudog>gg>ene 26

RPL13AP24 Gene

ribosomal protein L13a pseudog>gg>ene 24

RPL13AP22 Gene

ribosomal protein L13a pseudog>gg>ene 22

RPL13AP23 Gene

ribosomal protein L13a pseudog>gg>ene 23

RPL13AP20 Gene

ribosomal protein L13a pseudog>gg>ene 20

LINC00441 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 441

LINC00440 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 440

LINC00442 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 442

LINC00445 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 445

RPL22P16 Gene

ribosomal protein L22 pseudog>gg>ene 16

LINC00444 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 444

LINC00446 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 446

TMEM132E Gene

transmembrane protein 132E

Involved in posterior lateral line neuromast hair cell development. Predicted to be located in cell body. Implicated in autosomal recessive nonsyndromic deafness 99. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM132D Gene

transmembrane protein 132D

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM132A Gene

transmembrane protein 132A

This g>gg>ene encodes a protein that is hig>gg>hly similar to the rat g>Gg>rp78-binding>gg> protein (g>Gg>BP). Alternatively spliced transcript variants encoding>gg> different isoforms have been described. [provided by RefSeq, Jul 2008]

TMEM132B Gene

transmembrane protein 132B

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC01234 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1234

ZNF736P11Y Gene

zinc fing>gg>er protein 736 pseudog>gg>ene 11, Y-linked

RPL18AP2 Gene

ribosomal protein L18a pseudog>gg>ene 2

RPL18AP1 Gene

ribosomal protein L18a pseudog>gg>ene 1

RPL18AP6 Gene

ribosomal protein L18a pseudog>gg>ene 6

RPL18AP7 Gene

ribosomal protein L18a pseudog>gg>ene 7

RPL18AP4 Gene

ribosomal protein L18a pseudog>gg>ene 4

RPL18AP5 Gene

ribosomal protein L18a pseudog>gg>ene 5

RPL18AP8 Gene

ribosomal protein L18a pseudog>gg>ene 8

RPL18AP9 Gene

ribosomal protein L18a pseudog>gg>ene

LINC01239 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1239

YWHAZP8 Gene

tyrosine 3-monooxyg>gg>enase/tryptophan 5-monooxyg>gg>enase activation protein, zeta pseudog>gg>ene 8

YWHAZP9 Gene

tyrosine 3-monooxyg>gg>enase/tryptophan 5-monooxyg>gg>enase activation protein, zeta pseudog>gg>ene 9

YWHAZP2 Gene

tyrosine 3-monooxyg>gg>enase/tryptophan 5-monooxyg>gg>enase activation protein, zeta pseudog>gg>ene 2

YWHAZP3 Gene

tyrosine 3-monooxyg>gg>enase/tryptophan 5-monooxyg>gg>enase activation protein, zeta pseudog>gg>ene 3

YWHAZP1 Gene

tyrosine 3-monooxyg>gg>enase/tryptophan 5-monooxyg>gg>enase activation protein, zeta pseudog>gg>ene 1

YWHAZP6 Gene

tyrosine 3-monooxyg>gg>enase/tryptophan 5-monooxyg>gg>enase activation protein, zeta pseudog>gg>ene 6

YWHAZP5 Gene

tyrosine 3-monooxyg>gg>enase/tryptophan 5-monooxyg>gg>enase activation protein, zeta pseudog>gg>ene 5

ACRV1 Gene

acrosomal vesicle protein 1

This g>gg>ene encodes a testis-specific, differentiation antig>gg>en, acrosomal vesicle protein 1, that arises within the acrosomal vesicle during>gg> spermatog>gg>enesis, and is associated with the acrosomal membranes and matrix of mature sperm. The acrosomal vesicle protein 1 may be involved in sperm-zona binding>gg> or penetration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010]

RPS27AP14 Gene

ribosomal protein S27a pseudog>gg>ene 14

LOC101060644 Gene

TAR DNA-binding>gg> protein 43 pseudog>gg>ene

RPS27AP16 Gene

ribosomal protein S27a pseudog>gg>ene 16

SKP1P3 Gene

S-phase kinase-associated protein 1 pseudog>gg>ene 3

SKP1P2 Gene

S-phase kinase-associated protein 1 pseudog>gg>ene 2

RNF216P1 Gene

ring>gg> fing>gg>er protein 216 pseudog>gg>ene 1

CTNNBIP1 Gene

catenin, beta interacting>gg> protein 1

The protein encoded by this g>gg>ene binds CTNNB1 and prevents interaction between CTNNB1 and TCF family members. The encoded protein is a neg>gg>ative reg>gg>ulator of the Wnt sig>gg>naling>gg> pathway. Two transcript variants encoding>gg> the same protein have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

LOC101154643 Gene

cyclin-dependent kinase 2 associated protein 2 pseudog>gg>ene

LINC01521 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1521

LINC01520 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1520

LINC01525 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1525

LINC01524 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1524

LINC01527 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1527

LINC01529 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1529

RPL39P39 Gene

ribosomal protein L39 pseudog>gg>ene 39

RPL39P33 Gene

ribosomal protein L39 pseudog>gg>ene 33

RPL39P32 Gene

ribosomal protein L39 pseudog>gg>ene 32

RPL39P31 Gene

ribosomal protein L39 pseudog>gg>ene 31

LOC645900 Gene

lysosomal protein transmembrane 4 beta pseudog>gg>ene

RPL39P37 Gene

ribosomal protein L39 pseudog>gg>ene 37

RPL39P36 Gene

ribosomal protein L39 pseudog>gg>ene 36

RPL39P35 Gene

ribosomal protein L39 pseudog>gg>ene 35

RPL39P34 Gene

ribosomal protein L39 pseudog>gg>ene 34

CNTROB Gene

centrobin, centrosomal BRCA2 interacting>gg> protein

This g>gg>ene encodes a centrosomal protein that interacts with BRCA2, and is required for centriole duplication and cytokinesis. Alternatively spliced transcript variants encoding>gg> different isoforms have been described for this g>gg>ene. [provided by RefSeq, Aug>gg> 2011]

FDCSP Gene

follicular dendritic cell secreted protein

This g>gg>ene encodes a small secreted protein that is expressed in follicular dendritic cells. This protein specifically binds to activated B cells, and functions as a reg>gg>ulator of antibody responses. It is also thoug>gg>ht to contribute to tumor metastases by promoting>gg> cancer cell mig>gg>ration and invasion. [provided by RefSeq, Dec 2011]

FCF1 Gene

FCF1 rRNA-processing>gg> protein

Enables RNA binding>gg> activity. Involved in ribosomal small subunit biog>gg>enesis. Part of small-subunit processome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00691 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 691

LINC00692 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 692

LINC00693 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 693

LINC00698 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 698

LOC102724127 Gene

TP53-targ>gg>et g>gg>ene 3 protein

Located in cytoplasm and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00346 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 346

LINC00347 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 347

LINC00345 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 345

LINC00342 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 342

Biomarker of Hunting>gg>ton's disease. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00343 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 343

LINC00341 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 341

LINC00348 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 348

LOC646804 Gene

alkylated DNA repair protein alkB homolog>gg> 8-like

RPS20P17 Gene

ribosomal protein S20 pseudog>gg>ene 17

LOC100132524 Gene

UBX domain protein 2A pseudog>gg>ene

NPAT Gene

nuclear protein, ataxia-telang>gg>iectasia locus

Enables transcription coactivator activity and transcription corepressor activity. Involved in cell cycle g>Gg>1/S phase transition and positive reg>gg>ulation of transcription by RNA polymerase II. Located in Cajal body; g>Gg>emini of coiled bodies; and cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100130437 Gene

transmembrane protein 126A pseudog>gg>ene

LOC105369444 Gene

oocyte-secreted protein 2-like

RABg>Gg>AP1 Gene

RAB g>Gg>TPase activating>gg> protein 1

Enables g>Gg>TPase activator activity and small g>Gg>TPase binding>gg> activity. Located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PRO2268 Gene

uncharacterized protein PRO2268

MATN1 Gene

matrilin 1, cartilag>gg>e matrix protein

This g>gg>ene encodes a member of von Willebrand factor A domain containing>gg> protein family. This family of proteins are thoug>gg>ht to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. Mutations of this g>gg>ene have been associated with variety of inherited chondrodysplasias. [provided by RefSeq, Jul 2008]

RPL12P8 Gene

ribosomal protein L12 pseudog>gg>ene 8

PCg>Gg>EM1 Gene

PCg>Gg>EM1, prostate-specific transcript (non-protein coding>gg>)

This g>gg>ene produces a long>gg> non-coding>gg> RNA that is overexpressed in prostate cancer and may act a marker for tumor prog>gg>ression. This RNA may act a neg>gg>ative reg>gg>ulator of apoptosis, and may promote activity of androg>gg>en g>receptorg> and Myc. [provided by RefSeq, Dec 2017]

RPL12P4 Gene

ribosomal protein L12 pseudog>gg>ene 4

RPL12P5 Gene

ribosomal protein L12 pseudog>gg>ene 5

RPL12P6 Gene

ribosomal protein L12 pseudog>gg>ene 6

RPL12P7 Gene

ribosomal protein L12 pseudog>gg>ene 7

RPL12P1 Gene

ribosomal protein L12 pseudog>gg>ene 1

RPL12P2 Gene

ribosomal protein L12 pseudog>gg>ene 2

RPL12P3 Gene

ribosomal protein L12 pseudog>gg>ene 3

YAP1P1 Gene

Yes-associated protein 1 pseudog>gg>ene 1

YAP1P3 Gene

Yes-associated protein 1 pseudog>gg>ene 3

YAP1P2 Gene

Yes-associated protein 1 pseudog>gg>ene 2

CENPVP3 Gene

centromere protein V pseudog>gg>ene 3

Predicted to enable carbon-sulfur lyase activity and metal ion binding>gg> activity. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CENPVP2 Gene

centromere protein V pseudog>gg>ene 2

Predicted to enable carbon-sulfur lyase activity and metal ion binding>gg> activity. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CENPVP1 Gene

centromere protein V pseudog>gg>ene 1

Predicted to enable carbon-sulfur lyase activity and metal ion binding>gg> activity. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC101930111 Gene

putative exonuclease g>Gg>OR-like protein

MARCKS Gene

myristoylated alanine-rich protein kinase C substrate

The protein encoded by this g>gg>ene is a substrate for protein kinase C. It is localized to the plasma membrane and is an actin filament crosslinking>gg> protein. Phosphorylation by protein kinase C or binding>gg> to calcium-calmodulin inhibits its association with actin and with the plasma membrane, leading>gg> to its presence in the cytoplasm. The protein is thoug>gg>ht to be involved in cell motility, phag>gg>ocytosis, membrane trafficking>gg> and mitog>gg>enesis. [provided by RefSeq, Jul 2008]

TMEM109 Gene

transmembrane protein 109

Predicted to enable voltag>gg>e-g>gg>ated monoatomic cation channel activity. Acts upstream of or within cellular response to g>gg>amma radiation and neg>gg>ative reg>gg>ulation of prog>gg>rammed cell death. Located in extracellular exosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM108 Gene

transmembrane protein 108

Predicted to be involved in several processes, including>gg> cellular response to brain-derived neurotrophic factor stimulus; nervous system development; and reg>gg>ulation of sig>gg>nal transduction. Predicted to be located in somatodendritic compartment. Predicted to be active in several cellular components, including>gg> endosome; g>gg>lutamaterg>gg>ic synapse; and postsynaptic density membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM102 Gene

transmembrane protein 102

Involved in reg>gg>ulation of mitochondrial outer membrane permeabilization involved in apoptotic sig>gg>naling>gg> pathway; response to cytokine; and sig>gg>nal transduction. Acts upstream of or within positive reg>gg>ulation of T cell mig>gg>ration and positive reg>gg>ulation of cell adhesion. Located in cell surface. Part of protein-containing>gg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM101 Gene

transmembrane protein 101

Involved in positive reg>gg>ulation of canonical NF-kappaB sig>gg>nal transduction. Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM107 Gene

transmembrane protein 107

This g>gg>ene encodes a transmembrane protein and component of the primary cilia transition zone. The encoded protein reg>gg>ulates ciliog>gg>enesis and ciliary protein composition. Human fibroblasts expressing>gg> a mutant allele of this g>gg>ene exhibit reduced numbers of cilia, altered cilia leng>gg>th, and impaired sonic hedg>gg>ehog>gg> sig>gg>naling>gg>. In human patients, different mutations in this g>gg>ene cause different ciliopathies, including>gg> Meckel-g>Gg>ruber syndrome and orofaciodig>gg>ital syndrome. [provided by RefSeq, May 2017]

TMEM105 Gene

transmembrane protein 105

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM104 Gene

transmembrane protein 104

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MRPS18AP1 Gene

mitochondrial ribosomal protein S18A pseudog>gg>ene 1

RECK Gene

reversion-inducing>gg>-cysteine-rich protein with kazal motifs

The protein encoded by this g>gg>ene is a cysteine-rich, extracellular protein with protease inhibitor-like domains whose expression is suppressed strong>gg>ly in many tumors and cells transformed by various kinds of oncog>gg>enes. In normal cells, this membrane-anchored g>gg>lycoprotein may serve as a neg>gg>ative reg>gg>ulator for matrix metalloproteinase-9, a key enzyme involved in tumor invasion and metastasis. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Oct 2015]

ZNF813 Gene

zinc fing>gg>er protein 813

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF812 Gene

zinc fing>gg>er protein 812

TFAP2A Gene

transcription factor AP-2 alpha (activating>gg> enhancer binding>gg> protein 2 alpha)

The protein encoded by this g>gg>ene is a transcription factor that binds the consensus sequence 5'-g>Gg>CCNNNg>Gg>g>Gg>C-3'. The encoded protein functions as either a homodimer or as a heterodimer with similar family members. This protein activates the transcription of some g>gg>enes while inhibiting>gg> the transcription of others. Defects in this g>gg>ene are a cause of branchiooculofacial syndrome (BOFS). Three transcript variants encoding>gg> different isoforms have been found for this g>gg>ene.[provided by RefSeq, Dec 2009]

TFAP2C Gene

transcription factor AP-2 g>gg>amma (activating>gg> enhancer binding>gg> protein 2 g>gg>amma)

The protein encoded by this g>gg>ene is a sequence-specific DNA-binding>gg> transcription factor involved in the activation of several developmental g>gg>enes. The encoded protein can act as either a homodimer or heterodimer with other family members and is induced during>gg> retinoic acid-mediated differentiation. It plays a role in the development of the eyes, face, body wall, limbs, and neural tube. [provided by RefSeq, Jul 2008]

TFAP2B Gene

transcription factor AP-2 beta (activating>gg> enhancer binding>gg> protein 2 beta)

This g>gg>ene encodes a member of the AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thoug>gg>ht to stimulate cell proliferation and suppress terminal differentiation of specific cell types during>gg> embryonic development. Specific AP-2 family members differ in their expression patterns and binding>gg> affinity for different promoters. This protein functions as both a transcriptional activator and repressor. Mutations in this g>gg>ene result in autosomal dominant Char syndrome, sug>gg>g>gg>esting>gg> that this g>gg>ene functions in the differentiation of neural crest cell derivatives. [provided by RefSeq, Jul 2008]

TFAP2E Gene

transcription factor AP-2 epsilon (activating>gg> enhancer binding>gg> protein 2 epsilon)

Enables sequence-specific double-stranded DNA binding>gg> activity. Predicted to be involved in positive reg>gg>ulation of transcription by RNA polymerase II and reg>gg>ulation of cell population proliferation. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TFAP2D Gene

transcription factor AP-2 delta (activating>gg> enhancer binding>gg> protein 2 delta)

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in positive reg>gg>ulation of transcription by RNA polymerase II and reg>gg>ulation of cell population proliferation. Predicted to act upstream of or within inferior colliculus development; neg>gg>ative reg>gg>ulation of neuron apoptotic process; and positive reg>gg>ulation of DNA-templated transcription. Predicted to be located in chromatin. Predicted to be part of transcription reg>gg>ulator complex. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS20P8 Gene

ribosomal protein S20 pseudog>gg>ene 8

MRPL39 Gene

mitochondrial ribosomal protein L39

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein. Two transcript variants encoding>gg> distinct isoforms have been described. A pseudog>gg>ene corresponding>gg> to this g>gg>ene is found on chromosome 5q. [provided by RefSeq, Jul 2008]

SRg>Gg>AP2C Gene

SLIT-ROBO Rho g>Gg>TPase activating>gg> protein 2C

This locus encodes a member of the SLIT-ROBO Rho g>Gg>TPase activating>gg> protein family. This human-specific locus resulted from seg>gg>mental duplication of the SLIT-ROBO Rho g>Gg>TPase activating>gg> protein 2B locus. The encoded protein lacks the g>Gg>TPase activating>gg> protein domain compared to proteins encoded by SLIT-ROBO Rho g>Gg>TPase activating>gg> protein 2, and acts antag>gg>onistically to these proteins in cortical neuron development. [provided by RefSeq, Dec 2012]

CRABP2 Gene

cellular retinoic acid binding>gg> protein 2

This g>gg>ene encodes a member of the retinoic acid (RA, a form of vitamin A) binding>gg> protein family and lipocalin/cytosolic fatty-acid binding>gg> protein family. The protein is a cytosol-to-nuclear shuttling>gg> protein, which facilitates RA binding>gg> to its cog>gg>nate g>receptorg> complex and transfer to the nucleus. It is involved in the retinoid sig>gg>naling>gg> pathway, and is associated with increased circulating>gg> low-density lipoprotein cholesterol. Alternatively spliced transcript variants encoding>gg> the same protein have been found for this g>gg>ene.[provided by RefSeq, Dec 2010]

RPA4 Gene

replication protein A4, 30kDa

This g>gg>ene encodes a sing>gg>le-stranded DNA-binding>gg> protein that is the 30-kDa subunit of the replication protein A complex. Replication protein A is an essential factor for DNA double-strand break repair and cell cycle checkpoint activation. The encoded protein localizes to DNA repair foci and may be involved in the cellular DNA damag>gg>e response. This protein may also play a role in inhibiting>gg> viral replication.[provided by RefSeq, Apr 2010]

RPA1 Gene

replication protein A1, 70kDa

This g>gg>ene encodes the larg>gg>est subunit of the heterotrimeric Replication Protein A (RPA) complex, which binds to sing>gg>le-stranded DNA (ssDNA), forming>gg> a nucleoprotein complex that plays an important role in DNA metabolism, being>gg> involved in DNA replication, repair, recombination, telomere maintenance, and co-ordinating>gg> the cellular response to DNA damag>gg>e throug>gg>h activation of the ataxia telang>gg>iectasia and Rad3-related protein (ATR) kinase. The nucleoprotein complex protects the sing>gg>le-stranded DNA from nucleases, prevents formation of secondary structures that would interfere with repair, and co-ordinates the recruitment and departure of different g>gg>enome maintenance factors. This subunit contains four olig>gg>onucleotide/olig>gg>osaccharide-binding>gg> (OB) domains, thoug>gg>h the majority of ssDNA binding>gg> occurs in two of these domains. The heterotrimeric complex has two different modes of ssDNA binding>gg>, a low-affinity and hig>gg>h-affinity mode, determined by which ssDNA binding>gg> domains are utilized. The different binding>gg> modes differ in the leng>gg>th of DNA bound and in the proteins with which it interacts, thereby playing>gg> a role in reg>gg>ulating>gg> different g>gg>enomic maintenance pathways. [provided by RefSeq, Sep 2017]

RPA3 Gene

replication protein A3, 14kDa

Enables damag>gg>ed DNA binding>gg> activity and sing>gg>le-stranded DNA binding>gg> activity. Involved in DNA metabolic process. Part of DNA replication factor A complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPA2 Gene

replication protein A2, 32kDa

This g>gg>ene encodes a subunit of the heterotrimeric Replication Protein A (RPA) complex, which binds to sing>gg>le-stranded DNA (ssDNA), forming>gg> a nucleoprotein complex that plays an important role in DNA metabolism, being>gg> involved in DNA replication, repair, recombination, telomere maintenance, and co-ordinating>gg> the cellular response to DNA damag>gg>e throug>gg>h activation of the ataxia telang>gg>iectasia and Rad3-related protein (ATR) kinase. The RPA complex protects sing>gg>le-stranded DNA from nucleases, prevents formation of secondary structures that would interfere with repair, and co-ordinates the recruitment and departure of different g>gg>enome maintenance factors. The heterotrimeric complex has two different modes of ssDNA binding>gg>, a low-affinity and hig>gg>h-affinity mode, determined by which olig>gg>onucleotide/olig>gg>osaccharide-binding>gg> (OB) domains of the complex are utilized, and differing>gg> in the leng>gg>th of DNA bound. This subunit contains a sing>gg>le OB domain that participates in hig>gg>h-affinity DNA binding>gg> and also contains a wing>gg>ed helix domain at its carboxy terminus, which interacts with many g>gg>enome maintenance protein. Post-translational modifications of the RPA complex also plays a role in co-ordinating>gg> different damag>gg>e response pathways. [provided by RefSeq, Sep 2017]

REC8 Gene

REC8 meiotic recombination protein

This g>gg>ene encodes a member of the kleisin family of SMC (structural maintenance of chromosome) protein partners. The protein localizes to the axial elements of chromosomes during>gg> meiosis in both oocytes and spermatocytes. In the mouse, the homolog>gg>ous protein is a key component of the meiotic cohesion complex, which reg>gg>ulates sister chromatid cohesion and recombination between homolog>gg>ous chromosomes. Multiple alternatively spliced variants, encoding>gg> the same protein, have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

CHMP2B Gene

charg>gg>ed multivesicular body protein 2B

This g>gg>ene encodes a component of the heteromeric ESCRT-III complex (Endosomal Sorting>gg> Complex Required for Transport III) that functions in the recycling>gg> or deg>gg>radation of cell surface g>receptorg>s. ESCRT-III functions in the concentration and invag>gg>ination of ubiquitinated endosomal carg>gg>os into intralumenal vesicles. The protein encoded by this g>gg>ene is found as a monomer in the cytosol or as an olig>gg>omer in ESCRT-III complexes on endosomal membranes. It is expressed in neurons of all major reg>gg>ions of the brain. Mutations in this g>gg>ene result in one form of familial frontotemporal lobar deg>gg>eneration. [provided by RefSeq, Jul 2008]

CHMP2A Gene

charg>gg>ed multivesicular body protein 2A

CHMP2A belong>gg>s to the chromatin-modifying>gg> protein/charg>gg>ed multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting>gg> complex required for transport III), a complex involved in deg>gg>radation of surface g>receptorg> proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and reg>gg>ulation of cell cycle prog>gg>ression (Tsang>gg> et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]

LOC102724738 Gene

tricarboxylate transport protein, mitochondrial pseudog>gg>ene

RREB1 Gene

ras responsive element binding>gg> protein 1

The protein encoded by this g>gg>ene is a zinc fing>gg>er transcription factor that binds to RAS-responsive elements (RREs) of g>gg>ene promoters. It has been shown that the calcitonin g>gg>ene promoter contains an RRE and that the encoded protein binds there and increases expression of calcitonin, which may be involved in Ras/Raf-mediated cell differentiation. Multiple transcript variants encoding>gg> several different isoforms have been found for this g>gg>ene. [provided by RefSeq, Dec 2009]

LOC100287523 Gene

zinc fing>gg>er protein 2-like

PIANP Gene

PILR alpha associated neural protein

This g>gg>ene encodes a lig>gg>and for the paired immunog>gg>lobin-like type 2 g>receptorg> alpha, and so may be involved in immune reg>gg>ulation. Alternate splicing>gg> results in multiple transcript variants encoding>gg> different proteins. [provided by RefSeq, Sep 2011]

ZNF362 Gene

zinc fing>gg>er protein 362

Predicted to enable DNA-binding>gg> transcription factor activity and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF365 Gene

zinc fing>gg>er protein 365

This g>gg>ene encodes a zinc fing>gg>er protein that may play a role in the repair of DNA damag>gg>e and maintenance of g>gg>enome stability. The N-terminal C2H2 zinc fing>gg>er motif is required to form a protein complex with PARP1 and MRE11, which are known to be involved in the restart of stalled DNA replication forks. A mutation in this g>gg>ene may be associated with breast cancer susceptibility. [provided by RefSeq, Mar 2020]

ZNF367 Gene

zinc fing>gg>er protein 367

Enables DNA-binding>gg> transcription factor activity. Acts upstream of or within reg>gg>ulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF366 Gene

zinc fing>gg>er protein 366

Enables nuclear estrog>gg>en g>receptorg> binding>gg> activity and transcription corepressor activity. Involved in neg>gg>ative reg>gg>ulation of intracellular estrog>gg>en g>receptorg> sig>gg>naling>gg> pathway; neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II; and response to estrog>gg>en. Located in nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PRF1 Gene

perforin 1 (pore forming>gg> protein)

This g>gg>ene encodes a protein with structural similarities to complement component C9 that is important in immunity. This protein forms membrane pores that allow the release of g>gg>ranzymes and subsequent cytolysis of targ>gg>et cells. Whether pore formation occurs in the plasma membrane of targ>gg>et cells or in an endosomal membrane inside targ>gg>et cells is subject to debate. Mutations in this g>gg>ene are associated with a variety of human disease including>gg> diabetes, multiple sclerosis, lymphomas, autoimmune lymphoproliferative syndrome (ALPS), aplastic anemia, and familial hemophag>gg>ocytic lymphohistiocytosis type 2 (FHL2), a rare and lethal autosomal recessive disorder of early childhood. [provided by RefSeq, Aug>gg> 2017]

LOC100419739 Gene

zinc fing>gg>er protein 341 pseudog>gg>ene

TEX41 Gene

testis expressed 41 (non-protein coding>gg>)

RPL31P20 Gene

ribosomal protein L31 pseudog>gg>ene 20

RPL31P21 Gene

ribosomal protein L31 pseudog>gg>ene 21

RPL31P22 Gene

ribosomal protein L31 pseudog>gg>ene 22

RPL31P23 Gene

ribosomal protein L31 pseudog>gg>ene 23

RPL31P24 Gene

ribosomal protein L31 pseudog>gg>ene 24

RPL31P26 Gene

ribosomal protein L31 pseudog>gg>ene 26

RPL31P27 Gene

ribosomal protein L31 pseudog>gg>ene 27

RPL31P28 Gene

ribosomal protein L31 pseudog>gg>ene 28

RPL31P29 Gene

ribosomal protein L31 pseudog>gg>ene 29

LINC01543 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1543

LOC100129661 Gene

HCLS1 associated protein X-1 pseudog>gg>ene

LINC01541 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1541

PRKRIR Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)

Predicted to enable several functions, including>gg> DNA binding>gg> activity; metal ion binding>gg> activity; and protein dimerization activity. Predicted to be involved in neg>gg>ative reg>gg>ulation of cell population proliferation and sig>gg>nal transduction. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

BAIAP3 Gene

BAI1-associated protein 3

This p53-targ>gg>et g>gg>ene encodes a brain-specific ang>gg>iog>gg>enesis inhibitor. The protein is a seven-span transmembrane protein and a member of the secretin g>receptorg> family. It interacts with the cytoplasmic reg>gg>ion of brain-specific ang>gg>iog>gg>enesis inhibitor 1. This protein also contains two C2 domains, which are often found in proteins involved in sig>gg>nal transduction or membrane trafficking>gg>. Its expression pattern and similarity to other proteins sug>gg>g>gg>est that it may be involved in synaptic functions. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Nov 2010]

BAIAP2 Gene

BAI1-associated protein 2

The protein encoded by this g>gg>ene has been identified as a brain-specific ang>gg>iog>gg>enesis inhibitor (BAI1)-binding>gg> protein. This adaptor protein links membrane bound g>Gg>-proteins to cytoplasmic effector proteins. This protein functions as an insulin g>receptorg> tyrosine kinase substrate and sug>gg>g>gg>ests a role for insulin in the central nervous system. It also associates with a downstream effector of Rho small g>Gg> proteins, which is associated with the formation of stress fibers and cytokinesis. This protein is involved in lamellipodia and filopodia formation in motile cells and may affect neuronal g>gg>rowth-cone g>gg>uidance. This protein has also been identified as interacting>gg> with the dentatorubral-pallidoluysian atrophy g>gg>ene, which is associated with an autosomal dominant neurodeg>gg>enerative disease. Alternative splicing>gg> results in multiple transcript variants encoding>gg> distinct isoforms.[provided by RefSeq, Jan 2009]

HSPE1P22 Gene

heat shock 10kDa protein 1 pseudog>gg>ene 22

LINC01544 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1544

POLDIP3 Gene

polymerase (DNA-directed), delta interacting>gg> protein 3

This g>gg>ene encodes an RRM (RNA recog>gg>nition motif)-containing>gg> protein that participates in the reg>gg>ulation of translation by recruiting>gg> ribosomal protein S6 kinase beta-1 to mRNAs. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2013]

POLDIP2 Gene

polymerase (DNA-directed), delta interacting>gg> protein 2

This g>gg>ene encodes a protein that interacts with the DNA polymerase delta p50 subunit, as well as with proliferating>gg> cell nuclear antig>gg>en. The encoded protein maybe play a role in the ability of the replication fork to bypass DNA lesions. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Feb 2014]

NPIPB15 Gene

nuclear pore complex interacting>gg> protein family, member B15

Predicted to be located in extracellular reg>gg>ion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

YTHDF2 Gene

YTH N(6)-methyladenosine RNA binding>gg> protein 2

This g>gg>ene encodes a member of the YTH (YT521-B homolog>gg>y) superfamily containing>gg> YTH domain. The YTH domain is typical for the eukaryotes and is particularly abundant in plants. The YTH domain is usually located in the middle of the protein sequence and may function in binding>gg> to RNA. In addition to a YTH domain, this protein has a proline rich reg>gg>ion which may be involved in sig>gg>nal transduction. An Alu-rich domain has been identified in one of the introns of this g>gg>ene, which is thoug>gg>ht to be associated with human long>gg>evity. In addition, reciprocal translocations between this g>gg>ene and the Runx1 (AML1) g>gg>ene on chromosome 21 has been observed in patients with acute myeloid leukemia. This g>gg>ene was initially mapped to chromosome 14, which was later turned out to be a pseudog>gg>ene. Alternatively spliced transcript variants encoding>gg> different isoforms have been identified in this g>gg>ene. [provided by RefSeq, Oct 2012]

LINC00102 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 102

PP13 Gene

veg>gg>etative cell wall protein g>gg>p1

ARL6IP1P1 Gene

ADP-ribosylation factor-like 6 interacting>gg> protein 1 pseudog>gg>ene 1

ARL6IP1P2 Gene

ADP-ribosylation factor-like 6 interacting>gg> protein 1 pseudog>gg>ene 2

ARL6IP1P3 Gene

ADP-ribosylation factor-like 6 interacting>gg> protein 1 pseudog>gg>ene 3

LINC00290 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 290

LOC100113397 Gene

vezatin, adherens junctions transmembrane protein pseudog>gg>ene

LOC102723776 Gene

protein FAM182A-like

SAP130 Gene

Sin3A-associated protein, 130kDa

SAP130 is a subunit of the histone deacetylase (see HDAC1; MIM 601241)-dependent SIN3A (MIM 607776) corepressor complex (Fleischer et al., 2003 [PubMed 12724404]).[supplied by OMIM, Mar 2008]

CABP7 Gene

calcium binding>gg> protein 7

Predicted to enable calcium ion binding>gg> activity. Located in trans-g>Gg>olg>gg>i network membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CABP5 Gene

calcium binding>gg> protein 5

The product of this g>gg>ene belong>gg>s to a subfamily of calcium binding>gg> proteins, which share similarity to calmodulin. Calcium binding>gg> proteins are an important component of calcium mediated cellular sig>gg>nal transduction. Expression of this g>gg>ene is retina-specific. The mouse homolog>gg> of this protein has been shown to express in the inner nuclear layer of the retina, sug>gg>g>gg>ested its role in neuronal functioning>gg>. The specific function of this g>gg>ene is unknown. [provided by RefSeq, Oct 2009]

TMEM74B Gene

transmembrane protein 74B

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CABP2 Gene

calcium binding>gg> protein 2

This g>gg>ene belong>gg>s to a subfamily of calcium binding>gg> proteins that share similarity to calmodulin. Like calmodulin, these family members can likely stimulate calmodulin-dependent kinase II and the protein phosphatase calcineurin. Calcium binding>gg> proteins are an important component of calcium mediated cellular sig>gg>nal transduction. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jan 2016]

CABP1 Gene

calcium binding>gg> protein 1

Calcium binding>gg> proteins are an important component of calcium mediated cellular sig>gg>nal transduction. This g>gg>ene encodes a protein that belong>gg>s to a subfamily of calcium binding>gg> proteins which share similarity to calmodulin. The protein encoded by this g>gg>ene reg>gg>ulates the g>gg>ating>gg> of voltag>gg>e-g>gg>ated calcium ion channels. This protein inhibits calcium-dependent inactivation and supports calcium-dependent facilitation of ion channels containing>gg> voltag>gg>e-dependent L-type calcium channel subunit alpha-1C. This protein also reg>gg>ulates calcium-dependent activity of inositol 1,4,5-triphosphate g>receptorg>s, P/Q-type voltag>gg>e-g>gg>ated calcium channels, and transient g>receptorg> potential channel TRPC5. This g>gg>ene is predominantly expressed in retina and brain. Alternative splicing>gg> results in multiple transcript variants encoding>gg> disinct isoforms. [provided by RefSeq, Jul 2012]

FBXO34 Gene

F-box protein 34

Members of the F-box protein family, such as FBXO34, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin lig>gg>ases. F-box proteins interact with SKP1 throug>gg>h the F box, and they interact with ubiquitination targ>gg>ets throug>gg>h other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXO36 Gene

F-box protein 36

Members of the F-box protein family, such as FBXO36, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin lig>gg>ases. F-box proteins interact with SKP1 throug>gg>h the F box, and they interact with ubiquitination targ>gg>ets throug>gg>h other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXO30 Gene

F-box protein 30

This g>gg>ene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein lig>gg>ase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing>gg> WD-40 domains, Fbls containing>gg> leucine-rich repeats, and Fbxs containing>gg> either different protein-protein interaction modules or no recog>gg>nizable motifs. The protein encoded by this g>gg>ene belong>gg>s to the Fbxs class and it is upreg>gg>ulated in nasopharyng>gg>eal carcinoma. [provided by RefSeq, Jul 2008]

FBXO31 Gene

F-box protein 31

This g>gg>ene is a member of the F-box family. Members are classified into three classes according>gg> to the substrate interaction domain, FBW for WD40 repeats, FBL for leucing>gg>-rich repeats, and FBXO for other domains. This protein, classified into the last categ>gg>ory because of the lack of a recog>gg>nizable substrate binding>gg> domain, has been proposed to be a component of the SCF ubiquitination complex. It is thoug>gg>ht to bind and recruit substrate for ubiquitination and deg>gg>radation. This protein may have a role in reg>gg>ulating>gg> the cell cycle as well as dendrite g>gg>rowth and neuronal mig>gg>ration. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Sep 2013]

FBXO32 Gene

F-box protein 32

This g>gg>ene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein lig>gg>ase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing>gg> WD-40 domains, Fbls containing>gg> leucine-rich repeats, and Fbxs containing>gg> either different protein-protein interaction modules or no recog>gg>nizable motifs. The protein encoded by this g>gg>ene belong>gg>s to the Fbxs class and contains an F-box domain. This protein is hig>gg>hly expressed during>gg> muscle atrophy, whereas mice deficient in this g>gg>ene were found to be resistant to atrophy. This protein is thus a potential drug>gg> targ>gg>et for the treatment of muscle atrophy. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Jun 2011]

FBXO33 Gene

F-box protein 33

This locus represents an member of the F-box g>gg>ene family. The encoded protein contains an F-box motif and a domain that mig>gg>ht form a structure similar to a leucine-rich repeat found in placental RNAse inhibitor. This locus may be associated with copy number variation of Ug>Gg>T2B17 (g>Gg>eneID 7367), which has been associated with susceptibility to osteoporosis.[provided by RefSeq, Sep 2010]

FBXO38 Gene

F-box protein 38

This g>gg>ene encodes a larg>gg>e protein that contains an F-box domain and may participate in protein ubiquitination. The encoded protein is a transcriptional co-activator of Krueppel-like factor 7 (Klf7). A heterozyg>gg>ous mutation in this g>gg>ene was found in individuals with autosomal dominant distal hereditary motor neuronopathy type IID. There is a pseudog>gg>ene for this g>gg>ene on chromosome 4. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Dec 2013]

FBXO39 Gene

F-box protein 39

Members of the F-box protein family, such as FBXO39, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin lig>gg>ases. F-box proteins interact with SKP1 throug>gg>h the F box, and they interact with ubiquitination targ>gg>ets throug>gg>h other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

WBP11P1 Gene

WW domain binding>gg> protein 11 pseudog>gg>ene 1

NAP1L1P3 Gene

nucleosome assembly protein 1-like 1 pseudog>gg>ene 3

NAP1L1P2 Gene

nucleosome assembly protein 1-like 1 pseudog>gg>ene 2

NAP1L1P1 Gene

nucleosome assembly protein 1-like 1 pseudog>gg>ene 1

SFPQP1 Gene

splicing>gg> factor proline/g>gg>lutamine-rich (polypyrimidine tract binding>gg> protein associated) pseudog>gg>ene 1

LOC105370641 Gene

uncharacterized protein C14orf113

APBA1 Gene

amyloid beta (A4) precursor protein-binding>gg>, family A, member 1

The protein encoded by this g>gg>ene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP frag>gg>ments including>gg> the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This g>gg>ene product is believed to be involved in sig>gg>nal transduction processes. It is also reg>gg>arded as a putative vesicular trafficking>gg> protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2008]

APBA3 Gene

amyloid beta (A4) precursor protein-binding>gg>, family A, member 3

The protein encoded by this g>gg>ene is a member of the X11 protein family. It is an adapter protein that interacts with the Alzheimer's disease amyloid precursor protein. This g>gg>ene product is believed to be involved in sig>gg>nal transduction processes. This g>gg>ene is a candidate g>gg>ene for Alzheimer's disease. [provided by RefSeq, Jul 2008]

APBA2 Gene

amyloid beta (A4) precursor protein-binding>gg>, family A, member 2

The protein encoded by this g>gg>ene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP frag>gg>ments including>gg> the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This g>gg>ene product is believed to be involved in sig>gg>nal transduction processes. It is also reg>gg>arded as a putative vesicular trafficking>gg> protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2017]

LINC00266-3 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 266-3

LINC00266-1 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 266-1

LOC100420338 Gene

charg>gg>ed multivesicular body protein 5 pseudog>gg>ene

Lg>Gg>ALS3BP Gene

lectin, g>gg>alactoside-binding>gg>, soluble, 3 binding>gg> protein

The g>gg>alectins are a family of beta-g>gg>alactoside-binding>gg> proteins implicated in modulating>gg> cell-cell and cell-matrix interactions. Lg>Gg>ALS3BP has been found elevated in the serum of patients with cancer and in those infected by the human immunodeficiency virus (HIV). It appears to be implicated in immune response associated with natural killer (NK) and lymphokine-activated killer (LAK) cell cytotoxicity. Using>gg> fluorescence in situ hybridization the full leng>gg>th 90K cDNA has been localized to chromosome 17q25. The native protein binds specifically to a human macrophag>gg>e-associated lectin known as Mac-2 and also binds g>gg>alectin 1. [provided by RefSeq, Jul 2008]

RBMY2TP Gene

RNA binding>gg> motif protein, Y-linked, family 2, member T pseudog>gg>ene

NCRNA00250 Gene

non-protein coding>gg> RNA 250

BRI3BPP1 Gene

BRI3 binding>gg> protein pseudog>gg>ene 1

LINC00632 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 632

RNF19B Gene

ring>gg> fing>gg>er protein 19B

This g>gg>ene encodes a multi-pass membrane protein containing>gg> two RINg>Gg>-type and one IBR-type zinc fing>gg>er motifs. The encoded protin is an E3 ubiquitin-protein lig>gg>ase that plays a role in the cytotoxic effects of natural killer (NK) cells. Alternative splicing>gg> results in multiple transcript variants. There are pseudog>gg>enes for this g>gg>ene on chromosomes X and Y in a possible pseudoautosomal reg>gg>ion. [provided by RefSeq, Jul 2014]

LINC00634 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 634

Involved in neuron maturation. Located in cytoplasm and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MRPL43 Gene

mitochondrial ribosomal protein L43

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein. This g>gg>ene and the g>gg>ene for a semaphorin class 4 protein (SEMA4g>Gg>) overlap at map location 10q24.31 and are transcribed in opposite directions. Sequence analysis identified multiple transcript variants encoding>gg> at least four different protein isoforms. [provided by RefSeq, Jul 2008]

MRPL42 Gene

mitochondrial ribosomal protein L42

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a protein identified as belong>gg>ing>gg> to both the 28S and the 39S subunits. Alternative splicing>gg> results in multiple transcript variants. Pseudog>gg>enes corresponding>gg> to this g>gg>ene are found on chromosomes 4q, 6p, 6q, 7p, and 15q. [provided by RefSeq, May 2011]

MRPL40 Gene

mitochondrial ribosomal protein L40

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein. Deletions in this g>gg>ene may contribute to the etiolog>gg>y of velo-cardio-facial syndrome and Dig>Gg>eorg>gg>e syndrome. [provided by RefSeq, Jul 2008]

MRPL47 Gene

mitochondrial ribosomal protein L47

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein. This g>gg>ene is immediately adjacent to the g>gg>ene for BAF complex 53 kDa subunit protein a (BAF53a), in a tail-to-tail orientation. Two transcript variants encoding>gg> different protein isoforms have been identified. [provided by RefSeq, Jul 2008]

MRPL46 Gene

mitochondrial ribosomal protein L46

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]

MRPL44 Gene

mitochondrial ribosomal protein L44

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]

FBXO36P1 Gene

F-box protein 36 pseudog>gg>ene 1

MRPL49 Gene

mitochondrial ribosomal protein L49

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. Pseudog>gg>enes corresponding>gg> to this g>gg>ene are found on chromosomes 5q and 8p. [provided by RefSeq, May 2011]

MRPL48 Gene

mitochondrial ribosomal protein L48

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein. A pseudog>gg>ene corresponding>gg> to this g>gg>ene is found on chromosome 6p. Several transcript variants, some protein-coding>gg> and some non-protein coding>gg>, have been found for this g>gg>ene. [provided by RefSeq, Jan 2016]

LOC101059974 Gene

p53 and DNA damag>gg>e-reg>gg>ulated protein 1 pseudog>gg>ene

LOC101059977 Gene

predicted g>Gg>PI-anchored protein 58

CCSAP Gene

centriole, cilia and spindle-associated protein

Enables microtubule binding>gg> activity. Involved in mitotic spindle microtubule depolymerization and reg>gg>ulation of mitotic spindle assembly. Located in axon; ciliary transition zone; and cytoskeleton. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LAMP1P1 Gene

lysosomal-associated membrane protein 1 pseudog>gg>ene 1

LOC100422204 Gene

reg>gg>ulatory solute carrier protein, family 1, member 1 pseudog>gg>ene

MCIDAS Gene

multiciliate differentiation and DNA synthesis associated cell cycle protein

This g>gg>ene encodes a member of the g>gg>eminin family of proteins. The encoded nuclear protein is required for the g>gg>eneration of multiciliated cells in respiratory epithelium. Mutations in this g>gg>ene cause a rare mucociliary clearance disorder associated with recurring>gg> respiratory infections in human patients, known as reduced g>gg>eneration of multiple motile cilia (Rg>Gg>MC). [provided by RefSeq, Sep 2016]

TPT1P14 Gene

tumor protein, translationally-controlled 1 pseudog>gg>ene 14

TPT1P13 Gene

tumor protein, translationally-controlled 1 pseudog>gg>ene 13

WDHD1 Gene

WD repeat and HMg>Gg>-box DNA binding>gg> protein 1

The protein encoded by this g>gg>ene contains multiple N-terminal WD40 domains and a C-terminal hig>gg>h mobility g>gg>roup (HMg>Gg>) box. WD40 domains are found in a variety of eukaryotic proteins and may function as adaptor/reg>gg>ulatory modules in sig>gg>nal transduction, pre-mRNA processing>gg> and cytoskeleton assembly. HMg>Gg> boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. Alternative splicing>gg> results in two transcript variants encoding>gg> different isoforms. [provided by RefSeq, Jul 2008]

RFPL4AP1 Gene

ret fing>gg>er protein-like 4A pseudog>gg>ene 1

NDFIP2 Gene

Nedd4 family interacting>gg> protein 2

Enables WW domain binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of transport and reg>gg>ulation of macromolecule metabolic process. Located in several cellular components, including>gg> g>Gg>olg>gg>i apparatus; mitochondrion; and perinuclear reg>gg>ion of cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RFPL4AP5 Gene

ret fing>gg>er protein-like 4A pseudog>gg>ene 5

LOC105379522 Gene

zinc fing>gg>er protein 717-like

RNFT2 Gene

ring>gg> fing>gg>er protein, transmembrane 2

Predicted to enable ubiquitin protein lig>gg>ase activity. Predicted to be involved in positive reg>gg>ulation of ERAD pathway. Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

IMPACT Gene

impact RWD domain protein

Predicted to enable protein sequestering>gg> activity. Predicted to be involved in several processes, including>gg> g>Gg>CN2-mediated sig>gg>naling>gg>; cellular response to amino acid starvation; and reg>gg>ulation of g>gg>ene expression. Predicted to act upstream of or within neg>gg>ative reg>gg>ulation of protein phosphorylation. Predicted to be active in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS20P30 Gene

ribosomal protein S20 pseudog>gg>ene 30

CAV1 Gene

caveolin 1, caveolae protein, 22kDa

The scaffolding>gg> protein encoded by this g>gg>ene is the main component of the caveolae plasma membranes found in most cell types. The protein links integ>gg>rin subunits to the tyrosine kinase FYN, an initiating>gg> step in coupling>gg> integ>gg>rins to the Ras-ERK pathway and promoting>gg> cell cycle prog>gg>ression. The g>gg>ene is a tumor suppressor g>gg>ene candidate and a neg>gg>ative reg>gg>ulator of the Ras-p42/44 mitog>gg>en-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing>gg> proteins that form a stable hetero-olig>gg>omeric complex. Mutations in this g>gg>ene have been associated with Berardinelli-Seip cong>gg>enital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.[provided by RefSeq, Mar 2010]

WASF4P Gene

WAS protein family, member 4, pseudog>gg>ene

This g>gg>ene is a pseudog>gg>ene belong>gg>ing>gg> to the family of g>gg>enes encoding>gg> Wiskott-Aldrich syndrome (WAS) proteins, which are involved in the transmission of sig>gg>nals to the actin cytoskeleton. Wiskott-Aldrich syndrome is a disease of the immune system. This pseudog>gg>ene, which is apparently not transcribed, most closely resembles the g>gg>ene encoding>gg> the WAS protein family member 2, which is located on chromosome 1. [provided by RefSeq, Jul 2008]

PITPNA Gene

phosphatidylinositol transfer protein, alpha

This g>gg>ene encodes a member of a family of lipid-binding>gg> proteins that transfer molecules of phosphatidylinositol or phosphatidylcholine between membrane surfaces. The protein is implicated in phospholipase C sig>gg>naling>gg> and in the production of phosphatidylinositol 3,4,5-trisphosphate (PIP3) by phosphoinositide-3-kinase.[provided by RefSeq, Sep 2009]

PITPNB Gene

phosphatidylinositol transfer protein, beta

This g>gg>ene encodes a cytoplasmic protein that catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes. This transfer activity is required for COPI complex-mediated retrog>gg>rade transport from the g>Gg>olg>gg>i apparatus to the endoplasmic reticulum. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants. [provided by RefSeq, Sep 2013]

CCNB1IP1P3 Gene

cyclin B1 interacting>gg> protein 1 pseudog>gg>ene 3

CCNB1IP1P2 Gene

cyclin B1 interacting>gg> protein 1 pseudog>gg>ene 2

CCNB1IP1P1 Gene

cyclin B1 interacting>gg> protein 1 pseudog>gg>ene 1

MRPS28 Gene

mitochondrial ribosomal protein S28

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 28S subunit protein that has been called mitochondrial ribosomal protein S35 in the literature. [provided by RefSeq, Jul 2008]

MRPS26 Gene

mitochondrial ribosomal protein S26

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 28S subunit protein. This g>gg>ene lies adjacent to and downstream of the g>gg>onadotropin-releasing>gg> hormone precursor g>gg>ene. [provided by RefSeq, Jul 2008]

MRPS27 Gene

mitochondrial ribosomal protein S27

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 28S subunit protein that may be a functional partner of the death associated protein 3 (DAP3). Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Nov 2013]

MRPS24 Gene

mitochondrial ribosomal protein S24

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 28S subunit protein. A pseudog>gg>ene corresponding>gg> to this g>gg>ene is found on chromosome 11. Read-throug>gg>h transcription exists between this g>gg>ene and the upstream upreg>gg>ulator of cell proliferation (URg>Gg>CP) g>gg>ene. [provided by RefSeq, Mar 2011]

MRPS25 Gene

mitochondrial ribosomal protein S25

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 28S subunit protein. A pseudog>gg>ene corresponding>gg> to this g>gg>ene is found on chromosome 4. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Feb 2016]

MRPS22 Gene

mitochondrial ribosomal protein S22

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 28S subunit protein that does not seem to have a counterpart in prokaryotic and fung>gg>al-mitochondrial ribosomes. This g>gg>ene lies telomeric of and is transcribed in the opposite direction from the forkhead box L2 g>gg>ene. A pseudog>gg>ene corresponding>gg> to this g>gg>ene is found on chromosome Xq. [provided by RefSeq, Jul 2008]

MRPS23 Gene

mitochondrial ribosomal protein S23

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 28S subunit protein. A pseudog>gg>ene corresponding>gg> to this g>gg>ene is found on chromosome 7p. [provided by RefSeq, Jul 2008]

MRPS21 Gene

mitochondrial ribosomal protein S21

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 28S subunit protein that belong>gg>s to the ribosomal protein S21P family. Pseudog>gg>enes corresponding>gg> to this g>gg>ene are found on chromosomes 1p, 1q, 9p, 10p, 10q, 16q, and 17q. Available sequence data analyses identified splice variants that differ in the 5' UTR; both transcripts encode the same protein. [provided by RefSeq, Jul 2008]

PMP2 Gene

peripheral myelin protein 2

The protein encoded by this g>gg>ene localizes to myelin sheaths of the peripheral nervous system. The encoded protein can bind both the membrane layers of the sheaths and monomeric lipids, and is thoug>gg>ht to provide stability to the sheath. A defect in this g>gg>ene was shown to be a cause of dominant demyelinating>gg> CMT neuropathy. [provided by RefSeq, Jan 2017]

LOC101060212 Gene

puromycin-sensitive aminopeptidase-like protein

RPL41P4 Gene

ribosomal protein L41 pseudog>gg>ene 4

RPL41P5 Gene

ribosomal protein L41 pseudog>gg>ene 5

RPL41P6 Gene

ribosomal protein L41 pseudog>gg>ene 6

There are two copies of this pseudog>gg>ene on chromosome Y within the P1 palindrome. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

RPL41P7 Gene

ribosomal protein L41 pseudog>gg>ene 7

There are two copies of this pseudog>gg>ene on chromosome Y within the P1 palindrome. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

RPL41P1 Gene

ribosomal protein L41 pseudog>gg>ene 1

RPL41P2 Gene

ribosomal protein L41 pseudog>gg>ene 2

RPL41P3 Gene

ribosomal protein L41 pseudog>gg>ene 3

LOC100421279 Gene

phosphodiesterase 4D interacting>gg> protein pseudog>gg>ene

PPP1R8P1 Gene

protein phosphatase 1, reg>gg>ulatory subunit 8 pseudog>gg>ene 1

APPL1 Gene

adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing>gg> 1

The protein encoded by this g>gg>ene has been shown to be involved in the reg>gg>ulation of cell proliferation, and in the crosstalk between the adiponectin sig>gg>nalling>gg> and insulin sig>gg>nalling>gg> pathways. The encoded protein binds many other proteins, including>gg> RAB5A, DCC, AKT2, PIK3CA, adiponectin g>receptorg>s, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by Eg>Gg>F and translocated to the nucleus. [provided by RefSeq, Jul 2008]

APPL2 Gene

adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing>gg> 2

The protein encoded by this g>gg>ene is one of two effectors of the small g>Gg>TPase RAB5A/Rab5, which are involved in a sig>gg>nal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a central pleckstrin homolog>gg>y (PH) domain, and a C-terminal phosphotyrosine binding>gg> (PTB) domain, and they bind the Rab5 throug>gg>h the BAR domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the Eg>Gg>F stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling>gg> and deacetylase /methyl-Cpg>Gg>-binding>gg> protein 1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving>gg> this g>gg>ene and the PSAP2 g>gg>ene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome. [provided by RefSeq, Oct 2011]

KRTAP21-3 Gene

keratin associated protein 21-3

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP21-2 Gene

keratin associated protein 21-2

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SVIP Gene

small VCP/p97-interacting>gg> protein

Endoplasmic reticulum-associated deg>gg>radation (ERAD) is the pathway by which misfolded proteins in the endoplasmic reticulum are targ>gg>eted to the proteasome for deg>gg>radation. Multiple specialized proteins interact with one another during>gg> ERAD to complete this process. The protein encoded by this g>gg>ene is an inhibitor of ERAD, functioning>gg> to disrupt the interaction of these protein components. This downreg>gg>ulation of ERAD may be needed to protect the cell from overactive protein deg>gg>radation. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Feb 2016]

LOC100419503 Gene

ribosomal protein S2 pseudog>gg>ene

LETM1P2 Gene

leucine zipper-EF-hand containing>gg> transmembrane protein 1, pseudog>gg>ene 2

LETM1P3 Gene

leucine zipper-EF-hand containing>gg> transmembrane protein 1, pseudog>gg>ene 3

NFATC2IP Gene

nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting>gg> protein

Predicted to be involved in positive reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC01176 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1176

LINC01177 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1177

LOC391747 Gene

TAF11 RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor, 28kDa pseudog>gg>ene

Predicted to enable protein heterodimerization activity. Predicted to contribute to RNA polymerase II g>gg>eneral transcription initiation factor activity. Predicted to be involved in RNA polymerase II preinitiation complex assembly. Predicted to be located in nucleus. Predicted to be part of transcription factor TFIID complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP6-3 Gene

keratin associated protein 6-3

Predicted to be involved in keratinization. Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM22 Gene

small integ>gg>ral membrane protein 22

Involved in several processes, including>gg> lipid droplet formation; positive reg>gg>ulation of cell mig>gg>ration; and reg>gg>ulation of actin cytoskeleton org>gg>anization. Predicted to be located in late endosome and membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL28P5 Gene

ribosomal protein L28 pseudog>gg>ene 5

RPL28P4 Gene

ribosomal protein L28 pseudog>gg>ene 4

RPL28P3 Gene

ribosomal protein L28 pseudog>gg>ene 3

RPL28P2 Gene

ribosomal protein L28 pseudog>gg>ene 2

RPL28P1 Gene

ribosomal protein L28 pseudog>gg>ene 1

STK11IP Gene

serine/threonine kinase 11 interacting>gg> protein

Enables protein kinase binding>gg> activity. Involved in protein localization. Located in cytoplasm and intracellular membrane-bounded org>gg>anelle. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105379201 Gene

putative uncharacterized protein ENSP00000344348

FBXL3 Gene

F-box and leucine-rich repeat protein 3

This g>gg>ene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein lig>gg>ase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing>gg> WD-40 domains, Fbls containing>gg> leucine-rich repeats, and Fbxs containing>gg> either different protein-protein interaction modules or no recog>gg>nizable motifs. The protein encoded by this g>gg>ene belong>gg>s to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats and is localized in the nucleus. [provided by RefSeq, Jul 2008]

FBXL5 Gene

F-box and leucine-rich repeat protein 5

This g>gg>ene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein lig>gg>ase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing>gg> WD-40 domains, Fbls containing>gg> leucine-rich repeats, and Fbxs containing>gg> either different protein-protein interaction modules or no recog>gg>nizable motifs. The protein encoded by this g>gg>ene belong>gg>s to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug>gg> 2010]

KIAA0894 Gene

KIAA0894 protein

RPL36AP18 Gene

ribosomal protein L36a pseudog>gg>ene 18

RPL36AP19 Gene

ribosomal protein L36a pseudog>gg>ene 19

RPL36AP14 Gene

ribosomal protein L36a pseudog>gg>ene 14

RPL36AP15 Gene

ribosomal protein L36a pseudog>gg>ene 15

RPL36AP16 Gene

ribosomal protein L36a pseudog>gg>ene 16

RPL36AP10 Gene

ribosomal protein L36a pseudog>gg>ene 10

RPL36AP11 Gene

ribosomal protein L36a pseudog>gg>ene 11

RPL36AP12 Gene

ribosomal protein L36a pseudog>gg>ene 12

RPL36AP13 Gene

ribosomal protein L36a pseudog>gg>ene 13

TBPL2 Gene

TATA box binding>gg> protein like 2

Predicted to enable RNA polymerase II g>gg>eneral transcription initiation factor activity. Predicted to be involved in DNA-templated transcription initiation. Located in cytoplasm and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC142937 Gene

uncharacterized protein BC008131

ERMN Gene

ermin, ERM-like protein

Predicted to enable actin filament binding>gg> activity. Involved in actin filament org>gg>anization; reg>gg>ulation of cell projection org>gg>anization; and reg>gg>ulation of cell shape. Located in cell cortex; internode reg>gg>ion of axon; and paranode reg>gg>ion of axon. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MPZL2 Gene

myelin protein zero-like 2

Thymus development depends on a complex series of interactions between thymocytes and the stromal component of the org>gg>an. Epithelial V-like antig>gg>en (EVA) is expressed in thymus epithelium and strong>gg>ly downreg>gg>ulated by thymocyte developmental prog>gg>ression. This g>gg>ene is expressed in the thymus and in several epithelial structures early in embryog>gg>enesis. It is hig>gg>hly homolog>gg>ous to the myelin protein zero and, in thymus-derived epithelial cell lines, is poorly soluble in nonionic deterg>gg>ents, strong>gg>ly sug>gg>g>gg>esting>gg> an association to the cytoskeleton. Its capacity to mediate cell adhesion throug>gg>h a homophilic interaction and its selective reg>gg>ulation by T cell maturation mig>gg>ht imply the participation of EVA in the earliest phases of thymus org>gg>anog>gg>enesis. The protein bears a characteristic V-type domain and two potential N-g>gg>lycosylation sites in the extracellular domain; a putative serine phosphorylation site for casein kinase 2 is also present in the cytoplasmic tail. Two transcript variants encoding>gg> the same protein have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

MPZL3 Gene

myelin protein zero-like 3

Predicted to be involved in cell adhesion. Predicted to act upstream of or within extracellular matrix org>gg>anization and hair cycle. Predicted to be located in membrane. Predicted to be active in plasma membrane. Implicated in lung>gg> cancer. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MPZL1 Gene

myelin protein zero-like 1

Predicted to enable structural molecule activity. Predicted to be involved in cell surface g>receptorg> protein tyrosine kinase sig>gg>naling>gg> pathway and cell-cell sig>gg>naling>gg>. Located in cell surface and focal adhesion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC01069 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1069

LINC01065 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1065

ZFRP1 Gene

zinc fing>gg>er RNA binding>gg> protein pseudog>gg>ene 1

LOC105371414 Gene

keratin-associated protein 5-2-like

LOC100421870 Gene

WW domain containing>gg> E3 ubiquitin protein lig>gg>ase 2 pseudog>gg>ene

CASS4 Gene

Cas scaffolding>gg> protein family member 4

Enables protein tyrosine kinase binding>gg> activity. Involved in several processes, including>gg> positive reg>gg>ulation of phosphatidylinositol 3-kinase/protein kinase B sig>gg>nal transduction; positive reg>gg>ulation of protein tyrosine kinase activity; and positive reg>gg>ulation of substrate adhesion-dependent cell spreading>gg>. Located in cytoplasm and focal adhesion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

BANK1 Gene

B-cell scaffold protein with ankyrin repeats 1

The protein encoded by this g>gg>ene is a B-cell-specific scaffold protein that functions in B-cell g>receptorg>-induced calcium mobilization from intracellular stores. This protein can also promote Lyn-mediated tyrosine phosphorylation of inositol 1,4,5-trisphosphate g>receptorg>s. Polymorphisms in this g>gg>ene are associated with susceptibility to systemic lupus erythematosus. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Oct 2009]

PWRN1 Gene

Prader-Willi reg>gg>ion non-protein coding>gg> RNA 1

This g>gg>ene is located in the Prader-Willi syndrome (PWS) reg>gg>ion of chromosome 15, which is known to underg>gg>o imprinting>gg>. The transcript is believed to be non-coding>gg>. It is bi-allelically expressed in testis and kidney, but mono-allelically expressed from the paternal allele in brain. This g>gg>ene is poly-adenylated and is known to underg>gg>o alternative splicing>gg>. Transcript variants may represent part of a complex imprinting>gg> center-SNURF-SNRPN transcription unit. The contribution of this g>gg>ene to the PWS phenotype is unknown, but it has been sug>gg>g>gg>ested that it may play a role in establishing>gg> paternal imprinting>gg> in the PWS reg>gg>ion, perhaps by maintaining>gg> the paternal allele in an open chromatin config>gg>uration. [provided by RefSeq, Sep 2009]

PWRN2 Gene

Prader-Willi reg>gg>ion non-protein coding>gg> RNA 2

PWRN3 Gene

Prader-Willi reg>gg>ion non-protein coding>gg> RNA 3

HHIP Gene

hedg>gg>ehog>gg> interacting>gg> protein

This g>gg>ene encodes a member of the hedg>gg>ehog>gg>-interacting>gg> protein (HHIP) family. The hedg>gg>ehog>gg> (HH) proteins are evolutionarily conserved protein, which are important morphog>gg>ens for a wide rang>gg>e of developmental processes, including>gg> anteroposterior patterns of limbs and reg>gg>ulation of left-rig>gg>ht asymmetry in embryonic development. Multiple cell-surface g>receptorg>s are responsible for transducing>gg> and/or reg>gg>ulating>gg> HH sig>gg>nals. The HHIP encoded by this g>gg>ene is a hig>gg>hly conserved, vertebrate-specific inhibitor of HH sig>gg>naling>gg>. It interacts with all three HH family members, SHH, IHH and DHH. Two sing>gg>le nucleotide polymorphisms (SNPs) near this g>gg>ene are sig>gg>nificantly associated with risk of chronic obstructive pulmonary disease (COPD). A sing>gg>le nucleotide polymorphism in this g>gg>ene is also strong>gg>ly associated with human heig>gg>ht.[provided by RefSeq, Feb 2011]

LOC100420108 Gene

RNA binding>gg> motif protein 7 pseudog>gg>ene

LOC100420109 Gene

WW domain binding>gg> protein 1 pseudog>gg>ene

LOC105377813 Gene

endog>gg>enous retrovirus g>gg>roup K member 11 Pol protein

LOC105372867 Gene

putative uncharacterized protein LOC388882

ZFP69B Gene

ZFP69 zinc fing>gg>er protein B

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Involved in g>Gg>olg>gg>i org>gg>anization. Located in nucleolus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM259 Gene

transmembrane protein 259

Predicted to be involved in positive reg>gg>ulation of ERAD pathway and response to endoplasmic reticulum stress. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in endoplasmic reticulum. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TM9SF4 Gene

transmembrane 9 superfamily protein member 4

Involved in several processes, including>gg> positive reg>gg>ulation of protein localization; reg>gg>ulation of intracellular pH; and vacuolar proton-transporting>gg> V-type ATPase complex assembly. Located in g>Gg>olg>gg>i apparatus and early endosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL12P30 Gene

ribosomal protein L12 pseudog>gg>ene 30

RPL29P11 Gene

ribosomal protein L29 pseudog>gg>ene 11

RPL29P12 Gene

ribosomal protein L29 pseudog>gg>ene 12

RPL29P13 Gene

ribosomal protein L29 pseudog>gg>ene 13

RPL29P15 Gene

ribosomal protein L29 pseudog>gg>ene 15

RPL29P16 Gene

ribosomal protein L29 pseudog>gg>ene 16

RPL29P17 Gene

ribosomal protein L29 pseudog>gg>ene 17

RPL29P19 Gene

ribosomal protein L29 pseudog>gg>ene 19

LINC00862 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 862

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105369176 Gene

putative tripartite motif-containing>gg> protein 64B

LOC105369175 Gene

cilia- and flag>gg>ella-associated protein 54-like

LOC101928507 Gene

putative uncharacterized protein FLJ44672

LOC101928508 Gene

zinc fing>gg>er Ran-binding>gg> domain-containing>gg> protein 2 pseudog>gg>ene

LOC105369285 Gene

zinc fing>gg>er protein 813-like

ARIH2 Gene

ariadne RBR E3 ubiquitin protein lig>gg>ase 2

The protein encoded by this g>gg>ene is an E3 ubiquitin-protein lig>gg>ase that polyubiquitinates some proteins, tag>gg>g>gg>ing>gg> them for deg>gg>radation. The encoded protein upreg>gg>ulates p53 in some cancer cells and may inhibit myelopoiesis. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene, althoug>gg>h the full-leng>gg>th nature of some of them have not been determined yet. [provided by RefSeq, Nov 2015]

ARIH1 Gene

ariadne RBR E3 ubiquitin protein lig>gg>ase 1

Enables enzyme binding>gg> activity; ubiquitin-protein transferase activity; and zinc ion binding>gg> activity. Involved in protein ubiquitination. Located in several cellular components, including>gg> Lewy body; cullin-RINg>Gg> ubiquitin lig>gg>ase complex; and nuclear body. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

DIABLO Gene

diablo, IAP-binding>gg> mitochondrial protein

This g>gg>ene encodes an inhibitor of apoptosis protein (IAP)-binding>gg> protein. The encoded mitochondrial protein enters the cytosol when cells underg>gg>o apoptosis, and allows activation of caspases by binding>gg> to inhibitor of apoptosis proteins. Overexpression of the encoded protein sensitizes tumor cells to apoptosis. A mutation in this g>gg>ene is associated with young>gg>-adult onset of nonsyndromic deafness-64. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, May 2013]

FUS Gene

FUS RNA binding>gg> protein

This g>gg>ene encodes a multifunctional protein component of the heterog>gg>eneous nuclear ribonucleoprotein (hnRNP) complex. The hnRNP complex is involved in pre-mRNA splicing>gg> and the export of fully processed mRNA to the cytoplasm. This protein belong>gg>s to the FET family of RNA-binding>gg> proteins which have been implicated in cellular processes that include reg>gg>ulation of g>gg>ene expression, maintenance of g>gg>enomic integ>gg>rity and mRNA/microRNA processing>gg>. Alternative splicing>gg> results in multiple transcript variants. Defects in this g>gg>ene result in amyotrophic lateral sclerosis type 6. [provided by RefSeq, Sep 2009]

FUZ Gene

fuzzy planar cell polarity protein

This g>gg>ene encodes a planar cell polarity protein that is involved in ciliog>gg>enesis and directional cell movement. Knockout studies in mice exhibit neural tube defects and defective cilia, and mutations in this g>gg>ene are associated with neural tube defects in humans. Alternatively spliced transcript variants have been found for this g>gg>ene. [provided by RefSeq, Jul 2012]

RPL24P9 Gene

ribosomal protein L24 pseudog>gg>ene

RPS6P9 Gene

ribosomal protein S6 pseudog>gg>ene 9

RPS24P8 Gene

ribosomal protein S24 pseudog>gg>ene 8

RPS6P8 Gene

ribosomal protein S6 pseudog>gg>ene 8

RPS24P1 Gene

ribosomal protein S24 pseudog>gg>ene 1

RPS24P2 Gene

ribosomal protein S24 pseudog>gg>ene 2

RPS24P3 Gene

ribosomal protein S24 pseudog>gg>ene 3

RPS24P4 Gene

ribosomal protein S24 pseudog>gg>ene 4

RPS24P5 Gene

ribosomal protein S24 pseudog>gg>ene 5

RPS24P6 Gene

ribosomal protein S24 pseudog>gg>ene 6

RPL24P7 Gene

ribosomal protein L24 pseudog>gg>ene 7

LOC102724117 Gene

putative g>gg>olg>gg>in subfamily A member 6-like protein 4

LINC00333 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 333

LINC00331 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 331

RPL7AP34 Gene

ribosomal protein L7a pseudog>gg>ene 34

ARHg>Gg>AP42P3 Gene

Rho g>Gg>TPase activating>gg> protein 42 pseudog>gg>ene 3

ARHg>Gg>AP42P2 Gene

Rho g>Gg>TPase activating>gg> protein 42 pseudog>gg>ene 2

TMEM150A Gene

transmembrane protein 150A

Involved in phosphatidylinositol phosphate biosynthetic process and protein localization to plasma membrane. Located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM150C Gene

transmembrane protein 150C

This g>gg>ene encodes a transmembrane protein component of a mechanosensitve ion channel that is activated by mechanical stimuli in various cell types and confers slowly adapting>gg>, mechanically activated currents in dorsal root g>gg>ang>gg>lion neurons. Mechanically activated ion channels are sensors that are critical for hearing>gg>, touch, pain, and blood pressure reg>gg>ulation. [provided by RefSeq, Jul 2017]

TMEM150B Gene

transmembrane protein 150B

This g>gg>ene encodes a protein that belong>gg>s to the DRAM (damag>gg>e-reg>gg>ulated autophag>gg>y modulator) family of membrane-spanning>gg> proteins. Alternate splicing>gg> results in multiple transcript variants. [provided by RefSeq, Aug>gg> 2013]

OMP Gene

olfactory marker protein

Olfactory marker protein is uniquely associated with the mature olfactory g>receptorg> neurons in many vertebrate species from fish to man. The OMP g>gg>ene structure and protein sequence are hig>gg>hly conserved between mouse, rat and human. Results of the mouse knockout studies show that OMP-null mice are compromised in their ability to respond to odor stimuli, and that OMP represents a novel modulatory component of the odor detection/sig>gg>nal transduction cascade. [provided by RefSeq, Jul 2008]

HIP1 Gene

hunting>gg>tin interacting>gg> protein 1

The product of this g>gg>ene is a membrane-associated protein that functions in clathrin-mediated endocytosis and protein trafficking>gg> within the cell. The encoded protein binds to the hunting>gg>tin protein in the brain; this interaction is lost in Hunting>gg>ton's disease. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2013]

RPS10P31 Gene

ribosomal protein S10 pseudog>gg>ene 31

FAM205BP Gene

transmembrane protein C9orf144B pseudog>gg>ene

LINC01468 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1468

RNPS1P1 Gene

RNA binding>gg> protein S1, serine-rich domain pseudog>gg>ene 1

LOC105376685 Gene

basic proline-rich protein-like

ZNF479 Gene

zinc fing>gg>er protein 479

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF471 Gene

zinc fing>gg>er protein 471

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF470 Gene

zinc fing>gg>er protein 470

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Located in nuclear body. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF473 Gene

zinc fing>gg>er protein 473

This g>gg>ene encodes a member of the Krueppel C2H2-type zinc-fing>gg>er family of proteins. The encoded protein, a component of the U7 snRNP complex, plays a role in histone 3'-end pre-mRNA processing>gg> and may be required for cell cycle prog>gg>ression to S phase. Expression level and methylation status of this g>gg>ene may be correlated with bone mineral density. [provided by RefSeq, Jul 2016]

EIF4EBP2P1 Gene

eukaryotic translation initiation factor 4E binding>gg> protein 2 pseudog>gg>ene 1

ZNF474 Gene

zinc fing>gg>er protein 474

Predicted to enable metal ion binding>gg> activity. Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

EIF4EBP2P3 Gene

eukaryotic translation initiation factor 4E binding>gg> protein 2 pseudog>gg>ene 3

EIF4EBP2P2 Gene

eukaryotic translation initiation factor 4E binding>gg> protein 2 pseudog>gg>ene 2

C1QBPP1 Gene

complement component 1, q subcomponent binding>gg> protein, pseudog>gg>ene 1

C1QBPP2 Gene

complement component 1, q subcomponent binding>gg> protein, pseudog>gg>ene 2

C1QBPP3 Gene

complement component 1, q subcomponent binding>gg> protein, pseudog>gg>ene 3

LOC100418554 Gene

zinc fing>gg>er protein 93 pseudog>gg>ene

LOC100418556 Gene

zinc fing>gg>er protein 70 pseudog>gg>ene

LOC100418550 Gene

zinc fing>gg>er protein 93 pseudog>gg>ene

LOC100418551 Gene

zinc fing>gg>er protein 70 pseudog>gg>ene

LOC100418552 Gene

zinc fing>gg>er protein 93 pseudog>gg>ene

LOC100418553 Gene

zinc fing>gg>er protein 70 pseudog>gg>ene

LINC01003 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1003

LOC100288853 Gene

poly(A) binding>gg> protein, nuclear 1 pseudog>gg>ene

TRRAP Gene

transformation/transcription domain-associated protein

This g>gg>ene encodes a larg>gg>e multidomain protein of the phosphoinositide 3-kinase-related kinases (PIKK) family. The encoded protein is a common component of many histone acetyltransferase (HAT) complexes and plays a role in transcription and DNA repair by recruiting>gg> HAT complexes to chromatin. Dereg>gg>ulation of this g>gg>ene may play a role in several types of cancer including>gg> g>gg>lioblastoma multiforme. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Sep 2011]

LINC00618 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 618

LINC00619 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 619

LINC00610 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 610

LINC00612 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 612

LINC00613 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 613

LINC00614 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 614

LINC00615 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 615

LINC00616 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 616

SPRN Gene

shadow of prion protein homolog>gg> (zebrafish)

Predicted to enable nucleic acid binding>gg> activity. Predicted to be involved in protein import into nucleus. Predicted to be located in extracellular reg>gg>ion and plasma membrane. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PCBP2P2 Gene

poly(rC) binding>gg> protein 2 pseudog>gg>ene 2

PCBP2P3 Gene

poly(rC) binding>gg> protein 2 pseudog>gg>ene 3

PCBP2P1 Gene

poly(rC) binding>gg> protein 2 pseudog>gg>ene 1

VMAC Gene

vimentin-type intermediate filament associated coiled-coil protein

Predicted to be located in cytoplasm. Predicted to be active in type III intermediate filament. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC01435 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1435

TYW1P1 Gene

tRNA-yW synthesizing>gg> protein 1 homolog>gg> pseudog>gg>ene 1

RPL23AP57 Gene

ribosomal protein L23a pseudog>gg>ene 57

PPP2R1B Gene

protein phosphatase 2, reg>gg>ulatory subunit A, beta

This g>gg>ene encodes a constant reg>gg>ulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the neg>gg>ative control of cell g>gg>rowth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant reg>gg>ulatory subunit, that associates with a variety of reg>gg>ulatory subunits. The constant reg>gg>ulatory subunit A serves as a scaffolding>gg> molecule to coordinate the assembly of the catalytic subunit and a variable reg>gg>ulatory B subunit. This g>gg>ene encodes a beta isoform of the constant reg>gg>ulatory subunit A. Mutations in this g>gg>ene have been associated with some lung>gg> and colon cancers. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]

LOC100128356 Gene

protein transactivated by hepatitis B virus E antig>gg>en

LOC100533899 Gene

ribosomal protein L3 pseudog>gg>ene

HSPB7 Gene

heat shock 27kDa protein family, member 7 (cardiovascular)

This g>gg>ene encodes a small heat shock family B member that can heterodimerize with similar heat shock proteins. Defects in this g>gg>ene are associated with advanced heart failure. In addition, the encoded protein may be a tumor suppressor in the p53 pathway, with defects in this g>gg>ene being>gg> associated with renal cell carcinoma. [provided by RefSeq, Mar 2017]

HSPB2 Gene

heat shock 27kDa protein 2

The protein encoded by this g>gg>ene belong>gg>s to the superfamily of small heat-shock proteins containing>gg> a conservative alpha-crystallin domain at the C-terminal part of the molecule. The protein is expressed preferentially in the heart and skeletal muscle. This protein reg>gg>ulates Myotonic Dystrophy Protein Kinase, which plays an important role in maintenance of muscle structure and function. [provided by RefSeq, Dec 2012]

HSPB3 Gene

heat shock 27kDa protein 3

This g>gg>ene encodes a muscle-specific small heat shock protein. A mutation in this g>gg>ene is the cause of autosomal dominant distal hereditary motor neuropathy type 2C.[provided by RefSeq, Sep 2010]

HSPB1 Gene

heat shock 27kDa protein 1

This g>gg>ene encodes a member of the small heat shock protein (HSP20) family of proteins. In response to environmental stress, the encoded protein translocates from the cytoplasm to the nucleus and functions as a molecular chaperone that promotes the correct folding>gg> of other proteins. This protein plays an important role in the differentiation of a wide variety of cell types. Expression of this g>gg>ene is correlated with poor clinical outcome in multiple human cancers, and the encoded protein may promote cancer cell proliferation and metastasis, while protecting>gg> cancer cells from apoptosis. Mutations in this g>gg>ene have been identified in human patients with Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. [provided by RefSeq, Aug>gg> 2017]

LOC100996335 Gene

putative uncharacterized protein LOC388882

LOC100996337 Gene

transmembrane protein 191B-like

HSPB8 Gene

heat shock 22kDa protein 8

The protein encoded by this g>gg>ene belong>gg>s to the superfamily of small heat-shock proteins containing>gg> a conservative alpha-crystallin domain at the C-terminal part of the molecule. The expression of this g>gg>ene in induced by estrog>gg>en in estrog>gg>en g>receptorg>-positive breast cancer cells, and this protein also functions as a chaperone in association with Bag>gg>3, a stimulator of macroautophag>gg>y. Thus, this g>gg>ene appears to be involved in reg>gg>ulation of cell proliferation, apoptosis, and carcinog>gg>enesis, and mutations in this g>gg>ene have been associated with different neuromuscular diseases, including>gg> Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008]

KRTAP25-1 Gene

keratin associated protein 25-1

Predicted to enable structural molecule activity. Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS14P10 Gene

ribosomal protein S14 pseudog>gg>ene 10

LOC105372844 Gene

veg>gg>etative cell wall protein g>gg>p1-like

PPP1R26P4 Gene

protein phosphatase 1, reg>gg>ulatory subunit 26 pseudog>gg>ene 4

RPL10AP10 Gene

ribosomal protein L10a pseudog>gg>ene 10

RPL10AP11 Gene

ribosomal protein L10a pseudog>gg>ene 11

RPL10AP12 Gene

ribosomal protein L10a pseudog>gg>ene 12

RPL10AP13 Gene

ribosomal protein L10a pseudog>gg>ene 13

PBXIP1 Gene

pre-B-cell leukemia homeobox interacting>gg> protein 1

The protein encoded by this g>gg>ene interacts with the PBX1 homeodomain protein, inhibiting>gg> its transcriptional activation potential by preventing>gg> its binding>gg> to DNA. The encoded protein, which is primarily cytosolic but can shuttle to the nucleus, also can interact with estrog>gg>en g>receptorg>s alpha and beta and promote the proliferation of breast cancer, brain tumors, and lung>gg> cancer. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. More variants exist, but their full-leng>gg>th natures have yet to be determined. [provided by RefSeq, Dec 2015]

TTTY6B Gene

testis-specific transcript, Y-linked 6B (non-protein coding>gg>)

There are two copies of this locus in the P3 palindrome on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

IREB2 Gene

iron-responsive element binding>gg> protein 2

The protein encoded by this g>gg>ene is an RNA-binding>gg> protein that acts to reg>gg>ulate iron levels in the cells by reg>gg>ulating>gg> the translation and stability of mRNAs that affect iron homeostasis under conditions when iron is depleted. When iron levels are low, this protein binds to iron-responsive elements (IRES), stem-loop structures located either in the 5' or 3' UTRs. Binding>gg> to the 5' UTR represses translation, while binding>gg> to the 3' UTR inhibits mRNA deg>gg>radation. When iron is found in the cell, this protein is deg>gg>raded in a F-box and leucine rich repeat protein 5-dependent manner. Variants in this g>gg>ene have been associated with lung>gg> cancer and chronic obstructive pulmonary disease (COPD). Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Aug>gg> 2017]

BOLL Gene

boule-like RNA-binding>gg> protein

This g>gg>ene belong>gg>s to the DAZ g>gg>ene family required for g>gg>erm cell development. It encodes an RNA-binding>gg> protein which is more similar to Drosophila Boule than to human proteins encoded by g>gg>enes DAZ (deleted in azoospermia) or DAZL (deleted in azoospermia-like). Loss of this g>gg>ene function results in the absence of sperm in semen (azoospermia). Histolog>gg>ical studies demonstrated that the primary defect is at the meiotic g>Gg>2/M transition. Two alternatively spliced transcript variants encoding>gg> distinct isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

RPL37P22 Gene

ribosomal protein L37 pseudog>gg>ene 22

LINC01151 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1151

Predicted to be involved in RNA processing>gg>. Predicted to be located in nucleolus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100132723 Gene

sing>gg>le stranded DNA binding>gg> protein 4 pseudog>gg>ene

AJAP1 Gene

adherens junctions associated protein 1

Enables beta-catenin binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of cell-matrix adhesion; neg>gg>ative reg>gg>ulation of wound healing>gg>; and reg>gg>ulation of polarized epithelial cell differentiation. Located in several cellular components, including>gg> adherens junction; basolateral plasma membrane; and cell-cell contact zone. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM182 Gene

transmembrane protein 182

Predicted to be involved in myotube cell development involved in skeletal muscle reg>gg>eneration; neg>gg>ative reg>gg>ulation of myoblast differentiation; and neg>gg>ative reg>gg>ulation of myoblast fusion. Predicted to be located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM181 Gene

transmembrane protein 181

The TMEM181 g>gg>ene encodes a putative g>Gg> g>protein-coupledg> g>receptorg> expressed on the cell surface (Carette et al., 2009 [PubMed 19965467]; Wollscheid et al., 2009 [PubMed 19349973]).[supplied by OMIM, Jan 2010]

TMEM180 Gene

transmembrane protein 180

Located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM187 Gene

transmembrane protein 187

This g>gg>ene consists of two exons and encodes a multi-pass membrane protein. An alternatively spliced transcript variant encoding>gg> the same protein has been found, but its biolog>gg>ical validity is not determined. [provided by RefSeq, May 2010]

TMEM186 Gene

transmembrane protein 186

This g>gg>ene encodes a potential transmembrane protein. [provided by RefSeq, Dec 2012]

TMEM189 Gene

transmembrane protein 189

Co-transcription of this g>gg>ene and the neig>gg>hboring>gg> downstream g>gg>ene (ubiquitin-conjug>gg>ating>gg> enzyme E2 variant 1) g>gg>enerates a rare read-throug>gg>h transcript, which encodes a fusion protein comprised of sequence sharing>gg> identity with each individual g>gg>ene product. The protein encoded by this individual g>gg>ene lacks a UEV1 domain but includes three transmembrane reg>gg>ions. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jun 2009]

LOC100127917 Gene

heat shock protein 90kDa alpha (cytosolic), class B member 1 pseudog>gg>ene

KIAA1661 Gene

KIAA1661 protein

TAF7 Gene

TAF7 RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor, 55kDa

The intronless g>gg>ene for this transcription coactivator is located between the protocadherin beta and g>gg>amma g>gg>ene clusters on chromosome 5. The protein encoded by this g>gg>ene is a component of the TFIID protein complex, a complex which binds to the TATA box in class II promoters and recruits RNA polymerase II and other factors. This particular subunit interacts with the larg>gg>est TFIID subunit, as well as multiple transcription activators. The protein is required for transcription by promoters targ>gg>eted by RNA polymerase II. [provided by RefSeq, Jul 2008]

TAF6 Gene

TAF6 RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor, 80kDa

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for reg>gg>ulatory sig>gg>nals. TFIID is composed of the TATA-binding>gg> protein (TBP) and a g>gg>roup of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recog>gg>nition or modify g>gg>eneral transcription factors (g>Gg>TFs) to facilitate complex assembly and transcription initiation. This g>gg>ene encodes one of the smaller subunits of TFIID that binds weakly to TBP but strong>gg>ly to TAF1, the larg>gg>est subunit of TFIID. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jun 2010]

TAF5 Gene

TAF5 RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor, 100kDa

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for reg>gg>ulatory sig>gg>nals. TFIID is composed of the TATA-binding>gg> protein (TBP) and a g>gg>roup of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recog>gg>nition or modify g>gg>eneral transcription factors (g>Gg>TFs) to facilitate complex assembly and transcription initiation. This g>gg>ene encodes an integ>gg>ral subunit of TFIID associated with all transcriptionally competent forms of that complex. This subunit interacts strong>gg>ly with two TFIID subunits that show similarity to histones H3 and H4, and it may participate in forming>gg> a nucleosome-like core in the TFIID complex. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Dec 2015]

TAF4 Gene

TAF4 RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor, 135kDa

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for reg>gg>ulatory sig>gg>nals. TFIID is composed of the TATA-binding>gg> protein (TBP) and a g>gg>roup of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recog>gg>nition or modify g>gg>eneral transcription factors (g>Gg>TFs) to facilitate complex assembly and transcription initiation. This g>gg>ene encodes one of the larg>gg>er subunits of TFIID that has been shown to potentiate transcriptional activation by retinoic acid, thyroid hormone and vitamin D3 g>receptorg>s. In addition, this subunit interacts with the transcription factor CREB, which has a g>gg>lutamine-rich activation domain, and binds to other proteins containing>gg> g>gg>lutamine-rich reg>gg>ions. Aberrant binding>gg> to this subunit by proteins with expanded polyg>gg>lutamine reg>gg>ions has been sug>gg>g>gg>ested as one of the pathog>gg>enetic mechanisms underlying>gg> a g>gg>roup of neurodeg>gg>enerative disorders referred to as polyg>gg>lutamine diseases. [provided by RefSeq, Jul 2008]

TAF3 Gene

TAF3 RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor, 140kDa

The hig>gg>hly conserved RNA polymerase II transcription factor TFIID (see TAF1; MIM 313650) comprises the TATA box-binding>gg> protein (TBP; MIM 600075) and a set of TBP-associated factors (TAFs), including>gg> TAF3. TAFs contribute to promoter recog>gg>nition and selectivity and act as antiapoptotic factors (g>Gg>ang>gg>loff et al., 2001 [PubMed 11438666]).[supplied by OMIM, May 2009]

TAF2 Gene

TAF2 RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor, 150kDa

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for reg>gg>ulatory sig>gg>nals. TFIID is composed of the TATA-binding>gg> protein (TBP) and a g>gg>roup of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recog>gg>nition or modify g>gg>eneral transcription factors (g>Gg>TFs) to facilitate complex assembly and transcription initiation. This g>gg>ene encodes one of the larg>gg>er subunits of TFIID that is stably associated with the TFIID complex. It contributes to interactions at and downstream of the transcription initiation site, interactions that help determine transcription complex response to activators. [provided by RefSeq, Jul 2008]

TAF1 Gene

TAF1 RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor, 250kDa

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is the basal transcription factor TFIID, which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for reg>gg>ulatory sig>gg>nals. TFIID is composed of the TATA-binding>gg> protein (TBP) and a g>gg>roup of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recog>gg>nition or modify g>gg>eneral transcription factors (g>Gg>TFs) to facilitate complex assembly and transcription initiation. This g>gg>ene encodes the larg>gg>est subunit of TFIID. This subunit binds to core promoter sequences encompassing>gg> the transcription start site. It also binds to activators and other transcriptional reg>gg>ulators, and these interactions affect the rate of transcription initiation. This subunit contains two independent protein kinase domains at the N- and C-terminals, but also possesses acetyltransferase activity and can act as a ubiquitin-activating>gg>/conjug>gg>ating>gg> enzyme. Mutations in this g>gg>ene result in Dystonia 3, torsion, X-linked, a dystonia-parkinsonism disorder. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants. This g>gg>ene is part of a complex transcription unit (TAF1/DYT3), wherein some transcript variants share exons with TAF1 as well as additional downstream DYT3 exons. [provided by RefSeq, Oct 2013]

TAF9 Gene

TAF9 RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor, 32kDa

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for reg>gg>ulatory sig>gg>nals. TFIID is composed of the TATA-binding>gg> protein (TBP) and a g>gg>roup of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recog>gg>nition or modify g>gg>eneral transcription factors (g>Gg>TFs) to facilitate complex assembly and transcription initiation. This g>gg>ene encodes one of the smaller subunits of TFIID that binds to the basal transcription factor g>Gg>TF2B as well as to several transcriptional activators such as p53 and VP16. In human, TAF9 and AK6 (g>Gg>eneID: 102157402) are two distinct g>gg>enes that share 5' exons. A similar but distinct g>gg>ene (TAF9L) has been found on the X chromosome and a pseudog>gg>ene has been identified on chromosome 19. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Sep 2013]

FNIP1 Gene

folliculin interacting>gg> protein 1

This g>gg>ene encodes a protein that binds to the tumor suppressor protein folliculin and to AMP-activated protein kinase (AMPK). The encoded protein participates in the reg>gg>ulation of cellular metabolism and nutrient sensing>gg> by modulating>gg> the AMPK and targ>gg>et of rapamycin sig>gg>naling>gg> pathways. This g>gg>ene has a closely related paralog>gg> that encodes a protein with similar binding>gg> activities. Both related proteins also associate with the molecular chaperone heat shock protein-90 (Hsp90) and neg>gg>atively reg>gg>ulate its ATPase activity and facilitate its association with folliculin. [provided by RefSeq, Jul 2017]

FNIP2 Gene

folliculin interacting>gg> protein 2

This g>gg>ene encodes a protein that binds to the tumor suppressor folliculin and to AMP-activated protein kinase (AMPK), and may play a role cellular metabolism and nutrient sensing>gg> by reg>gg>ulating>gg> the AMPK-mechanistic targ>gg>et of rapamycin sig>gg>naling>gg> pathway. The encoded protein may also be involved in reg>gg>ulating>gg> the O6-methylg>gg>uanine-induced apoptosis sig>gg>naling>gg> pathway. This g>gg>ene has a closely related paralog>gg> that encodes a protein with similar binding>gg> activities. Both related proteins also associate with the molecular chaperone heat shock protein-90 (Hsp90) and neg>gg>atively reg>gg>ulate its ATPase activity and facilitate its association with folliculin. [provided by RefSeq, Jul 2017]

LINC00968 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 968

HDLBP Gene

hig>gg>h density lipoprotein binding>gg> protein

The protein encoded by this g>gg>ene binds hig>gg>h density lipoprotein (HDL) and may function to reg>gg>ulate excess cholesterol levels in cells. The encoded protein also binds RNA and can induce heterochromatin formation. [provided by RefSeq, Mar 2016]

LOC101929835 Gene

putative protein FAM90A15P

LOC100329129 Gene

proteolipid protein 2 (colonic epithelium-enriched) pseudog>gg>ene

LOC101930073 Gene

putative uncharacterized protein ENSP00000383309

LOC105373926 Gene

putative HERV-K_Xq28 provirus ancestral Pol protein

LOC57399 Gene

uncharacterized g>gg>astric protein ZA52P

LINC01005 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1005

SEC22C Gene

SEC22 vesicle trafficking>gg> protein homolog>gg> C (S. cerevisiae)

This g>gg>ene encodes a member of the SEC22 family of vesicle trafficking>gg> proteins. The encoded protein is localized to the endoplasmic reticulum and may play a role in the early stag>gg>es of ER-g>Gg>olg>gg>i protein trafficking>gg>. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Jan 2011]

SEC22B Gene

SEC22 vesicle trafficking>gg> protein homolog>gg> B (S. cerevisiae) (g>gg>ene/pseudog>gg>ene)

The protein encoded by this g>gg>ene is a member of the SEC22 family of vesicle trafficking>gg> proteins. It seems to complex with SNARE and it is thoug>gg>ht to play a role in the ER-g>Gg>olg>gg>i protein trafficking>gg>. This protein has strong>gg> similarity to Mus musculus and Cricetulus g>gg>riseus proteins.[provided by RefSeq, Sep 2009]

SEC22A Gene

SEC22 vesicle trafficking>gg> protein homolog>gg> A (S. cerevisiae)

The protein encoded by this g>gg>ene belong>gg>s to the member of the SEC22 family of vesicle trafficking>gg> proteins. This protein has similarity to rat SEC22 and may act in the early stag>gg>es of the secretory pathway. [provided by RefSeq, Nov 2008]

LOC100130612 Gene

TAF9 RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor, 32kDa pseudog>gg>ene

RBBP6P1 Gene

retinoblastoma binding>gg> protein 6 pseudog>gg>ene 1

PRNT Gene

prion protein (testis specific)

Predicted to be located in extracellular reg>gg>ion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PRNP Gene

prion protein

The protein encoded by this g>gg>ene is a membrane g>gg>lycosylphosphatidylinositol-anchored g>gg>lycoprotein that tends to ag>gg>g>gg>reg>gg>ate into rod-like structures. The encoded protein contains a hig>gg>hly unstable reg>gg>ion of five tandem octapeptide repeats. This g>gg>ene is found on chromosome 20, approximately 20 kbp upstream of a g>gg>ene which encodes a biochemically and structurally similar protein to the one encoded by this g>gg>ene. Mutations in the repeat reg>gg>ion as well as elsewhere in this g>gg>ene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, g>Gg>erstmann-Straussler disease, Hunting>gg>ton disease-like 1, and kuru. An overlapping>gg> open reading>gg> frame has been found for this g>gg>ene that encodes a smaller, structurally unrelated protein, AltPrp. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Nov 2014]

TMEM59 Gene

transmembrane protein 59

This g>gg>ene encodes a protein shown to reg>gg>ulate autophag>gg>y in response to bacterial infection. This protein may also reg>gg>ulate the retention of amyloid precursor protein (APP) in the g>Gg>olg>gg>i apparatus throug>gg>h its control of APP g>gg>lycosylation. Overexpression of this protein has been found to promote apoptosis in a g>gg>lioma cell line. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Feb 2015]

PRND Gene

prion protein 2 (dublet)

This g>gg>ene is found on chromosome 20, approximately 20 kbp downstream of the g>gg>ene encoding>gg> cellular prion protein, to which it is biochemically and structurally similar. The protein encoded by this g>gg>ene is a membrane g>gg>lycosylphosphatidylinositol-anchored g>gg>lycoprotein that is found predominantly in testis. Mutations in this g>gg>ene may lead to neurolog>gg>ical disorders. [provided by RefSeq, Jul 2008]

TMEM57 Gene

transmembrane protein 57

Predicted to enable microtubule binding>gg> activity. Involved in neuronal sig>gg>nal transduction. Located in roug>gg>h endoplasmic reticulum membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM54 Gene

transmembrane protein 54

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM52 Gene

transmembrane protein 52

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM53 Gene

transmembrane protein 53

Involved in neg>gg>ative reg>gg>ulation of BMP sig>gg>naling>gg> pathway; neg>gg>ative reg>gg>ulation of ossification; and reg>gg>ulation of nucleocytoplasmic transport. Located in nuclear membrane. Implicated in craniotubular dysplasia Ikeg>gg>awa type. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM51 Gene

transmembrane protein 51

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

Mg>Gg>C15885 Gene

uncharacterized protein Mg>Gg>C15885

RPL26P32 Gene

ribosomal protein L26 pseudog>gg>ene 32

ZNF677 Gene

zinc fing>gg>er protein 677

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF676 Gene

zinc fing>gg>er protein 676

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF675 Gene

zinc fing>gg>er protein 675

Enables ubiquitin protein lig>gg>ase binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of osteoclast differentiation; neg>gg>ative reg>gg>ulation of sig>gg>nal transduction; and reg>gg>ulation of DNA-templated transcription. Located in nucleus and perinuclear reg>gg>ion of cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF674 Gene

zinc fing>gg>er protein 674

This g>gg>ene encodes a zinc fing>gg>er protein with an N-terminal Kruppel-associated box-containing>gg> (KRAB) domain and 11 Kruppel-type C2H2 zinc fing>gg>er domains. Like other zinc fing>gg>er proteins, this g>gg>ene may function as a transcription factor. This g>gg>ene resides on an area of chromosome X that has been implicated in nonsyndromic X-linked cog>gg>nitive disabilities. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Jul 2017]

ZNF672 Gene

zinc fing>gg>er protein 672

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF671 Gene

zinc fing>gg>er protein 671

Predicted to enable DNA-binding>gg> transcription factor activity and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF670 Gene

zinc fing>gg>er protein 670

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Acts upstream of or within lipid metabolic process. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF679 Gene

zinc fing>gg>er protein 679

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF678 Gene

zinc fing>gg>er protein 678

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS2P19 Gene

ribosomal protein S2 pseudog>gg>ene 19

RPS2P18 Gene

ribosomal protein S2 pseudog>gg>ene 18

RPS2P17 Gene

ribosomal protein S2 pseudog>gg>ene 17

RPS2P15 Gene

ribosomal protein S2 pseudog>gg>ene 15

RPS2P14 Gene

ribosomal protein S2 pseudog>gg>ene 14

RPS2P13 Gene

ribosomal protein S2 pseudog>gg>ene 13

RPS2P12 Gene

ribosomal protein S2 pseudog>gg>ene 12

RPS2P11 Gene

ribosomal protein S2 pseudog>gg>ene 11

RPS2P10 Gene

ribosomal protein S2 pseudog>gg>ene 10

SHC1P2 Gene

SHC (Src homolog>gg>y 2 domain containing>gg>) transforming>gg> protein 1 pseudog>gg>ene 2

SHC1P1 Gene

SHC (Src homolog>gg>y 2 domain containing>gg>) transforming>gg> protein 1 pseudog>gg>ene 1

RPL21P55 Gene

ribosomal protein L21 pseudog>gg>ene 55

RPL21P56 Gene

ribosomal protein L21 pseudog>gg>ene 56

RPL21P57 Gene

ribosomal protein L21 pseudog>gg>ene 57

RPL21P50 Gene

ribosomal protein L21 pseudog>gg>ene 50

RPL21P51 Gene

ribosomal protein L21 pseudog>gg>ene 51

RPL21P52 Gene

ribosomal protein L21 pseudog>gg>ene 52

RPL21P53 Gene

ribosomal protein L21 pseudog>gg>ene 53

RPL21P58 Gene

ribosomal protein L21 pseudog>gg>ene 58

RPL21P59 Gene

ribosomal protein L21 pseudog>gg>ene 59

MPV17 Gene

MpV17 mitochondrial inner membrane protein

This g>gg>ene encodes a mitochondrial inner membrane protein that is implicated in the metabolism of reactive oxyg>gg>en species. Mutations in this g>gg>ene have been associated with the hepatocerebral form of mitochondrial DNA depletion syndrome (MDDS). [provided by RefSeq, Jul 2008]

LOC645960 Gene

ribosomal protein L10 pseudog>gg>ene

TMEM198B Gene

transmembrane protein 198B, pseudog>gg>ene

LOC101929816 Gene

ankyrin repeat domain-containing>gg> protein 30A-like

MAFIP Gene

MAFF interacting>gg> protein (pseudog>gg>ene)

This g>gg>ene was orig>gg>inally thoug>gg>ht to be a protein coding>gg> g>gg>ene. However, the encoded protein sequence is hig>gg>hly similar to the C-terminal sequence of the tektin-4 protein, and the transcript sequences of this g>gg>ene are hig>gg>hly similar to the TEKT4 pseudog>gg>enes, which are found on chromosomes 4, 21 and Y, respectively. Therefore, this g>gg>ene is thoug>gg>ht to be another pseudog>gg>ene of the TEKT4 g>gg>ene (g>Gg>eneID:150483). Multiple alternatively spliced transcript variants have been found for this g>gg>ene. [provided by RefSeq, Mar 2012]

TMEM154 Gene

transmembrane protein 154

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

DMTN Gene

dematin actin binding>gg> protein

The protein encoded by this g>gg>ene is an actin binding>gg> and bundling>gg> protein that plays a structural role in erythrocytes, by stabilizing>gg> and attaching>gg> the spectrin/actin cytoskeleton to the erythrocyte membrane in a phosphorylation-dependent manner. This protein contains a core domain in the N-terminus, and a headpiece domain in the C-terminus that binds F-actin. When purified from erythrocytes, this protein exists as a trimer composed of two 48 kDa polypeptides and a 52 kDa polypeptide. The different subunits arise from alternative splicing>gg> in the 3' coding>gg> reg>gg>ion, where the headpiece domain is located. Disruption of this g>gg>ene has been correlated with the autosomal dominant Marie Unna hereditary hypotrichosis disease, while loss of heterozyg>gg>osity of this g>gg>ene is thoug>gg>ht to play a role in prostate cancer prog>gg>ression. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Nov 2014]

LINC00892 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 892

LINC00893 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 893

LINC00890 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 890

Predicted to be located in membrane. Predicted to be active in intracellular membrane-bounded org>gg>anelle. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00891 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 891

LINC00896 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 896

LINC00894 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 894

LINC00895 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 895

LINC00898 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 898

LINC00899 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 899

LOC100129321 Gene

sing>gg>le stranded DNA binding>gg> protein 3 pseudog>gg>ene

ZFP69 Gene

ZFP69 zinc fing>gg>er protein

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of lipid metabolic process and reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZFP64 Gene

ZFP64 zinc fing>gg>er protein

Predicted to enable DNA binding>gg> activity and metal ion binding>gg> activity. Involved in mesenchymal cell differentiation. Located in cytoplasm and meg>gg>asporocyte nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZFP62 Gene

ZFP62 zinc fing>gg>er protein

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ARL14EP Gene

ADP-ribosylation factor-like 14 effector protein

The protein encoded by this g>gg>ene is an effector protein. It interacts with ADP-ribosylation factor-like 14 [ARL14, also known as ADP-ribosylation factor 7 (ARF7)], beta-actin (ACTB) and actin-based motor protein myosin 1E (MYO1E). ARL14 is a small g>Gg>TPase; it controls the export of major histocompatibility class II molecules by connecting>gg> to the actin network via this effector protein. [provided by RefSeq, Sep 2014]

ZWINT Gene

ZW10 interacting>gg> kinetochore protein

This g>gg>ene encodes a protein that is clearly involved in kinetochore function althoug>gg>h an exact role is not known. It interacts with ZW10, another kinetochore protein, possibly reg>gg>ulating>gg> the association between ZW10 and kinetochores. The encoded protein localizes to prophase kinetochores before ZW10 does and it remains detectable on the kinetochore until late anaphase. It has a uniform distribution in the cytoplasm of interphase cells. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

Eg>Gg>OT Gene

eosinophil g>gg>ranule ontog>gg>eny transcript (non-protein coding>gg>)

Biomarker of cong>gg>estive heart failure. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CDY20P Gene

chromodomain protein, Y-linked 20 pseudog>gg>ene

PRKg>Gg>1 Gene

protein kinase, cg>Gg>MP-dependent, type I

Mammals have three different isoforms of cyclic g>Gg>MP-dependent protein kinase (Ialpha, Ibeta, and II). These PRKg>Gg> isoforms act as key mediators of the nitric oxide/cg>Gg>MP sig>gg>naling>gg> pathway and are important components of many sig>gg>nal transduction processes in diverse cell types. This PRKg>Gg>1 g>gg>ene on human chromosome 10 encodes the soluble Ialpha and Ibeta isoforms of PRKg>Gg> by alternative transcript splicing>gg>. A separate g>gg>ene on human chromosome 4, PRKg>Gg>2, encodes the membrane-bound PRKg>Gg> isoform II. The PRKg>Gg>1 proteins play a central role in reg>gg>ulating>gg> cardiovascular and neuronal functions in addition to relaxing>gg> smooth muscle tone, preventing>gg> platelet ag>gg>g>gg>reg>gg>ation, and modulating>gg> cell g>gg>rowth. This g>gg>ene is most strong>gg>ly expressed in all types of smooth muscle, platelets, cerebellar Purkinje cells, hippocampal neurons, and the lateral amyg>gg>dala. Isoforms Ialpha and Ibeta have identical cg>Gg>MP-binding>gg> and catalytic domains but differ in their leucine/isoleucine zipper and autoinhibitory sequences and therefore differ in their dimerization substrates and kinase enzyme activity. [provided by RefSeq, Sep 2011]

PRKg>Gg>2 Gene

protein kinase, cg>Gg>MP-dependent, type II

This g>gg>ene encodes a protein that belong>gg>s to the serine/threonine protein kinase family of proteins. The encoded protein binds to and inhibits the activation of several g>receptorg> tyrosine kinases. The membrane-bound protein is a reg>gg>ulator of intestinal secretion, bone g>gg>rowth and renin secretion. Alternate splicing>gg> results in multiple transcript variants encoding>gg> distinct isoforms whose reg>gg>ulatory N-termini differ in leng>gg>th but whose C-terminal catalytic domains are identical. [provided by RefSeq, May 2018]

Ig>Gg>BP1P1 Gene

immunog>gg>lobulin (CD79A) binding>gg> protein 1 pseudog>gg>ene 1

Ig>Gg>BP1P2 Gene

immunog>gg>lobulin (CD79A) binding>gg> protein 1 pseudog>gg>ene 2

Predicted to enable protein phosphatase 2A binding>gg> activity. Predicted to be involved in reg>gg>ulation of dephosphorylation. Predicted to be active in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

Ig>Gg>BP1P3 Gene

immunog>gg>lobulin (CD79A) binding>gg> protein 1 pseudog>gg>ene 3

Ig>Gg>BP1P4 Gene

immunog>gg>lobulin (CD79A) binding>gg> protein 1 pseudog>gg>ene 4

Ig>Gg>BP1P5 Gene

immunog>gg>lobulin (CD79A) binding>gg> protein 1 pseudog>gg>ene 5

PMEPA1 Gene

prostate transmembrane protein, androg>gg>en induced 1

This g>gg>ene encodes a transmembrane protein that contains a Smad interacting>gg> motif (SIM). Expression of this g>gg>ene is induced by androg>gg>ens and transforming>gg> g>gg>rowth factor beta, and the encoded protein suppresses the androg>gg>en g>receptorg> and transforming>gg> g>gg>rowth factor beta sig>gg>naling>gg> pathways thoug>gg>h interactions with Smad proteins. Overexpression of this g>gg>ene may play a role in multiple types of cancer. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Dec 2011]

LOC105370971 Gene

putative protein TPRXL

RPL21P16 Gene

ribosomal protein L21 pseudog>gg>ene 16

HINT2P1 Gene

histidine triad nucleotide binding>gg> protein 2 pseudog>gg>ene 1

LINC01442 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1442

LINC01443 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1443

LINC01440 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1440

LINC01446 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1446

LINC01447 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1447

LINC01444 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1444

LINC01445 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1445

LINC01448 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1448

LINC01449 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1449

LOC100287335 Gene

transmembrane protein 183A pseudog>gg>ene

LOC105375618 Gene

putative uncharacterized protein FLJ44672

TARBP2P Gene

TAR (HIV-1) RNA binding>gg> protein 2 pseudog>gg>ene

g>Gg>SAP Gene

g>gg>amma-secretase activating>gg> protein

Accumulation of neurotoxic amyloid-beta is a major hallmark of Alzheimer disease (AD; MIM 104300). Formation of amyloid-beta is catalyzed by g>gg>amma-secretase (see PSEN1; MIM 104311), a protease with numerous substrates. PION, or g>Gg>SAP, selectively increases amyloid-beta production throug>gg>h a mechanism involving>gg> its interaction with both g>gg>amma-secretase and its substrate, the amyloid-beta precursor protein (APP; MIM 104760) C-terminal frag>gg>ment (APP-CTF) (He et al., 2010 [PubMed 20811458]).[supplied by OMIM, Nov 2010]

C4BPAP3 Gene

complement component 4 binding>gg> protein, alpha pseudog>gg>ene 3

C4BPAP2 Gene

complement component 4 binding>gg> protein, alpha pseudog>gg>ene 2

LOC646140 Gene

ribosomal protein L7-like 1 pseudog>gg>ene

ZNF385C Gene

zinc fing>gg>er protein 385C

Predicted to enable nucleic acid binding>gg> activity and zinc ion binding>gg> activity. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF385B Gene

zinc fing>gg>er protein 385B

Enables p53 binding>gg> activity. Involved in intrinsic apoptotic sig>gg>naling>gg> pathway by p53 class mediator. Located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF385A Gene

zinc fing>gg>er protein 385A

Zinc fing>gg>er proteins, such as ZNF385A, are reg>gg>ulatory proteins that act as transcription factors, bind sing>gg>le- or double-stranded RNA, or interact with other proteins (Sharma et al., 2004 [PubMed 15527981]).[supplied by OMIM, Oct 2008]

RAP1g>Gg>AP2 Gene

RAP1 g>Gg>TPase activating>gg> protein 2

This g>gg>ene encodes a g>Gg>TPase-activating>gg> protein that activates the small g>gg>uanine-nucleotide-binding>gg> protein Rap1 in platelets. The protein interacts with synaptotag>gg>min-like protein 1 and Rab27 and reg>gg>ulates secretion of dense g>gg>ranules from platelets at sites of endothelial damag>gg>e. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Sep 2009]

ECM1P1 Gene

extracellular matrix protein 1 pseudog>gg>ene 1

ECM2 Gene

extracellular matrix protein 2, female org>gg>an and adipocyte specific

ECM2 encodes extracellular matrix protein 2, so named because it shares extensive similarity with known extracelluar matrix proteins. Three transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Oct 2010]

ECM1 Gene

extracellular matrix protein 1

This g>gg>ene encodes a soluble protein that is involved in endochondral bone formation, ang>gg>iog>gg>enesis, and tumor biolog>gg>y. It also interacts with a variety of extracellular and structural proteins, contributing>gg> to the maintenance of skin integ>gg>rity and homeostasis. Mutations in this g>gg>ene are associated with lipoid proteinosis disorder (also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease) that is characterized by g>gg>eneralized thickening>gg> of skin, mucosae and certain viscera. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been described for this g>gg>ene. [provided by RefSeq, Feb 2011]

RAB3IL1 Gene

RAB3A interacting>gg> protein (rabin3)-like 1

This g>gg>ene encodes a g>gg>uanine nucleotide exchang>gg>e factor for the ras-related protein Rab3A. The encoded protein binds Rab3a and the inositol hexakisphosphate kinase InsP6K1. Alternative splicing>gg> results in multiple transcript variants. A related pseudog>gg>ene has been identified on chromosome 7. [provided by RefSeq, Nov 2012]

NAP1L1 Gene

nucleosome assembly protein 1-like 1

This g>gg>ene encodes a member of the nucleosome assembly protein (NAP) family. This protein participates in DNA replication and may play a role in modulating>gg> chromatin formation and contribute to the reg>gg>ulation of cell proliferation. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms; however, not all have been fully described. [provided by RefSeq, Apr 2015]

NAP1L2 Gene

nucleosome assembly protein 1-like 2

The protein encoded by this intronless g>gg>ene is a member of the nucleosome assembly protein (NAP) family. The encoded protein represents a class of tissue-specific factors that interact with chromatin to reg>gg>ulate neuronal cell proliferation. [provided by RefSeq, Jan 2011]

NAP1L3 Gene

nucleosome assembly protein 1-like 3

This g>gg>ene is intronless and encodes a member of the nucleosome assembly protein (NAP) family. This g>gg>ene is linked closely to a reg>gg>ion of g>gg>enes responsible for several X-linked cog>gg>nitive disability syndromes. [provided by RefSeq, Dec 2010]

NAP1L4 Gene

nucleosome assembly protein 1-like 4

This g>gg>ene encodes a member of the nucleosome assembly protein (NAP) family which can interact with both core and linker histones. It can shuttle between the cytoplasm and nucleus, sug>gg>g>gg>esting>gg> a role as a histone chaperone. This g>gg>ene is one of several located near the imprinted g>gg>ene domain of 11p15.5, an important tumor-suppressor g>gg>ene reg>gg>ion. Alterations in this reg>gg>ion have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung>gg>, ovarian, and breast cancer. [provided by RefSeq, Jul 2008]

NAP1L5 Gene

nucleosome assembly protein 1-like 5

This g>gg>ene encodes a protein that shares sequence similarity to nucleosome assembly factors, but may be localized to the cytoplasm rather than the nucleus. Expression of this g>gg>ene is downreg>gg>ulated in hepatocellular carcinomas. This g>gg>ene is located within a differentially methylated reg>gg>ion (DMR) and is imprinted and paternally expressed. There is a related pseudog>gg>ene on chromosome 4. [provided by RefSeq, Nov 2015]

NAP1L6 Gene

nucleosome assembly protein 1-like 6

Predicted to be involved in nucleosome assembly. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

HSP90AA5P Gene

heat shock protein 90kDa alpha (cytosolic), class A member 5, pseudog>gg>ene

Predicted to enable several functions, including>gg> ATP binding>gg> activity; ATP hydrolysis activity; and ATP-dependent protein folding>gg> chaperone. Predicted to be involved in protein folding>gg>. Predicted to be located in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

S100A11P4 Gene

S100 calcium binding>gg> protein A11 pseudog>gg>ene 4

S100A11P2 Gene

S100 calcium binding>gg> protein A11 pseudog>gg>ene 2

S100A11P3 Gene

S100 calcium binding>gg> protein A11 pseudog>gg>ene 3

S100A11P1 Gene

S100 calcium binding>gg> protein A11 pseudog>gg>ene 1

UBE3AP1 Gene

ubiquitin protein lig>gg>ase E3A pseudog>gg>ene 1

UBE3AP2 Gene

ubiquitin protein lig>gg>ase E3A pseudog>gg>ene 2

MYLIP Gene

myosin reg>gg>ulatory lig>gg>ht chain interacting>gg> protein

The ERM protein family members ezrin, radixin, and moesin are cytoskeletal effector proteins linking>gg> actin to membrane-bound proteins at the cell surface. Myosin reg>gg>ulatory lig>gg>ht chain interacting>gg> protein (MYLIP) is a novel ERM-like protein that interacts with myosin reg>gg>ulatory lig>gg>ht chain and inhibits neurite outg>gg>rowth. [provided by RefSeq, Jul 2008]

TWF1 Gene

twinfilin actin binding>gg> protein 1

This g>gg>ene encodes twinfilin, an actin monomer-binding>gg> protein conserved from yeast to mammals. Studies of the mouse counterpart sug>gg>g>gg>est that this protein may be an actin monomer-binding>gg> protein, and its localization to cortical g>Gg>-actin-rich structures may be reg>gg>ulated by the small g>Gg>TPase RAC1. [provided by RefSeq, Jul 2008]

TWF2 Gene

twinfilin actin binding>gg> protein 2

The protein encoded by this g>gg>ene was identified by its interaction with the catalytic domain of protein kinase C-zeta. The encoded protein contains an actin-binding>gg> site and an ATP-binding>gg> site. It is most closely related to twinfilin (PTK9), a conserved actin monomer-binding>gg> protein. [provided by RefSeq, Jul 2008]

RNFT1P1 Gene

ring>gg> fing>gg>er protein, transmembrane 1 pseudog>gg>ene 1

RNFT1P2 Gene

ring>gg> fing>gg>er protein, transmembrane 1 pseudog>gg>ene 2

AKAP11 Gene

A kinase (PRKA) anchor protein 11

The A-kinase anchor proteins (AKAPs) are a g>gg>roup of structurally diverse proteins, which have the common function of binding>gg> to the reg>gg>ulatory subunit of protein kinase A (PKA) and confining>gg> the holoenzyme to discrete locations within the cell. This g>gg>ene encodes a member of the AKAP family. The encoded protein is expressed at hig>gg>h levels throug>gg>hout spermatog>gg>enesis and in mature sperm. It binds the RI and RII subunits of PKA in testis. It may serve a function in cell cycle control of both somatic cells and g>gg>erm cells in addition to its putative role in spermatog>gg>enesis and sperm function. [provided by RefSeq, Jul 2008]

USHBP1 Gene

Usher syndrome 1C binding>gg> protein 1

Enables PDZ domain binding>gg> activity. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100130102 Gene

WW domain binding>gg> protein 11 pseudog>gg>ene

LOC100130801 Gene

lupus La protein pseudog>gg>ene

RPL39P4 Gene

ribosomal protein L39 pseudog>gg>ene 4

RPL39P7 Gene

ribosomal protein L39 pseudog>gg>ene 7

RPL39P6 Gene

ribosomal protein L39 pseudog>gg>ene 6

RPL39P3 Gene

ribosomal protein L39 pseudog>gg>ene 3

RPL39P2 Gene

ribosomal protein L39 pseudog>gg>ene 2

RPL39P9 Gene

ribosomal protein L39 pseudog>gg>ene 9

RPL39P8 Gene

ribosomal protein L39 pseudog>gg>ene 8

LOC105373606 Gene

endog>gg>enous retrovirus g>gg>roup K member 25 Pol protein-like

RPL34P1 Gene

ribosomal protein L34 pseudog>gg>ene 1

RPL34P2 Gene

ribosomal protein L34 pseudog>gg>ene 2

RPL34P3 Gene

ribosomal protein L34 pseudog>gg>ene 3

RPL34P4 Gene

ribosomal protein L34 pseudog>gg>ene 4

RPL34P5 Gene

ribosomal protein L34 pseudog>gg>ene 5

RPL34P6 Gene

ribosomal protein L34 pseudog>gg>ene 6

RPL34P7 Gene

ribosomal protein L34 pseudog>gg>ene 7

RPSAP34 Gene

ribosomal protein SA pseudog>gg>ene 34

RPSAP35 Gene

ribosomal protein SA pseudog>gg>ene 35

RPSAP36 Gene

ribosomal protein SA pseudog>gg>ene 36

RPSAP37 Gene

ribosomal protein SA pseudog>gg>ene 37

Mg>Gg>C16723 Gene

uncharacterized protein Mg>Gg>C16723

RPSAP31 Gene

ribosomal protein SA pseudog>gg>ene 31

RPSAP32 Gene

ribosomal protein SA pseudog>gg>ene 32

RPSAP33 Gene

ribosomal protein SA pseudog>gg>ene 33

RPSAP38 Gene

ribosomal protein SA pseudog>gg>ene 38

RPSAP39 Gene

ribosomal protein SA pseudog>gg>ene 39

MAPK14 Gene

mitog>gg>en-activated protein kinase 14

The protein encoded by this g>gg>ene is a member of the MAP kinase family. MAP kinases act as an integ>gg>ration point for multiple biochemical sig>gg>nals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription reg>gg>ulation and development. This kinase is activated by various environmental stresses and proinflammatory cytokines. The activation requires its phosphorylation by MAP kinase kinases (MKKs), or its autophosphorylation trig>gg>g>gg>ered by the interaction of MAP3K7IP1/TAB1 protein with this kinase. The substrates of this kinase include transcription reg>gg>ulator ATF2, MEF2C, and MAX, cell cycle reg>gg>ulator CDC25B, and tumor suppressor p53, which sug>gg>g>gg>est the roles of this kinase in stress related transcription and cell cycle reg>gg>ulation, as well as in g>gg>enotoxic stress response. Four alternatively spliced transcript variants of this g>gg>ene encoding>gg> distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

MAPK15 Gene

mitog>gg>en-activated protein kinase 15

Enables MAP kinase activity and chromatin binding>gg> activity. Involved in several processes, including>gg> dopamine uptake; protein localization to ciliary transition zone; and reg>gg>ulation of org>gg>anelle org>gg>anization. Located in several cellular components, including>gg> g>Gg>olg>gg>i apparatus; autophag>gg>osome; and microtubule org>gg>anizing>gg> center. Biomarker of breast cancer. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MAPK10 Gene

mitog>gg>en-activated protein kinase 10

The protein encoded by this g>gg>ene is a member of the MAP kinase family. MAP kinases act as integ>gg>ration points for multiple biochemical sig>gg>nals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription reg>gg>ulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system, and is activated by threonine and tyrosine phosphorylation. Targ>gg>eted deletion of this g>gg>ene in mice sug>gg>g>gg>ests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding>gg> different isoforms have been described for this g>gg>ene. A recent study provided evidence for translational readthroug>gg>h in this g>gg>ene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]

MAPK11 Gene

mitog>gg>en-activated protein kinase 11

This g>gg>ene encodes a member of a family of protein kinases that are involved in the integ>gg>ration of biochemical sig>gg>nals for a wide variety of cellular processes, including>gg> cell proliferation, differentiation, transcriptional reg>gg>ulation, and development. The encoded protein can be activated by proinflammatory cytokines and environmental stresses throug>gg>h phosphorylation by mitog>gg>en activated protein kinase kinases (MKKs). Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Mar 2014]

MAPK12 Gene

mitog>gg>en-activated protein kinase 12

Activation of members of the mitog>gg>en-activated protein kinase family is a major mechanism for transduction of extracellular sig>gg>nals. Stress-activated protein kinases are one subclass of MAP kinases. The protein encoded by this g>gg>ene functions as a sig>gg>nal transducer during>gg> differentiation of myoblasts to myotubes. [provided by RefSeq, Jul 2008]

MAPK13 Gene

mitog>gg>en-activated protein kinase 13

This g>gg>ene encodes a member of the mitog>gg>en-activated protein (MAP) kinase family. MAP kinases act as an integ>gg>ration point for multiple biochemical sig>gg>nals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription reg>gg>ulation and development. The encoded protein is a p38 MAP kinase and is activated by proinflammatory cytokines and cellular stress. Substrates of the encoded protein include the transcription factor ATF2 and the microtubule dynamics reg>gg>ulator stathmin. Alternatively spliced transcript variants have been observed for this g>gg>ene. [provided by RefSeq, Jul 2012]

RPL26P28 Gene

ribosomal protein L26 pseudog>gg>ene 28

RPL26P27 Gene

ribosomal protein L26 pseudog>gg>ene 27

RPS18P14 Gene

ribosomal protein S18 pseudog>gg>ene 14

RPS18P11 Gene

ribosomal protein S18 pseudog>gg>ene 11

RPS18P10 Gene

ribosomal protein S18 pseudog>gg>ene 10

RPS18P13 Gene

ribosomal protein S18 pseudog>gg>ene 13

RPS18P12 Gene

ribosomal protein S18 pseudog>gg>ene 12

3.8-1.4 Gene

HLA complex g>gg>roup 26 (non-protein coding>gg>) pseudog>gg>ene

3.8-1.5 Gene

HLA complex g>gg>roup 26 (non-protein coding>gg>) pseudog>gg>ene

3.8-1.2 Gene

HLA complex g>gg>roup 26 (non-protein coding>gg>) pseudog>gg>ene

PICK1 Gene

protein interacting>gg> with PRKCA 1

The protein encoded by this g>gg>ene contains a PDZ domain, throug>gg>h which it interacts with protein kinase C, alpha (PRKCA). This protein may function as an adaptor that binds to and org>gg>anizes the subcellular localization of a variety of membrane proteins. It has been shown to interact with multiple g>gg>lutamate g>receptorg> subtypes, monoamine plasma membrane transporters, as well as non-voltag>gg>e g>gg>ated sodium channels, and may targ>gg>et PRKCA to these membrane proteins and thus reg>gg>ulate their distribution and function. This protein has also been found to act as an anchoring>gg> protein that specifically targ>gg>ets PRKCA to mitochondria in a lig>gg>and-specific manner. Three transcript variants encoding>gg> the same protein have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

LOC100422491 Gene

amyloid beta (A4) precursor protein-binding>gg>, family A, member 2 pseudog>gg>ene

LOC100422492 Gene

amyloid beta (A4) precursor protein-binding>gg>, family A, member 2 pseudog>gg>ene

LOC100419583 Gene

ring>gg> fing>gg>er protein 4 pseudog>gg>ene

LOC391711 Gene

tripartite motif-containing>gg> protein 60-like

CKS1BP4 Gene

CDC28 protein kinase reg>gg>ulatory subunit 1B pseudog>gg>ene 4

ZNF654 Gene

zinc fing>gg>er protein 654

Predicted to enable DNA-binding>gg> transcription factor activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TARBP2 Gene

TAR (HIV-1) RNA binding>gg> protein 2

HIV-1, the causative ag>gg>ent of acquired immunodeficiency syndrome (AIDS), contains an RNA g>gg>enome that produces a chromosomally integ>gg>rated DNA during>gg> the replicative cycle. Activation of HIV-1 g>gg>ene expression by the transactivator Tat is dependent on an RNA reg>gg>ulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this g>gg>ene binds between the bulg>gg>e and the loop of the HIV-1 TAR RNA reg>gg>ulatory element and activates HIV-1 g>gg>ene expression in synerg>gg>y with the viral Tat protein. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. This g>gg>ene also has a pseudog>gg>ene. [provided by RefSeq, Jul 2008]

TARBP1 Gene

TAR (HIV-1) RNA binding>gg> protein 1

HIV-1, the causative ag>gg>ent of acquired immunodeficiency syndrome (AIDS), contains an RNA g>gg>enome that produces a chromosomally integ>gg>rated DNA during>gg> the replicative cycle. Activation of HIV-1 g>gg>ene expression by the transactivator Tat is dependent on an RNA reg>gg>ulatory element (TAR) located downstream of the transcription initiation site. This element forms a stable stem-loop structure and can be bound by either the protein encoded by this g>gg>ene or by RNA polymerase II. This protein may act to diseng>gg>ag>gg>e RNA polymerase II from TAR during>gg> transcriptional elong>gg>ation. Alternatively spliced transcripts of this g>gg>ene may exist, but their full-leng>gg>th natures have not been determined. [provided by RefSeq, Jul 2008]

PPP2R4 Gene

protein phosphatase 2A activator, reg>gg>ulatory subunit 4

Protein phosphatase 2A is one of the four major Ser/Thr phosphatases and is implicated in the neg>gg>ative control of cell g>gg>rowth and division. Protein phosphatase 2A holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a reg>gg>ulatory subunit B. The reg>gg>ulatory subunit is encoded by a diverse set of g>gg>enes that have been g>gg>rouped into the B/PR55, B'/PR61, and B''/PR72 families. These different reg>gg>ulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this g>gg>ene belong>gg>s to the B' family. This g>gg>ene encodes a specific phosphotyrosyl phosphatase activator of the dimeric form of protein phosphatase 2A. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Jul 2008]

LOC113230 Gene

uncharacterized protein LOC113230

LOC100128121 Gene

60S ribosomal protein L9 pseudog>gg>ene

LOC100128122 Gene

Cbl proto-oncog>gg>ene-like 1, E3 ubiquitin protein lig>gg>ase pseudog>gg>ene

LINC00229 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 229

LINC00226 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 226

LINC00221 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 221

LINC00222 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 222

RPL9P3 Gene

ribosomal protein L9 pseudog>gg>ene 3

PCS Gene

Parotid proline-rich salivary protein Pc

RSU1P1 Gene

Ras suppressor protein 1 pseudog>gg>ene 1

RSU1P2 Gene

Ras suppressor protein 1 pseudog>gg>ene 2

TYRO3 Gene

TYRO3 protein tyrosine kinase

The g>gg>ene is part of a 3-member transmembrane g>receptorg> kinase g>receptorg> family with a processed pseudog>gg>ene distal on chromosome 15. The encoded protein is activated by the products of the g>gg>rowth arrest-specific g>gg>ene 6 and protein S g>gg>enes and is involved in controlling>gg> cell survival and proliferation, spermatog>gg>enesis, immunoreg>gg>ulation and phag>gg>ocytosis. The encoded protein has also been identified as a cell entry factor for Ebola and Marburg>gg> viruses. [provided by RefSeq, May 2010]

ZNF382 Gene

zinc fing>gg>er protein 382

This g>gg>ene encodes a KRAB domain zinc fing>gg>er transcription factor (KZNF). KZNFs play critical roles in the reg>gg>ulation of many cellular processes including>gg> differentiation, proliferation and apoptosis. The encoded protein inhibits activating>gg> protein 1 (AP-1) and nuclear factor kappa-B (NF-kB) sig>gg>naling>gg> and may function as a tumor suppressor in multiple carcinomas. This g>gg>ene is found in a cluster with other zinc fing>gg>er protein g>gg>enes on the long>gg> arm of chromosome 19, and alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Feb 2012]

ZNF823 Gene

zinc fing>gg>er protein 823

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00917 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 917

LINC00911 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 911

LINC00910 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 910

PHF5g>Gg>P Gene

PHD fing>gg>er protein 5g>Gg> pseudog>gg>ene

RPLP1P1 Gene

ribosomal protein, larg>gg>e, P1 pseudog>gg>ene 1

RPLP1P3 Gene

ribosomal protein, larg>gg>e, P1 pseudog>gg>ene 3

RPLP1P4 Gene

ribosomal protein, larg>gg>e, P1 pseudog>gg>ene 4

RPLP1P5 Gene

ribosomal protein, larg>gg>e, P1 pseudog>gg>ene 5

RPLP1P7 Gene

ribosomal protein, larg>gg>e, P1 pseudog>gg>ene 7

RPLP1P8 Gene

ribosomal protein, larg>gg>e, P1 pseudog>gg>ene 8

RPLP1P9 Gene

ribosomal protein, larg>gg>e, P1 pseudog>gg>ene 9

ALOX5AP Gene

arachidonate 5-lipoxyg>gg>enase-activating>gg> protein

This g>gg>ene encodes a protein which, with 5-lipoxyg>gg>enase, is required for leukotriene synthesis. Leukotrienes are arachidonic acid metabolites which have been implicated in various types of inflammatory responses, including>gg> asthma, arthritis and psoriasis. This protein localizes to the plasma membrane. Inhibitors of its function impede translocation of 5-lipoxyg>gg>enase from the cytoplasm to the cell membrane and inhibit 5-lipoxyg>gg>enase activation. Alternatively spliced transcript variants encoding>gg> different isoforms have been identified for this g>gg>ene. [provided by RefSeq, Feb 2011]

LINC01515 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1515

RPL31P47 Gene

ribosomal protein L31 pseudog>gg>ene 47

LOC100419913 Gene

zinc fing>gg>er protein 678 pseudog>gg>ene

TMEM55A Gene

transmembrane protein 55A

TMEM55A catalyzes the deg>gg>radation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing>gg> the 4-phosphate (Ung>gg>ewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM, Mar 2008]

TMEM55B Gene

transmembrane protein 55B

TMEM55B catalyzes the deg>gg>radation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing>gg> the 4-phosphate (Ung>gg>ewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM, Mar 2008]

LOC102724828 Gene

39S ribosomal protein L23, mitochondrial-like

RPL12P16 Gene

ribosomal protein L12 pseudog>gg>ene 16

RPL12P17 Gene

ribosomal protein L12 pseudog>gg>ene 17

RPL12P14 Gene

ribosomal protein L12 pseudog>gg>ene 14

RPL12P15 Gene

ribosomal protein L12 pseudog>gg>ene 15

RPL12P12 Gene

ribosomal protein L12 pseudog>gg>ene 12

RPL12P13 Gene

ribosomal protein L12 pseudog>gg>ene

RPL12P10 Gene

ribosomal protein L12 pseudog>gg>ene 10

RPL12P11 Gene

ribosomal protein L12 pseudog>gg>ene 11

RPL12P18 Gene

ribosomal protein L12 pseudog>gg>ene 18

RPL12P19 Gene

ribosomal protein L12 pseudog>gg>ene 19

LOC440353 Gene

nuclear pore complex interacting>gg> protein family, member A1 pseudog>gg>ene

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF702P Gene

zinc fing>gg>er protein 702, pseudog>gg>ene

Predicted to enable DNA-binding>gg> transcription factor activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100507379 Gene

RNA binding>gg> motif protein 4 pseudog>gg>ene

LOC105372373 Gene

zinc fing>gg>er protein 772

TULP2 Gene

tubby like protein 2

TULP2 is a member of a family of tubby-like g>gg>enes (TULPs) that encode proteins of unknown function. Members of this family have been identified in plants, vertebrates, and invertebrates. The TULP proteins share a conserved C-terminal reg>gg>ion of approximately 200 amino acid residues. [provided by RefSeq, Jul 2008]

TULP3 Gene

tubby like protein 3

This g>gg>ene encodes a member of the tubby g>gg>ene family of bipartite transcription factors. Members of this family have been identified in plants, vertebrates, and invertebrates, and they share a conserved N-terminal transcription activation reg>gg>ion and a conserved C-terminal DNA and phosphatidylinositol-phosphate binding>gg> reg>gg>ion. The encoded protein binds to phosphoinositides in the plasma membrane via its C-terminal reg>gg>ion and probably functions as a membrane-bound transcription reg>gg>ulator that translocates to the nucleus in response to phosphoinositide hydrolysis, for instance, induced by g>Gg>-g>protein-coupledg>-g>receptorg> sig>gg>naling>gg>. It plays an important role in neuronal development and function. Two transcript variants encoding>gg> distinct isoforms have been identified for this g>gg>ene. [provided by RefSeq, May 2009]

TULP1 Gene

tubby like protein 1

This g>gg>ene encodes a member of the tubby-like g>gg>ene family (TULPs). Members of this family have been identified in plants, vertebrates, and invertebrates. TULP proteins share a conserved C-terminal reg>gg>ion of approximately 200 amino acid residues. The protein encoded by this g>gg>ene is thoug>gg>ht to play a role in the physiolog>gg>y of photog>receptorg>s. Mutations in this g>gg>ene are associated with recessive juvenile retinitis pig>gg>mentosa and Leber cong>gg>enital amaurosis-15. [provided by RefSeq, Nov 2016]

TULP4 Gene

tubby like protein 4

Predicted to be involved in protein ubiquitination. Located in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

DISC2 Gene

disrupted in schizophrenia 2 (non-protein coding>gg>)

DISC2 is thoug>gg>ht to specify a noncoding>gg> RNA molecule antisense to DISC1 (MIM 605210). Both g>gg>enes were found to be disrupted by a translocation in a larg>gg>e schizophrenia (MIM 181500) kindred.[supplied by OMIM, Jul 2002]

INCENP Gene

inner centromere protein antig>gg>ens 135/155kDa

In mammalian cells, 2 broad g>gg>roups of centromere-interacting>gg> proteins have been described: constitutively binding>gg> centromere proteins and 'passeng>gg>er,' or transiently interacting>gg>, proteins (reviewed by Choo, 1997). The constitutive proteins include CENPA (centromere protein A; MIM 117139), CENPB (MIM 117140), CENPC1 (MIM 117141), and CENPD (MIM 117142). The term 'passeng>gg>er proteins' encompasses a broad collection of proteins that localize to the centromere during>gg> specific stag>gg>es of the cell cycle (Earnshaw and Mackay, 1994 [PubMed 8088460]). These include CENPE (MIM 117143); MCAK (MIM 604538); KID (MIM 603213); cytoplasmic dynein (e.g>gg>., MIM 600112); CliPs (e.g>gg>., MIM 179838); and CENPF/mitosin (MIM 600236). The inner centromere proteins (INCENPs) (Earnshaw and Cooke, 1991 [PubMed 1860899]), the initial members of the passeng>gg>er protein g>gg>roup, display a broad localization along>gg> chromosomes in the early stag>gg>es of mitosis but g>gg>radually become concentrated at centromeres as the cell cycle prog>gg>resses into mid-metaphase. During>gg> telophase, the proteins are located within the midbody in the intercellular bridg>gg>e, where they are discarded after cytokinesis (Cutts et al., 1999 [PubMed 10369859]).[supplied by OMIM, Mar 2008]

LOC105375800 Gene

UPF0454 protein C12orf49 pseudog>gg>ene

SKP1 Gene

S-phase kinase-associated protein 1

This g>gg>ene encodes a component of SCF complexes, which are composed of this protein, cullin 1, a ring>gg>-box protein, and one member of the F-box family of proteins. This protein binds directly to the F-box motif found in F-box proteins. SCF complexes are involved in the reg>gg>ulated ubiquitination of specific protein substrates, which targ>gg>ets them for deg>gg>radation by the proteosome. Specific F-box proteins recog>gg>nize different targ>gg>et protein(s), and many specific SCF substrates have been identified including>gg> reg>gg>ulators of cell cycle prog>gg>ression and development. Studies have also characterized the protein as an RNA polymerase II elong>gg>ation factor. Alternative splicing>gg> of this g>gg>ene results in two transcript variants. A related pseudog>gg>ene has been identified on chromosome 7. [provided by RefSeq, Jul 2008]

LOC100418514 Gene

ribosomal protein SA pseudog>gg>ene

IFI16 Gene

interferon, g>gg>amma-inducible protein 16

This g>gg>ene encodes a member of the HIN-200 (hematopoietic interferon-inducible nuclear antig>gg>ens with 200 amino acid repeats) family of cytokines. The encoded protein contains domains involved in DNA binding>gg>, transcriptional reg>gg>ulation, and protein-protein interactions. The protein localizes to the nucleoplasm and nucleoli, and interacts with p53 and retinoblastoma-1. It modulates p53 function, and inhibits cell g>gg>rowth in the Ras/Raf sig>gg>naling>gg> pathway. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Apr 2011]

RPS16P10 Gene

ribosomal protein S16 pseudog>gg>ene 10

HADHAP1 Gene

hydroxyacyl-CoA dehydrog>gg>enase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit pseudog>gg>ene 1

LOC729800 Gene

ZP domain-containing>gg> protein LOC729800-like

LRRFIP1 Gene

leucine rich repeat (in FLII) interacting>gg> protein 1

Enables DNA-binding>gg> transcription repressor activity, RNA polymerase II-specific; RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity; and protein homodimerization activity. Involved in neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II. Located in cytosol and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LRRFIP2 Gene

leucine rich repeat (in FLII) interacting>gg> protein 2

The protein encoded by this g>gg>ene, along>gg> with MYD88, binds to the cytosolic tail of toll-like g>receptorg> 4 (TLR4), which results in activation of nuclear factor kappa B sig>gg>naling>gg>. The ubiquitin-like protein FAT10 prevents the interaction of the encoded protein and TLR4, thereby inactivating>gg> the nuclear factor kappa B sig>gg>naling>gg> pathway. In addition, this protein can downreg>gg>ulate the NLRP3 inflammasome by recruiting>gg> the caspase-1 inhibitor Flig>gg>htless-I to the inflammasome complex. [provided by RefSeq, Jan 2017]

TFIP11 Gene

tuftelin interacting>gg> protein 11

This g>gg>ene encodes a protein component of the spliceosome that promotes the release of the lariat-intron during>gg> late-stag>gg>e splicing>gg> throug>gg>h the recruitment of a pre-mRNA splicing>gg> factor called DEAH-box helicase 15. The encoded protein contains a g>Gg>-patch domain, a hallmark of RNA-processing>gg> proteins, that binds DEAH-box helicase 15. This protein contains an atypical nuclear localization sequence as well as a nuclear speckle-targ>gg>eting>gg> sequence, enabling>gg> it to localize to distinct speckled reg>gg>ions within the cell nucleus. Polymorphisms in this g>gg>ene are associated with dental caries sug>gg>g>gg>esting>gg> a role in amelog>gg>enesis. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Nov 2016]

RPL6P6 Gene

ribosomal protein L6 pseudog>gg>ene 6

ST13P9 Gene

suppression of tumorig>gg>enicity 13 (colon carcinoma) (Hsp70 interacting>gg> protein) pseudog>gg>ene 9

ST13P8 Gene

suppression of tumorig>gg>enicity 13 (colon carcinoma) (Hsp70 interacting>gg> protein) pseudog>gg>ene 8

ST13P7 Gene

suppression of tumorig>gg>enicity 13 (colon carcinoma) (Hsp70 interacting>gg> protein) pseudog>gg>ene 7

ST13P6 Gene

suppression of tumorig>gg>enicity 13 (colon carcinoma) (Hsp70 interacting>gg> protein) pseudog>gg>ene 6

ST13P5 Gene

suppression of tumorig>gg>enicity 13 (colon carcinoma) (Hsp70 interacting>gg> protein) pseudog>gg>ene 5

Predicted to enable protein dimerization activity. Predicted to be located in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ST13P4 Gene

suppression of tumorig>gg>enicity 13 (colon carcinoma) (Hsp70 interacting>gg> protein) pseudog>gg>ene 4

Predicted to enable protein dimerization activity. Located in extracellular exosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ST13P3 Gene

suppression of tumorig>gg>enicity 13 (colon carcinoma) (Hsp70 interacting>gg> protein) pseudog>gg>ene 3

ST13P2 Gene

suppression of tumorig>gg>enicity 13 (colon carcinoma) (Hsp70 interacting>gg> protein) pseudog>gg>ene 2

ST13P1 Gene

suppression of tumorig>gg>enicity 13 (colon carcinoma) (Hsp70 interacting>gg> protein) pseudog>gg>ene 1

PRO0611 Gene

PRO0611 protein

LOC101929091 Gene

enoyl-CoA hydratase domain-containing>gg> protein 2, mitochondrial pseudog>gg>ene

SPRNP1 Gene

shadow of prion protein homolog>gg> (zebrafish) pseudog>gg>ene 1

RPL9P31 Gene

ribosomal protein L9 pseudog>gg>ene 31

RPL9P30 Gene

ribosomal protein L9 pseudog>gg>ene 30

RPL17P1 Gene

ribosomal protein L17 pseudog>gg>ene 1

RPL17P3 Gene

ribosomal protein L17 pseudog>gg>ene 3

RPL17P2 Gene

ribosomal protein L17 pseudog>gg>ene 2

RPL17P5 Gene

ribosomal protein L17 pseudog>gg>ene 5

RPL17P4 Gene

ribosomal protein L17 pseudog>gg>ene 4

RPL17P7 Gene

ribosomal protein L17 pseudog>gg>ene 7

ERP27 Gene

endoplasmic reticulum protein 27

This g>gg>ene encodes a noncatalytic member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. The canonical protein has an N-terminal sig>gg>nal sequence, two thioredoxin (TRX)-like domains and a C-terminal ER-retention sequence. Alternative splicing>gg> results in multiple transcript variants encoding>gg> distinct isoforms; some of which lack domains present in the canonical protein. [provided by RefSeq, Dec 2016]

HMP19 Gene

HMP19 protein

Predicted to enable clathrin lig>gg>ht chain binding>gg> activity. Predicted to be involved in clathrin coat assembly and endosomal transport. Located in g>Gg>olg>gg>i apparatus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ERP29 Gene

endoplasmic reticulum protein 29

This g>gg>ene encodes a protein which localizes to the lumen of the endoplasmic reticulum (ER). It is a member of the protein disulfide isomerase (PDI) protein family but lacks an active thioredoxin motif, sug>gg>g>gg>esting>gg> that this protein does not function as a disulfide isomerase. The canonical protein dimerizes and is thoug>gg>ht to play a role in the processing>gg> of secretory proteins within the ER. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Dec 2016]

RPL4P1 Gene

ribosomal protein L4 pseudog>gg>ene 1

RPL4P2 Gene

ribosomal protein L4 pseudog>gg>ene 2

RPL4P3 Gene

ribosomal protein L4 pseudog>gg>ene 3

RPL4P4 Gene

ribosomal protein L4 pseudog>gg>ene 4

RPL4P5 Gene

ribosomal protein L4 pseudog>gg>ene 5

RPL4P6 Gene

ribosomal protein L4 pseudog>gg>ene 6

HSPA8P14 Gene

heat shock 70kDa protein 8 pseudog>gg>ene 14

HSPA8P11 Gene

heat shock 70kDa protein 8 pseudog>gg>ene 11

CHMP4BP1 Gene

charg>gg>ed multivesicular body protein 4B pseudog>gg>ene 1

Predicted to be involved in late endosome to vacuole transport via multivesicular body sorting>gg> pathway and vesicle budding>gg> from membrane. Predicted to be located in several cellular components, including>gg> bounding>gg> membrane of org>gg>anelle; kinetochore microtubule; and midbody. Predicted to be part of ESCRT III complex. Predicted to be active in cytoplasmic side of plasma membrane and multivesicular body. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

HSPA8P12 Gene

heat shock 70kDa protein 8 pseudog>gg>ene 12

HSPA8P19 Gene

heat shock 70kDa protein 8 pseudog>gg>ene 19

RPL23AP56 Gene

ribosomal protein L23a pseudog>gg>ene 56

LOC100294316 Gene

protein FAM136A-like

RPL7P22 Gene

ribosomal protein L7 pseudog>gg>ene 22

RPL7P23 Gene

ribosomal protein L7 pseudog>gg>ene 23

RPL7P20 Gene

ribosomal protein L7 pseudog>gg>ene 20

RPL7P21 Gene

ribosomal protein L7 pseudog>gg>ene 21

RPL7P27 Gene

ribosomal protein L7 pseudog>gg>ene 27

RPL7P24 Gene

ribosomal protein L7 pseudog>gg>ene 24

RPL7P25 Gene

ribosomal protein L7 pseudog>gg>ene 25

RPL7P28 Gene

ribosomal protein L7 pseudog>gg>ene 28

RPL7P29 Gene

ribosomal protein L7 pseudog>gg>ene 29

RPS21P5 Gene

ribosomal protein S21 pseudog>gg>ene 5

RPS21P6 Gene

ribosomal protein S21 pseudog>gg>ene 6

RPS21P1 Gene

ribosomal protein S21 pseudog>gg>ene 1

RPS21P3 Gene

ribosomal protein S21 pseudog>gg>ene 3

RPS21P2 Gene

ribosomal protein S21 pseudog>gg>ene 2

RPS21P8 Gene

ribosomal protein S21 pseudog>gg>ene 8

MRPS6P2 Gene

mitochondrial ribosomal protein S6 pseudog>gg>ene 2

MRPS6P1 Gene

mitochondrial ribosomal protein S6 pseudog>gg>ene 1

MRPS6P4 Gene

mitochondrial ribosomal protein S6 pseudog>gg>ene 4

LOC100421336 Gene

RAB3A interacting>gg> protein (rabin3)-like 1 pseudog>gg>ene

PSORS1C3 Gene

psoriasis susceptibility 1 candidate 3 (non-protein coding>gg>)

ZNF215 Gene

zinc fing>gg>er protein 215

This g>gg>ene is imprinted in a tissue-specific manner with preferential expression in the testis, and encodes a zinc fing>gg>er protein that belong>gg>s to a family of zinc fing>gg>er transcription factors. The encoded protein contains an N-terminal SRE-ZBP, Ctfin51, AW-1, and Number 18 (SCAN) domain, a kruppel-associated box A (KRABA) domain, and four C-terminal zinc fing>gg>er domains. This g>gg>ene is located within one of three reg>gg>ions on chromosome 11p15 associated with Beckwith-Wiedemann syndrome, called Beckwith-Wiedemann syndrome chromosome reg>gg>ion-2 (BWSCR2), and is thoug>gg>ht to play a role in the etiolog>gg>y of this disease. [provided by RefSeq, Aug>gg> 2017]

ZNF214 Gene

zinc fing>gg>er protein 214

This g>gg>ene is expressed predominantly in the testis and encodes a zinc fing>gg>er protein that contains an N-terminal kruppel-associated box A (KRABA) domain and twelve zinc fing>gg>er domains. This g>gg>ene is located within one of three reg>gg>ions on chromosome 11p15 associated with Beckwith-Wiedemann syndrome, called Beckwith-Wiedemann syndrome chromosome reg>gg>ion-2 (BWSCR2), and is thoug>gg>ht to play a role in the etiolog>gg>y of this disease. [provided by RefSeq, Aug>gg> 2017]

ZNF217 Gene

zinc fing>gg>er protein 217

Enables DNA-binding>gg> transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II. Located in mitochondrion and nuclear speck. Part of histone deacetylase complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF211 Gene

zinc fing>gg>er protein 211

This g>gg>ene encodes a protein containing>gg> a Kruppel-associated box domain and multiple zinc fing>gg>er domains. This protein may play a role in developmental processes. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Mar 2014]

ZNF212 Gene

zinc fing>gg>er protein 212

This g>gg>ene belong>gg>s to the C2H2-type zinc fing>gg>er g>gg>ene family. The zinc fing>gg>er proteins are involved in g>gg>ene reg>gg>ulation and development, and are quite conserved throug>gg>hout evolution. Like this g>gg>ene product, a third of the zinc fing>gg>er proteins containing>gg> C2H2 fing>gg>ers also contain the KRAB domain, which has been found to be involved in protein-protein interactions. [provided by RefSeq, Jul 2008]

PHF21B Gene

PHD fing>gg>er protein 21B

Predicted to enable metal ion binding>gg> activity. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC101928908 Gene

60S ribosomal protein L31-like

DKFZP586I1420 Gene

uncharacterized protein DKFZp586I1420

AMER2 Gene

APC membrane recruitment protein 2

Enables phosphatidylinositol-4,5-bisphosphate binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of canonical Wnt sig>gg>naling>gg> pathway. Located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

AMER3 Gene

APC membrane recruitment protein 3

Predicted to enable beta-catenin binding>gg> activity and phosphatidylinositol-4,5-bisphosphate binding>gg> activity. Predicted to be involved in reg>gg>ulation of canonical Wnt sig>gg>naling>gg> pathway. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS23P2 Gene

ribosomal protein S23 pseudog>gg>ene 2

LINC01349 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1349

LINC01344 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1344

LINC01347 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1347

LINC01346 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1346

LINC01341 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1341

LINC01340 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1340

LINC01343 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1343

LINC01342 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1342

g>Gg>ABPB2 Gene

g>Gg>A binding>gg> protein transcription factor, beta subunit 2

Enables transcription cis-reg>gg>ulatory reg>gg>ion binding>gg> activity. Acts upstream of or within positive reg>gg>ulation of transcription by RNA polymerase II. Located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NIFK Gene

nucleolar protein interacting>gg> with the FHA domain of MKI67

This g>gg>ene encodes a protein that interacts with the forkhead-associated domain of the Ki-67 antig>gg>en. The encoded protein may bind RNA and may play a role in mitosis and cell cycle prog>gg>ression. Multiple pseudog>gg>enes exist on chromosomes 5, 10, 12, 15, and 19.[provided by RefSeq, Jan 2009]

g>Gg>ABPB1 Gene

g>Gg>A binding>gg> protein transcription factor, beta subunit 1

This g>gg>ene encodes the g>Gg>A-binding>gg> protein transcription factor, beta subunit. This protein forms a tetrameric complex with the alpha subunit, and stimulates transcription of targ>gg>et g>gg>enes. The encoded protein may be involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. The crystal structure of a similar protein in mouse has been resolved as a ternary protein complex. Multiple transcript variants encoding>gg> distinct isoforms have been identified for this g>gg>ene. [provided by RefSeq, Jul 2008]

LOC102725210 Gene

veg>gg>etative cell wall protein g>gg>p1-like

TSPY25P Gene

testis specific protein, Y-linked 25, pseudog>gg>ene

LOC102724258 Gene

WAS/WASL-interacting>gg> protein family member 1-like

LOC102723407 Gene

putative V-set and immunog>gg>lobulin domain-containing>gg>-like protein Ig>Gg>HV4OR15-8

FABP5P1 Gene

fatty acid binding>gg> protein 5 pseudog>gg>ene 1

FABP5P3 Gene

fatty acid binding>gg> protein 5 pseudog>gg>ene 3

Predicted to enable fatty acid binding>gg> activity. Predicted to be involved in fatty acid transport. Predicted to be active in cytosol and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FABP5P2 Gene

fatty acid binding>gg> protein 5 pseudog>gg>ene 2

FABP5P5 Gene

fatty acid binding>gg> protein 5 pseudog>gg>ene 5

FABP5P4 Gene

fatty acid binding>gg> protein 5 pseudog>gg>ene 4

FABP5P7 Gene

fatty acid binding>gg> protein 5 pseudog>gg>ene 7

FABP5P6 Gene

fatty acid binding>gg> protein 5 pseudog>gg>ene 6

FABP5P9 Gene

fatty acid binding>gg> protein 5 pseudog>gg>ene 9

FABP5P8 Gene

fatty acid binding>gg> protein 5 pseudog>gg>ene 8

LOC102723400 Gene

C-terminal-binding>gg> protein 2 pseudog>gg>ene

PAPPA Gene

preg>gg>nancy-associated plasma protein A, pappalysin 1

This g>gg>ene encodes a secreted metalloproteinase which cleaves insulin-like g>gg>rowth factor binding>gg> proteins (Ig>Gg>FBPs). Following>gg> Ig>Gg>FBP cleavag>gg>e, insulin g>gg>rowth factors dissociate from Ig>Gg>FBPs and bind to Ig>Gg>F g>receptorg>s, resulting>gg> in activation of the Ig>Gg>F pathway. The encoded protein plays a role in bone formation, inflammation, wound healing>gg> and female fertility. Enhanced expression of this protein is associated with diabetic nephropathy in human patients and this protein may promote tumor invasion and g>gg>rowth in various human cancers. [provided by RefSeq, Aug>gg> 2017]

CEP76 Gene

centrosomal protein 76kDa

This g>gg>ene encodes a centrosomal protein which reg>gg>ulates centriole amplification by limiting>gg> centriole duplication to once per cell cycle. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Dec 2012]

CEP70 Gene

centrosomal protein 70kDa

Enables identical protein binding>gg> activity. Predicted to be involved in cilium assembly. Located in centrosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PRKRA Gene

protein kinase, interferon-inducible double stranded RNA dependent activator

This g>gg>ene encodes a protein kinase activated by double-stranded RNA which mediates the effects of interferon in response to viral infection. Mutations in this g>gg>ene have been associated with dystonia. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Nov 2008]

CEP72 Gene

centrosomal protein 72kDa

The product of this g>gg>ene is a member of the leucine-rich-repeat (LRR) superfamily of proteins. The protein is localized to the centrosome, a non-membraneous org>gg>anelle that functions as the major microtubule-org>gg>anizing>gg> center in animal cells. [provided by RefSeq, Jul 2008]

CEP78 Gene

centrosomal protein 78kDa

This g>gg>ene encodes a centrosomal protein that is both required for the reg>gg>ulation of centrosome-related events during>gg> the cell cycle, and required for ciliog>gg>enesis. The encoded protein has an N-terminal leucine-rich repeat (LRR) domain with six consecutive LRR repeats, and a C-terminal coiled-coil domain. It interacts with the N-terminal catalytic domain of polo-like kinase 4 (PLK4) and colocalizes with PLK4 to the distal end of the centriole. Naturally occurring>gg> mutations in this g>gg>ene cause defects in primary cilia that result in retinal deg>gg>eneration and sensorineural hearing>gg> loss which are associated with cone-rod deg>gg>eneration disease as well as Usher syndrome. Low expression of this g>gg>ene is associated with poor prog>gg>nosis of colorectal cancer patients. [provided by RefSeq, Mar 2017]

MYBPH Gene

myosin binding>gg> protein H

Predicted to be a structural constituent of muscle. Predicted to be involved in sarcomere org>gg>anization. Predicted to be located in myosin filament. Predicted to be active in M band. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100132773 Gene

serine/threonine-protein phosphatase 4 reg>gg>ulatory subunit 2-like

LOC100132057 Gene

phosphodiesterase 4D interacting>gg> protein pseudog>gg>ene

LOC101928870 Gene

classical arabinog>gg>alactan protein 9-like

LINC01264 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1264

LOC729945 Gene

Rho g>Gg>TPase activating>gg> protein 21 pseudog>gg>ene

LOC100996851 Gene

E3 ubiquitin-protein lig>gg>ase XIAP pseudog>gg>ene

NEURL1B Gene

neuralized E3 ubiquitin protein lig>gg>ase 1B

Predicted to enable ubiquitin protein lig>gg>ase activity. Predicted to be involved in ubiquitin-dependent endocytosis. Located in actin cytoskeleton and cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC101060341 Gene

putative uncharacterized protein FLJ46235

RPS12P28 Gene

ribosomal protein S12 pseudog>gg>ene 28

RPS12P29 Gene

ribosomal protein S12 pseudog>gg>ene 29

ROM1 Gene

retinal outer seg>gg>ment membrane protein 1

This g>gg>ene is a member of a photog>receptorg>-specific g>gg>ene family and encodes an integ>gg>ral membrane protein found in the photog>receptorg> disk rim of the eye. This protein can form homodimers or can heterodimerize with another photog>receptorg>, retinal deg>gg>eneration slow (RDS). It is essential for disk morphog>gg>enesis, and may also function as an adhesion molecule involved in the stabilization and compaction of outer seg>gg>ment disks or in the maintenance of the curvature of the rim. Certain defects in this g>gg>ene have been associated with the deg>gg>enerative eye disease retinitis pig>gg>mentosa. [provided by RefSeq, Jul 2008]

RPS12P22 Gene

ribosomal protein S12 pseudog>gg>ene 22

RPS12P23 Gene

ribosomal protein S12 pseudog>gg>ene 23

RPS12P20 Gene

ribosomal protein S12 pseudog>gg>ene 20

RPS12P21 Gene

ribosomal protein S12 pseudog>gg>ene 21

PPEF2 Gene

protein phosphatase, EF-hand calcium binding>gg> domain 2

This g>gg>ene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding>gg> motifs in its C terminus. Althoug>gg>h its substrate(s) is unknown, the encoded protein, which is expressed specifically in photog>receptorg>s and the pineal, has been sug>gg>g>gg>ested to play a role in the visual system. This g>gg>ene shares hig>gg>h sequence similarity with the Drosophila retinal deg>gg>eneration C (rdg>gg>C) g>gg>ene. [provided by RefSeq, Jul 2008]

PPEF1 Gene

protein phosphatase, EF-hand calcium binding>gg> domain 1

This g>gg>ene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding>gg> motifs in its C terminus. Althoug>gg>h its substrate(s) is unknown, the encoded protein has been sug>gg>g>gg>ested to play a role in specific sensory neuron function and/or development. This g>gg>ene shares hig>gg>h sequence similarity with the Drosophila retinal deg>gg>eneration C (rdg>gg>C) g>gg>ene. Several alternatively spliced transcript variants, each encoding>gg> a distinct isoform, have been described. [provided by RefSeq, Jul 2008]

FITM2 Gene

fat storag>gg>e-inducing>gg> transmembrane protein 2

Enables coenzyme A diphosphatase activity. Involved in several processes, including>gg> fatty-acyl-CoA catabolic process; lipid droplet formation; and lipid homeostasis. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be active in endoplasmic reticulum membrane. Implicated in Siddiqi syndrome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FITM1 Gene

fat storag>gg>e-inducing>gg> transmembrane protein 1

Predicted to enable diacylg>gg>lycerol binding>gg> activity and trig>gg>lyceride binding>gg> activity. Predicted to be involved in lipid droplet formation; phospholipid biosynthetic process; and positive reg>gg>ulation of sequestering>gg> of trig>gg>lyceride. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be active in endoplasmic reticulum membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KAZN Gene

kazrin, periplakin interacting>gg> protein

This g>gg>ene encodes a protein that plays a role in desmosome assembly, cell adhesion, cytoskeletal org>gg>anization, and epidermal differentiation. This protein co-localizes with desmoplakin and the cytolinker protein periplakin. In g>gg>eneral, this protein localizes to the nucleus, desmosomes, cell membrane, and cortical actin-based structures. Some isoforms of this protein also associate with microtubules. Alternative splicing>gg> results in multiple transcript variants encoding>gg> distinct isoforms. Additional splice variants have been described but their biolog>gg>ical validity has not been verified. [provided by RefSeq, Aug>gg> 2011]

ASIP Gene

ag>gg>outi sig>gg>naling>gg> protein

In mice, the ag>gg>outi g>gg>ene encodes a paracrine sig>gg>naling>gg> molecule that causes hair follicle melanocytes to synthesize pheomelanin, a yellow pig>gg>ment, instead of the black or brown pig>gg>ment, eumelanin. Pleiotropic effects of constitutive expression of the mouse g>gg>ene include adult-onset obesity, increased tumor susceptibility, and premature infertility. This g>gg>ene is hig>gg>hly similar to the mouse g>gg>ene and encodes a secreted protein that may (1) affect the quality of hair pig>gg>mentation, (2) act as a pharmacolog>gg>ical antag>gg>onist of alpha-melanocyte-stimulating>gg> hormone, (3) play a role in neuroendocrine aspects of melanocortin action, and (4) have a functional role in reg>gg>ulating>gg> lipid metabolism in adipocytes. [provided by RefSeq, Jul 2008]

BRI3P2 Gene

brain protein I3 pseudog>gg>ene 2

BRI3P3 Gene

brain protein I3 pseudog>gg>ene 3

BRI3P1 Gene

brain protein I3 pseudog>gg>ene 1

LOC100420020 Gene

transmembrane protein 55B pseudog>gg>ene

DCSTAMP Gene

dendrocyte expressed seven transmembrane protein

This g>gg>ene encodes a seven-pass transmembrane protein that is primarily expressed in dendritic cells. The encoded protein is involved in a rang>gg>e of immunolog>gg>ical functions carried out by dendritic cells. This protein plays a role in osteoclastog>gg>enesis and myeloid differentiation. Alternate splicing>gg> results in multiple transcript variants. [provided by RefSeq, Mar 2012]

Cg>Gg>g>Gg>BP1 Gene

Cg>Gg>g>Gg> triplet repeat binding>gg> protein 1

This g>gg>ene encodes a Cg>Gg>g>Gg> repeat-binding>gg> protein that primarily localizes to the nucleus. Cg>Gg>g>Gg> trinucleotide repeats are implicated in many disorders as they often act as transcription- and translation-reg>gg>ulatory elements, can produce hairpin structures which cause DNA replication errors, and form reg>gg>ions prone to chromosomal breakag>gg>e. Cg>Gg>g>Gg> repeats are also targ>gg>ets for Cpg>Gg> methylation. In addition to its ability to bind Cg>Gg>g>Gg> repeats and reg>gg>ulate transcription, this g>gg>ene is believed to play a role in DNA damag>gg>e repair and telomere protection. In vitro studies indicate this protein does not bind to methylated Cpg>Gg> sequences. [provided by RefSeq, Jul 2017]

RPL23AP8 Gene

ribosomal protein L23a pseudog>gg>ene 8

RPL23AP1 Gene

ribosomal protein L23a pseudog>gg>ene 1

RPL23AP2 Gene

ribosomal protein L23a pseudog>gg>ene 2

RPL23AP3 Gene

ribosomal protein L23a pseudog>gg>ene 3

RPL23AP4 Gene

ribosomal protein L23a pseudog>gg>ene 4

RPL23AP5 Gene

ribosomal protein L23a pseudog>gg>ene 5

RPL23AP6 Gene

ribosomal protein L23a pseudog>gg>ene 6

RPL23AP7 Gene

ribosomal protein L23a pseudog>gg>ene 7

LOC100420887 Gene

UPF0607 protein ENSP00000381418-like pseudog>gg>ene

LOC101928793 Gene

adhesive plaque matrix protein-like

g>Gg>LTPD2 Gene

g>gg>lycolipid transfer protein domain containing>gg> 2

Predicted to enable ceramide 1-phosphate binding>gg> activity and ceramide 1-phosphate transfer activity. Predicted to be involved in ceramide transport and intermembrane lipid transfer. Predicted to be located in cytoplasm. Predicted to be active in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TSPY11P Gene

testis specific protein, Y-linked 11, pseudog>gg>ene

CSPP1 Gene

centrosome and spindle pole associated protein 1

This g>gg>ene encodes a centrosome and spindle pole associated protein. The encoded protein plays a role in cell-cycle prog>gg>ression and spindle org>gg>anization, reg>gg>ulates cytokinesis, interacts with Nephrocystin 8 and is required for cilia formation. Mutations in this g>gg>ene result in primary cilia abnormalities and classical Joubert syndrome. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been found for this g>gg>ene. [provided by RefSeq, Apr 2014]

LOC100129456 Gene

heat shock protein 90kDa alpha (cytosolic), class B member 1 pseudog>gg>ene

TRAPPC2L Gene

trafficking>gg> protein particle complex 2-like

This g>gg>ene encodes a protein that interacts with the tethering>gg> factor trafficking>gg> protein particle (TRAPP complex). TRAPP complexes mediate the contact between vescicles and targ>gg>et membranes, and thus, are involved in vescicle-mediated transport of proteins and lipids. The encoded protein is related to the X-linked trafficking>gg> protein particle complex 2. A related pseudog>gg>ene is located on the X chromosome. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Jan 2016]

TRAPPC2B Gene

trafficking>gg> protein particle complex 2B

Enables transcription corepressor binding>gg> activity; transcription reg>gg>ulator inhibitor activity; and transmembrane transporter binding>gg> activity. Involved in positive reg>gg>ulation of g>gg>ene expression and skeletal system development. Located in endoplasmic reticulum; nucleus; and perinuclear reg>gg>ion of cytoplasm. Part of TRAPP complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL21P127 Gene

ribosomal protein L21 pseudog>gg>ene 127

Ng>Gg>DN Gene

neurog>gg>uidin, EIF4E binding>gg> protein

Neurog>gg>uidin is an EIF4E (MIM 133440)-binding>gg> protein that interacts with CPEB (MIM 607342) and functions as a translational reg>gg>ulatory protein during>gg> development of the vertebrate nervous system (Jung>gg> et al., 2006 [PubMed 16705177]).[supplied by OMIM, Mar 2008]

IRF2BP2 Gene

interferon reg>gg>ulatory factor 2 binding>gg> protein 2

This g>gg>ene encodes an interferon reg>gg>ulatory factor-2 (IRF2) binding>gg> protein that interacts with the C-terminal transcriptional repression domain of IRF2. Alternative splicing>gg> results in multiple transcript variants encoding>gg> distinct isoforms. [provided by RefSeq, Jul 2008]

IRF2BP1 Gene

interferon reg>gg>ulatory factor 2 binding>gg> protein 1

Enables transcription corepressor activity and ubiquitin protein lig>gg>ase activity. Involved in protein polyubiquitination. Acts upstream of or within neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL21P121 Gene

ribosomal protein L21 pseudog>gg>ene 121

IRF2BPL Gene

interferon reg>gg>ulatory factor 2 binding>gg> protein-like

This g>gg>ene encodes a transcription factor that may play a role in reg>gg>ulating>gg> female reproductive function. [provided by RefSeq, Jun 2012]

RPL9P28 Gene

ribosomal protein L9 pseudog>gg>ene 28

RPL9P29 Gene

ribosomal protein L9 pseudog>gg>ene 29

RPL23AP69 Gene

ribosomal protein L23a pseudog>gg>ene 69

RPL23AP68 Gene

ribosomal protein L23a pseudog>gg>ene 68

RPL23AP63 Gene

ribosomal protein L23a pseudog>gg>ene 63

RPL23AP62 Gene

ribosomal protein L23a pseudog>gg>ene 62

RPL23AP61 Gene

ribosomal protein L23a pseudog>gg>ene 61

RPL23AP60 Gene

ribosomal protein L23a pseudog>gg>ene 60

RPL23AP67 Gene

ribosomal protein L23a pseudog>gg>ene 67

RPL23AP64 Gene

ribosomal protein L23a pseudog>gg>ene 64

LOC728549 Gene

calcium binding>gg> protein P22 pseudog>gg>ene

UHRF1BP1 Gene

UHRF1 binding>gg> protein 1

Enables histone deacetylase binding>gg> activity and identical protein binding>gg> activity. Located in late endosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

UBAP2L Gene

ubiquitin associated protein 2-like

Enables RNA binding>gg> activity. Involved in binding>gg> activity of sperm to zona pellucida; positive reg>gg>ulation of stress g>gg>ranule assembly; and stress g>gg>ranule assembly. Acts upstream of or within hematopoietic stem cell homeostasis. Part of Pcg>Gg> protein complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC728093 Gene

putative POM121-like protein 1-like

LOC100130316 Gene

putative RNA-binding>gg> protein 15

CTNND2 Gene

catenin (cadherin-associated protein), delta 2

This g>gg>ene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. The protein encoded by this g>gg>ene promotes the disruption of E-cadherin based adherens junction to favor cell spreading>gg> upon stimulation by hepatocyte g>gg>rowth factor. This g>gg>ene is overexpressed in prostate adenocarcinomas and is associated with decreased expression of tumor suppressor E-cadherin in this tissue. This g>gg>ene resides in a reg>gg>ion of the short arm of chromosome 5 that is deleted in Cri du Chat syndrome. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Dec 2013]

CTNND1 Gene

catenin (cadherin-associated protein), delta 1

This g>gg>ene encodes a member of the Armadillo protein family, which function in adhesion between cells and sig>gg>nal transduction. Multiple translation initiation codons and alternative splicing>gg> result in many different isoforms being>gg> translated. Not all of the full-leng>gg>th natures of the described transcript variants have been determined. Read-throug>gg>h transcription also exists between this g>gg>ene and the neig>gg>hboring>gg> upstream thioredoxin-related transmembrane protein 2 (TMX2) g>gg>ene. [provided by RefSeq, Dec 2010]

ZNF534 Gene

zinc fing>gg>er protein 534

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF536 Gene

zinc fing>gg>er protein 536

The protein encoded by this g>gg>ene is a hig>gg>hly conserved zinc fing>gg>er protein. The encoded protein is most abundant in brain, where it neg>gg>atively reg>gg>ulates neuronal differentiation. [provided by RefSeq, Sep 2015]

ZNF530 Gene

zinc fing>gg>er protein 530

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF532 Gene

zinc fing>gg>er protein 532

Predicted to enable DNA-binding>gg> transcription factor activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100131041 Gene

FK506 binding>gg> protein 7 pseudog>gg>ene

RPL21P14 Gene

ribosomal protein L21 pseudog>gg>ene 14

NPAS4 Gene

neuronal PAS domain protein 4

NXF is a member of the basic helix-loop-helix-PER (MIM 602260)-ARNT (MIM 126110)-SIM (see SIM2; MIM 600892) (bHLH-PAS) class of transcriptional reg>gg>ulators, which are involved in a wide rang>gg>e of physiolog>gg>ic and developmental events (Ooe et al., 2004 [PubMed 14701734]).[supplied by OMIM, Mar 2008]

NPAS3 Gene

neuronal PAS domain protein 3

This g>gg>ene encodes a member of the basic helix-loop-helix and PAS domain-containing>gg> family of transcription factors. The encoded protein is localized to the nucleus and may reg>gg>ulate g>gg>enes involved in neurog>gg>enesis. Chromosomal abnormalities that affect the coding>gg> potential of this g>gg>ene are associated with schizophrenia and cog>gg>nitive disability. Alternate splicing>gg> results in multiple transcript variants. [provided by RefSeq, Sep 2009]

NPAS2 Gene

neuronal PAS domain protein 2

The protein encoded by this g>gg>ene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. A similar mouse protein may play a reg>gg>ulatory role in the acquisition of specific types of memory. It also may function as a part of a molecular clock operative in the mammalian forebrain. [provided by RefSeq, Jul 2008]

NPAS1 Gene

neuronal PAS domain protein 1

The protein encoded by this g>gg>ene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. Studies of a related mouse g>gg>ene sug>gg>g>gg>est that it functions in neurons. The exact function of this g>gg>ene is unclear, but it may play protective or modulatory roles during>gg> late embryog>gg>enesis and postnatal development. [provided by RefSeq, Jul 2008]

LINC00710 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 710

PURB Gene

purine-rich element binding>gg> protein B

This g>gg>ene product is a sequence-specific, sing>gg>le-stranded DNA-binding>gg> protein. It binds preferentially to the sing>gg>le strand of the purine-rich element termed PUR, which is present at orig>gg>ins of replication and in g>gg>ene flanking>gg> reg>gg>ions in a variety of eukaryotes from yeasts throug>gg>h humans. Thus, it is implicated in the control of both DNA replication and transcription. Deletion of this g>gg>ene has been associated with myelodysplastic syndrome and acute myelog>gg>enous leukemia. [provided by RefSeq, Jul 2008]

PURA Gene

purine-rich element binding>gg> protein A

This g>gg>ene product is a sequence-specific, sing>gg>le-stranded DNA-binding>gg> protein. It binds preferentially to the sing>gg>le strand of the purine-rich element termed PUR, which is present at orig>gg>ins of replication and in g>gg>ene flanking>gg> reg>gg>ions in a variety of eukaryotes from yeasts throug>gg>h humans. Thus, it is implicated in the control of both DNA replication and transcription. Deletion of this g>gg>ene has been associated with myelodysplastic syndrome and acute myelog>gg>enous leukemia. [provided by RefSeq, Jul 2008]

PURg>Gg> Gene

purine-rich element binding>gg> protein g>Gg>

The exact function of this g>gg>ene is not known, however, its encoded product is hig>gg>hly similar to purine-rich element binding>gg> protein A. The latter is a DNA-binding>gg> protein which binds preferentially to the sing>gg>le strand of the purine-rich element termed PUR, and has been implicated in the control of both DNA replication and transcription. This g>gg>ene lies in close proximity to the Werner syndrome g>gg>ene, but on the opposite strand, on chromosome 8p11. [provided by RefSeq, Apr 2016]

RAB11FIP1P1 Gene

RAB11 family interacting>gg> protein 1 (class I) pseudog>gg>ene 1

LOC105374567 Gene

proline-rich protein 2-like

Ig>Gg>HMBP2 Gene

immunog>gg>lobulin mu binding>gg> protein 2

This g>gg>ene encodes a helicase superfamily member that binds a specific DNA sequence from the immunog>gg>lobulin mu chain switch reg>gg>ion. Mutations in this g>gg>ene lead to spinal muscle atrophy with respiratory distress type 1. [provided by RefSeq, Jul 2008]

KRTAP10-8 Gene

keratin associated protein 10-8

Enables identical protein binding>gg> activity. Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP10-5 Gene

keratin associated protein 10-5

This is an intronless g>gg>ene located in a cluster of related g>gg>enes on the q arm of chromosome 21. The proteins encoded by these g>gg>enes form disulfide bonds with cysteine residues in hair keratins, thereby contributing>gg> to the structure and stability of hair fibers. [provided by RefSeq, Apr 2014]

KRTAP10-4 Gene

keratin associated protein 10-4

This is an intronless g>gg>ene located in a cluster of related g>gg>enes on the q arm of chromosome 21. The proteins encoded by these g>gg>enes form disulfide bonds with cysteine residues in hair keratins, thereby contributing>gg> to the structure and stability of hair fibers. [provided by RefSeq, Apr 2014]

LOC102724428 Gene

serine/threonine-protein kinase SIK1

LOC643015 Gene

nucleolar protein 11 pseudog>gg>ene

CDY12P Gene

chromodomain protein, Y-linked 12 pseudog>gg>ene

RNF220 Gene

ring>gg> fing>gg>er protein 220

Enables beta-catenin binding>gg> activity. Involved in positive reg>gg>ulation of canonical Wnt sig>gg>naling>gg> pathway. Acts upstream of or within positive reg>gg>ulation of DNA-binding>gg> transcription factor activity and protein monoubiquitination. Located in nuclear lamina. Part of protein-containing>gg> complex. Implicated in hypomyelinating>gg> leukodystrophy 23. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RNF222 Gene

ring>gg> fing>gg>er protein 222

Predicted to enable metal ion binding>gg> activity. Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RNF223 Gene

ring>gg> fing>gg>er protein 223

Predicted to enable ubiquitin protein lig>gg>ase activity. Predicted to be involved in protein ubiquitination. Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RNF224 Gene

ring>gg> fing>gg>er protein 224

Predicted to enable metal ion binding>gg> activity. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100128540 Gene

TAR DNA-binding>gg> protein 43-like

LOC100128548 Gene

ribosomal protein L17 pseudog>gg>ene

HECW1 Gene

HECT, C2 and WW domain containing>gg> E3 ubiquitin protein lig>gg>ase 1

Predicted to enable ubiquitin protein lig>gg>ase activity. Predicted to be involved in reg>gg>ulation of dendrite morphog>gg>enesis and ubiquitin-dependent protein catabolic process. Predicted to be located in cytosol. Predicted to be active in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

HECW2 Gene

HECT, C2 and WW domain containing>gg> E3 ubiquitin protein lig>gg>ase 2

This g>gg>ene encodes a member of a family of E3 ubiquitin lig>gg>ases which plays an important role in the proliferation, mig>gg>ration and differentiation of neural crest cells as a reg>gg>ulator of g>gg>lial cell line-derived neurotrophic factor (g>Gg>DNF)/Ret sig>gg>naling>gg>. This g>gg>ene also plays an important role in ang>gg>iog>gg>enesis throug>gg>h stabilization of endothelial cell-to-cell junctions as a reg>gg>ulator of ang>gg>iomotin-like 1 stability. The encoded protein contains an N-terminal calcium/lipid-binding>gg> (C2) domain involved in membrane targ>gg>eting>gg>, two-four WW domains responsible for cellular localization and substrate recog>gg>nition, and a C-terminal homolog>gg>ous with E6-associated protein C-terminus (HECT) catalytic domain. Naturally occurring>gg> mutations in this g>gg>ene are associated with neurodevelopmental delay, hypotonia, and epilepsy. The decreased expression of this g>gg>ene in the ag>gg>ang>gg>lionic colon is associated with Hirschsprung>gg>'s disease. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Feb 2017]

CASC7 Gene

cancer susceptibility candidate 7 (non-protein coding>gg>)

LINC00498 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 498

LINC00499 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 499

CASC9 Gene

cancer susceptibility candidate 9 (non-protein coding>gg>)

ARL2BPP9 Gene

ADP-ribosylation factor-like 2 binding>gg> protein pseudog>gg>ene 9

ARL2BPP8 Gene

ADP-ribosylation factor-like 2 binding>gg> protein pseudog>gg>ene 8

HSP90AB2P Gene

heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudog>gg>ene

Predicted to enable ATP binding>gg> activity; ATP hydrolysis activity; and unfolded protein binding>gg> activity. Predicted to be involved in cellular response to heat; protein folding>gg>; and protein stabilization. Located in extracellular exosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ARL2BPP4 Gene

ADP-ribosylation factor-like 2 binding>gg> protein pseudog>gg>ene 4

ARL2BPP7 Gene

ADP-ribosylation factor-like 2 binding>gg> protein pseudog>gg>ene 7

ARL2BPP6 Gene

ADP-ribosylation factor-like 2 binding>gg> protein pseudog>gg>ene 6

ARL2BPP1 Gene

ADP-ribosylation factor-like 2 binding>gg> protein pseudog>gg>ene 1

ARL2BPP3 Gene

ADP-ribosylation factor-like 2 binding>gg> protein pseudog>gg>ene 3

LOC100216346 Gene

ADP-ribosylation factor-like 6 interacting>gg> protein 6 pseudog>gg>ene

LOC101929206 Gene

zinc fing>gg>er protein 708-like

LOC101929203 Gene

RINg>Gg> fing>gg>er and transmembrane domain-containing>gg> protein 1-like

DAZAP1 Gene

DAZ associated protein 1

In mammals, the Y chromosome directs the development of the testes and plays an important role in spermatog>gg>enesis. A hig>gg>h percentag>gg>e of infertile men have deletions that map to reg>gg>ions of the Y chromosome. The DAZ (deleted in azoospermia) g>gg>ene cluster maps to the AZFc reg>gg>ion of the Y chromosome and is deleted in many azoospermic and severely olig>gg>ospermic men. It is thoug>gg>ht that the DAZ g>gg>ene cluster arose from the transposition, amplification, and pruning>gg> of the ancestral autosomal g>gg>ene DAZL also involved in g>gg>erm cell development and g>gg>ametog>gg>enesis. This g>gg>ene encodes a RNA-binding>gg> protein with two RNP motifs that was orig>gg>inally identified by its interaction with the infertility factors DAZ and DAZL. Two isoforms are encoded by transcript variants of this g>gg>ene. [provided by RefSeq, Jul 2008]

DAZAP2 Gene

DAZ associated protein 2

This g>gg>ene encodes a proline-rich protein which interacts with the deleted in azoospermia (DAZ) and the deleted in azoospermia-like g>gg>ene throug>gg>h the DAZ-like repeats. This protein also interacts with the transforming>gg> g>gg>rowth factor-beta sig>gg>naling>gg> molecule SARA (Smad anchor for g>receptorg> activation), eukaryotic initiation factor 4g>Gg>, and an E3 ubiquitinase that reg>gg>ulates its stability in splicing>gg> factor containing>gg> nuclear speckles. The encoded protein may function in various biolog>gg>ical and patholog>gg>ical processes including>gg> spermatog>gg>enesis, cell sig>gg>naling>gg> and transcription reg>gg>ulation, formation of stress g>gg>ranules during>gg> translation arrest, RNA splicing>gg>, and pathog>gg>enesis of multiple myeloma. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Oct 2008]

RPL14P2 Gene

ribosomal protein L14 pseudog>gg>ene 2

LOC390306 Gene

ribosomal protein L7a pseudog>gg>ene

LOC100132571 Gene

short coiled-coil protein pseudog>gg>ene

LOC646853 Gene

non-histone chromosomal protein HMg>Gg>-17 pseudog>gg>ene

ID2B Gene

inhibitor of DNA binding>gg> 2B, dominant neg>gg>ative helix-loop-helix protein (pseudog>gg>ene)

LOC101929970 Gene

CHRNA7-FAM7A fusion protein

LOC100421074 Gene

ZFP14 zinc fing>gg>er protein pseudog>gg>ene

LOC105373800 Gene

serine/arg>gg>inine repetitive matrix protein 1-like

g>Gg>EMIN7 Gene

g>gg>em (nuclear org>gg>anelle) associated protein 7

The protein encoded by this g>gg>ene is a component of the core SMN complex, which is required for pre-mRNA splicing>gg> in the nucleus. The encoded protein is found in the nucleoplasm, in nuclear `g>gg>ems` (g>Gg>emini of Cajal bodies), and in the cytoplasm. Three transcript variants encoding>gg> the same protein have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

LOC105375316 Gene

putative uncharacterized protein FLJ44672

LOC105372487 Gene

transformer-2 protein homolog>gg> alpha-like

MRFAP1L1 Gene

Morf4 family associated protein 1-like 1

Enables identical protein binding>gg> activity. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100130176 Gene

transmembrane protein 188 pseudog>gg>ene

AKTIP Gene

AKT interacting>gg> protein

The mouse homolog>gg> of this g>gg>ene produces fused toes and thymic hyperplasia in heterozyg>gg>ous mutant animals while homozyg>gg>ous mutants die in early development. This g>gg>ene may play a role in apoptosis as these morpholog>gg>ical abnormalities are caused by altered patterns of prog>gg>rammed cell death. The protein encoded by this g>gg>ene is similar to the ubiquitin lig>gg>ase domain of other ubiquitin-conjug>gg>ating>gg> enzymes but lacks the conserved cysteine residue that enables those enzymes to conjug>gg>ate ubiquitin to the targ>gg>et protein. This protein interacts directly with serine/threonine kinase protein kinase B (PKB)/Akt and modulates PKB activity by enhancing>gg> the phosphorylation of PKB's reg>gg>ulatory sites. Alternative splicing>gg> results in two transcript variants encoding>gg> the same protein. [provided by RefSeq, Jul 2008]

LOC101927997 Gene

proline-rich protein 23D1-like

PSIP1P2 Gene

PC4 and SFRS1 interacting>gg> protein 1 pseudog>gg>ene 2

PSIP1P1 Gene

PC4 and SFRS1 interacting>gg> protein 1 pseudog>gg>ene 1

XIAP Gene

X-linked inhibitor of apoptosis, E3 ubiquitin protein lig>gg>ase

This g>gg>ene encodes a protein that belong>gg>s to a family of apoptotic suppressor proteins. Members of this family share a conserved motif termed, baculovirus IAP repeat, which is necessary for their anti-apoptotic function. This protein functions throug>gg>h binding>gg> to tumor necrosis factor g>receptorg>-associated factors TRAF1 and TRAF2 and inhibits apoptosis induced by menadione, a potent inducer of free radicals, and interleukin 1-beta converting>gg> enzyme. This protein also inhibits at least two members of the caspase family of cell-death proteases, caspase-3 and caspase-7. Mutations in this g>gg>ene are the cause of X-linked lymphoproliferative syndrome. Alternate splicing>gg> results in multiple transcript variants. Pseudog>gg>enes of this g>gg>ene are found on chromosomes 2 and 11.[provided by RefSeq, Feb 2011]

LOC100130881 Gene

zinc fing>gg>er protein 12 pseudog>gg>ene

RBMY2AP Gene

RNA binding>gg> motif protein, Y-linked, family 2, member A pseudog>gg>ene

ZNF732 Gene

zinc fing>gg>er protein 732

This g>gg>ene encodes a kruppel-associated box-containing>gg> zinc fing>gg>er protein (KRAB-ZFP). The encoded protein contains an N-terminal kruppel-associated box (KRAB) domain and sixteen C-terminal C2H2-type zinc fing>gg>er domains. The KRAB-ZFPs represent the larg>gg>est family of mammalian transcriptional repressors, which function throug>gg>h the recruitment of the nuclear co-factor KRAB-Associated Protein 1 (KAP1), to eng>gg>ag>gg>e histone modifiers and induce heterochromatin formation. [provided by RefSeq, Jul 2017]

ZNF730 Gene

zinc fing>gg>er protein 730

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF736 Gene

zinc fing>gg>er protein 736

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF737 Gene

zinc fing>gg>er protein 737

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF738 Gene

zinc fing>gg>er protein 738

Predicted to enable ubiquitin-protein transferase activity. Predicted to be involved in protein polyubiquitination. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100131680 Gene

52 kDa repressor of the inhibitor of the protein kinase-like

ZNF317P1 Gene

zinc fing>gg>er protein 317 pseudog>gg>ene 1

LOC100419679 Gene

zinc fing>gg>er protein 670 pseudog>gg>ene

LOC100129942 Gene

capping>gg> protein (actin filament) muscle Z-line, alpha 2 pseudog>gg>ene

LOC100129947 Gene

zinc fing>gg>er protein 674 pseudog>gg>ene

FLJ46838 Gene

FLJ46838 protein

LCP1 Gene

lymphocyte cytosolic protein 1 (L-plastin)

Plastins are a family of actin-binding>gg> proteins that are conserved throug>gg>hout eukaryote evolution and expressed in most tissues of hig>gg>her eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as Fimbrin) is a third distinct plastin isoform which is specifically expressed at hig>gg>h levels in the small intestine. The L isoform is expressed only in hemopoietic cell lineag>gg>es, while the T isoform has been found in all other normal cells of solid tissues that have replicative potential (fibroblasts, endothelial cells, epithelial cells, melanocytes, etc.). However, L-plastin has been found in many types of malig>gg>nant human cells of non-hemopoietic orig>gg>in sug>gg>g>gg>esting>gg> that its expression is induced accompanying>gg> tumorig>gg>enesis in solid tissues. [provided by RefSeq, Jul 2008]

LOC100421855 Gene

SCO1 cytochrome c oxidase assembly protein pseudog>gg>ene

RANBP20P Gene

RAN binding>gg> protein 20 pseudog>gg>ene

RPL18P10 Gene

ribosomal protein L18 pseudog>gg>ene 10

RPL18P11 Gene

ribosomal protein L18 pseudog>gg>ene 11

LOC100128086 Gene

APAF1 interacting>gg> protein pseudog>gg>ene

RPS26P3 Gene

ribosomal protein S26 pseudog>gg>ene 3

TMEM86A Gene

transmembrane protein 86A

Enables alkenylg>gg>lycerophosphocholine hydrolase activity. Predicted to be involved in lipid metabolic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM86B Gene

transmembrane protein 86B

Enables D-lysine 5,6-aminomutase activity; alkenylg>gg>lycerophosphocholine hydrolase activity; and identical protein binding>gg> activity. Involved in ether lipid metabolic process. Located in cytoplasm and membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM2 Gene

small integ>gg>ral membrane protein 2

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM1 Gene

small integ>gg>ral membrane protein 1 (Vel blood g>gg>roup)

This g>gg>ene encodes a small, conserved protein that participates in red blood cell formation. The encoded protein is localized to the cell membrane and is the antig>gg>en for the Vel blood g>gg>roup. Alternative splicing>gg> results in different transcript variants that encode the same protein. [provided by RefSeq, Dec 2013]

CEP170 Gene

centrosomal protein 170kDa

The product of this g>gg>ene is a component of the centrosome, a non-membraneous org>gg>anelle that functions as the major microtubule-org>gg>anizing>gg> center in animal cells. During>gg> interphase, the encoded protein localizes to the sub-distal appendag>gg>es of mature centrioles, which are microtubule-based structures thoug>gg>ht to help org>gg>anize centrosomes. During>gg> mitosis, the protein associates with spindle microtubules near the centrosomes. The protein interacts with and is phosphorylated by polo-like kinase 1, and functions in maintaining>gg> microtubule org>gg>anization and cell morpholog>gg>y. The human g>gg>enome contains a putative transcribed pseudog>gg>ene. Several alternatively spliced transcript variants of this g>gg>ene have been found, but the full-leng>gg>th nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

RPL9P32 Gene

ribosomal protein L9 pseudog>gg>ene 32

LINC00997 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 997

LINC00994 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 994

LINC00993 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 993

LINC00992 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 992

LINC00999 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 999

LINC00998 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 998

Involved in neg>gg>ative reg>gg>ulation of type I interferon-mediated sig>gg>naling>gg> pathway. Located in endoplasmic reticulum membrane and mitochondrial membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL19P21 Gene

ribosomal protein L19 pseudog>gg>ene 21

MXD4 Gene

MAX dimerization protein 4

This g>gg>ene is a member of the MAD g>gg>ene family . The MAD g>gg>enes encode basic helix-loop-helix-leucine zipper proteins that heterodimerize with MAX protein, forming>gg> a transcriptional repression complex. The MAD proteins compete for MAX binding>gg> with MYC, which heterodimerizes with MAX forming>gg> a transcriptional activation complex. Studies in rodents sug>gg>g>gg>est that the MAD g>gg>enes are tumor suppressors and contribute to the reg>gg>ulation of cell g>gg>rowth in differentiating>gg> tissues. [provided by RefSeq, Jul 2008]

MXD3 Gene

MAX dimerization protein 3

This g>gg>ene encodes a member of the Myc superfamily of basic helix-loop-helix leucine zipper transcriptional reg>gg>ulators. The encoded protein forms a heterodimer with the cofactor MAX which binds specific E-box DNA motifs in the promoters of targ>gg>et g>gg>enes and reg>gg>ulates their transcription. Disruption of the MAX-MXD3 complex is associated with uncontrolled cell proliferation and tumorig>gg>enesis. Transcript variants of this g>gg>ene encoding>gg> different isoforms have been described.[provided by RefSeq, Dec 2008]

MXD1 Gene

MAX dimerization protein 1

This g>gg>ene encodes a member of the MYC/MAX/MAD network of basic helix-loop-helix leucine zipper transcription factors. The MYC/MAX/MAD transcription factors mediate cellular proliferation, differentiation and apoptosis. The encoded protein antag>gg>onizes MYC-mediated transcriptional activation of targ>gg>et g>gg>enes by competing>gg> for the binding>gg> partner MAX and recruiting>gg> repressor complexes containing>gg> histone deacetylases. Mutations in this g>gg>ene may play a role in acute leukemia, and the encoded protein is a potential tumor suppressor. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Feb 2011]

LOC102723743 Gene

E3 ubiquitin-protein lig>gg>ase RNF12-B-like

LAMP5 Gene

lysosomal-associated membrane protein family, member 5

Predicted to be involved in establishment of protein localization to org>gg>anelle. Located in endoplasmic reticulum-g>Gg>olg>gg>i intermediate compartment membrane; endosome membrane; and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LAMP3 Gene

lysosomal-associated membrane protein 3

Dendritic cells (DCs) are the most potent antig>gg>en-presenting>gg> cells. Immature DCs efficiently capture antig>gg>ens and differentiate into interdig>gg>itating>gg> dendritic cells (IDCs) in lymphoid tissues that induce primary T-cell responses (summary by de Saint-Vis et al., 1998 [PubMed 9768752]).[supplied by OMIM, Dec 2010]

LAMP2 Gene

lysosomal-associated membrane protein 2

The protein encoded by this g>gg>ene is a member of a family of membrane g>gg>lycoproteins. This g>gg>lycoprotein provides selectins with carbohydrate lig>gg>ands. It may play a role in tumor cell metastasis. It may also function in the protection, maintenance, and adhesion of the lysosome. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants encoding>gg> distinct proteins. [provided by RefSeq, Jul 2008]

LAMP1 Gene

lysosomal-associated membrane protein 1

The protein encoded by this g>gg>ene is a member of a family of membrane g>gg>lycoproteins. This g>gg>lycoprotein provides selectins with carbohydrate lig>gg>ands. It may also play a role in tumor cell metastasis. [provided by RefSeq, Jul 2008]

CACYBPP1 Gene

calcyclin binding>gg> protein pseudog>gg>ene 1

RPL7AP71 Gene

ribosomal protein L7a pseudog>gg>ene 71

RPL7AP70 Gene

ribosomal protein L7a pseudog>gg>ene 70

FAM90A12P Gene

Putative protein FAM90A12

FAM90A12 belong>gg>s to subfamily II of the primate-specific FAM90A g>gg>ene family, which orig>gg>inated from multiple duplications and rearrang>gg>ements (Bosch et al., 2007 [PubMed 17684299]). For backg>gg>round information on the FAM90A g>gg>ene family, as well as information on the evolution of FAM90A g>gg>enes, see FAM90A1 (MIM 613041).[supplied by OMIM, Jul 2010]

ZNF69 Gene

zinc fing>gg>er protein 69

Enables identical protein binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF66 Gene

zinc fing>gg>er protein 66

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in membrane and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS2P22 Gene

ribosomal protein S2 pseudog>gg>ene 22

NPAP1P1 Gene

nuclear pore associated protein 1 pseudog>gg>ene 1

NPAP1P3 Gene

nuclear pore associated protein 1 pseudog>gg>ene 3

NPAP1P2 Gene

nuclear pore associated protein 1 pseudog>gg>ene 2

NPAP1P4 Gene

nuclear pore associated protein 1 pseudog>gg>ene 4

NPAP1P6 Gene

nuclear pore associated protein 1 pseudog>gg>ene 6

NPAP1P8 Gene

nuclear pore associated protein 1 pseudog>gg>ene 8

CETP Gene

cholesteryl ester transfer protein, plasma

The protein encoded by this g>gg>ene is found in plasma, where it is involved in the transfer of cholesteryl ester from hig>gg>h density lipoprotein (HDL) to other lipoproteins. Defects in this g>gg>ene are a cause of hyperalphalipoproteinemia 1 (HALP1). Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Oct 2013]

PCNPP3 Gene

PEST containing>gg> nuclear protein pseudog>gg>ene 3

PCNPP1 Gene

PEST containing>gg> nuclear protein pseudog>gg>ene 1

LOC100287477 Gene

zinc fing>gg>er protein 420-like

PCNPP5 Gene

PEST containing>gg> nuclear protein pseudog>gg>ene 5

PCNPP4 Gene

PEST containing>gg> nuclear protein pseudog>gg>ene 4

RPL35AP5 Gene

ribosomal protein L35a pseudog>gg>ene 5

LOC102725051 Gene

ankyrin repeat domain-containing>gg> protein 20A2-like

MRPS11P1 Gene

mitochondrial ribosomal protein S11 pseudog>gg>ene 1

RPS7P9 Gene

ribosomal protein S7 pseudog>gg>ene 9

RPS20P31 Gene

ribosomal protein S20 pseudog>gg>ene 31

LOC105379416 Gene

serine/arg>gg>inine repetitive matrix protein 1-like

LOC105379417 Gene

ankyrin repeat domain-containing>gg> protein 20A2-like

RPS20P34 Gene

ribosomal protein S20 pseudog>gg>ene 34

RPS20P35 Gene

ribosomal protein S20 pseudog>gg>ene 35

RPL7P44 Gene

ribosomal protein L7 pseudog>gg>ene 44

MIS18A Gene

MIS18 kinetochore protein A

Enables identical protein binding>gg> activity. Predicted to be involved in CENP-A containing>gg> chromatin assembly and chromosome seg>gg>reg>gg>ation. Predicted to act upstream of or within pericentric heterochromatin org>gg>anization and protein localization to chromosome, centromeric reg>gg>ion. Located in cytosol and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00508 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 508

PABPC1L Gene

poly(A) binding>gg> protein, cytoplasmic 1-like

This g>gg>ene belong>gg>s to the polyadenylate-binding>gg> protein type-1 family of proteins. Members of this family bind to the polyA tails of mRNAs to reg>gg>ulate mRNA stability and translation. The mouse ortholog>gg> of this g>gg>ene is required for female fertility. In human, expression of a functional protein is reg>gg>ulated by alternative splicing>gg>. The protein-coding>gg> splice variant for this g>gg>ene is abundantly expressed in human oocytes, while a noncoding>gg> splice variant subject to nonsense-mediated decay is the predominant splice variant expressed in somatic tissues. [provided by RefSeq, Aug>gg> 2019]

LINC00502 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 502

LINC00696 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 696

BNIP3L Gene

BCL2/adenovirus E1B 19kDa interacting>gg> protein 3-like

This g>gg>ene encodes a protein that belong>gg>s to the pro-apoptotic subfamily within the Bcl-2 family of proteins. The encoded protein binds to Bcl-2 and possesses the BH3 domain. The protein directly targ>gg>ets mitochondria and causes apoptotic chang>gg>es, including>gg> loss of membrane potential and the release of cytochrome c. [provided by RefSeq, Feb 2015]

LOC101060405 Gene

putative RRN3-like protein RRN3P1

BRI3 Gene

brain protein I3

Enables identical protein binding>gg> activity. Predicted to be located in azurophil g>gg>ranule membrane and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS4XP20 Gene

ribosomal protein S4X pseudog>gg>ene 20

RPS4XP22 Gene

ribosomal protein S4X pseudog>gg>ene 22

LOC100420423 Gene

FK506 binding>gg> protein 8, 38kDa pseudog>gg>ene

PTBP3 Gene

polypyrimidine tract binding>gg> protein 3

The protein encoded by this g>gg>ene binds RNA and is a reg>gg>ulator of cell differentiation. The encoded protein preferentially binds to poly(g>Gg>) and poly(U) sequences in vitro. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Oct 2011]

PTBP2 Gene

polypyrimidine tract binding>gg> protein 2

The protein encoded by this g>gg>ene binds to intronic polypyrimidine clusters in pre-mRNA molecules and is implicated in controlling>gg> the assembly of other splicing>gg>-reg>gg>ulatory proteins. This protein is very similar to the polypyrimidine tract binding>gg> protein (PTB) but most of its isoforms are expressed primarily in the brain. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2014]

PTBP1 Gene

polypyrimidine tract binding>gg> protein 1

This g>gg>ene belong>gg>s to the subfamily of ubiquitously expressed heterog>gg>eneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA-binding>gg> proteins and they complex with heterog>gg>eneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing>gg> and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding>gg> properties. The protein encoded by this g>gg>ene has four repeats of quasi-RNA recog>gg>nition motif (RRM) domains that bind RNAs. This protein binds to the intronic polypyrimidine tracts that requires pre-mRNA splicing>gg> and acts via the protein deg>gg>radation ubiquitin-proteasome pathway. It may also promote the binding>gg> of U2 snRNP to pre-mRNAs. This protein is localized in the nucleoplasm and it is also detected in the perinucleolar structure. Alternatively spliced transcript variants encoding>gg> different isoforms have been described. [provided by RefSeq, Jul 2008]

PRAP1 Gene

proline-rich acidic protein 1

Predicted to enable trig>gg>lyceride binding>gg> activity. Involved in DNA damag>gg>e response, sig>gg>nal transduction by p53 class mediator resulting>gg> in cell cycle arrest; deactivation of mitotic spindle assembly checkpoint; and neg>gg>ative reg>gg>ulation of apoptotic process. Predicted to be located in endoplasmic reticulum and extracellular reg>gg>ion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PPP2CBP1 Gene

protein phosphatase 2, catalytic subunit, beta isozyme pseudog>gg>ene 1

RPS12P3 Gene

ribosomal protein S12 pseudog>gg>ene 3

RPS12P2 Gene

ribosomal protein S12 pseudog>gg>ene 2

RPS12P1 Gene

ribosomal protein S12 pseudog>gg>ene 1

RPS12P7 Gene

ribosomal protein S12 pseudog>gg>ene 7

RPS12P6 Gene

ribosomal protein S12 pseudog>gg>ene 6

RPS12P5 Gene

ribosomal protein S12 pseudog>gg>ene 5

RPS12P4 Gene

ribosomal protein S12 pseudog>gg>ene 4

RPS12P9 Gene

ribosomal protein S12 pseudog>gg>ene 9

RPS12P8 Gene

ribosomal protein S12 pseudog>gg>ene 8

RPL13AP17 Gene

ribosomal protein L13a pseudog>gg>ene 17

RPL13AP19 Gene

ribosomal protein L13a pseudog>gg>ene 19

LOC101929013 Gene

proline-rich protein 23D1-like

SNTN Gene

sentan, cilia apical structure protein

Predicted to enable calcium ion binding>gg> activity and calcium-dependent protein binding>gg> activity. Predicted to be located in cilium. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CECR3 Gene

cat eye syndrome chromosome reg>gg>ion, candidate 3 (non-protein coding>gg>)

SREK1IP1 Gene

SREK1-interacting>gg> protein 1

Predicted to enable nucleic acid binding>gg> activity and zinc ion binding>gg> activity. Predicted to be involved in RNA splicing>gg> and mRNA processing>gg>. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ARL6IP6 Gene

ADP-ribosylation factor-like 6 interacting>gg> protein 6

Predicted to be located in nuclear inner membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ARL6IP5 Gene

ADP-ribosylation factor-like 6 interacting>gg> protein 5

Expression of this g>gg>ene is affected by vitamin A. The encoded protein of this g>gg>ene may be associated with the cytoskeleton. A similar protein in rats may play a role in the reg>gg>ulation of cell differentiation. The rat protein binds and inhibits the cell membrane g>gg>lutamate transporter EAAC1. The expression of the rat g>gg>ene is upreg>gg>ulated by retinoic acid, which results in a specific reduction in EAAC1-mediated g>gg>lutamate transport. [provided by RefSeq, Jul 2008]

ARL6IP4 Gene

ADP-ribosylation factor-like 6 interacting>gg> protein 4

Enables identical protein binding>gg> activity. Predicted to be involved in RNA splicing>gg>. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ARL6IP1 Gene

ADP-ribosylation factor-like 6 interacting>gg> protein 1

This g>gg>ene belong>gg>s to the ARL6ip family and encodes a transmembrane protein that is predominantly localized to intracytoplasmic membranes. It is hig>gg>hly expressed in early myeloid prog>gg>enitor cells and thoug>gg>ht to be involved in protein transport, membrane trafficking>gg>, or cell sig>gg>naling>gg> during>gg> hematopoietic maturation. Mutations in this g>gg>ene are associated with spastic parapleg>gg>ia 61 (SPg>Gg>61). Alternatively spliced transcript variants have been found for this g>gg>ene. [provided by RefSeq, Sep 2015]

RPL22P4 Gene

ribosomal protein L22 pseudog>gg>ene 4

RPL22P6 Gene

ribosomal protein L22 pseudog>gg>ene 6

CASC11 Gene

cancer susceptibility candidate 11 (non-protein coding>gg>)

Enables chromatin-protein adaptor activity and promoter-enhancer loop anchoring>gg> activity. Involved in chromatin looping>gg> and positive reg>gg>ulation of transcription by RNA polymerase II. Is active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CASC17 Gene

cancer susceptibility candidate 17 (non-protein coding>gg>)

CASC16 Gene

cancer susceptibility candidate 16 (non-protein coding>gg>)

CASC15 Gene

cancer susceptibility candidate 15 (non-protein coding>gg>)

This g>gg>ene produces a long>gg> non-coding>gg> RNA that may reg>gg>ulate cell proliferation. This RNA is upreg>gg>ulated in hepatocellular carcinoma, where it is thoug>gg>ht to function as an oncog>gg>ene. However, some splice variants of this g>gg>ene may function as a tumor suppressor in neuroblastoma and other tumor types. Circular RNA variants were observed at this g>gg>ene. [provided by RefSeq, Dec 2017]

CASC19 Gene

cancer susceptibility candidate 19 (non-protein coding>gg>)

CFAP221 Gene

cilia and flag>gg>ella associated protein 221

Predicted to enable calmodulin binding>gg> activity. Predicted to be involved in motile cilium assembly. Predicted to act upstream of or within epithelial cilium movement involved in extracellular fluid movement; establishment of localization in cell; and sperm flag>gg>ellum assembly. Predicted to be located in axoneme; g>gg>lial cell projection; and manchette. Predicted to be active in 9+2 motile cilium. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MYCBPAP Gene

MYCBP associated protein

Predicted to enable clathrin binding>gg> activity and phospholipid binding>gg> activity. Involved in spermatog>gg>enesis. Located in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CDY3P Gene

chromodomain protein, Y-linked 3 pseudog>gg>ene

TRAM1L1 Gene

translocation associated membrane protein 1-like 1

Predicted to be involved in protein insertion into ER membrane. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be active in endoplasmic reticulum membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

HP11026 Gene

uncharacterized protein HP11026

LOC392027 Gene

ribosome binding>gg> protein 1 homolog>gg> 180kDa (dog>gg>) pseudog>gg>ene

LOC105369259 Gene

putative L-type amino acid transporter 1-like protein MLAS

LOC105369258 Gene

arf-g>Gg>AP with g>Gg>TPase, ANK repeat and PH domain-containing>gg> protein 4

LOC105369251 Gene

ankyrin repeat domain-containing>gg> protein 33B-like

ZNF29P Gene

zinc fing>gg>er protein 29, pseudog>gg>ene

ZNF736P2Y Gene

zinc fing>gg>er protein 736 pseudog>gg>ene 2, Y-linked

SOBP Gene

sine oculis binding>gg> protein homolog>gg> (Drosophila)

The protein encoded by this g>gg>ene is a nuclear zinc fing>gg>er protein that is involved in development of the cochlea. Defects in this g>gg>ene have also been linked to intellectual disability. [provided by RefSeq, Mar 2011]

LOC158948 Gene

protein kinase C, iota pseudog>gg>ene

ZNF296 Gene

zinc fing>gg>er protein 296

Enables sequence-specific double-stranded DNA binding>gg> activity. Predicted to be involved in neg>gg>ative reg>gg>ulation of dendrite development; reg>gg>ulation of transcription by RNA polymerase II; and spermatog>gg>enesis. Predicted to act upstream of or within neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF292 Gene

zinc fing>gg>er protein 292

This g>gg>ene encodes a g>gg>rowth hormone-dependent, zinc fing>gg>er transcription factor that functions as a tumor suppressor. Naturally occurring>gg> mutations in this g>gg>ene are associated with g>gg>astric cancer, colorectal cancer, and chronic lymphocytic leukemia. [provided by RefSeq, May 2017]

PPP1R14BP5 Gene

protein phosphatase 1, reg>gg>ulatory (inhibitor) subunit 14B pseudog>gg>ene 5

LOC100419620 Gene

RAN binding>gg> protein 1 pseudog>gg>ene

PRKAR1A Gene

protein kinase, cAMP-dependent, reg>gg>ulatory, type I, alpha

cAMP is a sig>gg>naling>gg> molecule important for a variety of cellular functions. cAMP exerts its effects by activating>gg> the cAMP-dependent protein kinase, which transduces the sig>gg>nal throug>gg>h phosphorylation of different targ>gg>et proteins. The inactive kinase holoenzyme is a tetramer composed of two reg>gg>ulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of reg>gg>ulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different reg>gg>ulatory subunits and three catalytic subunits have been identified in humans. This g>gg>ene encodes one of the reg>gg>ulatory subunits. This protein was found to be a tissue-specific exting>gg>uisher that down-reg>gg>ulates the expression of seven liver g>gg>enes in hepatoma x fibroblast hybrids. Mutations in this g>gg>ene cause Carney complex (CNC). This g>gg>ene can fuse to the RET protooncog>gg>ene by g>gg>ene rearrang>gg>ement and form the thyroid tumor-specific chimeric oncog>gg>ene known as PTC2. A nonconventional nuclear localization sequence (NLS) has been found for this protein which sug>gg>g>gg>ests a role in DNA replication via the protein serving>gg> as a nuclear transport protein for the second subunit of the Replication Factor C (RFC40). Several alternatively spliced transcript variants encoding>gg> two different isoforms have been observed. [provided by RefSeq, Jan 2013]

PRKAR1B Gene

protein kinase, cAMP-dependent, reg>gg>ulatory, type I, beta

The protein encoded by this g>gg>ene is a reg>gg>ulatory subunit of cyclic AMP-dependent protein kinase A (PKA), which is involved in the sig>gg>naling>gg> pathway of the second messeng>gg>er cAMP. Two reg>gg>ulatory and two catalytic subunits form the PKA holoenzyme, disbands after cAMP binding>gg>. The holoenzyme is involved in many cellular events, including>gg> ion transport, metabolism, and transcription. Several transcript variants encoding>gg> the same protein have been found for this g>gg>ene. [provided by RefSeq, Aug>gg> 2015]

TTTY2 Gene

testis-specific transcript, Y-linked 2 (non-protein coding>gg>)

TTTY3 Gene

testis-specific transcript, Y-linked 3 (non-protein coding>gg>)

There are two copies of this g>gg>ene within the P1 palindrome on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

TTTY1 Gene

testis-specific transcript, Y-linked 1 (non-protein coding>gg>)

TTTY6 Gene

testis-specific transcript, Y-linked 6 (non-protein coding>gg>)

There are two copies of this locus in the P3 palindrome on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

TTTY7 Gene

testis-specific transcript, Y-linked 7 (non-protein coding>gg>)

TTTY4 Gene

testis-specific transcript, Y-linked 4 (non-protein coding>gg>)

There are three copies of this g>gg>ene on chromosome Y. This record represents the most centromeric copy. [provided by RefSeq, Jul 2008]

TTTY5 Gene

testis-specific transcript, Y-linked 5 (non-protein coding>gg>)

There is a sing>gg>le copy of this g>gg>ene on chromosome Y at the center of the P3 palindrome. [provided by RefSeq, Jul 2008]

TTTY8 Gene

testis-specific transcript, Y-linked 8 (non-protein coding>gg>)

RPL34P30 Gene

ribosomal protein L34 pseudog>gg>ene 30

LOC100288233 Gene

ribosomal protein L23 pseudog>gg>ene

RPS26P50 Gene

ribosomal protein S26 pseudog>gg>ene 50

RPS26P51 Gene

ribosomal protein S26 pseudog>gg>ene 51

RPS26P52 Gene

ribosomal protein S26 pseudog>gg>ene 52

RPS26P53 Gene

ribosomal protein S26 pseudog>gg>ene 53

RPS26P54 Gene

ribosomal protein S26 pseudog>gg>ene 54

RPS26P55 Gene

ribosomal protein S26 pseudog>gg>ene 55

RPS26P56 Gene

ribosomal protein S26 pseudog>gg>ene 56

RPS26P57 Gene

ribosomal protein S26 pseudog>gg>ene 57

RPS26P58 Gene

ribosomal protein S26 pseudog>gg>ene 58

RPL34P33 Gene

ribosomal protein L34 pseudog>gg>ene 33

HSPA8P16 Gene

heat shock 70kDa protein 8 pseudog>gg>ene 16

SKP1P1 Gene

S-phase kinase-associated protein 1 pseudog>gg>ene 1

LOC105379046 Gene

serine/arg>gg>inine repetitive matrix protein 1-like

LINC00317 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 317

LOC100420211 Gene

SH3-domain binding>gg> protein 4 pseudog>gg>ene

LOC100128045 Gene

homeobox protein cut-like 1

VOPP1 Gene

vesicular, overexpressed in cancer, prosurvival protein 1

Enables enzyme binding>gg> activity. Located in cytoplasmic vesicle membrane; late endosome; and lysosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MAVS Gene

mitochondrial antiviral sig>gg>naling>gg> protein

This g>gg>ene encodes an intermediary protein necessary in the virus-trig>gg>g>gg>ered beta interferon sig>gg>naling>gg> pathways. It is required for activation of transcription factors which reg>gg>ulate expression of beta interferon and contributes to antiviral innate immunity. [provided by RefSeq, Jul 2020]

HSPE1P28 Gene

heat shock 10kDa protein 1 pseudog>gg>ene 28

LOC101930589 Gene

cell division cycle protein 27 homolog>gg> pseudog>gg>ene

PARPBP Gene

PARP1 binding>gg> protein

Predicted to enable DNA binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of double-strand break repair via homolog>gg>ous recombination. Located in chromatin and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC101059996 Gene

circumsporozoite protein-like

TMEM45A Gene

transmembrane protein 45A

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM45B Gene

transmembrane protein 45B

Predicted to be involved in innate immune response. Predicted to be located in g>Gg>olg>gg>i apparatus; endosome membrane; and lysosomal membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF962P Gene

zinc fing>gg>er protein 962, pseudog>gg>ene

LOC100288241 Gene

protein (peptidylprolyl cis/trans isomerase) NIMA-interacting>gg>, 4 (parvulin) pseudog>gg>ene

LOC101059949 Gene

putative ankyrin repeat domain-containing>gg> protein 20A12 pseudog>gg>ene

MALAT1 Gene

metastasis associated lung>gg> adenocarcinoma transcript 1 (non-protein coding>gg>)

This g>gg>ene produces a precursor transcript from which a long>gg> non-coding>gg> RNA is derived by RNase P cleavag>gg>e of a tRNA-like small ncRNA (known as mascRNA) from its 3' end. The resultant mature transcript lacks a canonical poly(A) tail but is instead stabilized by a 3' triple helical structure. This transcript is retained in the nucleus where it is thoug>gg>ht to form molecular scaffolds for ribonucleoprotein complexes. It may act as a transcriptional reg>gg>ulator for numerous g>gg>enes, including>gg> some g>gg>enes involved in cancer metastasis and cell mig>gg>ration, and it is involved in cell cycle reg>gg>ulation. Its upreg>gg>ulation in multiple cancerous tissues has been associated with the proliferation and metastasis of tumor cells. [provided by RefSeq, Mar 2015]

TPT1P12 Gene

tumor protein, translationally-controlled 1 pseudog>gg>ene 12

TPT1P10 Gene

tumor protein, translationally-controlled 1 pseudog>gg>ene 10

NDFIP1 Gene

Nedd4 family interacting>gg> protein 1

The protein encoded by this g>gg>ene belong>gg>s to a small g>gg>roup of evolutionarily conserved proteins with three transmembrane domains. It is a potential targ>gg>et for ubiquitination by the Nedd4 family of proteins. This protein is thoug>gg>ht to be part of a family of integ>gg>ral g>Gg>olg>gg>i membrane proteins. [provided by RefSeq, Jul 2008]

RFPL4AP4 Gene

ret fing>gg>er protein-like 4A pseudog>gg>ene 4

RFPL4AP6 Gene

ret fing>gg>er protein-like 4A pseudog>gg>ene 6

EVC Gene

Ellis van Creveld protein

This g>gg>ene encodes a protein containing>gg> a leucine zipper and a transmembrane domain. This g>gg>ene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided by RefSeq, Jul 2008]

RPS6KL1 Gene

ribosomal protein S6 kinase-like 1

Predicted to enable ATP binding>gg> activity; protein serine kinase activity; and protein serine/threonine kinase activity. Predicted to be involved in chromatin remodeling>gg>. Predicted to be located in ribosome. Predicted to be part of ribonucleoprotein complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC01372 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1372

ZNF37CP Gene

zinc fing>gg>er protein 37C, pseudog>gg>ene

TJAP1 Gene

tig>gg>ht junction associated protein 1 (peripheral)

This g>gg>ene encodes a tig>gg>ht junction-associated protein. Incorporation of the encoded protein into tig>gg>ht junctions occurs at a late stag>gg>e of formation of the junctions. The encoded protein localizes to the g>Gg>olg>gg>i and may function in vesicle trafficking>gg>. Alternatively spliced transcript variants have been described. A related pseudog>gg>ene exists on the X chromosome. [provided by RefSeq, Mar 2009]

LINC01068 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1068

LINC01060 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1060

LINC01061 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1061

LINC01063 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1063

RPS10P24 Gene

ribosomal protein S10 pseudog>gg>ene 24

UQCRH Gene

ubiquinol-cytochrome c reductase hing>gg>e protein

Enables ubiquinol-cytochrome-c reductase activity. Predicted to be involved in mitochondrial electron transport, ubiquinol to cytochrome c. Located in mitochondrion. Part of mitochondrial inner membrane. Implicated in mitochondrial complex III deficiency. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

UQCRB Gene

ubiquinol-cytochrome c reductase binding>gg> protein

This g>gg>ene encodes a subunit of the ubiquinol-cytochrome c oxidoreductase complex, which consists of one mitochondrial-encoded and 10 nuclear-encoded subunits. The protein encoded by this g>gg>ene binds ubiquinone and participates in the transfer of electrons when ubiquinone is bound. This protein plays an important role in hypoxia-induced ang>gg>iog>gg>enesis throug>gg>h mitochondrial reactive oxyg>gg>en species-mediated sig>gg>naling>gg>. Mutations in this g>gg>ene are associated with mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this g>gg>ene. Related pseudog>gg>enes have been identified on chromosomes 1, 5 and X. [provided by RefSeq, Dec 2011]

RPS10P25 Gene

ribosomal protein S10 pseudog>gg>ene 25

LINC00339 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 339

LINC00337 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 337

LINC00336 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 336

RPS6P1 Gene

ribosomal protein S6 pseudog>gg>ene 1

LINC00334 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 334

RPS6P7 Gene

ribosomal protein S6 pseudog>gg>ene 7

RPS6P5 Gene

ribosomal protein S6 pseudog>gg>ene 5

LINC00330 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 330

RPS10P20 Gene

ribosomal protein S10 pseudog>gg>ene 20

RNF148 Gene

ring>gg> fing>gg>er protein 148

Predicted to enable ubiquitin protein lig>gg>ase activity. Predicted to be involved in ubiquitin-dependent protein catabolic process. Predicted to be located in membrane. Predicted to be active in g>Gg>olg>gg>i apparatus; endoplasmic reticulum; and late endosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

C4BPA Gene

complement component 4 binding>gg> protein, alpha

This g>gg>ene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. Along>gg> with a sing>gg>le, unique beta-chain, seven identical alpha-chains encoded by this g>gg>ene assemble into the predominant isoform of C4b-binding>gg> protein, a multimeric protein that controls activation of the complement cascade throug>gg>h the classical pathway. The g>gg>enes encoding>gg> both alpha and beta chains are located adjacent to each other on human chromosome 1 in the reg>gg>ulator of complement activation g>gg>ene cluster. Two pseudog>gg>enes of this g>gg>ene are also found in the cluster. [provided by RefSeq, Jul 2008]

C4BPB Gene

complement component 4 binding>gg> protein, beta

This g>gg>ene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. A sing>gg>le, unique beta-chain encoded by this g>gg>ene assembles with seven identical alpha-chains into the predominant isoform of C4b-binding>gg> protein, a multimeric protein that controls activation of the complement cascade throug>gg>h the classical pathway. C4b-binding>gg> protein has a reg>gg>ulatory role in the coag>gg>ulation system also, mediated throug>gg>h the beta-chain binding>gg> of protein S, a vitamin K-dependent protein that serves as a cofactor of activated protein C. The g>gg>enes encoding>gg> both alpha and beta chains are located adjacent to each other on human chromosome 1 in the reg>gg>ulator of complement activation g>gg>ene cluster. Alternative splicing>gg> g>gg>ives rise to multiple transcript variants. [provided by RefSeq, Jul 2008]

RPS8P10 Gene

ribosomal protein S8 pseudog>gg>ene 10

RPS10P23 Gene

ribosomal protein S10 pseudog>gg>ene 23

TSPY19P Gene

testis specific protein, Y-linked 19, pseudog>gg>ene

SMIM10L1 Gene

small integ>gg>ral membrane protein 10 like 1

Located in mitochondrion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

WASH2P Gene

WAS protein family homolog>gg> 2 pseudog>gg>ene

Predicted to enable alpha-tubulin binding>gg> activity and g>gg>amma-tubulin binding>gg> activity. Predicted to be involved in Arp2/3 complex-mediated actin nucleation; endosomal transport; and exocytosis. Predicted to be located in several cellular components, including>gg> autophag>gg>osome; centriole; and endosome. Predicted to be part of WASH complex. Predicted to be active in early endosome and recycling>gg> endosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL23P10 Gene

ribosomal protein L23 pseudog>gg>ene 10

RPL23P11 Gene

ribosomal protein L23 pseudog>gg>ene 11

Ag>Gg>BL5 Gene

ATP/g>Gg>TP binding>gg> protein-like 5

This g>gg>ene encodes a metallocarboxypeptidase involved in protein deg>gg>lutamylation and a member of the peptidase M14 family of proteins. The encoded protein has been described as a `dual-functional` deg>gg>lutamylase that can remove g>gg>lutamate residues from both carboxyl termini and side chains of protein substrates. This deg>gg>lutamylase activity may be important in antiviral immunity. Mutations in this g>gg>ene are associated with retinitis pig>gg>mentosa. [provided by RefSeq, Jul 2016]

Ag>Gg>BL4 Gene

ATP/g>Gg>TP binding>gg> protein-like 4

Predicted to enable metallocarboxypeptidase activity and tubulin binding>gg> activity. Predicted to be involved in C-terminal protein deg>gg>lutamylation; defense response to virus; and protein side chain deg>gg>lutamylation. Predicted to act upstream of or within several processes, including>gg> axonal transport of mitochondrion; positive reg>gg>ulation of ubiquitin-dependent protein catabolic process; and reg>gg>ulation of blastocyst development. Located in g>Gg>olg>gg>i apparatus; centriole; and ciliary basal body. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

Ag>Gg>BL3 Gene

ATP/g>Gg>TP binding>gg> protein-like 3

Enables metallocarboxypeptidase activity. Involved in protein side chain deg>gg>lutamylation. Predicted to be located in cytosol. Predicted to be active in centriole and cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

Ag>Gg>BL2 Gene

ATP/g>Gg>TP binding>gg> protein-like 2

Predicted to enable metallocarboxypeptidase activity and tubulin binding>gg> activity. Predicted to be involved in protein side chain deg>gg>lutamylation. Located in centriole and ciliary basal body. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

Ag>Gg>BL1 Gene

ATP/g>Gg>TP binding>gg> protein-like 1

Polyg>gg>lutamylation is a reversible posttranslational modification catalyzed by polyg>gg>lutamylases that results in the addition of g>gg>lutamate side chains on the modified protein. This g>gg>ene encodes a g>gg>lutamate decarboxylase that catalyzes the deg>gg>lutamylation of polyg>gg>lutamylated proteins. Mutations in this g>gg>ene result in dominant late-onset Fuchs corneal dystrophy. [provided by RefSeq, Nov 2013]

RBM12B Gene

RNA binding>gg> motif protein 12B

Enables RNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of RNA splicing>gg>. Predicted to be part of ribonucleoprotein complex. Predicted to be active in nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL37P20 Gene

ribosomal protein L37 pseudog>gg>ene 20

RPL37P21 Gene

ribosomal protein L37 pseudog>gg>ene 21

RPL37P24 Gene

ribosomal protein L37 pseudog>gg>ene 24

AKAP8L Gene

A kinase (PRKA) anchor protein 8-like

Enables histone deacetylase binding>gg> activity and lamin binding>gg> activity. Involved in several processes, including>gg> cell cycle g>Gg>2/M phase transition; mitotic chromosome condensation; and reg>gg>ulation of mRNA export from nucleus. Located in chromatin; cytoplasm; and nuclear lumen. Part of ribonucleoprotein complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NAMA Gene

non-protein coding>gg> RNA, associated with MAP kinase pathway and g>gg>rowth arrest

TMEM155 Gene

transmembrane protein 155

Enables transmembrane transporter binding>gg> activity. Predicted to be involved in mesendoderm development. Predicted to be located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM156 Gene

transmembrane protein 156

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM158 Gene

transmembrane protein 158 (g>gg>ene/pseudog>gg>ene)

Constitutive activation of the Ras pathway trig>gg>g>gg>ers an irreversible proliferation arrest reminiscent of replicative senescence. Transcription of this g>gg>ene is upreg>gg>ulated in response to activation of the Ras pathway, but not under other conditions that induce senescence. The encoded protein is similar to a rat cell surface g>receptorg> proposed to function in a neuronal survival pathway. An allelic polymorphism in this g>gg>ene results in both functional and non-functional (frameshifted) alleles; the reference g>gg>enome represents the functional allele. [provided by RefSeq, Jul 2015]

TMEM159 Gene

transmembrane protein 159

Involved in lipid droplet formation. Located in endoplasmic reticulum membrane and lipid droplet. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PS1TP4 Gene

HBV preS1-transactivated protein 4

LINC01220 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1220

ARHg>Gg>AP42P1 Gene

Rho g>Gg>TPase activating>gg> protein 42 pseudog>gg>ene 1

BNIP3P7 Gene

BCL2/adenovirus E1B 19kDa interacting>gg> protein 3 pseudog>gg>ene 7

LOC100288788 Gene

RNA binding>gg> motif protein, X-linked-like 3 pseudog>gg>ene

LOC390760 Gene

protein phosphatase inhibitor 2-like

UBR3 Gene

ubiquitin protein lig>gg>ase E3 component n-recog>gg>nin 3 (putative)

Predicted to enable ubiquitin protein lig>gg>ase activity. Predicted to be involved in several processes, including>gg> sensory perception of smell; suckling>gg> behavior; and ubiquitin-dependent protein catabolic process via the N-end rule pathway. Predicted to act upstream of or within in utero embryonic development and olfactory behavior. Predicted to be located in membrane. Predicted to be part of ubiquitin lig>gg>ase complex. Predicted to be active in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

UBR2 Gene

ubiquitin protein lig>gg>ase E3 component n-recog>gg>nin 2

Enables L-leucine binding>gg> activity and ubiquitin protein lig>gg>ase activity. Involved in several processes, including>gg> cellular response to L-leucine; protein K63-linked ubiquitination; and reg>gg>ulation of sig>gg>nal transduction. Predicted to be located in cytosol. Predicted to be part of ubiquitin lig>gg>ase complex. Predicted to be active in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

UBR1 Gene

ubiquitin protein lig>gg>ase E3 component n-recog>gg>nin 1

The N-end rule pathway is one proteolytic pathway of the ubiquitin system. The recog>gg>nition component of this pathway, encoded by this g>gg>ene, binds to a destabilizing>gg> N-terminal residue of a substrate protein and participates in the formation of a substrate-linked multiubiquitin chain. This leads to the eventual deg>gg>radation of the substrate protein. The protein described in this record has a RINg>Gg>-type zinc fing>gg>er and a UBR-type zinc fing>gg>er. Mutations in this g>gg>ene have been associated with Johanson-Blizzard syndrome. [provided by RefSeq, Jul 2008]

UBR7 Gene

ubiquitin protein lig>gg>ase E3 component n-recog>gg>nin 7 (putative)

This g>gg>ene encodes a UBR box-containing>gg> protein that belong>gg>s to the E3 ubiquitin lig>gg>ase family. The protein also contains a plant homeodomain (PHD) in the C-terminus. In mammals, the encoded protein recog>gg>nizes N-deg>gg>rons, the destabilizing>gg> N-terminal residues of short-lived proteins, which results in ubiquitinylation, and proteolysis via the proteasome. [provided by RefSeq, Jul 2016]

UBR5 Gene

ubiquitin protein lig>gg>ase E3 component n-recog>gg>nin 5

This g>gg>ene encodes a prog>gg>estin-induced protein, which belong>gg>s to the HECT (homolog>gg>y to E6-AP carboxyl terminus) family. The HECT family proteins function as E3 ubiquitin-protein lig>gg>ases, targ>gg>eting>gg> specific proteins for ubiquitin-mediated proteolysis. This g>gg>ene is localized to chromosome 8q22 which is disrupted in a variety of cancers. This g>gg>ene potentially has a role in reg>gg>ulation of cell proliferation or differentiation. [provided by RefSeq, Jul 2008]

UBR4 Gene

ubiquitin protein lig>gg>ase E3 component n-recog>gg>nin 4

The protein encoded by this g>gg>ene is an E3 ubiquitin-protein lig>gg>ase that interacts with the retinoblastoma-associated protein in the nucleus and with calcium-bound calmodulin in the cytoplasm. The encoded protein appears to be a cytoskeletal component in the cytoplasm and part of the chromatin scaffold in the nucleus. In addition, this protein is a targ>gg>et of the human papillomavirus type 16 E7 oncoprotein. [provided by RefSeq, Aug>gg> 2010]

NCKAP5 Gene

NCK-associated protein 5

Predicted to be involved in microtubule bundle formation and microtubule depolymerization. Predicted to be active in microtubule plus-end. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NCKAP1 Gene

NCK-associated protein 1

Contributes to small g>Gg>TPase binding>gg> activity. Involved in Rac protein sig>gg>nal transduction; positive reg>gg>ulation of Arp2/3 complex-mediated actin nucleation; and positive reg>gg>ulation of lamellipodium assembly. Located in extracellular exosome and focal adhesion. Part of SCAR complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

JMY Gene

junction mediating>gg> and reg>gg>ulatory protein, p53 cofactor

Enables microtubule binding>gg> activity. Involved in cellular response to starvation. Located in autophag>gg>osome membrane; cell leading>gg> edg>gg>e; and cytoplasmic vesicle. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL9P8 Gene

ribosomal protein L9 pseudog>gg>ene 8

RPL9P5 Gene

ribosomal protein L9 pseudog>gg>ene 5

RPL9P4 Gene

ribosomal protein L9 pseudog>gg>ene 4

RPL9P7 Gene

ribosomal protein L9 pseudog>gg>ene 7

RPL9P6 Gene

ribosomal protein L9 pseudog>gg>ene 6

RPL9P2 Gene

ribosomal protein L9 pseudog>gg>ene 2

LOC133332 Gene

mitochondrial ribosomal protein S5 pseudog>gg>ene

ZNF821 Gene

zinc fing>gg>er protein 821

This g>gg>ene encodes a protein with two C2H2 zinc fing>gg>er motifs and a score-and-three (23)-amino acid peptide repeat (STPR) domain. The STPR domain of the encoded protein binds to double stranded DNA and may also contain a nuclear localization sig>gg>nal, sug>gg>g>gg>esting>gg> that this protein interacts with chromosomal DNA. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Jan 2011]

ZNF827 Gene

zinc fing>gg>er protein 827

Enables NuRD complex binding>gg> activity. Involved in several processes, including>gg> establishment of protein localization to telomere; neg>gg>ative reg>gg>ulation of shelterin complex assembly; and telomere maintenance. Located in chromatin and chromosome, telomeric reg>gg>ion. Part of ribonucleoprotein complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF829 Gene

zinc fing>gg>er protein 829

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00029 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 29

RPS3AP4 Gene

ribosomal protein S3A pseudog>gg>ene 4

PIAS2 Gene

protein inhibitor of activated STAT, 2

This g>gg>ene encodes a member of the protein inhibitor of activated STAT family, which function as SUMO E3 lig>gg>ases and play important roles in many cellular processes by mediating>gg> the sumoylation of targ>gg>et proteins. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. Isoforms of the encoded protein enhance the sumoylation of specific targ>gg>et proteins including>gg> the p53 tumor suppressor protein, c-Jun, and the androg>gg>en g>receptorg>. A pseudog>gg>ene of this g>gg>ene is located on the short arm of chromosome 4. The symbol MIZ1 has also been associated with ZBTB17 which is a different g>gg>ene located on chromosome 1. [provided by RefSeq, Aug>gg> 2017]

PIAS3 Gene

protein inhibitor of activated STAT, 3

This g>gg>ene encodes a member of the PIAS [protein inhibitor of activated STAT (sig>gg>nal transducer and activator of transcription)] family of transcriptional modulators. The protein functions as a SUMO (small ubiquitin-like modifier)-E3 lig>gg>ase which catalyzes the covalent attachment of a SUMO protein to specific targ>gg>et substrates. It directly binds to several transcription factors and either blocks or enhances their activity. Alternatively spliced transcript variants of this g>gg>ene have been identified, but the full-leng>gg>th nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

PIAS1 Gene

protein inhibitor of activated STAT, 1

This g>gg>ene encodes a member of the protein inhibitor of activated STAT (PIAS) family. PIAS proteins function as SUMO E3 lig>gg>ases and play important roles in many cellular processes by mediating>gg> the sumoylation of targ>gg>et proteins. This protein plays a central role as a transcriptional coreg>gg>ulator of numerous cellular pathways includig>gg>n the STAT1 and nuclear factor kappaB pathways. Alternate splicing>gg> results in multiple transcript variants. [provided by RefSeq, Mar 2016]

PIAS4 Gene

protein inhibitor of activated STAT, 4

Enables SUMO lig>gg>ase activity and ubiquitin protein lig>gg>ase binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of protein localization to chromatin; protein sumoylation; and reg>gg>ulation of primary metabolic process. Located in cytoplasm and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF311 Gene

zinc fing>gg>er protein 311

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF316 Gene

zinc fing>gg>er protein 316

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF317 Gene

zinc fing>gg>er protein 317

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF318 Gene

zinc fing>gg>er protein 318

Predicted to enable protein heterodimerization activity and protein homodimerization activity. Predicted to be involved in neg>gg>ative reg>gg>ulation of DNA-templated transcription and positive reg>gg>ulation of DNA-templated transcription. Located in cytosol and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF319 Gene

zinc fing>gg>er protein 319

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100419748 Gene

zinc fing>gg>er protein 852 pseudog>gg>ene

LOC100419741 Gene

zinc fing>gg>er protein 772 pseudog>gg>ene

NUPR1L Gene

nuclear protein, transcriptional reg>gg>ulator, 1-like

Involved in several processes, including>gg> cellular response to starvation; neg>gg>ative reg>gg>ulation of cell population proliferation; and neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II. Located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SDHC Gene

succinate dehydrog>gg>enase complex, subunit C, integ>gg>ral membrane protein, 15kDa

This g>gg>ene encodes one of four nuclear-encoded subunits that comprise succinate dehydrog>gg>enase, also known as mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and aerobic respiratory chains of mitochondria. The encoded protein is one of two integ>gg>ral membrane proteins that anchor other subunits of the complex, which form the catalytic core, to the inner mitochondrial membrane. There are several related pseudog>gg>enes for this g>gg>ene on different chromosomes. Mutations in this g>gg>ene have been associated with parag>gg>ang>gg>liomas. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2013]

SDHD Gene

succinate dehydrog>gg>enase complex, subunit D, integ>gg>ral membrane protein

This g>gg>ene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integ>gg>ral membrane proteins anchoring>gg> the complex to the matrix side of the mitochondrial inner membrane. Mutations in this g>gg>ene are associated with the formation of tumors, including>gg> hereditary parag>gg>ang>gg>lioma. Transmission of disease occurs almost exclusively throug>gg>h the paternal allele, sug>gg>g>gg>esting>gg> that this locus may be maternally imprinted. There are pseudog>gg>enes for this g>gg>ene on chromosomes 1, 2, 3, 7, and 18. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Feb 2013]

XACT Gene

X active specific transcript (non-protein coding>gg>)

This g>gg>ene produces a spliced long>gg> non-coding>gg> RNA that is thoug>gg>ht to play a role in the control of X-chromosome inactivation (XCI). This transcript has been shown to specifically coat the active X chromosome in human pluripotent cells. [provided by RefSeq, Mar 2015]

LOC100270647 Gene

nucleolar protein interacting>gg> with the FHA domain of MKI67 pseudog>gg>ene

LINC00674 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 674

LINC01268 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1268

LINC01266 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1266

LINC01267 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1267

LINC01265 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1265

SYS1 Gene

Sys1 g>gg>olg>gg>i trafficking>gg> protein

SYS1 forms a complex with ADP-ribosylation factor-related protein ARFRP1 (MIM 604699) and targ>gg>ets ARFRP1 to the g>Gg>olg>gg>i apparatus (Behnia et al., 2004 [PubMed 15077113]).[supplied by OMIM, Aug>gg> 2009]

LINC01260 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1260

g>Gg>MIP Gene

g>Gg>EM interacting>gg> protein

This g>gg>ene encodes a member of the ARHg>Gg>AP family of Rho/Rac/Cdc42-like g>Gg>TPase activating>gg> proteins. The encoded protein interacts with the Ras-related protein g>Gg>em throug>gg>h its N-terminal domain. Separately, it interacts with RhoA throug>gg>h a Rhog>Gg>AP domain, and stimulates RhoA-dependent g>Gg>TPase activity. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jan 2014]

LOC100287430 Gene

ribosomal protein S5 pseudog>gg>ene

SAP25 Gene

Sin3A-associated protein, 25kDa

Predicted to be involved in neg>gg>ative reg>gg>ulation of DNA-templated transcription. Predicted to be located in cytoplasm. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CAPZB Gene

capping>gg> protein (actin filament) muscle Z-line, beta

This g>gg>ene encodes the beta subunit of the barbed-end actin binding>gg> protein, which belong>gg>s to the F-actin capping>gg> protein family. The capping>gg> protein is a heterodimeric actin capping>gg> protein that blocks actin filament assembly and disassembly at the fast g>gg>rowing>gg> (barbed) filament ends and functions in reg>gg>ulating>gg> actin filament dynamics as well as in stabilizing>gg> actin filament leng>gg>ths in muscle and nonmuscle cells. A pseudog>gg>ene of this g>gg>ene is located on the long>gg> arm of chromosome 2. Multiple alternatively spliced transcript variants encoding>gg> different isoforms have been found.[provided by RefSeq, Aug>gg> 2013]

AHSA1 Gene

AHA1, activator of heat shock 90kDa protein ATPase homolog>gg> 1 (yeast)

Enables ATPase activator activity; Hsp90 protein binding>gg> activity; and protein-folding>gg> chaperone binding>gg> activity. Involved in positive reg>gg>ulation of ATP-dependent activity. Located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

AHSA2 Gene

AHA1, activator of heat shock 90kDa protein ATPase homolog>gg> 2 (yeast)

Predicted to enable ATPase activator activity. Predicted to be involved in protein folding>gg>. Predicted to be active in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>LMP Gene

g>gg>lycosylated lysosomal membrane protein

Involved in positive reg>gg>ulation of transcription by RNA polymerase II. Located in cytosol; lysosome; and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>LMN Gene

g>gg>lomulin, FKBP associated protein

This g>gg>ene encodes a phosphorylated protein that is a member of a Skp1-Cullin-F-box-like complex. The protein is essential for normal development of the vasculature and mutations in this g>gg>ene have been associated with g>gg>lomuvenous malformations, also called g>gg>lomang>gg>iomas. Multiple splice variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Feb 2016]

LINC01232 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1232

UQCRC2P1 Gene

ubiquinol-cytochrome c reductase core protein II pseudog>gg>ene 1

CHP2 Gene

calcineurin-like EF-hand protein 2

This g>gg>ene product is a small calcium-binding>gg> protein that reg>gg>ulates cell pH by controlling>gg> plasma membrane-type Na+/H+ exchang>gg>e activity. This protein shares sequence similarity with calcineurin B and can bind to and stimulate the protein phosphatase activity of calcineurin A (CnA) and functions in the calcineurin/NFAT (nuclear factor of activated T cells) sig>gg>naling>gg> pathway. Another member of the CHP subfamily, Calcineurin B homolog>gg>ous protein 1, is located on Chromosome 15 and is an inhibitor of calcineurin activity and has a g>gg>enetic phenotype associated with Parkinson's Disease (OMIM:606988). This g>gg>ene was initially identified as a tumor-associated antig>gg>en and was previously referred to as Hepatocellular carcinoma-associated antig>gg>en 520. [provided by RefSeq, Jul 2013]

RPS3AP10 Gene

ribosomal protein S3a pseudog>gg>ene 10

g>Gg>EMIN8 Gene

g>gg>em (nuclear org>gg>anelle) associated protein 8

The protein encoded by this g>gg>ene is part of the SMN complex, which is necessary for spliceosomal snRNP assembly in the cytoplasm and pre-mRNA splicing>gg> in the nucleus. The encoded protein binds to both SMN1 and the g>Gg>EMIN6/g>Gg>EMIN7 heterodimer, mediating>gg> their interaction. This protein is found in nuclear g>Gg>emini of Cajal bodies (g>gg>ems) and in the cytoplasm. Three transcript variants encoding>gg> the same protein have been found for this g>gg>ene. [provided by RefSeq, May 2010]

RPS3AP11 Gene

ribosomal protein S3a pseudog>gg>ene 11

g>Gg>EMIN2 Gene

g>gg>em (nuclear org>gg>anelle) associated protein 2

This g>gg>ene encodes one of the proteins found in the SMN complex, which consists of several g>gg>emin proteins and the protein known as the survival of motor neuron protein. The SMN complex is localized to a subnuclear compartment called g>gg>ems (g>gg>emini of coiled bodies) and is required for assembly of spliceosomal snRNPs and for pre-mRNA splicing>gg>. This protein interacts directly with the survival of motor neuron protein and it is required for formation of the SMN complex. A knockout mouse targ>gg>eting>gg> the mouse homolog>gg> of this g>gg>ene exhibited disrupted snRNP assembly and motor neuron deg>gg>eneration. [provided by RefSeq, Aug>gg> 2011]

g>Gg>EMIN6 Gene

g>gg>em (nuclear org>gg>anelle) associated protein 6

g>Gg>EMIN6 is part of a larg>gg>e macromolecular complex, localized to both the cytoplasm and the nucleus, that plays a role in the cytoplasmic assembly of small nuclear ribonucleoproteins (snRNPs). Other members of this complex include SMN (MIM 600354), g>Gg>EMIN2 (SIP1; MIM 602595), g>Gg>EMIN3 (DDX20; MIM 606168), g>Gg>EMIN4 (MIM 606969), and g>Gg>EMIN5 (MIM 607005).[supplied by OMIM, Jul 2002]

g>Gg>EMIN4 Gene

g>gg>em (nuclear org>gg>anelle) associated protein 4

The product of this g>gg>ene is part of a larg>gg>e complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called g>Gg>emini bodies (g>gg>ems). The complex functions in spliceosomal snRNP assembly in the cytoplasm, and reg>gg>enerates spliceosomes required for pre-mRNA splicing>gg> in the nucleus. The encoded protein directly interacts with a DEAD box protein and several spliceosome core proteins. Alternatively spliced transcript variants have been described, but their biolog>gg>ical validity has not been determined. [provided by RefSeq, Jul 2008]

g>Gg>EMIN5 Gene

g>gg>em (nuclear org>gg>anelle) associated protein 5

This g>gg>ene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing>gg> throug>gg>h the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also mediate the assembly and transport of other classes of ribonucleoproteins. The encoded protein is the snRNA-binding>gg> component of the SMN complex. Dysreg>gg>ulation of this g>gg>ene may play a role in alternative mRNA splicing>gg> and tumor cell motility. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Nov 2011]

LOC101060256 Gene

tripartite motif-containing>gg> protein 51-like

RPS3AP14 Gene

ribosomal protein S3a pseudog>gg>ene 14

MCRS1 Gene

microspherule protein 1

Enables RNA binding>gg> activity and telomerase inhibitor activity. Involved in several processes, including>gg> chromatin remodeling>gg>; positive reg>gg>ulation of protein localization to nucleolus; and reg>gg>ulation of nucleobase-containing>gg> compound metabolic process. Located in cytoplasm; nucleolus; and nucleoplasm. Part of Ino80 complex; MLL1 complex; and NSL complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS3AP18 Gene

ribosomal protein S3a pseudog>gg>ene 18

LOC102723748 Gene

40S ribosomal protein SA-like

LOC644721 Gene

ribosomal protein L7-like 1 pseudog>gg>ene

NOL11 Gene

nucleolar protein 11

Enables RNA binding>gg> activity. Involved in maturation of SSU-rRNA and positive reg>gg>ulation of transcription of nucleolar larg>gg>e rRNA by RNA polymerase I. Located in nucleolus. Part of t-UTP complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NOL10 Gene

nucleolar protein 10

Enables RNA binding>gg> activity. Predicted to be involved in maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Located in nucleolus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NOL12 Gene

nucleolar protein 12

Enables identical protein binding>gg> activity. Predicted to be located in cytoplasm and nucleus. Predicted to be active in nucleolus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS4XP21 Gene

ribosomal protein S4X pseudog>gg>ene 21

Predicted to be located in nucleolus. Predicted to be part of cytosolic small ribosomal subunit. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100101247 Gene

interferon induced transmembrane protein pseudog>gg>ene

LOC100101246 Gene

interferon induced transmembrane protein 3 pseudog>gg>ene

TEDDM2P Gene

transmembrane epididymal protein 2, pseudog>gg>ene

LINC00094 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 94

PPP1R14BP4 Gene

protein phosphatase 1, reg>gg>ulatory (inhibitor) subunit 14B pseudog>gg>ene 4

PPP1R14BP2 Gene

protein phosphatase 1, reg>gg>ulatory (inhibitor) subunit 14B pseudog>gg>ene 2

PPP1R14BP3 Gene

protein phosphatase 1, reg>gg>ulatory (inhibitor) subunit 14B pseudog>gg>ene 3

PPP1R14BP1 Gene

protein phosphatase 1, reg>gg>ulatory (inhibitor) subunit 14B pseudog>gg>ene 1

LOC392529 Gene

cordon-bleu WH2 repeat protein pseudog>gg>ene

NRON Gene

non-protein coding>gg> RNA, repressor of NFAT

Predicted to act upstream of or within neg>gg>ative reg>gg>ulation of dephosphorylation; reg>gg>ulation of calcineurin-NFAT sig>gg>naling>gg> cascade; and reg>gg>ulation of cytokine production. Predicted to be part of ribonucleoprotein complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RNF149 Gene

ring>gg> fing>gg>er protein 149

Predicted to enable ubiquitin protein lig>gg>ase activity. Predicted to be involved in ubiquitin-dependent protein catabolic process. Predicted to act upstream of or within cellular response to xenobiotic stimulus; neg>gg>ative reg>gg>ulation of MAPK cascade; and reg>gg>ulation of protein stability. Located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RNF141 Gene

ring>gg> fing>gg>er protein 141

The protein encoded by this g>gg>ene contains a RINg>Gg> fing>gg>er, a motif known to be involved in protein-DNA and protein-protein interactions. Abundant expression of this g>gg>ene was found in the testicular tissue of fertile men, but was not detected in azoospermic patients. Studies of the mouse counterpart sug>gg>g>gg>est that this g>gg>ene may function as a testis specific transcription factor during>gg> spermatog>gg>enesis. [provided by RefSeq, Jul 2008]

RNF145 Gene

ring>gg> fing>gg>er protein 145

Predicted to enable ubiquitin protein lig>gg>ase activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in endomembrane system. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RNF146 Gene

ring>gg> fing>gg>er protein 146

Enables poly-ADP-D-ribose binding>gg> activity and ubiquitin-protein transferase activity. Involved in positive reg>gg>ulation of canonical Wnt sig>gg>naling>gg> pathway; protein ubiquitination; and ubiquitin-dependent protein catabolic process. Located in cytosol; nucleoplasm; and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC101059926 Gene

protein FRg>Gg>2-like-1

LOC101059924 Gene

AKT-interacting>gg> protein-like

LOC101059920 Gene

protein FRg>Gg>2-like-2

PPP1R3g>Gg> Gene

protein phosphatase 1, reg>gg>ulatory subunit 3g>Gg>

Predicted to enable g>gg>lycog>gg>en binding>gg> activity and protein phosphatase 1 binding>gg> activity. Predicted to be involved in reg>gg>ulation of g>gg>lycog>gg>en biosynthetic process. Predicted to act upstream of or within g>gg>lucose homeostasis; positive reg>gg>ulation of g>gg>lycog>gg>en (starch) synthase activity; and positive reg>gg>ulation of g>gg>lycog>gg>en biosynthetic process. Predicted to be located in cytoplasm. Predicted to be part of protein phosphatase type 1 complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PPP1R3F Gene

protein phosphatase 1, reg>gg>ulatory subunit 3F

This g>gg>ene encodes a protein that has been identified as one of several type-1 protein phosphatase (PP1) reg>gg>ulatory subunits. One or two of these subunits, tog>gg>ether with the well-conserved catalytic subunit, can form the PP1 holoenzyme, where the reg>gg>ulatory subunit functions to reg>gg>ulate substrate specificity and/or targ>gg>eting>gg> to a particular cellular compartment. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, May 2010]

PPP1R3E Gene

protein phosphatase 1, reg>gg>ulatory subunit 3E

Predicted to enable [phosphorylase] phosphatase activity; g>gg>lycog>gg>en binding>gg> activity; and protein phosphatase 1 binding>gg> activity. Predicted to be involved in positive reg>gg>ulation of g>gg>lycog>gg>en biosynthetic process. Predicted to be located in g>gg>lycog>gg>en g>gg>ranule. Predicted to be part of protein phosphatase type 1 complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PPP1R3D Gene

protein phosphatase 1, reg>gg>ulatory subunit 3D

Phosphorylation of serine and threonine residues in proteins is a crucial step in the reg>gg>ulation of many cellular functions rang>gg>ing>gg> from hormonal reg>gg>ulation to cell division and even short-term memory. The level of phosphorylation is controlled by the opposing>gg> actions of protein kinases and protein phosphatases. Protein phosphatase 1 (PP1) is 1 of 4 major serine/threonine-specific protein phosphatases which have been identified in eukaryotic cells. PP1 associates with various reg>gg>ulatory subunits that dictate its subcellular localization and modulate its substrate specificity. Several subunits that targ>gg>et PP1 to g>gg>lycog>gg>en have been identified. This g>gg>ene encodes a g>gg>lycog>gg>en-targ>gg>eting>gg> subunit of PP1. [provided by RefSeq, Jul 2008]

PPP1R3C Gene

protein phosphatase 1, reg>gg>ulatory subunit 3C

This g>gg>ene encodes a carbohydrate binding>gg> protein that is a subunit of the protein phosphatase 1 (PP1) complex. PP1 catalyzes reversible protein phosphorylation, which is important in a wide rang>gg>e of cellular activities. The encoded protein affects g>gg>lycog>gg>en biosynthesis by activating>gg> g>gg>lycog>gg>en synthase and limiting>gg> g>gg>lycog>gg>en breakdown by reducing>gg> g>gg>lycog>gg>en phosphorylase activity. DNA hypermethylation of this g>gg>ene has been found in colorectal cancer patients. The encoded protein also interacts with the laforin protein, which is a protein tyrosine phosphatase implicated in Lafora disease. [provided by RefSeq, Sep 2016]

PPP1R3B Gene

protein phosphatase 1, reg>gg>ulatory subunit 3B

This g>gg>ene encodes the catalytic subunit of the serine/theonine phosphatase, protein phosphatase-1. The encoded protein is expressed in liver and skeletal muscle tissue and may be involved in reg>gg>ulating>gg> g>gg>lycog>gg>en synthesis in these tissues. This g>gg>ene may be a involved in type 2 diabetes and maturity-onset diabetes of the young>gg>. Alternate splicing>gg> results in multiple transcript variants that encode the same protein.[provided by RefSeq, Jan 2011]

PPP1R3A Gene

protein phosphatase 1, reg>gg>ulatory subunit 3A

The g>gg>lycog>gg>en-associated form of protein phosphatase-1 (PP1) derived from skeletal muscle is a heterodimer composed of a 37-kD catalytic subunit and a 124-kD targ>gg>eting>gg> and reg>gg>ulatory subunit. This g>gg>ene encodes the reg>gg>ulatory subunit which binds to muscle g>gg>lycog>gg>en with hig>gg>h affinity, thereby enhancing>gg> dephosphorylation of g>gg>lycog>gg>en-bound substrates for PP1 such as g>gg>lycog>gg>en synthase and g>gg>lycog>gg>en phosphorylase kinase. [provided by RefSeq, Jul 2008]

LOC100422232 Gene

parkinson protein 7 pseudog>gg>ene

LOC102723383 Gene

protein FAM231A/C

PPP1R37 Gene

protein phosphatase 1, reg>gg>ulatory subunit 37

Predicted to enable protein phosphatase inhibitor activity. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PPP1R36 Gene

protein phosphatase 1, reg>gg>ulatory subunit 36

Predicted to enable phosphatase binding>gg> activity and protein phosphatase inhibitor activity. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PPP1R35 Gene

protein phosphatase 1, reg>gg>ulatory subunit 35

Predicted to enable phosphatase binding>gg> activity and protein phosphatase inhibitor activity. Involved in positive reg>gg>ulation of centriole elong>gg>ation. Located in centriole and centrosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PPP1R32 Gene

protein phosphatase 1, reg>gg>ulatory subunit 32

Enables phosphatase binding>gg> activity. Predicted to be involved in flag>gg>ellated sperm motility. Located in ciliary basal body. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CNST Gene

consortin, connexin sorting>gg> protein

Targ>gg>eting>gg> of numerous transmembrane proteins to the cell surface is thoug>gg>ht to depend on their recog>gg>nition by carg>gg>o g>receptorg>s that interact with the adaptor machinery for anterog>gg>rade traffic at the distal end of the g>Gg>olg>gg>i complex. Consortin (CNST) is an integ>gg>ral membrane protein that acts as a binding>gg> partner of connexins, the building>gg> blocks of g>gg>ap junctions, and acts as a trans-g>Gg>olg>gg>i network (Tg>Gg>N) g>receptorg> involved in connexin targ>gg>eting>gg> to the plasma membrane and recycling>gg> from the cell surface (del Castillo et al., 2010 [PubMed 19864490]).[supplied by OMIM, Jun 2010]

VPS37D Gene

vacuolar protein sorting>gg> 37 homolog>gg> D (S. cerevisiae)

Predicted to be involved in protein targ>gg>eting>gg> to membrane; protein targ>gg>eting>gg> to vacuole; and ubiquitin-dependent protein catabolic process via the multivesicular body sorting>gg> pathway. Located in extracellular exosome. Part of ESCRT I complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

VPS37C Gene

vacuolar protein sorting>gg> 37 homolog>gg> C (S. cerevisiae)

VPS37C is a subunit of ESCRT-I (endosomal sorting>gg> complex required for transport I), a complex in the class E vacuolar protein sorting>gg> (VPS) pathway required for sorting>gg> ubiquitinated transmembrane proteins into internal vesicles of multivesicular bodies (Eastman et al., 2005 [PubMed 15509564]).[supplied by OMIM, Mar 2008]

VPS37B Gene

vacuolar protein sorting>gg> 37 homolog>gg> B (S. cerevisiae)

Enables calcium-dependent protein binding>gg> activity. Predicted to be involved in protein targ>gg>eting>gg> to membrane; protein targ>gg>eting>gg> to vacuole; and ubiquitin-dependent protein catabolic process via the multivesicular body sorting>gg> pathway. Located in endosome membrane; midbody; and plasma membrane. Part of ESCRT I complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

VPS37A Gene

vacuolar protein sorting>gg> 37 homolog>gg> A (S. cerevisiae)

This g>gg>ene belong>gg>s to the VPS37 family, and encodes a component of the ESCRT-I (endosomal sorting>gg> complex required for transport I) protein complex, required for the sorting>gg> of ubiquitinated transmembrane proteins into internal vesicles of multivesicular bodies. Expression of this g>gg>ene is downreg>gg>ulated in hepatocellular carcinoma, and mutations in this g>gg>ene are associated with autosomal recessive spastic parapleg>gg>ia-53. A related pseudog>gg>ene has been identified on chromosome 5. Alternatively spliced transcript variants have been found for this g>gg>ene. [provided by RefSeq, Dec 2012]

RPL13P5 Gene

ribosomal protein L13 pseudog>gg>ene 5

RPL13P4 Gene

ribosomal protein L13 pseudog>gg>ene 4

RPL13P7 Gene

ribosomal protein L13 pseudog>gg>ene 7

RPL13P6 Gene

ribosomal protein L13 pseudog>gg>ene 6

RPL13P2 Gene

ribosomal protein L13 pseudog>gg>ene 2

RPL13P9 Gene

ribosomal protein L13 pseudog>gg>ene 9

RPL13P8 Gene

ribosomal protein L13 pseudog>gg>ene 8

RBM8A Gene

RNA binding>gg> motif protein 8A

This g>gg>ene encodes a protein with a conserved RNA-binding>gg> motif. The protein is found predominantly in the nucleus, althoug>gg>h it is also present in the cytoplasm. It is preferentially associated with mRNAs produced by splicing>gg>, including>gg> both nuclear mRNAs and newly exported cytoplasmic mRNAs. It is thoug>gg>ht that the protein remains associated with spliced mRNAs as a tag>gg> to indicate where introns had been present, thus coupling>gg> pre- and post-mRNA splicing>gg> events. Previously, it was thoug>gg>ht that two g>gg>enes encode this protein, RBM8A and RBM8B; it is now thoug>gg>ht that the RBM8B locus is a pseudog>gg>ene. There are two alternate translation start codons with this g>gg>ene, which result in two forms of the protein. An allele mutation and a low-frequency noncoding>gg> sing>gg>le-nucleotide polymorphism (SNP) in this g>gg>ene cause thrombocytopenia-absent radius (TAR) syndrome. [provided by RefSeq, Jul 2013]

RBM8B Gene

RNA binding>gg> motif protein 8B pseudog>gg>ene

CASK Gene

calcium/calmodulin-dependent serine protein kinase (MAg>Gg>UK family)

This g>gg>ene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAg>Gg>UK (membrane-associated g>gg>uanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this g>gg>ene are associated with Fg>Gg> syndrome 4, intellectual disability and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked intellectual disability. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2017]

LOC101930168 Gene

putative aquaporin-7-like protein 3

RNF6P1 Gene

ring>gg> fing>gg>er protein (C3H2C3 type) 6 pseudog>gg>ene 1

KRTAP8-1 Gene

keratin associated protein 8-1

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF818P Gene

zinc fing>gg>er protein 818, pseudog>gg>ene

Predicted to enable DNA-binding>gg> transcription factor activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MRg>Gg>BP Gene

MRg>Gg>/MORF4L binding>gg> protein

Involved in positive reg>gg>ulation of double-strand break repair via homolog>gg>ous recombination and reg>gg>ulation of cell cycle. Located in nucleoplasm. Part of NuA4 histone acetyltransferase complex and nucleosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PROS2P Gene

protein S (beta) pseudog>gg>ene

CPTP Gene

ceramide-1-phosphate transfer protein

Enables ceramide 1-phosphate binding>gg> activity and ceramide 1-phosphate transfer activity. Involved in ceramide 1-phosphate transport; neg>gg>ative reg>gg>ulation of NLRP3 inflammasome complex assembly; and neg>gg>ative reg>gg>ulation of metabolic process. Located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC729915 Gene

putative POM121-like protein 1

LINC01384 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1384

RPL35A Gene

ribosomal protein L35a

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 60S subunit. The protein belong>gg>s to the L35AE family of ribosomal proteins. It is located in the cytoplasm. The rat protein has been shown to bind to both initiator and elong>gg>ator tRNAs, and thus, it is located at the P site, or P and A sites, of the ribosome. Althoug>gg>h this g>gg>ene was orig>gg>inally mapped to chromosome 18, it has been established that it is located at 3q29-qter. Alternative splicing>gg> results in multiple transcript variants. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Oct 2015]

LINC00587 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 587

LINC00581 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 581

LINC00582 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 582

LINC00583 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 583

LINC00588 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 588

LINC00589 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 589

LINC01189 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1189

PPP1R12A Gene

protein phosphatase 1, reg>gg>ulatory subunit 12A

Myosin phosphatase targ>gg>et subunit 1, which is also called the myosin-binding>gg> subunit of myosin phosphatase, is one of the subunits of myosin phosphatase. Myosin phosphatase reg>gg>ulates the interaction of actin and myosin downstream of the g>gg>uanosine triphosphatase Rho. The small g>gg>uanosine triphosphatase Rho is implicated in myosin lig>gg>ht chain (MLC) phosphorylation, which results in contraction of smooth muscle and interaction of actin and myosin in nonmuscle cells. The g>gg>uanosine triphosphate (g>Gg>TP)-bound, active form of RhoA (g>Gg>TP.RhoA) specifically interacted with the myosin-binding>gg> subunit (MBS) of myosin phosphatase, which reg>gg>ulates the extent of phosphorylation of MLC. Rho-associated kinase (Rho-kinase), which is activated by g>Gg>TP. RhoA, phosphorylated MBS and consequently inactivated myosin phosphatase. Overexpression of RhoA or activated RhoA in NIH 3T3 cells increased phosphorylation of MBS and MLC. Thus, Rho appears to inhibit myosin phosphatase throug>gg>h the action of Rho-kinase. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jan 2009]

PPP1R12B Gene

protein phosphatase 1, reg>gg>ulatory subunit 12B

Myosin phosphatase is a protein complex comprised of three subunits: a catalytic subunit (PP1c-delta, protein phosphatase 1, catalytic subunit delta), a larg>gg>e reg>gg>ulatory subunit (MYPT, myosin phosphatase targ>gg>et) and small reg>gg>ulatory subunit (sm-M20). Two isoforms of MYPT have been isolated--MYPT1 and MYPT2, the first of which is widely expressed, and the second of which may be specific to heart, skeletal muscle, and brain. Each of the MYPT isoforms functions to bind PP1c-delta and increase phosphatase activity. This locus encodes both MYTP2 and M20. Alternatively spliced transcript variants encoding>gg> different isoforms have been identified. Related pseudog>gg>enes have been defined on the Y chromosome. [provided by RefSeq, Oct 2011]

PPP1R12C Gene

protein phosphatase 1, reg>gg>ulatory subunit 12C

The g>gg>ene encodes a subunit of myosin phosphatase. The encoded protein reg>gg>ulates the catalytic activity of protein phosphatase 1 delta and assembly of the actin cytoskeleton. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Oct 2012]

LINC01183 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1183

LINC01182 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1182

LINC01181 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1181

LINC01187 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1187

LINC01186 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1186

LINC01185 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1185

LOC391230 Gene

KN motif and ankyrin repeat domain-containing>gg> protein 1-like

g>Gg>EMIN8P4 Gene

g>gg>em (nuclear org>gg>anelle) associated protein 8 pseudog>gg>ene 4

g>Gg>EMIN8P3 Gene

g>gg>em (nuclear org>gg>anelle) associated protein 8 pseudog>gg>ene 3

LOC105378722 Gene

protein arg>gg>onaute 1-like

VPS35 Gene

vacuolar protein sorting>gg> 35 homolog>gg> (S. cerevisiae)

This g>gg>ene belong>gg>s to a g>gg>roup of vacuolar protein sorting>gg> (VPS) g>gg>enes. The encoded protein is a component of a larg>gg>e multimeric complex, termed the retromer complex, involved in retrog>gg>rade transport of proteins from endosomes to the trans-g>Gg>olg>gg>i network. The close structural similarity between the yeast and human proteins that make up this complex sug>gg>g>gg>ests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. [provided by RefSeq, Jul 2008]

VPS36 Gene

vacuolar protein sorting>gg> 36 homolog>gg> (S. cerevisiae)

This g>gg>ene encodes a protein that is a subunit of the endosomal sorting>gg> complex required for transport II (ESCRT-II). This protein complex functions in sorting>gg> of ubiquitinated membrane proteins during>gg> endocytosis. A similar protein complex in rat is associated with RNA polymerase elong>gg>ation factor II. [provided by RefSeq, Aug>gg> 2013]

VPS39 Gene

vacuolar protein sorting>gg> 39 homolog>gg> (S. cerevisiae)

This g>gg>ene encodes a protein that may promote clustering>gg> and fusion of late endosomes and lysosomes. The protein may also act as an adaptor protein that modulates the transforming>gg> g>gg>rowth factor-beta response by coupling>gg> the transforming>gg> g>gg>rowth factor-beta g>receptorg> complex to the Smad pathway. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2014]

LINC-PINT Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA, p53 induced transcript

Involved in neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II. Located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CEP95 Gene

centrosomal protein 95kDa

Located in centrosome and spindle pole. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ESF1 Gene

ESF1, nucleolar pre-rRNA processing>gg> protein, homolog>gg> (S. cerevisiae)

Enables RNA binding>gg> activity. Predicted to be involved in rRNA processing>gg>. Located in extracellular space. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100128226 Gene

hypothetic protein

RPL15P17 Gene

ribosomal protein L15 pseudog>gg>ene 17

RPL15P15 Gene

ribosomal protein L15 pseudog>gg>ene 15

RPL15P12 Gene

ribosomal protein L15 pseudog>gg>ene 12

RPL15P11 Gene

ribosomal protein L15 pseudog>gg>ene 11

RPL15P19 Gene

ribosomal protein L15 pseudog>gg>ene

RPL15P18 Gene

ribosomal protein L15 pseudog>gg>ene 18

NEDD4L Gene

neural precursor cell expressed, developmentally down-reg>gg>ulated 4-like, E3 ubiquitin protein lig>gg>ase

This g>gg>ene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin lig>gg>ases. HECT domain E3 ubiquitin lig>gg>ases transfer ubiquitin from E2 ubiquitin-conjug>gg>ating>gg> enzymes to protein substrates, thus targ>gg>eting>gg> specific proteins for lysosomal deg>gg>radation. The encoded protein mediates the ubiquitination of multiple targ>gg>et substrates and plays a critical role in epithelial sodium transport by reg>gg>ulating>gg> the cell surface expression of the epithelial sodium channel, ENaC. Sing>gg>le nucleotide polymorphisms in this g>gg>ene may be associated with essential hypertension. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Mar 2012]

IFITM10 Gene

interferon induced transmembrane protein 10

Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL36AP25 Gene

ribosomal protein L36a pseudog>gg>ene 25

RPL36AP24 Gene

ribosomal protein L36a pseudog>gg>ene 24

RPL36AP27 Gene

ribosomal protein L36a pseudog>gg>ene 27

RPL36AP21 Gene

ribosomal protein L36a pseudog>gg>ene 21

RPL36AP28 Gene

ribosomal protein L36a pseudog>gg>ene 28

TARDBP Gene

TAR DNA binding>gg> protein

HIV-1, the causative ag>gg>ent of acquired immunodeficiency syndrome (AIDS), contains an RNA g>gg>enome that produces a chromosomally integ>gg>rated DNA during>gg> the replicative cycle. Activation of HIV-1 g>gg>ene expression by the transactivator Tat is dependent on an RNA reg>gg>ulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this g>gg>ene is a transcriptional repressor that binds to chromosomally integ>gg>rated TAR DNA and represses HIV-1 transcription. In addition, this protein reg>gg>ulates alternate splicing>gg> of the CFTR g>gg>ene. A similar pseudog>gg>ene is present on chromosome 20. [provided by RefSeq, Jul 2008]

TRAF3IP3 Gene

TRAF3 interacting>gg> protein 3

The g>gg>ene encodes a protein that mediates cell g>gg>rowth by modulating>gg> the c-Jun N-terminal kinase sig>gg>nal transduction pathway. The encoded protein may also interact with a larg>gg>e multi-protein assembly containing>gg> the phosphatase 2A catalytic subunit. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Dec 2013]

LINC00378 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 378

LOC102725250 Gene

putative uncharacterized protein DDB_g>Gg>0291608

ZNF886P Gene

zinc fing>gg>er protein 886, pseudog>gg>ene

TCN1 Gene

transcobalamin I (vitamin B12 binding>gg> protein, R binder family)

This g>gg>ene encodes a member of the vitamin B12-binding>gg> protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This protein is a major constituent of secondary g>gg>ranules in neutrophils and facilitates the transport of cobalamin into cells. [provided by RefSeq, Jul 2008]

LOC102723955 Gene

neuroblastoma breakpoint family member 6-like protein

ZNF33AP1 Gene

zinc fing>gg>er protein 33A pseudog>gg>ene 1

COPg>Gg>2IT1 Gene

COPg>Gg>2 imprinted transcript 1 (non-protein coding>gg>)

ZNF259P1 Gene

zinc fing>gg>er protein 259 pseudog>gg>ene 1

AHSP Gene

alpha hemog>gg>lobin stabilizing>gg> protein

This g>gg>ene encodes a molecular chaperone which binds specifically to free alpha-g>gg>lobin and is involved in hemog>gg>lobin assembly. The encoded protein binds to monomeric alpha-g>gg>lobin until it has been transferred to beta-g>gg>lobin to form a heterodimer, which in turn binds to another heterodimer to form the stable tetrameric hemog>gg>lobin. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Dec 2015]

TMEM213 Gene

transmembrane protein 213

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM210 Gene

transmembrane protein 210

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM215 Gene

transmembrane protein 215

Predicted to act upstream of or within neg>gg>ative reg>gg>ulation of retinal cell prog>gg>rammed cell death and sprouting>gg> ang>gg>iog>gg>enesis. Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC442389 Gene

interferon induced transmembrane protein pseudog>gg>ene

CAMK2N2 Gene

calcium/calmodulin-dependent protein kinase II inhibitor 2

This g>gg>ene encodes a protein that is hig>gg>hly similar to the rat CaM-KII inhibitory protein, an inhibitor of calcium/calmodulin-dependent protein kinase II (CAMKII). CAMKII reg>gg>ulates numerous physiolog>gg>ical functions, including>gg> neuronal synaptic plasticity throug>gg>h the phosphorylation of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid-type g>gg>lutamate (AMPA) g>receptorg>s. Studies of the similar protein in rat sug>gg>g>gg>est that this protein may function as a neg>gg>ative reg>gg>ulator of CaM-KII and may act to inhibit the phosphorylation of AMPA g>receptorg>s. [provided by RefSeq, Jul 2008]

CAMK2N1 Gene

calcium/calmodulin-dependent protein kinase II inhibitor 1

Predicted to enable calcium-dependent protein kinase inhibitor activity and protein kinase binding>gg> activity. Predicted to be involved in long>gg>-term memory and positive reg>gg>ulation of inflammatory response. Predicted to be located in neuronal cell body and synapse. Implicated in ovarian cancer; ovarian carcinoma; and prostate adenocarcinoma. Biomarker of hepatocellular carcinoma; oral squamous cell carcinoma; papillary thyroid carcinoma; and prostate cancer. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS3P6 Gene

ribosomal protein S3 pseudog>gg>ene 6

RPS3P7 Gene

ribosomal protein S3 pseudog>gg>ene 7

RPS3P4 Gene

ribosomal protein S3 pseudog>gg>ene 4

RPS3P5 Gene

ribosomal protein S3 pseudog>gg>ene 5

RPS3P2 Gene

ribosomal protein S3 pseudog>gg>ene 2

RPS3P3 Gene

ribosomal protein S3 pseudog>gg>ene 3

RPS3P1 Gene

ribosomal protein S3 pseudog>gg>ene 1

NPIPB5 Gene

nuclear pore complex interacting>gg> protein family, member B5

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS20P25 Gene

ribosomal protein S20 pseudog>gg>ene 25

DENR Gene

density-reg>gg>ulated protein

This g>gg>ene encodes a protein whose expression was found to increase in cultured cells at hig>gg>h density but not during>gg> g>gg>rowth arrest. This g>gg>ene was also shown to have increased expression in cells overexpressing>gg> HER-2/neu proto-oncog>gg>ene. The protein contains an SUI1 domain. In budding>gg> yeast, SUI1 is a translation initiation factor that along>gg> with eIF-2 and the initiator tRNA-Met, directs the ribosome to the proper translation start site. Proteins similar to SUI have been found in mammals, insects, and plants. [provided by RefSeq, Jul 2008]

ZNF165 Gene

zinc fing>gg>er protein 165

This g>gg>ene encodes a member of the Kruppel family of zinc fing>gg>er proteins. Members of this DNA-binding>gg> protein family act as transcriptional reg>gg>ulators. This g>gg>ene is located within a cluster of zinc fing>gg>er family members. The encoded protein may play a role in spermatog>gg>enesis. [provided by RefSeq, Jul 2008]

LOC100131411 Gene

zinc fing>gg>er protein 28 pseudog>gg>ene

LOC102723573 Gene

40S ribosomal protein S8 pseudog>gg>ene

LOC101928088 Gene

LYR motif-containing>gg> protein 5-like

LOC101929682 Gene

40S ribosomal protein S3a-like

CKAP2L Gene

cytoskeleton associated protein 2-like

The protein encoded by this g>gg>ene is thoug>gg>ht to be a mitotic spindle protein important to neural stem or prog>gg>enitor cells. Mutations in this g>gg>ene have been associated with spindle org>gg>anization defects, including>gg> mitotic spindle defects, lag>gg>g>gg>ing>gg> chromosomes, and chromatin bridg>gg>es. There is evidence that mutations in this g>gg>ene are associated with Filippi syndrome, characterized by g>gg>rowth defects, microcephaly, intellectual disability, facial feature defects, and syndactyly. There is a pseudog>gg>ene of this g>gg>ene on chromosome 20. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jan 2015]

CDCP1 Gene

CUB domain containing>gg> protein 1

This g>gg>ene encodes a transmembrane protein which contains three extracellular CUB domains and acts as a substrate for Src family kinases. The protein plays a role in the tyrosine phosphorylation-dependent reg>gg>ulation of cellular events that are involved in tumor invasion and metastasis. Alternative splicing>gg> results in multiple transcript variants of this g>gg>ene. [provided by RefSeq, May 2013]

CDCP2 Gene

CUB domain containing>gg> protein 2

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

YBX1P9 Gene

Y box binding>gg> protein 1 pseudog>gg>ene 9

YBX1P6 Gene

Y box binding>gg> protein 1 pseudog>gg>ene 6

YBX1P7 Gene

Y box binding>gg> protein 1 pseudog>gg>ene 7

IL18BP Gene

interleukin 18 binding>gg> protein

The protein encoded by this g>gg>ene functions as an inhibitor of the proinflammatory cytokine, IL18. It binds IL18, prevents the binding>gg> of IL18 to its g>receptorg>, and thus inhibits IL18-induced IFN-g>gg>amma production, resulting>gg> in reduced T-helper type 1 immune responses. This protein is constitutively expressed and secreted in mononuclear cells. Elevated level of this protein is detected in the intestinal tissues of patients with Crohn's disease. Alternatively spliced transcript variants encoding>gg> different isoforms have been described for this g>gg>ene. [provided by RefSeq, Feb 2011]

YBX1P3 Gene

Y box binding>gg> protein 1 pseudog>gg>ene 3

YBX1P1 Gene

Y box binding>gg> protein 1 pseudog>gg>ene 1

LOC101929355 Gene

uncharacterized protein C17orf105-like

LOC158781 Gene

tyrosine 3-monooxyg>gg>enase/tryptophan 5-monooxyg>gg>enase activation protein, zeta polypeptide pseudog>gg>ene

MARCKSP1 Gene

myristoylated alanine-rich protein kinase C substrate pseudog>gg>ene 1

RBX1 Gene

ring>gg>-box 1, E3 ubiquitin protein lig>gg>ase

This locus encodes a RINg>Gg> fing>gg>er-like domain-containing>gg> protein. The encoded protein interacts with cullin proteins and likely plays a role in ubiquitination processes necessary for cell cycle prog>gg>ression. This protein may also affect protein turnover. Related pseudog>gg>enes exist on chromosomes 2 and 5.[provided by RefSeq, Sep 2010]

RPL17P21 Gene

ribosomal protein L17 pseudog>gg>ene 21

LINC01119 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1119

LOC100419896 Gene

zinc fing>gg>er protein 267 pseudog>gg>ene

LOC100419894 Gene

zinc fing>gg>er protein 347 pseudog>gg>ene

LOC100419895 Gene

zinc fing>gg>er protein 670 pseudog>gg>ene

LOC100419892 Gene

zinc fing>gg>er protein 592 pseudog>gg>ene

CDYL2 Gene

chromodomain protein, Y-like 2

Predicted to enable transcription corepressor activity. Predicted to be involved in neg>gg>ative reg>gg>ulation of DNA-templated transcription. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100419891 Gene

zinc fing>gg>er protein 114 pseudog>gg>ene

KRTAP9-8 Gene

keratin associated protein 9-8

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal reg>gg>ions and are subdivided into three multi-g>gg>ene families according>gg> to amino acid composition: the hig>gg>h sulfur, the ultrahig>gg>h sulfur, and the hig>gg>h tyrosine/g>gg>lycine KAPs. This protein is a member of the ultrahig>gg>h sulfur KAP family and the g>gg>ene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

KRTAP9-9 Gene

keratin associated protein 9-9

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal reg>gg>ions and are subdivided into three multi-g>gg>ene families according>gg> to amino acid composition: the hig>gg>h sulfur, the ultrahig>gg>h sulfur, and the hig>gg>h tyrosine/g>gg>lycine KAPs. This protein is a member of the ultrahig>gg>h sulfur KAP family and the g>gg>ene is localized to a cluster of KAPs at 17q12-q21. Alternative haplotypes of this g>gg>ene are represented in the g>Gg>RCh38 reference g>gg>enome assembly. [provided by RefSeq, Dec 2015]

KRTAP9-1 Gene

keratin associated protein 9-1

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP9-2 Gene

keratin associated protein 9-2

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal reg>gg>ions and are subdivided into three multi-g>gg>ene families according>gg> to amino acid composition: the hig>gg>h sulfur, the ultrahig>gg>h sulfur, and the hig>gg>h tyrosine/g>gg>lycine KAPs. This protein is a member of the ultrahig>gg>h sulfur KAP family and the g>gg>ene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

KRTAP9-3 Gene

keratin associated protein 9-3

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal reg>gg>ions and are subdivided into three multi-g>gg>ene families according>gg> to amino acid composition: the hig>gg>h sulfur, the ultrahig>gg>h sulfur, and the hig>gg>h tyrosine/g>gg>lycine KAPs. This protein is a member of the ultrahig>gg>h sulfur KAP family and the g>gg>ene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

KRTAP9-4 Gene

keratin associated protein 9-4

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal reg>gg>ions and are subdivided into three multi-g>gg>ene families according>gg> to amino acid composition: the hig>gg>h sulfur, the ultrahig>gg>h sulfur, and the hig>gg>h tyrosine/g>gg>lycine KAPs. This protein is a member of the ultrahig>gg>h sulfur KAP family and the g>gg>ene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

KRTAP9-6 Gene

keratin associated protein 9-6

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP9-7 Gene

keratin associated protein 9-7

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

DTNBP1 Gene

dystrobrevin binding>gg> protein 1

This g>gg>ene encodes a protein that may play a role in org>gg>anelle biog>gg>enesis associated with melanosomes, platelet dense g>gg>ranules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biog>gg>enesis of lysosome-related org>gg>anelles complex 1 (BLOC-1), and binds to alpha- and beta-dystrobrevins, which are components of the dystrophin-associated protein complex (DPC). Mutations in this g>gg>ene are associated with Hermansky-Pudlak syndrome type 7. This g>gg>ene may also be associated with schizophrenia. Multiple transcript variants encoding>gg> distinct isoforms have been identified for this g>gg>ene. [provided by RefSeq, Jul 2008]

FLJ32154 Gene

uncharacterized protein FLJ32154

LOC100130403 Gene

replication protein A3, 14kDa pseudog>gg>ene

RPL19P14 Gene

ribosomal protein L19 pseudog>gg>ene 14

ZNF404 Gene

zinc fing>gg>er protein 404

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RNF126P1 Gene

ring>gg> fing>gg>er protein 126 pseudog>gg>ene 1

ZNF407 Gene

zinc fing>gg>er protein 407

This g>gg>ene encodes a zinc fing>gg>er protein whose exact function is not known. It may be involved in transcriptional reg>gg>ulation. Several alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Sep 2009]

ZNF408 Gene

zinc fing>gg>er protein 408

The protein encoded by this g>gg>ene contains ten tandem zinc fing>gg>ers and an N-terminal SET domain, so it is likely a DNA binding>gg> protein that interacts with other proteins. In adults, the encoded protein is expressed most hig>gg>hly in retina. Consequently, defects in this g>gg>ene have been associated with familial exudative vitreoretinopathy (FEVR) and retinitis pig>gg>mentosa (RP). [provided by RefSeq, Dec 2016]

LINC01578 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1578

Predicted to be involved in several processes, including>gg> adipose tissue development; reg>gg>ulation of g>gg>ene expression; and thymus development. Predicted to be active in chromatin and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC01579 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1579

LINC01574 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1574

LINC01572 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1572

LINC01573 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1573

LINC01570 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1570

LINC01571 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1571

PPP6R2 Gene

protein phosphatase 6, reg>gg>ulatory subunit 2

The protein encoded by this g>gg>ene is a reg>gg>ulatory protein for the protein phosphatase-6 catalytic subunit. Tog>gg>ether, these proteins act as a sig>gg>nificant T-loop phosphatase for Aurora A, an essential mitotic kinase. Loss of function of either the reg>gg>ulatory or catalytic subunit of protein phosphatase-6 interferes with spindle formation and chromosome alig>gg>nment. [provided by RefSeq, May 2017]

PPP6R3 Gene

protein phosphatase 6, reg>gg>ulatory subunit 3

Protein phosphatase reg>gg>ulatory subunits, such as SAPS3, modulate the activity of protein phosphatase catalytic subunits by restricting>gg> substrate specificity, recruiting>gg> substrates, and determining>gg> the intracellular localization of the holoenzyme. SAPS3 is a reg>gg>ulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautig>gg>an, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010]

PPP6R1 Gene

protein phosphatase 6, reg>gg>ulatory subunit 1

Protein phosphatase reg>gg>ulatory subunits, such as SAPS1, modulate the activity of protein phosphatase catalytic subunits by restricting>gg> substrate specificity, recruiting>gg> substrates, and determining>gg> the intracellular localization of the holoenzyme. SAPS1 is a reg>gg>ulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautig>gg>an, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010]

LOC100420534 Gene

Rho g>Gg>TPase activating>gg> protein 20 pseudog>gg>ene

LOC100420539 Gene

FK506 binding>gg> protein 10, 65 kDa pseudog>gg>ene

LOC266683 Gene

dendritic cell protein pseudog>gg>ene

LINC01398 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1398

LINC01399 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1399

LINC01392 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1392

LINC01393 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1393

LINC01391 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1391

LINC01396 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1396

LINC01397 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1397

LINC01395 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1395

LINC00621 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 621

LINC00620 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 620

LINC00623 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 623

LINC00624 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 624

LINC00626 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 626

LINC00629 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 629

LINC00628 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 628

RPL39P40 Gene

ribosomal protein L39 pseudog>gg>ene 40

RPL39P41 Gene

ribosomal protein L39 pseudog>gg>ene 41

LETM1 Gene

leucine zipper-EF-hand containing>gg> transmembrane protein 1

This g>gg>ene encodes a protein that is localized to the inner mitochondrial membrane. The protein functions to maintain the mitochondrial tubular shapes and is required for normal mitochondrial morpholog>gg>y and cellular viability. Mutations in this g>gg>ene cause Wolf-Hirschhorn syndrome, a complex malformation syndrome caused by the deletion of parts of the distal short arm of chromosome 4. Related pseudog>gg>enes have been identified on chromosomes 8, 15 and 19. [provided by RefSeq, Oct 2009]

LOC101927160 Gene

putative uncharacterized protein FLJ46235

LOC100128108 Gene

putative ubiquitin-conjug>gg>ating>gg> enzyme E2Q2-like protein

LOC100421248 Gene

siah E3 ubiquitin protein lig>gg>ase family member 3 pseudog>gg>ene

LOC105377825 Gene

putative protein FAM157B

EFEMP1 Gene

Eg>Gg>F containing>gg> fibulin-like extracellular matrix protein 1

This g>gg>ene encodes a member of the fibulin family of extracellular matrix g>gg>lycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal g>gg>rowth factor-like repeats followed by a C-terminus fibulin-type domain. This g>gg>ene is upreg>gg>ulated in malig>gg>nant g>gg>liomas and may play a role in the ag>gg>g>gg>ressive nature of these tumors. Mutations in this g>gg>ene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009]

EFEMP2 Gene

Eg>Gg>F containing>gg> fibulin-like extracellular matrix protein 2

A larg>gg>e number of extracellular matrix proteins have been found to contain variations of the epidermal g>gg>rowth factor (Eg>Gg>F) domain and have been implicated in functions as diverse as blood coag>gg>ulation, activation of complement and determination of cell fate during>gg> development. The protein encoded by this g>gg>ene contains four Eg>Gg>F2 domains and six calcium-binding>gg> Eg>Gg>F2 domains. This g>gg>ene is necessary for elastic fiber formation and connective tissue development. Defects in this g>gg>ene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this g>gg>ene. [provided by RefSeq, Jan 2011]

MTPN-LUZP6 Gene

myotrophin, leucine zipper protein 6 transcription unit

A bi-cistronic transcript encodes the products of both the myotrophin and leucine zipper protein 6 g>gg>enes, which are located on chromosome 7. A cryptic ORF at the 3' end of the myotrophin transcript uses a novel internal ribosome entry site and a non-AUg>Gg> translation initiation codon to produce leucine zipper protein 6, a 6.4 kDa tumor antig>gg>en. [provided by RefSeq, Jul 2008]

APLP1 Gene

amyloid beta (A4) precursor-like protein 1

This g>gg>ene encodes a member of the hig>gg>hly conserved amyloid precursor protein g>gg>ene family. The encoded protein is a membrane-associated g>gg>lycoprotein that is cleaved by secretases in a manner similar to amyloid beta A4 precursor protein cleavag>gg>e. This cleavag>gg>e liberates an intracellular cytoplasmic frag>gg>ment that may act as a transcriptional activator. The encoded protein may also play a role in synaptic maturation during>gg> cortical development. Alternatively spliced transcript variants encoding>gg> different isoforms have been described. [provided by RefSeq, Jul 2008]

LOC643168 Gene

Rho g>Gg>TPase activating>gg> protein 5 pseudog>gg>ene

LOC643167 Gene

RNA binding>gg> motif protein 39 pseudog>gg>ene

TSPY9P Gene

testis specific protein, Y-linked 9, pseudog>gg>ene

Predicted to enable chromatin binding>gg> activity and histone binding>gg> activity. Predicted to be involved in several processes, including>gg> g>gg>onadal mesoderm development; nucleosome assembly; and spermatog>gg>enesis. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS27P23 Gene

ribosomal protein S27 pseudog>gg>ene 23

LOC646071 Gene

disinteg>gg>rin and metalloproteinase domain-containing>gg> protein 21-like

LOC101928242 Gene

cell cycle control protein 50B-like

BUB3P1 Gene

BUB3 mitotic checkpoint protein pseudog>gg>ene 1

LOC646696 Gene

MLX, MAX dimerization protein pseudog>gg>ene

FLJ33360 Gene

FLJ33360 protein

RPS15AP27 Gene

ribosomal protein S15a pseudog>gg>ene 27

RPS15AP26 Gene

ribosomal protein S15a pseudog>gg>ene 26

RPS15AP25 Gene

ribosomal protein S15a pseudog>gg>ene 25

RPS15AP24 Gene

ribosomal protein S15a pseudog>gg>ene 24

RPS15AP23 Gene

ribosomal protein S15a pseudog>gg>ene 23

RPS15AP22 Gene

ribosomal protein S15a pseudog>gg>ene 22

RPS15AP21 Gene

ribosomal protein S15a pseudog>gg>ene 21

RPS15AP20 Gene

ribosomal protein S15a pseudog>gg>ene 20

RPS15AP29 Gene

ribosomal protein S15a pseudog>gg>ene 29

RPS15AP28 Gene

ribosomal protein S15a pseudog>gg>ene 28

KIAA1654 Gene

KIAA1654 protein

KIAA1656 Gene

KIAA1656 protein

KIAA1652 Gene

KIAA1652 protein

LOC102723852 Gene

translationally-controlled tumor protein pseudog>gg>ene

WRB Gene

tryptophan rich basic protein

This g>gg>ene is located in the candidate reg>gg>ion for cong>gg>enital heart disease (CHD) in Down syndrome (DS). It encodes a basic protein that functions as a g>receptorg> that promotes insertion of tail-anchored proteins in the endoplasmic reticulum membrane. This g>gg>ene is located at a maternally-methylated differentially methylated reg>gg>ion (DMR); however, its transcription may be biallelic, not imprinted. Alternative splicing>gg> results in different transcript variants. A pseudog>gg>ene has been defined on chromosome 4. [provided by RefSeq, Apr 2017]

LOC105371128 Gene

serine/threonine-protein kinase SMg>Gg>1-like

LOC388248 Gene

Rho g>Gg>TPase activating>gg> protein 23 pseudog>gg>ene

LOC101930080 Gene

g>Gg>PS, PLAT and transmembrane domain-containing>gg> protein FLJ00285-like

LOC101927402 Gene

uncharacterized proline-rich protein-like

LOC613037 Gene

nuclear pore complex interacting>gg> protein pseudog>gg>ene

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

Sg>Gg>IP1 Gene

SH3-domain g>Gg>RB2-like (endophilin) interacting>gg> protein 1

Sg>Gg>IP1 functions as an endocytic protein that affects sig>gg>naling>gg> by g>receptorg>s in neuronal systems involved in energ>gg>y homeostasis via its interaction with endophilins (see SH3g>Gg>L3; MIM 603362) (Trevaskis et al., 2005 [PubMed 15919751] and Uezu et al., 2007 [PubMed 17626015]).[supplied by OMIM, Mar 2008]

TMEM88 Gene

transmembrane protein 88

Predicted to enable PDZ domain binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of canonical Wnt sig>gg>naling>gg> pathway; protein localization to plasma membrane; and protein stabilization. Located in cytosol and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM81 Gene

transmembrane protein 81

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM80 Gene

transmembrane protein 80

Predicted to be involved in non-motile cilium assembly. Predicted to be located in cilium and membrane. Predicted to be active in ciliary transition zone. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM8A Gene

transmembrane protein 8A

Predicted to enable calcium-dependent phospholipase A2 activity and calcium-independent phospholipase A2 activity. Predicted to be involved in lipid metabolic process. Located in extracellular exosome and lysosomal membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM8C Gene

transmembrane protein 8C

Involved in myoblast fusion. Located in plasma membrane. Implicated in Carey-Fineman-Ziter syndrome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM8B Gene

transmembrane protein 8B

Involved in cell-matrix adhesion. Located in cell surface and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105369359 Gene

40S ribosomal protein S24 pseudog>gg>ene

PRC1 Gene

protein reg>gg>ulator of cytokinesis 1

This g>gg>ene encodes a protein that is involved in cytokinesis. The protein is present at hig>gg>h levels during>gg> the S and g>Gg>2/M phases of mitosis but its levels drop dramatically when the cell exits mitosis and enters the g>Gg>1 phase. It is located in the nucleus during>gg> interphase, becomes associated with mitotic spindles in a hig>gg>hly dynamic manner during>gg> mitosis, and localizes to the cell mid-body during>gg> cytokinesis. This protein has been shown to be a substrate of several cyclin-dependent kinases (CDKs). It is necessary for polarizing>gg> parallel microtubules and concentrating>gg> the factors responsible for contractile ring>gg> assembly. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jun 2012]

ZNF648 Gene

zinc fing>gg>er protein 648

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF649 Gene

zinc fing>gg>er protein 649

Predicted to enable DNA-binding>gg> transcription factor activity and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of osteoblast differentiation and reg>gg>ulation of transcription by RNA polymerase II. Predicted to act upstream of or within neg>gg>ative reg>gg>ulation of DNA-templated transcription. Located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF646 Gene

zinc fing>gg>er protein 646

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF644 Gene

zinc fing>gg>er protein 644

The protein encoded by this g>gg>ene is a zinc fing>gg>er transcription factor that may play a role in eye development. Defects in this g>gg>ene have been associated with hig>gg>h myopia. Three transcript variants encoding>gg> two different isoforms have been found for this g>gg>ene. [provided by RefSeq, Aug>gg> 2011]

ZNF645 Gene

zinc fing>gg>er protein 645

This g>gg>ene encodes a member of the zinc fing>gg>er domain-containing>gg> protein family. This family member contains both a RINg>Gg>-type and a C2H2-type of zinc fing>gg>er domain, and it may function as an E3 ubiquitin-protein lig>gg>ase. Protein localization sug>gg>g>gg>ests a role in human sperm production and quality control. [provided by RefSeq, Aug>gg> 2011]

CREB5 Gene

cAMP responsive element binding>gg> protein 5

The product of this g>gg>ene belong>gg>s to the CRE (cAMP response element)-binding>gg> protein family. Members of this family contain zinc-fing>gg>er and bZIP DNA-binding>gg> domains. The encoded protein specifically binds to CRE as a homodimer or a heterodimer with c-Jun or CRE-BP1, and functions as a CRE-dependent trans-activator. Alternatively spliced transcript variants encoding>gg> different isoforms have been identified. [provided by RefSeq, Jul 2008]

ZNF641 Gene

zinc fing>gg>er protein 641

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Located in cytosol; nucleolus; and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>TPBP10 Gene

g>Gg>TP-binding>gg> protein 10 (putative)

Small g>Gg> proteins, such as g>Gg>TPBP10, act as molecular switches that play crucial roles in the reg>gg>ulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking>gg>, and sig>gg>nal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM, Mar 2008]

CREB3 Gene

cAMP responsive element binding>gg> protein 3

This g>gg>ene encodes a transcription factor that is a member of the leucine zipper family of DNA binding>gg> proteins. This protein binds to the cAMP-response element and reg>gg>ulates cell proliferation. The protein interacts with host cell factor C1, which also associates with the herpes simplex virus (HSV) protein VP16 that induces transcription of HSV immediate-early g>gg>enes. This protein and VP16 both bind to the same site on host cell factor C1. It is thoug>gg>ht that the interaction between this protein and host cell factor C1 plays a role in the establishment of latency during>gg> HSV infection. This protein also plays a role in leukocyte mig>gg>ration, tumor suppression, and endoplasmic reticulum stress-associated protein deg>gg>radation. Additional transcript variants have been identified, but their biolog>gg>ical validity has not been determined.[provided by RefSeq, Nov 2009]

ZNF398 Gene

zinc fing>gg>er protein 398

This g>gg>ene encodes a member of the Kruppel family of C2H2-type zinc-fing>gg>er transcription factor proteins. The encoded protein acts as a transcriptional activator. Two transcript variants encoding>gg> distinct isoforms have been identified for this g>gg>ene. Other transcript variants have been described, but their full leng>gg>th sequence has not been determined. [provided by RefSeq, Jul 2008]

ZNF391 Gene

zinc fing>gg>er protein 391

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF394 Gene

zinc fing>gg>er protein 394

The protein encoded by this g>gg>ene is a zinc fing>gg>er protein that inhibits the transcription of mitog>gg>en-activated protein kinase sig>gg>naling>gg> pathways. The encoded protein may be involved in cardiac function. [provided by RefSeq, Sep 2016]

ZNF395 Gene

zinc fing>gg>er protein 395

Enables DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Involved in positive reg>gg>ulation of transcription by RNA polymerase II. Located in cytosol and nuclear speck. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF396 Gene

zinc fing>gg>er protein 396

Enables protein heterodimerization activity; protein homodimerization activity; and sequence-specific double-stranded DNA binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of DNA-templated transcription. Located in cytoplasm and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF397 Gene

zinc fing>gg>er protein 397

This g>gg>ene encodes a protein with a N-terminal SCAN domain, and the long>gg>er isoform contains nine C2H2-type zinc fing>gg>er repeats in the C-terminal domain. The protein localizes to centromeres during>gg> interphase and early prophase, and different isoforms can repress or activate transcription in transfection studies. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. Additional variants have been described, but their biolog>gg>ical validity has not been determined. [provided by RefSeq, Oct 2009]

RPSAP22 Gene

ribosomal protein SA pseudog>gg>ene 22

g>Gg>DAP1L1 Gene

g>gg>ang>gg>lioside induced differentiation associated protein 1-like 1

The g>gg>ang>gg>lioside g>Gg>D3 synthase causes cell differentiation with neurite sprouting>gg> when transfected into the mouse neuroblastoma cell line Neuro2a. After differentiation, the expression of several g>gg>enes is upreg>gg>ulated, including>gg> one that encodes a protein termed g>gg>ang>gg>lioside-induced differentiation-associated protein 1 (g>Gg>dap1). A similar g>gg>ene was found in humans, and mutations in the human g>gg>ene are associated with Charcot-Marie-Tooth type 4A disease. The protein encoded by this g>gg>ene is similar in sequence to the human g>Gg>DAP1 protein. Several transcript variants encoding>gg> different isoforms, as well as a noncoding>gg> transcript variant, have been found for this g>gg>ene. [provided by RefSeq, Feb 2012]

PCMTD1P1 Gene

protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing>gg> 1 pseudog>gg>ene 1

PCMTD1P2 Gene

protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing>gg> 1 pseudog>gg>ene 2

CENPCP1 Gene

centromere protein C pseudog>gg>ene 1

VWC2L Gene

von Willebrand factor C domain containing>gg> protein 2-like

Predicted to be involved in neg>gg>ative reg>gg>ulation of BMP sig>gg>naling>gg> pathway. Predicted to act upstream of or within positive reg>gg>ulation of neuron differentiation. Predicted to be located in extracellular reg>gg>ion and synapse. Predicted to be part of AMPA g>gg>lutamate g>receptorg> complex. Predicted to be active in extracellular space. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100652931 Gene

RNA binding>gg> motif protein, Y-linked, family 1, member A1 pseudog>gg>ene

LINC00265-2P Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 265-2, pseudog>gg>ene

LINC00869 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 869

LINC00868 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 868

LINC00867 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 867

LINC00866 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 866

Ig>Gg>F2BP1 Gene

insulin-like g>gg>rowth factor 2 mRNA binding>gg> protein 1

This g>gg>ene encodes a member of the insulin-like g>gg>rowth factor 2 mRNA-binding>gg> protein family. The protein encoded by this g>gg>ene contains four K homolog>gg>y domains and two RNA recog>gg>nition motifs. It functions by binding>gg> to the mRNAs of certain g>gg>enes, including>gg> insulin-like g>gg>rowth factor 2, beta-actin and beta-transducin repeat-containing>gg> protein, and reg>gg>ulating>gg> their translation. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, May 2009]

Ig>Gg>F2BP2 Gene

insulin-like g>gg>rowth factor 2 mRNA binding>gg> protein 2

This g>gg>ene encodes a protein that binds the 5' UTR of insulin-like g>gg>rowth factor 2 (Ig>Gg>F2) mRNA and reg>gg>ulates its translation. It plays an important role in metabolism and variation in this g>gg>ene is associated with susceptibility to diabetes. Alternative splicing>gg> and promoter usag>gg>e results in multiple transcript variants. Related pseudog>gg>enes are found on several chromosomes. [provided by RefSeq, Sep 2016]

LINC01180 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1180

ZFP36 Gene

ZFP36 ring>gg> fing>gg>er protein

Enables several functions, including>gg> 14-3-3 protein binding>gg> activity; heat shock protein binding>gg> activity; and mRNA 3'-UTR AU-rich reg>gg>ion binding>gg> activity. Involved in several processes, including>gg> cellular response to cytokine stimulus; cellular response to epidermal g>gg>rowth factor stimulus; and reg>gg>ulation of g>gg>ene expression. Acts upstream of or within mRNA catabolic process. Located in cytoplasmic ribonucleoprotein g>gg>ranule; cytosol; and nucleus. Part of ribonucleoprotein complex. Biomarker of breast cancer. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZFP37 Gene

ZFP37 zinc fing>gg>er protein

This g>gg>ene encodes a transcription factor that belong>gg>s to a larg>gg>e family of zinc fing>gg>er proteins. A similar protein in mouse is thoug>gg>ht to play a role in reg>gg>ulating>gg> the structures of the nucleolus and centromere in neurons. Alternate splicing>gg> results in multiple transcript variants. [provided by RefSeq, Sep 2013]

ZFP30 Gene

ZFP30 zinc fing>gg>er protein

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100129375 Gene

ring>gg> fing>gg>er protein 14 pseudog>gg>ene

LINC01184 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1184

RPS25P1 Gene

ribosomal protein S25 pseudog>gg>ene 1

RPS25P3 Gene

ribosomal protein S25 pseudog>gg>ene 3

RPS25P2 Gene

ribosomal protein S25 pseudog>gg>ene 2

RPS25P4 Gene

ribosomal protein S25 pseudog>gg>ene 4

RPS25P7 Gene

ribosomal protein S25 pseudog>gg>ene 7

RPS25P9 Gene

ribosomal protein S25 pseudog>gg>ene 9

RPS25P8 Gene

ribosomal protein S25 pseudog>gg>ene 8

LINC00936 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 936

PPP1R26P1 Gene

protein phosphatase 1, reg>gg>ulatory subunit 26 pseudog>gg>ene 1

LOC100422324 Gene

capping>gg> protein (actin filament) muscle Z-line, alpha 1 pseudog>gg>ene

RBBP4P2 Gene

retinoblastoma binding>gg> protein 4 pseudog>gg>ene 2

g>Gg>EMIN8P1 Gene

g>gg>em (nuclear org>gg>anelle) associated protein 8 pseudog>gg>ene 1

ZNF774 Gene

zinc fing>gg>er protein 774

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100128772 Gene

proline-rich protein 3 pseudog>gg>ene

RANBP10 Gene

RAN binding>gg> protein 10

RAN is a small g>Gg>TPase involved in the assembly of microtubules to form mitotic spindles. The protein encoded by this g>gg>ene is a cytoplasmic g>gg>uanine nucleotide exchang>gg>e factor (g>Gg>EF) that binds beta-tubulin and has g>Gg>EF activity toward RAN. The encoded protein plays a role in the formation of noncentrosomal microtubules. In addition, this protein may be involved in the reg>gg>ulation of D(1) g>receptorg> sig>gg>naling>gg> by protein kinase C delta and protein kinase C g>gg>amma. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Feb 2016]

RANBP17 Gene

RAN binding>gg> protein 17

The transport of protein and larg>gg>e RNAs throug>gg>h the nuclear pore complexes (NPC) is an energ>gg>y-dependent and reg>gg>ulated process. The import of proteins with a nuclear localization sig>gg>nal (NLS) is accomplished by recog>gg>nition of one or more clusters of basic amino acids by the importin-alpha/beta complex; see MIM 600685 and MIM 602738. The small g>Gg>TPase RAN (MIM 601179) plays a key role in NLS-dependent protein import. RAN-binding>gg> protein-17 is a member of the importin-beta superfamily of nuclear transport g>receptorg>s.[supplied by OMIM, Jul 2002]

SELENBP1 Gene

selenium binding>gg> protein 1

This g>gg>ene encodes a member of the selenium-binding>gg> protein family. Selenium is an essential nutrient that exhibits potent anticarcinog>gg>enic properties, and deficiency of selenium may cause certain neurolog>gg>ic diseases. The effects of selenium in preventing>gg> cancer and neurolog>gg>ic diseases may be mediated by selenium-binding>gg> proteins, and decreased expression of this g>gg>ene may be associated with several types of cancer. The encoded protein may play a selenium-dependent role in ubiquitination/deubiquitination-mediated protein deg>gg>radation. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Apr 2012]

ZNF542P Gene

zinc fing>gg>er protein 542, pseudog>gg>ene

Predicted to enable DNA-binding>gg> transcription factor activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105370929 Gene

homeobox protein Hox-D11-like

COPB1 Gene

coatomer protein complex, subunit beta 1

This g>gg>ene encodes a protein subunit of the coatomer complex associated with non-clathrin coated vesicles. The coatomer complex, also known as the coat protein complex 1, forms in the cytoplasm and is recruited to the g>Gg>olg>gg>i by activated g>gg>uanosine triphosphatases. Once at the g>Gg>olg>gg>i membrane, the coatomer complex may assist in the movement of protein and lipid components back to the endoplasmic reticulum. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]

COPB2 Gene

coatomer protein complex, subunit beta 2 (beta prime)

The g>Gg>olg>gg>i coatomer complex (see MIM 601924) constitutes the coat of nonclathrin-coated vesicles and is essential for g>Gg>olg>gg>i budding>gg> and vesicular trafficking>gg>. It consists of 7 protein subunits, including>gg> COPB2.[supplied by OMIM, Jul 2002]

PSTPIP2 Gene

proline-serine-threonine phosphatase interacting>gg> protein 2

Predicted to enable actin filament binding>gg> activity. Predicted to be involved in actin filament polymerization. Predicted to be located in cytoskeleton; cytosol; and membrane. Predicted to be active in actin filament; cytoplasm; and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PSTPIP1 Gene

proline-serine-threonine phosphatase interacting>gg> protein 1

This g>gg>ene encodes a cytoskeletal protein that is hig>gg>hly expressed in hemopoietic tissues. This protein functions via its interaction with several different proteins involved in cytoskeletal org>gg>anization and inflammatory processes. It binds to the cytoplasmic tail of CD2, an effector of T cell activation and adhesion, downreg>gg>ulating>gg> CD2-trig>gg>g>gg>ered adhesion. It binds PEST-type protein tyrosine phosphatases (PTP) and directs them to c-Abl kinase to mediate c-Abl dephosphorylation, thereby, reg>gg>ulating>gg> c-Abl activity. It also interacts with pyrin, which is found in association with the cytoskeleton in myeloid/monocytic cells and modulates immunoreg>gg>ulatory functions. Mutations in this g>gg>ene are associated with PAPA (pyog>gg>enic sterile arthritis, pyoderma g>gg>ang>gg>renosum, and acne) syndrome. It is hypothesized that the disease-causing>gg> mutations compromise physiolog>gg>ic sig>gg>naling>gg> necessary for the maintenance of a proper inflammatory response. [provided by RefSeq, Mar 2016]

POFUT2 Gene

protein O-fucosyltransferase 2

Fucose is typically found as a terminal modification of branched chain g>gg>lycoconjug>gg>ates, but it also exists in direct O-linkag>gg>e to serine or threonine residues within cystine knot motifs in epidermal g>gg>rowth factor (Eg>Gg>F; MIM 131530)-like repeats or thrombospondin (THBS; see MIM 188060) type-1 repeats. POFUT2 is an O-fucosyltransferase that use THBS type-1 repeats as substrates (Luo et al., 2006 [PubMed 16464857]).[supplied by OMIM, Mar 2008]

POFUT1 Gene

protein O-fucosyltransferase 1

This g>gg>ene encodes a member of the g>gg>lycosyltransferase O-Fuc family. This enzyme adds O-fucose throug>gg>h an O-g>gg>lycosidic linkag>gg>e to conserved serine or threonine residues in the epidermal g>gg>rowth factor-like repeats of a number of cell surface and secreted proteins. O-fucose g>gg>lycans are involved in lig>gg>and-induced g>receptorg> sig>gg>naling>gg>. Alternative splicing>gg> of this g>gg>ene results in two transcript variants encoding>gg> different isoforms. [provided by RefSeq, Jul 2008]

CCAT2 Gene

colon cancer associated transcript 2 (non-protein coding>gg>)

This g>gg>ene produces a long>gg> non-coding>gg> RNA that is upreg>gg>ulated in colon cancer and other cancers. This transcript promotes cell proliferation and suppresses apoptosis. It neg>gg>atively reg>gg>ulates the biog>gg>enesis of microRNA 145. [provided by RefSeq, Dec 2017]

RPL13P11 Gene

ribosomal protein L13 pseudog>gg>ene 11

RPL13P10 Gene

ribosomal protein L13 pseudog>gg>ene 10

TMEM87B Gene

transmembrane protein 87B

This g>gg>ene encodes a protein that may interact with human papillomavirus type 18 E6 oncog>gg>ene. The protein is also likely to be involved in endosome-to-trans-g>Gg>olg>gg>i network retrog>gg>rade transport. The g>gg>ene is expressed in adult and fetal tissues, including>gg> brain and heart. This g>gg>ene is a component of the 2q13 deletion syndrome. Mutations in this g>gg>ene may be associated with cong>gg>enital heart defects. [provided by RefSeq, Aug>gg> 2016]

TMEM87A Gene

transmembrane protein 87A

Involved in cellular response to mechanical stimulus and detection of mechanical stimulus involved in sensory perception of touch. Acts upstream of or within retrog>gg>rade transport, endosome to g>Gg>olg>gg>i. Located in g>Gg>olg>gg>i cisterna membrane; plasma membrane; and ruffle. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00470 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 470

ZNF619 Gene

zinc fing>gg>er protein 619

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00472 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 472

LINC00473 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 473

Involved in DNA-templated transcription. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00474 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 474

LINC00475 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 475

LINC00476 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 476

LINC00477 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 477

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00479 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 479

MAP4K1 Gene

mitog>gg>en-activated protein kinase kinase kinase kinase 1

Enables ATP binding>gg> activity and MAP kinase kinase kinase kinase activity. Involved in several processes, including>gg> JNK cascade; cellular response to phorbol 13-acetate 12-myristate; and protein phosphorylation. Located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MAP4K3 Gene

mitog>gg>en-activated protein kinase kinase kinase kinase 3

This g>gg>ene encodes a member of the mitog>gg>en-activated protein kinase kinase kinase kinase family. The encoded protein activates key effectors in cell sig>gg>nalling>gg>, among>gg> them c-Jun. Alternatively spliced transcripts encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Jul 2012]

MAP4K2 Gene

mitog>gg>en-activated protein kinase kinase kinase kinase 2

The protein encoded by this g>gg>ene is a member of the serine/threonine protein kinase family. Althoug>gg>h this kinase is found in many tissues, its expression in lymphoid follicles is restricted to the cells of g>gg>erminal centre, where it may participate in B-cell differentiation. This kinase can be activated by TNF-alpha, and has been shown to specifically activate MAP kinases. This kinase is also found to interact with TNF g>receptorg>-associated factor 2 (TRAF2), which is involved in the activation of MAP3K1/MEKK1. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Apr 2015]

MAP4K5 Gene

mitog>gg>en-activated protein kinase kinase kinase kinase 5

This g>gg>ene encodes a member of the serine/threonine protein kinase family, that is hig>gg>hly similar to yeast SPS1/STE20 kinase. Yeast SPS1/STE20 functions near the beg>gg>inning>gg> of the MAP kinase sig>gg>nal cascades that is essential for yeast pheromone response. This kinase was shown to activate Jun kinase in mammalian cells, which sug>gg>g>gg>ested a role in stress response. Two alternatively spliced transcript variants encoding>gg> the same protein have been described for this g>gg>ene. [provided by RefSeq, Jul 2008]

MAP4K4 Gene

mitog>gg>en-activated protein kinase kinase kinase kinase 4

The protein encoded by this g>gg>ene is a member of the serine/threonine protein kinase family. This kinase has been shown to specifically activate MAPK8/JNK. The activation of MAPK8 by this kinase is found to be inhibited by the dominant-neg>gg>ative mutants of MAP3K7/TAK1, MAP2K4/MKK4, and MAP2K7/MKK7, which sug>gg>g>gg>ests that this kinase may function throug>gg>h the MAP3K7-MAP2K4-MAP2K7 kinase cascade, and mediate the TNF-alpha sig>gg>naling>gg> pathway. Alternatively spliced transcript variants encoding>gg> different isoforms have been identified. [provided by RefSeq, Jul 2008]

TRIM71 Gene

tripartite motif containing>gg> 71, E3 ubiquitin protein lig>gg>ase

The protein encoded by this g>gg>ene is an E3 ubiquitin-protein lig>gg>ase that binds with miRNAs and maintains the g>gg>rowth and upkeep of embryonic stem cells. This g>gg>ene also is involved in the g>Gg>1-S phase transition of the cell cycle. [provided by RefSeq, Dec 2015]

ZNF204P Gene

zinc fing>gg>er protein 204, pseudog>gg>ene

This locus represents a transcribed pseudog>gg>ene, possibly of ZNF79 (g>Gg>eneID 7633). The protein encoded by this locus would have sig>gg>nificant N-terminal truncation, and would lack the KRAB domain and the C2H2 type zinc fing>gg>er domain, compared to ZNF79. [provided by RefSeq, Jun 2011]

RPS2P39 Gene

ribosomal protein S2 pseudog>gg>ene 39

NRg>Gg>N Gene

neurog>gg>ranin (protein kinase C substrate, RC3)

Neurog>gg>ranin (NRg>Gg>N) is the human homolog>gg> of the neuron-specific rat RC3/neurog>gg>ranin g>gg>ene. This g>gg>ene encodes a postsynaptic protein kinase substrate that binds calmodulin in the absence of calcium. The NRg>Gg>N g>gg>ene contains four exons and three introns. The exons 1 and 2 encode the protein and exons 3 and 4 contain untranslated sequences. It is sug>gg>g>gg>ested that the NRg>Gg>N is a direct targ>gg>et for thyroid hormone in human brain, and that control of expression of this g>gg>ene could underlay many of the consequences of hypothyroidism on mental states during>gg> development as well as in adult subjects. [provided by RefSeq, Jul 2008]

RBMY2QP Gene

RNA binding>gg> motif protein, Y-linked, family 2, member Q pseudog>gg>ene

LOC100131868 Gene

serine/threonine-protein phosphatase 4 reg>gg>ulatory subunit 2-like

EIF4EBP2 Gene

eukaryotic translation initiation factor 4E binding>gg> protein 2

This g>gg>ene encodes a member of the eukaryotic translation initiation factor 4E binding>gg> protein family. The g>gg>ene products of this family bind eIF4E and inhibit translation initiation. However, insulin and other g>gg>rowth factors can release this inhibition via a phosphorylation-dependent disruption of their binding>gg> to eIF4E. Reg>gg>ulation of protein production throug>gg>h these g>gg>ene products have been implicated in cell proliferation, cell differentiation and viral infection. [provided by RefSeq, Oct 2008]

RPS2P32 Gene

ribosomal protein S2 pseudog>gg>ene 32

RPS2P35 Gene

ribosomal protein S2 pseudog>gg>ene 35

RPS2P34 Gene

ribosomal protein S2 pseudog>gg>ene 34

RBM15B Gene

RNA binding>gg> motif protein 15B

Members of the SPEN (Split-end) family of proteins, including>gg> RBM15B, have repressor function in several sig>gg>naling>gg> pathways and may bind to RNA throug>gg>h interaction with spliceosome components (Hiriart et al., 2005 [PubMed 16129689]).[supplied by OMIM, Feb 2009]

HSP90AA2P Gene

heat shock protein 90kDa alpha (cytosolic), class A member 2, pseudog>gg>ene

HSP90 proteins are hig>gg>hly conserved molecular chaperones that have key roles in sig>gg>nal transduction, protein folding>gg>, protein deg>gg>radation, and morpholog>gg>ic evolution. HSP90 proteins normally associate with other cochaperones and play important roles in folding>gg> newly synthesized proteins or stabilizing>gg> and refolding>gg> denatured proteins after stress. HSP90AA2 is a cytosolic HSP90 protein. Other HSP90 proteins are found in endoplasmic reticulum (HSP90B1; MIM 191175) and mitochondria (TRAP1; MIM 606219) (Chen et al., 2005 [PubMed 16269234]). See HSP90AA1 (MIM 140571) for further information on HSP90 proteins.[supplied by OMIM, Aug>gg> 2008]

LOC100887072 Gene

zinc fing>gg>er protein 470 pseudog>gg>ene

LOC100887071 Gene

zinc fing>gg>er protein 845 pseudog>gg>ene

LOC100887070 Gene

zinc fing>gg>er protein 729 pseudog>gg>ene

LOC100288666 Gene

ribosomal protein L7-like 1 pseudog>gg>ene

BNIP3P34 Gene

BCL2/adenovirus E1B 19kDa interacting>gg> protein 3 pseudog>gg>ene 34

BNIP3P39 Gene

BCL2/adenovirus E1B 19kDa interacting>gg> protein 3 pseudog>gg>ene 39

BNIP3P38 Gene

BCL2/adenovirus E1B 19kDa interacting>gg> protein 3 pseudog>gg>ene 38

RPL15P16 Gene

ribosomal protein L15 pseudog>gg>ene 16

LOC100419796 Gene

zinc fing>gg>er protein 146 pseudog>gg>ene

BRAP Gene

BRCA1 associated protein

The protein encoded by this g>gg>ene was identified by its ability to bind to the nuclear localization sig>gg>nal of BRCA1 and other proteins. It is a cytoplasmic protein which may reg>gg>ulate nuclear targ>gg>eting>gg> by retaining>gg> proteins with a nuclear localization sig>gg>nal in the cytoplasm. [provided by RefSeq, Jul 2008]

RPL15P13 Gene

ribosomal protein L15 pseudog>gg>ene 13

HAX1 Gene

HCLS1 associated protein X-1

The protein encoded by this g>gg>ene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 g>gg>ene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding>gg> protein, cortactin. It was earlier thoug>gg>ht that this g>gg>ene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this g>gg>ene result in autosomal recessive severe cong>gg>enital neutropenia, also known as Kostmann disease. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

LOC100422398 Gene

protein kinase, cAMP-dependent, reg>gg>ulatory, type II, beta pseudog>gg>ene

CLASP2 Gene

cytoplasmic linker associated protein 2

Enables cytoskeletal protein binding>gg> activity; dystrog>gg>lycan binding>gg> activity; and protein tyrosine kinase binding>gg> activity. Involved in several processes, including>gg> cytoskeleton org>gg>anization; positive reg>gg>ulation of extracellular matrix org>gg>anization; and reg>gg>ulation of supramolecular fiber org>gg>anization. Located in several cellular components, including>gg> basal cortex; focal adhesion; and microtubule cytoskeleton. Is active in g>gg>lutamaterg>gg>ic synapse. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CLASP1 Gene

cytoplasmic linker associated protein 1

CLASPs, such as CLASP1, are nonmotor microtubule-associated proteins that interact with CLIPs (e.g>gg>., CLIP170; MIM 179838). CLASP1 is involved in the reg>gg>ulation of microtubule dynamics at the kinetochore and throug>gg>hout the spindle (Maiato et al., 2003 [PubMed 12837247]).[supplied by OMIM, Mar 2008]

RPL22P8 Gene

ribosomal protein L22 pseudog>gg>ene 8

FABP5P15 Gene

fatty acid binding>gg> protein 5 pseudog>gg>ene 15

FABP5P14 Gene

fatty acid binding>gg> protein 5 pseudog>gg>ene 14

FABP5P10 Gene

fatty acid binding>gg> protein 5 pseudog>gg>ene 10

FABP5P12 Gene

fatty acid binding>gg> protein 5 pseudog>gg>ene 12

RPL12P33 Gene

ribosomal protein L12 pseudog>gg>ene 33

LOC100419553 Gene

zinc fing>gg>er protein 35 pseudog>gg>ene

LOC100419552 Gene

zinc fing>gg>er protein 57 pseudog>gg>ene

RPL36AP26 Gene

ribosomal protein L36a pseudog>gg>ene 26

RPL36AP20 Gene

ribosomal protein L36a pseudog>gg>ene 20

RPL36AP23 Gene

ribosomal protein L36a pseudog>gg>ene 23

RPL36AP29 Gene

ribosomal protein L36a pseudog>gg>ene 29

LINC01103 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1103

LINC01102 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1102

LINC01101 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1101

LINC01100 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1100

LINC01107 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1107

LINC01106 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1106

LINC01105 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1105

LINC01104 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1104

LINC01109 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1109

LINC01108 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1108

SPARC Gene

secreted protein, acidic, cysteine-rich (osteonectin)

This g>gg>ene encodes a cysteine-rich acidic matrix-associated protein. The encoded protein is required for the collag>gg>en in bone to become calcified but is also involved in extracellular matrix synthesis and promotion of chang>gg>es to cell shape. The g>gg>ene product has been associated with tumor suppression but has also been correlated with metastasis based on chang>gg>es to cell shape which can promote tumor cell invasion. Three transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jun 2015]

DBNDD2 Gene

dysbindin (dystrobrevin binding>gg> protein 1) domain containing>gg> 2

Predicted to enable ATPase binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of protein kinase activity. Predicted to be located in cytoplasm. Predicted to be active in endoplasmic reticulum and lysosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

DBNDD1 Gene

dysbindin (dystrobrevin binding>gg> protein 1) domain containing>gg> 1

Predicted to be involved in reg>gg>ulation of sig>gg>nal transduction. Predicted to be located in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC727947 Gene

ubiquinol-cytochrome c reductase binding>gg> protein pseudog>gg>ene

DBET Gene

D4Z4 binding>gg> element transcript (non-protein coding>gg>)

HSP90B2P Gene

heat shock protein 90kDa beta (g>Gg>rp94), member 2, pseudog>gg>ene

Predicted to enable several functions, including>gg> ATP binding>gg> activity; ATP hydrolysis activity; and unfolded protein binding>gg> activity. Predicted to be involved in protein folding>gg>. Predicted to be active in mitochondrial inner membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

IFITM9P Gene

interferon induced transmembrane protein 9 pseudog>gg>ene

LINC00278 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 278

LINC00279 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 279

MYRIP Gene

myosin VIIA and Rab interacting>gg> protein

Predicted to enable actin binding>gg> activity; myosin binding>gg> activity; and protein kinase A binding>gg> activity. Predicted to be involved in positive reg>gg>ulation of insulin secretion. Predicted to be located in several cellular components, including>gg> cytoplasmic vesicle; perinuclear reg>gg>ion of cytoplasm; and photog>receptorg> outer seg>gg>ment. Predicted to be part of exocyst. Predicted to be active in cortical actin cytoskeleton. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

HSPE1P8 Gene

heat shock 10kDa protein 1 pseudog>gg>ene 8

HSPE1P4 Gene

heat shock 10kDa protein 1 pseudog>gg>ene 4

HSPE1P5 Gene

heat shock 10kDa protein 1 pseudog>gg>ene 5

HSPE1P7 Gene

heat shock 10kDa protein 1 pseudog>gg>ene 7

HSPE1P1 Gene

heat shock 10kDa protein 1 pseudog>gg>ene 1

HSPE1P2 Gene

heat shock 10kDa protein 1 pseudog>gg>ene 2

HSPE1P3 Gene

heat shock 10kDa protein 1 pseudog>gg>ene 3

CIRBP Gene

cold inducible RNA binding>gg> protein

Enables mRNA 3'-UTR binding>gg> activity and small ribosomal subunit rRNA binding>gg> activity. Involved in mRNA stabilization; positive reg>gg>ulation of translation; and response to UV. Located in cytoplasm and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105379260 Gene

putative zinc fing>gg>er protein LOC441666

LINC00708 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 708

LINC00709 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 709

DBP Gene

D site of albumin promoter (albumin D-box) binding>gg> protein

The protein encoded by this g>gg>ene is a member of the PAR bZIP transcription factor family and binds to specific sequences in the promoters of several g>gg>enes, such as albumin, CYP2A4, and CYP2A5. The encoded protein can bind DNA as a homo- or heterodimer and is involved in the reg>gg>ulation of some circadian rhythm g>gg>enes. [provided by RefSeq, Jul 2014]

CTNNA1P1 Gene

catenin (cadherin-associated protein), alpha 1 pseudog>gg>ene 1

WNK4 Gene

WNK lysine deficient protein kinase 4

This g>gg>ene encodes a member of the WNK family of serine-threonine protein kinases. The kinase is part of the tig>gg>ht junction complex in kidney cells, and reg>gg>ulates the balance between NaCl reabsorption and K(+) secretion. The kinase reg>gg>ulates the activities of several types of ion channels, cotransporters, and exchang>gg>ers involved in electrolyte flux in epithelial cells. Mutations in this g>gg>ene result in pseudohypoaldosteronism type IIB.[provided by RefSeq, Sep 2009]

LOC102723660 Gene

ankyrin repeat domain-containing>gg> protein SOWAHC-like

LOC102723665 Gene

basic proline-rich protein-like

RPL23AP97 Gene

ribosomal protein L23a pseudog>gg>ene 97

PPP5C Gene

protein phosphatase 5, catalytic subunit

This g>gg>ene encodes a serine/threonine phosphatase which is a member of the protein phosphatase catalytic subunit family. Proteins in this family participate in pathways reg>gg>ulated by reversible phosphorylation at serine and threonine residues; many of these pathways are involved in the reg>gg>ulation of cell g>gg>rowth and differentiation. The product of this g>gg>ene has been shown to participate in sig>gg>naling>gg> pathways in response to hormones or cellular stress, and elevated levels of this protein may be associated with breast cancer development. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Feb 2011]

FILIP1 Gene

filamin A interacting>gg> protein 1

This g>gg>ene encodes a filamin A binding>gg> protein. The encoded protein promotes the deg>gg>radation of filamin A and may reg>gg>ulate cortical neuron mig>gg>ration and dendritic spine morpholog>gg>y. Mice lacking>gg> a functional copy of this g>gg>ene exhibit reduced dendritic spine leng>gg>th and altered excitatory sig>gg>naling>gg>. [provided by RefSeq, Oct 2016]

ZNF299P Gene

zinc fing>gg>er protein 299, pseudog>gg>ene

LINC00702 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 702

LOC101060501 Gene

lupus La protein pseudog>gg>ene

LOC729870 Gene

serine/arg>gg>inine repetitive matrix protein 1

STARP1 Gene

steroidog>gg>enic acute reg>gg>ulatory protein pseudog>gg>ene 1

ZNF93 Gene

zinc fing>gg>er protein 93

Enables DNA-binding>gg> transcription repressor activity, RNA polymerase II-specific. Involved in transposable element silencing>gg>. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105370706 Gene

uncharacterized protein C14orf56

TMEM52B Gene

transmembrane protein 52B

Located in extracellular exosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC642381 Gene

speckle-type POZ protein-like pseudog>gg>ene

LOC645177 Gene

lymphoid-restricted membrane protein-like

PRg>Gg>2 Gene

proteog>gg>lycan 2, bone marrow (natural killer cell activator, eosinophil g>gg>ranule major basic protein)

The protein encoded by this g>gg>ene is the predominant constituent of the crystalline core of the eosinophil g>gg>ranule. Hig>gg>h levels of the proform of this protein are also present in placenta and preg>gg>nancy serum, where it exists as a complex with several other proteins including>gg> preg>gg>nancy-associated plasma protein A (PAPPA), ang>gg>iotensinog>gg>en (Ag>Gg>T), and C3dg>gg>. This protein may be involved in antiparasitic defense mechanisms as a cytotoxin and helminthotoxin, and in immune hypersensitivity reactions. The encoded protein contains a peptide that displays potent antimicrobial activity ag>gg>ainst g>Gg>ram-positive bacteria, g>Gg>ram-neg>gg>ative bacteria, and fung>gg>i. It is directly implicated in epithelial cell damag>gg>e, exfoliation, and bronchospasm in allerg>gg>ic diseases. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Nov 2014]

ZNF859P Gene

zinc fing>gg>er protein 859, pseudog>gg>ene

MAPK6PS6 Gene

mitog>gg>en-activated protein kinase 6 pseudog>gg>ene 6

LOC146880 Gene

Rho g>Gg>TPase activating>gg> protein 27 pseudog>gg>ene

MAPK6PS3 Gene

mitog>gg>en-activated protein kinase 6 pseudog>gg>ene 3

LOC105372412 Gene

phospholipase A2 inhibitor and Ly6/PLAUR domain-containing>gg> protein-like

ABRA Gene

actin binding>gg> Rho activating>gg> protein

Predicted to enable actin binding>gg> activity. Predicted to be involved in actin cytoskeleton org>gg>anization; positive reg>gg>ulation of Rho protein sig>gg>nal transduction; and positive reg>gg>ulation of transcription by RNA polymerase II. Predicted to act upstream of or within positive reg>gg>ulation of DNA-templated transcription and protein import into nucleus. Located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZFX Gene

zinc fing>gg>er protein, X-linked

This g>gg>ene on the X chromosome is structurally similar to a related g>gg>ene on the Y chromosome. It encodes a member of the krueppel C2H2-type zinc-fing>gg>er protein family. The full-leng>gg>th protein contains an acidic transcriptional activation domain (AD), a nuclear localization sequence (NLS) and a DNA binding>gg> domain (DBD) consisting>gg> of 13 C2H2-type zinc fing>gg>ers. Studies in mouse embryonic and adult hematopoietic stem cells showed that this g>gg>ene was required as a transcriptional reg>gg>ulator for self-renewal of both stem cell types, but it was dispensable for g>gg>rowth and differentiation of their prog>gg>eny. Multiple alternatively spliced transcript variants encoding>gg> different isoforms have been identified, but the full-leng>gg>th nature of some variants has not been determined. [provided by RefSeq, May 2010]

ZFR Gene

zinc fing>gg>er RNA binding>gg> protein

This g>gg>ene encodes an RNA-binding>gg> protein characterized by its DZF (domain associated with zinc fing>gg>ers) domain. The encoded protein may play a role in the nucleocytoplasmic shuttling>gg> of another RNA-binding>gg> protein, Staufen homolog>gg> 2, in neurons. Expression of this g>gg>ene is reg>gg>ulated throug>gg>h alternative polyadenylation that mediates differential microRNA targ>gg>eting>gg>. Elevated expression of this g>gg>ene has been observed in human patients with pancreatic cancer and knockdown of this g>gg>ene may result in reduced viability and invasion of pancreatic cancer cells. [provided by RefSeq, Sep 2016]

IFI27 Gene

interferon, alpha-inducible protein 27

Enables several functions, including>gg> RNA polymerase II-specific DNA-binding>gg> transcription factor binding>gg> activity; identical protein binding>gg> activity; and lamin binding>gg> activity. Involved in several processes, including>gg> defense response to symbiont; protein K48-linked ubiquitination; and pyroptotic inflammatory response. Acts upstream of or within neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II and reg>gg>ulation of protein export from nucleus. Located in mitochondrial membrane and nuclear inner membrane. Is active in mitochondrion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF321P Gene

zinc fing>gg>er protein 321, pseudog>gg>ene

TOPORS Gene

topoisomerase I binding>gg>, arg>gg>inine/serine-rich, E3 ubiquitin protein lig>gg>ase

This g>gg>ene encodes a nuclear protein which is serine and arg>gg>inine rich, and contains a RINg>Gg>-type zinc fing>gg>er domain. It is hig>gg>hly expressed in the testis, and functions as an ubiquitin-protein E3 lig>gg>ase. Mutations in this g>gg>ene are associated with retinitis pig>gg>mentosa type 31. Alternatively spliced transcript variants, encoding>gg> different isoforms, have been observed for this locus. [provided by RefSeq, Sep 2010]

LOC442309 Gene

interferon induced transmembrane protein 3 pseudog>gg>ene

RPL22P19 Gene

ribosomal protein L22 pseudog>gg>ene 19

RPL22P18 Gene

ribosomal protein L22 pseudog>gg>ene 18

RPL22P10 Gene

ribosomal protein L22 pseudog>gg>ene 10

RPL22P13 Gene

ribosomal protein L22 pseudog>gg>ene 13

RPL22P12 Gene

ribosomal protein L22 pseudog>gg>ene 12

LOC100421401 Gene

g>gg>uanylate binding>gg> protein family, member 6 pseudog>gg>ene

LOC102724025 Gene

60S ribosomal protein L29-like

LOC102724023 Gene

ES1 protein homolog>gg>, mitochondrial

RPS24P12 Gene

ribosomal protein S24 pseudog>gg>ene 12

CDC42EP3P1 Gene

CDC42 effector protein (Rho g>Gg>TPase binding>gg>) 3 pseudog>gg>ene 1

RPS24P17 Gene

ribosomal protein S24 pseudog>gg>ene 17

LOC100422076 Gene

phosphatidylinositol transfer protein, cytoplasmic 1 pseudog>gg>ene

LOC649352 Gene

ubiquitin carboxyl-terminal hydrolase 17-like protein 2-like

ZNF891 Gene

zinc fing>gg>er protein 891

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP13-4 Gene

keratin associated protein 13-4

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS18P8 Gene

ribosomal protein S18 pseudog>gg>ene 8

KRTAP13-1 Gene

keratin associated protein 13-1

Hair keratins and hair keratin-associated proteins (KAPs), such as KRTAP13-1, are the main structural proteins of hair fibers (Rog>gg>ers et al., 2002 [PubMed 12359730]).[supplied by OMIM, Mar 2008]

KRTAP13-2 Gene

keratin associated protein 13-2

Predicted to enable structural molecule activity. Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP13-3 Gene

keratin associated protein 13-3

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS18P1 Gene

ribosomal protein S18 pseudog>gg>ene 1

RPS18P3 Gene

ribosomal protein S18 pseudog>gg>ene 3

RPS18P2 Gene

ribosomal protein S18 pseudog>gg>ene 2

RPS18P5 Gene

ribosomal protein S18 pseudog>gg>ene 5

RPS18P4 Gene

ribosomal protein S18 pseudog>gg>ene 4

RPS18P7 Gene

ribosomal protein S18 pseudog>gg>ene 7

RPS18P6 Gene

ribosomal protein S18 pseudog>gg>ene 6

RPL27AP5 Gene

ribosomal protein L27a pseudog>gg>ene 5

RPL27AP2 Gene

ribosomal protein L27a pseudog>gg>ene 2

RPL27AP3 Gene

ribosomal protein L27a pseudog>gg>ene 3

CEBPD Gene

CCAAT/enhancer binding>gg> protein (C/EBP), delta

The protein encoded by this intronless g>gg>ene is a bZIP transcription factor which can bind as a homodimer to certain DNA reg>gg>ulatory reg>gg>ions. It can also form heterodimers with the related protein CEBP-alpha. The encoded protein is important in the reg>gg>ulation of g>gg>enes involved in immune and inflammatory responses, and may be involved in the reg>gg>ulation of g>gg>enes associated with activation and/or differentiation of macrophag>gg>es. The cytog>gg>enetic location of this locus has been reported as both 8p11 and 8q11. [provided by RefSeq, Sep 2010]

RPL27AP8 Gene

ribosomal protein L27a pseudog>gg>ene 8

LOC100129527 Gene

ESF1, nucleolar pre-rRNA processing>gg> protein, homolog>gg> (S. cerevisiae) pseudog>gg>ene

HCg>Gg>24 Gene

HLA complex g>gg>roup 24 (non-protein coding>gg>)

HSPA8P20 Gene

heat shock 70kDa protein 8 pseudog>gg>ene 20

RPL7P19 Gene

ribosomal protein L7 pseudog>gg>ene 19

RPL7P18 Gene

ribosomal protein L7 pseudog>gg>ene 18

RPL7P13 Gene

ribosomal protein L7 pseudog>gg>ene 13

RPL7P12 Gene

ribosomal protein L7 pseudog>gg>ene 12

RPL7P10 Gene

ribosomal protein L7 pseudog>gg>ene 10

RPL7P17 Gene

ribosomal protein L7 pseudog>gg>ene 17

RPL7P16 Gene

ribosomal protein L7 pseudog>gg>ene 16

RPL7P15 Gene

ribosomal protein L7 pseudog>gg>ene 15

RPL7P14 Gene

ribosomal protein L7 pseudog>gg>ene 14

RBP1 Gene

retinol binding>gg> protein 1, cellular

This g>gg>ene encodes the carrier protein involved in the transport of retinol (vitamin A alcohol) from the liver storag>gg>e site to peripheral tissue. Vitamin A is a fat-soluble vitamin necessary for g>gg>rowth, reproduction, differentiation of epithelial tissues, and vision. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Aug>gg> 2008]

RBP2 Gene

retinol binding>gg> protein 2, cellular

This g>gg>ene encodes an abundant protein present in the small intestinal epithelium. It is thoug>gg>ht to participate in the uptake and/or intracellular metabolism of vitamin A. Vitamin A is a fat-soluble vitamin necessary for g>gg>rowth, reproduction, differentiation of epithelial tissues, and vision. This protein may also modulate the supply of retinoic acid to the nuclei of endometrial cells during>gg> the menstrual cycle. [provided by RefSeq, Aug>gg> 2015]

RBP3 Gene

retinol binding>gg> protein 3, interstitial

Interphotog>receptorg> retinol-binding>gg> protein is a larg>gg>e g>gg>lycoprotein known to bind retinoids and found primarily in the interphotog>receptorg> matrix of the retina between the retinal pig>gg>ment epithelium and the photog>receptorg> cells. It is thoug>gg>ht to transport retinoids between the retinal pig>gg>ment epithelium and the photog>receptorg>s, a critical role in the visual process.The human IRBP g>gg>ene is approximately 9.5 kbp in leng>gg>th and consists of four exons separated by three introns. The introns are 1.6-1.9 kbp long>gg>. The g>gg>ene is transcribed by photog>receptorg> and retinoblastoma cells into an approximately 4.3-kilobase mRNA that is translated and processed into a g>gg>lycosylated protein of 135,000 Da. The amino acid sequence of human IRBP can be divided into four contig>gg>uous homolog>gg>y domains with 33-38% identity, sug>gg>g>gg>esting>gg> a series of g>gg>ene duplication events. In the g>gg>ene, the boundaries of these domains are not defined by exon-intron junctions, as mig>gg>ht have been expected. The first three homolog>gg>y domains and part of the fourth are all encoded by the first larg>gg>e exon, which is 3,180 base pairs long>gg>. The remainder of the fourth domain is encoded in the last three exons, which are 191, 143, and approximately 740 base pairs long>gg>, respectively. [provided by RefSeq, Jul 2008]

RBP4 Gene

retinol binding>gg> protein 4, plasma

This protein belong>gg>s to the lipocalin family and is the specific carrier for retinol (vitamin A alcohol) in the blood. It delivers retinol from the liver stores to the peripheral tissues. In plasma, the RBP-retinol complex interacts with transthyretin which prevents its loss by filtration throug>gg>h the kidney g>gg>lomeruli. A deficiency of vitamin A blocks secretion of the binding>gg> protein posttranslationally and results in defective delivery and supply to the epidermal cells. [provided by RefSeq, Jul 2008]

RBP5 Gene

retinol binding>gg> protein 5, cellular

The protein encoded by this g>gg>ene is a cellular retinol-binding>gg> protein expressed hig>gg>hly in kidney and liver. Down-reg>gg>ulation of the encoded protein in hepatocellular carcinoma was associated with larg>gg>e tumor size and poor patient survival rates. [provided by RefSeq, Jul 2016]

RBP7 Gene

retinol binding>gg> protein 7, cellular

The protein encoded by this g>gg>ene is a member of the cellular retinol-binding>gg> protein (CRBP) family, whose members are required for vitamin A stability and metabolism. The encoded protein binds all-trans-retinol and is structurally similar to other CRBPs; however, it has a lower binding>gg> affinity for retinol than other CRBPs. [provided by RefSeq, Aug>gg> 2016]

HCg>Gg>26 Gene

HLA complex g>gg>roup 26 (non-protein coding>gg>)

RPL31P37 Gene

ribosomal protein L31 pseudog>gg>ene 37

RPL31P34 Gene

ribosomal protein L31 pseudog>gg>ene 34

LOC390618 Gene

ribosomal protein L7-like 1 pseudog>gg>ene

TMEM97P1 Gene

transmembrane protein 97 pseudog>gg>ene 1

LOC100130485 Gene

FK506 binding>gg> protein 3, 25kDa pseudog>gg>ene

LOC100129616 Gene

putative UPF0607 protein ENSP00000332738-like

KRTAP2-5P Gene

keratin associated protein 2-5, pseudog>gg>ene

PPM1AP1 Gene

protein phosphatase, Mg>gg>2+/Mn2+ dependent 1A, pseudog>gg>ene 1

LOC100287610 Gene

zinc fing>gg>er protein 73-like

LOC100287613 Gene

Rho g>Gg>TPase activating>gg> protein 20 pseudog>gg>ene

ZNF488 Gene

zinc fing>gg>er protein 488

Predicted to enable DNA binding>gg> activity and metal ion binding>gg> activity. Predicted to be involved in olig>gg>odendrocyte development and reg>gg>ulation of DNA-templated transcription. Predicted to act upstream of or within neg>gg>ative reg>gg>ulation of DNA-templated transcription and positive reg>gg>ulation of olig>gg>odendrocyte differentiation. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RASg>Gg>RF1 Gene

Ras protein-specific g>gg>uanine nucleotide-releasing>gg> factor 1

The protein encoded by this g>gg>ene is a g>gg>uanine nucleotide exchang>gg>e factor (g>Gg>EF) similar to the Saccharomyces cerevisiae CDC25 g>gg>ene product. Functional analysis has demonstrated that this protein stimulates the dissociation of g>Gg>DP from RAS protein. The studies of the similar g>gg>ene in mouse sug>gg>g>gg>ested that the Ras-g>Gg>EF activity of this protein in brain can be activated by Ca2+ influx, muscarinic g>receptorg>s, and g>Gg> protein beta-g>gg>amma subunit. Mouse studies also indicated that the Ras-g>Gg>EF sig>gg>naling>gg> pathway mediated by this protein may be important for long>gg>-term memory. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been reported. [provided by RefSeq, Mar 2009]

RASg>Gg>RF2 Gene

Ras protein-specific g>gg>uanine nucleotide-releasing>gg> factor 2

RAS g>Gg>TPases cycle between an inactive g>Gg>DP-bound state and an active g>Gg>TP-bound state. This g>gg>ene encodes a calcium-reg>gg>ulated nucleotide exchang>gg>e factor activating>gg> both RAS and RAS-related protein, RAC1, throug>gg>h the exchang>gg>e of bound g>Gg>DP for g>Gg>TP, thereby, coordinating>gg> the sig>gg>naling>gg> of distinct mitog>gg>en-activated protein kinase pathways. [provided by RefSeq, Oct 2011]

ZNF480 Gene

zinc fing>gg>er protein 480

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Located in cytosol and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF483 Gene

zinc fing>gg>er protein 483

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF484 Gene

zinc fing>gg>er protein 484

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF485 Gene

zinc fing>gg>er protein 485

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF486 Gene

zinc fing>gg>er protein 486

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Located in extracellular exosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF487 Gene

zinc fing>gg>er protein 487

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100421364 Gene

fibroblast g>gg>rowth factor binding>gg> protein 1 pseudog>gg>ene

LOC101060076 Gene

60S ribosomal protein L14 pseudog>gg>ene

RPL35P9 Gene

ribosomal protein L35 pseudog>gg>ene 9

RPL35P8 Gene

ribosomal protein L35 pseudog>gg>ene 8

RPL35P1 Gene

ribosomal protein L35 pseudog>gg>ene 1

RPL35P3 Gene

ribosomal protein L35 pseudog>gg>ene 3

RPL35P2 Gene

ribosomal protein L35 pseudog>gg>ene 2

RPL35P4 Gene

ribosomal protein L35 pseudog>gg>ene 4

RPL35P6 Gene

ribosomal protein L35 pseudog>gg>ene 6

TACC1P1 Gene

transforming>gg>, acidic coiled-coil containing>gg> protein 1 pseudog>gg>ene 1

RPS3AP29 Gene

ribosomal protein S3a pseudog>gg>ene 29

RPS3AP21 Gene

ribosomal protein S3a pseudog>gg>ene 21

RPS3AP20 Gene

ribosomal protein S3a pseudog>gg>ene 20

RPS3AP23 Gene

ribosomal protein S3a pseudog>gg>ene 23

RPS3AP22 Gene

ribosomal protein S3a pseudog>gg>ene 22

RPS3AP25 Gene

ribosomal protein S3a pseudog>gg>ene 25

RPS3AP24 Gene

ribosomal protein S3a pseudog>gg>ene 24

RPS3AP27 Gene

ribosomal protein S3a pseudog>gg>ene 27

RPS3AP26 Gene

ribosomal protein S3a pseudog>gg>ene 26

TMEM184A Gene

transmembrane protein 184A

Predicted to enable heparin binding>gg> activity and transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to act upstream of or within g>gg>erm-line sex determination; reg>gg>ulation of protein localization; and reg>gg>ulation of secretion. Predicted to be located in cytoplasmic vesicle; perinuclear reg>gg>ion of cytoplasm; and plasma membrane. Predicted to be active in early endosome membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM184B Gene

transmembrane protein 184B

Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to be active in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM184C Gene

transmembrane protein 184C

Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to be active in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC01312 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1312

LINC01310 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1310

LINC01311 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1311

LINC01314 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1314

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC01315 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1315

PABPN1 Gene

poly(A) binding>gg> protein, nuclear 1

This g>gg>ene encodes an abundant nuclear protein that binds with hig>gg>h affinity to nascent poly(A) tails. The protein is required for prog>gg>ressive and efficient polymerization of poly(A) tails at the 3' ends of eukaryotic transcripts and controls the size of the poly(A) tail to about 250 nt. At steady-state, this protein is localized in the nucleus whereas a different poly(A) binding>gg> protein is localized in the cytoplasm. This g>gg>ene contains a g>Gg>Cg>Gg> trinucleotide repeat at the 5' end of the coding>gg> reg>gg>ion, and expansion of this repeat from the normal 6 copies to 8-13 copies leads to autosomal dominant oculopharyng>gg>eal muscular dystrophy (OPMD) disease. Related pseudog>gg>enes have been identified on chromosomes 19 and X. Read-throug>gg>h transcription also exists between this g>gg>ene and the neig>gg>hboring>gg> upstream BCL2-like 2 (BCL2L2) g>gg>ene. [provided by RefSeq, Dec 2010]

RPL18P8 Gene

ribosomal protein L18 pseudog>gg>ene 8

RPL18P9 Gene

ribosomal protein L18 pseudog>gg>ene 9

LOC402076 Gene

F-box and leucine-rich repeat protein 12 pseudog>gg>ene

LOC101060152 Gene

NCK-associated protein 1 pseudog>gg>ene

RPL5P8 Gene

ribosomal protein L5 pseudog>gg>ene 8

TSPY10 Gene

testis specific protein, Y-linked 10

Predicted to enable chromatin binding>gg> activity and histone binding>gg> activity. Predicted to be involved in sex differentiation. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPAP2P1 Gene

RNA polymerase II associated protein 2 pseudog>gg>ene 1

LOC102724101 Gene

TP53-targ>gg>et g>gg>ene 3 protein

Located in cytoplasm and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CEP44 Gene

centrosomal protein 44kDa

Enables microtubule binding>gg> activity. Involved in centriole replication and centriole-centriole cohesion. Located in centriole; centrosome; and spindle pole. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CEP41 Gene

centrosomal protein 41kDa

This g>gg>ene encodes a centrosomal and microtubule-binding>gg> protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pig>gg>ment epithelial cells the protein localized to centrioles and cilia. Mutations in this g>gg>ene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurolog>gg>ical disorder. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Mar 2012]

HSPE1 Gene

heat shock 10kDa protein 1

This g>gg>ene encodes a major heat shock protein which functions as a chaperonin. Its structure consists of a heptameric ring>gg> which binds to another heat shock protein in order to form a symmetric, functional heterodimer which enhances protein folding>gg> in an ATP-dependent manner. This g>gg>ene and its co-chaperonin, HSPD1, are arrang>gg>ed in a head-to-head orientation on chromosome 2. Naturally occurring>gg> read-throug>gg>h transcription occurs between this locus and the neig>gg>hboring>gg> locus MOBKL3.[provided by RefSeq, Feb 2011]

TSPY22P Gene

testis specific protein, Y-linked 22, pseudog>gg>ene

TTTY14 Gene

testis-specific transcript, Y-linked 14 (non-protein coding>gg>)

TTTY15 Gene

testis-specific transcript, Y-linked 15 (non-protein coding>gg>)

TTTY16 Gene

testis-specific transcript, Y-linked 16 (non-protein coding>gg>)

TTTY10 Gene

testis-specific transcript, Y-linked 10 (non-protein coding>gg>)

TTTY11 Gene

testis-specific transcript, Y-linked 11 (non-protein coding>gg>)

TTTY12 Gene

testis-specific transcript, Y-linked 12 (non-protein coding>gg>)

TTTY13 Gene

testis-specific transcript, Y-linked 13 (non-protein coding>gg>)

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TTTY18 Gene

testis-specific transcript, Y-linked 18 (non-protein coding>gg>)

TTTY19 Gene

testis-specific transcript, Y-linked 19 (non-protein coding>gg>)

TMEM222 Gene

transmembrane protein 222

Located in dendrite. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM223 Gene

transmembrane protein 223

Enables mitochondrial ribosome binding>gg> activity. Involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrion. Is active in mitochondrial inner membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM220 Gene

transmembrane protein 220

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM221 Gene

transmembrane protein 221

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC102723580 Gene

putative uncharacterized protein FLJ44672

TTTY1B Gene

testis-specific transcript, Y-linked 1B (non-protein coding>gg>)

KNOP1P5 Gene

lysine-rich nucleolar protein 1 pseudog>gg>ene 5

KNOP1P2 Gene

lysine-rich nucleolar protein 1 pseudog>gg>ene 2

LOC646616 Gene

transmembrane protein 183A pseudog>gg>ene

NABP2 Gene

nucleic acid binding>gg> protein 2

Sing>gg>le-stranded DNA (ssDNA)-binding>gg> proteins, such as OBFC2B, are ubiquitous and essential for a variety of DNA metabolic processes, including>gg> replication, recombination, and detection and repair of damag>gg>e (Richard et al., 2008 [PubMed 18449195]).[supplied by OMIM, Jun 2008]

NABP1 Gene

nucleic acid binding>gg> protein 1

Sing>gg>le-stranded DNA (ssDNA)-binding>gg> proteins, such as OBFC2A, are ubiquitous and essential for a variety of DNA metabolic processes, including>gg> replication, recombination, and detection and repair of damag>gg>e (Richard et al., 2008 [PubMed 18449195]).[supplied by OMIM, Jun 2008]

KRTAP20-2 Gene

keratin associated protein 20-2

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP20-1 Gene

keratin associated protein 20-1

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TPR Gene

translocated promoter reg>gg>ion, nuclear basket protein

This g>gg>ene encodes a larg>gg>e coiled-coil protein that forms intranuclear filaments attached to the inner surface of nuclear pore complexes (NPCs). The protein directly interacts with several components of the NPC. It is required for the nuclear export of mRNAs and some proteins. Oncog>gg>enic fusions of the 5' end of this g>gg>ene with several different kinase g>gg>enes occur in some neoplasias. [provided by RefSeq, Jul 2008]

HRK Gene

harakiri, BCL2 interacting>gg> protein

This g>gg>ene encodes a member of the BCL-2 protein family. Members of this family are involved in activating>gg> or inhibiting>gg> apoptosis. The encoded protein localizes to intracellular membranes. This protein promotes apoptosis by interacting>gg> with the apoptotic inhibitors BCL-2 and BCL-X(L) via its BH3 domain. Alternate splicing>gg> results in multiple transcript variants. [provided by RefSeq, Oct 2012]

HRC Gene

histidine rich calcium binding>gg> protein

This g>gg>ene encodes a luminal sarcoplasmic reticulum protein identified by its ability to bind low-density lipoprotein with hig>gg>h affinity. The protein interacts with the cytoplasmic domain of triadin, the main transmembrane protein of the junctional sarcoplasmic reticulum (SR) of skeletal muscle. The protein functions in the reg>gg>ulation of releasable calcium into the SR. [provided by RefSeq, Sep 2008]

OSBPL10 Gene

oxysterol binding>gg> protein-like 10

This g>gg>ene encodes a member of the oxysterol-binding>gg> protein (OSBP) family, a g>gg>roup of intracellular lipid g>receptorg>s. Like most members, the encoded protein contains an N-terminal pleckstrin homolog>gg>y domain and a hig>gg>hly conserved C-terminal OSBP-like sterol-binding>gg> domain. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Mar 2010]

OSBPL11 Gene

oxysterol binding>gg> protein-like 11

This g>gg>ene encodes a member of the oxysterol-binding>gg> protein (OSBP) family, a g>gg>roup of intracellular lipid g>receptorg>s. Like most members, the encoded protein contains an N-terminal pleckstrin homolog>gg>y domain and a hig>gg>hly conserved C-terminal OSBP-like sterol-binding>gg> domain. [provided by RefSeq, Jul 2008]

MAP2K4P1 Gene

mitog>gg>en-activated protein kinase kinase 4 pseudog>gg>ene 1

LOC101930006 Gene

putative protein FRMPD2-like

SHKBP1 Gene

SH3KBP1 binding>gg> protein 1

Enables identical protein binding>gg> activity. Predicted to be involved in positive reg>gg>ulation of epidermal g>gg>rowth factor g>receptorg> sig>gg>naling>gg> pathway. Predicted to be located in lysosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>RASPOS Gene

g>Gg>RP1-associated scaffold protein opposite strand

DRAXINP1 Gene

dorsal inhibitory axon g>gg>uidance protein pseudog>gg>ene 1

CDKAL1 Gene

CDK5 reg>gg>ulatory subunit associated protein 1-like 1

The protein encoded by this g>gg>ene is a member of the methylthiotransferase family. The function of this g>gg>ene is not known. g>Gg>enome-wide association studies have linked sing>gg>le nucleotide polymorphisms in an intron of this g>gg>ene with susceptibilty to type 2 diabetes. [provided by RefSeq, May 2010]

RPL6P10 Gene

ribosomal protein L6 pseudog>gg>ene 10

RPL6P11 Gene

ribosomal protein L6 pseudog>gg>ene

RPL6P12 Gene

ribosomal protein L6 pseudog>gg>ene 12

RPL6P13 Gene

ribosomal protein L6 pseudog>gg>ene 13

RPL6P14 Gene

ribosomal protein L6 pseudog>gg>ene 14

RPL6P15 Gene

ribosomal protein L6 pseudog>gg>ene 15

RPL6P17 Gene

ribosomal protein L6 pseudog>gg>ene 17

RPL6P19 Gene

ribosomal protein L6 pseudog>gg>ene 19

PRKY Gene

protein kinase, Y-linked, pseudog>gg>ene

This g>gg>ene is similar to the protein kinase, X-linked g>gg>ene in the pseudoautosomal reg>gg>ion of the X chromosome. The g>gg>ene is classified as a transcribed pseudog>gg>ene because it has lost a coding>gg> exon that results in all transcripts being>gg> candidates for nonsense-mediated decay (NMD) and unlikely to express a protein. Abnormal recombination between this g>gg>ene and a related g>gg>ene on chromosome X is a frequent cause of XX males and XY females. [provided by RefSeq, Jul 2010]

PRKX Gene

protein kinase, X-linked

This g>gg>ene encodes a serine threonine protein kinase that has similarity to the catalytic subunit of cyclic AMP dependent protein kinases. The encoded protein is developmentally reg>gg>ulated and may be involved in renal epithelial morphog>gg>enesis. This protein may also be involved in macrophag>gg>e and g>gg>ranulocyte maturation. Abnormal recombination between this g>gg>ene and a related pseudog>gg>ene on chromosome Y is a frequent cause of sex reversal disorder in XX males and XY females. Pseudog>gg>enes of this g>gg>ene are found on chromosomes X, 15 and Y. [provided by RefSeq, Feb 2010]

RPS2P40 Gene

ribosomal protein S2 pseudog>gg>ene 40

RPS2P41 Gene

ribosomal protein S2 pseudog>gg>ene 41

RPS2P42 Gene

ribosomal protein S2 pseudog>gg>ene 42

RPS2P43 Gene

ribosomal protein S2 pseudog>gg>ene 43

RPS2P44 Gene

ribosomal protein S2 pseudog>gg>ene 44

RPS2P45 Gene

ribosomal protein S2 pseudog>gg>ene 45

RPS2P46 Gene

ribosomal protein S2 pseudog>gg>ene 46

RPS2P48 Gene

ribosomal protein S2 pseudog>gg>ene 48

RPS2P49 Gene

ribosomal protein S2 pseudog>gg>ene 49

RPL21P82 Gene

ribosomal protein L21 pseudog>gg>ene 82

RPL21P81 Gene

ribosomal protein L21 pseudog>gg>ene 81

RPL21P80 Gene

ribosomal protein L21 pseudog>gg>ene 80

RPL21P84 Gene

ribosomal protein L21 pseudog>gg>ene 84

CYSRT1 Gene

cysteine-rich tail protein 1

Enables identical protein binding>gg> activity. Involved in biolog>gg>ical process involved in interaction with symbiont and establishment of skin barrier. Located in cornified envelope. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL21P88 Gene

ribosomal protein L21 pseudog>gg>ene 88

LOC100533634 Gene

zinc fing>gg>er protein 737 pseudog>gg>ene

PPP4R4 Gene

protein phosphatase 4, reg>gg>ulatory subunit 4

The protein encoded by this g>gg>ene is a HEAT-like repeat-containing>gg> protein. The HEAT repeat is a tandemly repeated, 37-47 amino acid long>gg> module occurring>gg> in a number of cytoplasmic proteins. Arrays of HEAT repeats form a rod-like helical structure and appear to function as protein-protein interaction surfaces. The repeat-containing>gg> reg>gg>ion of this protein has some similarity to the constant reg>gg>ulatory domain of the protein phosphatase 2A PR65/A subunit. The encoded protein binds protein serine/threonine phosphatase 4c in the cytoplasm. [provided by RefSeq, Jan 2017]

PPP4R1 Gene

protein phosphatase 4, reg>gg>ulatory subunit 1

This g>gg>ene encodes one of several alternate reg>gg>ulatory subunits of serine/threonine protein phosphatase 4 (PP4). The protein features multiple HEAT repeats. This protein forms a complex with PP4RC. This complex may have a distinct role from other PP4 complexes, including>gg> reg>gg>ulation of HDAC3 (Zhang>gg> et al., PMID: 15805470). There is also a transcribed pseudog>gg>ene on chromosome 20. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jun 2012]

PPP4R2 Gene

protein phosphatase 4, reg>gg>ulatory subunit 2

The protein encoded by this g>gg>ene is a reg>gg>ulatory subunit of the serine/threonine-protein phosphatase 4 complex. In addition to being>gg> required for efficient DNA double strand break repair, this complex plays a role in org>gg>anization of microtubules at centrosomes and processing>gg> of spliceosomal snRNPs. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Dec 2015]

TMED10 Gene

transmembrane emp24-like trafficking>gg> protein 10 (yeast)

This g>gg>ene is a member of the EMP24/g>Gg>P25L/p24 family and encodes a protein with a g>Gg>OLD domain. This type I membrane protein is localized to the plasma membrane and g>gg>olg>gg>i cisternae and is involved in vesicular protein trafficking>gg>. The protein is also a member of a heteromeric secretase complex and reg>gg>ulates the complex's g>gg>amma-secretase activity without affecting>gg> its epsilon-secretase activity. Mutations in this g>gg>ene have been associated with early-onset familial Alzheimer's disease. This g>gg>ene has a pseudog>gg>ene on chromosome 8. [provided by RefSeq, Jul 2008]

MAP3K8 Gene

mitog>gg>en-activated protein kinase kinase kinase 8

This g>gg>ene is an oncog>gg>ene that encodes a member of the serine/threonine protein kinase family. The encoded protein localizes to the cytoplasm and can activate both the MAP kinase and JNK kinase pathways. This protein was shown to activate IkappaB kinases, and thus induce the nuclear production of NF-kappaB. This protein was also found to promote the production of TNF-alpha and IL-2 during>gg> T lymphocyte activation. This g>gg>ene may also utilize a downstream in-frame translation start codon, and thus produce an isoform containing>gg> a shorter N-terminus. The shorter isoform has been shown to display weaker transforming>gg> activity. Alternate splicing>gg> results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]

MAP3K9 Gene

mitog>gg>en-activated protein kinase kinase kinase 9

Enables molecular function activator activity and protein serine/threonine kinase activity. Involved in protein autophosphorylation. Predicted to be located in membrane. Predicted to be active in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MAP3K2 Gene

mitog>gg>en-activated protein kinase kinase kinase 2

The protein encoded by this g>gg>ene is a member of serine/threonine protein kinase family. This kinase preferentially activates other kinases involved in the MAP kinase sig>gg>naling>gg> pathway. This kinase has been shown to directly phosphorylate and activate Ikappa B kinases, and thus plays a role in NF-kappa B sig>gg>naling>gg> pathway. This kinase has also been found to bind and activate protein kinase C-related kinase 2, which sug>gg>g>gg>ests its involvement in a reg>gg>ulated sig>gg>naling>gg> process. [provided by RefSeq, Jul 2008]

MAP3K3 Gene

mitog>gg>en-activated protein kinase kinase kinase 3

This g>gg>ene product is a 626-amino acid polypeptide that is 96.5% identical to mouse Mekk3. Its catalytic domain is closely related to those of several other kinases, including>gg> mouse Mekk2, tobacco NPK, and yeast Ste11. Northern blot analysis revealed a 4.6-kb transcript that appears to be ubiquitously expressed. This protein directly reg>gg>ulates the stress-activated protein kinase (SAPK) and extracellular sig>gg>nal-reg>gg>ulated protein kinase (ERK) pathways by activating>gg> SEK and MEK1/2 respectively; it does not reg>gg>ulate the p38 pathway. In cotransfection assays, it enhanced transcription from a nuclear factor kappa-B (NFKB)-dependent reporter g>gg>ene, consistent with a role in the SAPK pathway. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

MAP3K7 Gene

mitog>gg>en-activated protein kinase kinase kinase 7

The protein encoded by this g>gg>ene is a member of the serine/threonine protein kinase family. This kinase mediates the sig>gg>naling>gg> transduction induced by Tg>Gg>F beta and morphog>gg>enetic protein (BMP), and controls a variety of cell functions including>gg> transcription reg>gg>ulation and apoptosis. In response to IL-1, this protein forms a kinase complex including>gg> TRAF6, MAP3K7P1/TAB1 and MAP3K7P2/TAB2; this complex is required for the activation of nuclear factor kappa B. This kinase can also activate MAPK8/JNK, MAP2K4/MKK4, and thus plays a role in the cell response to environmental stresses. Four alternatively spliced transcript variants encoding>gg> distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

MAP3K4 Gene

mitog>gg>en-activated protein kinase kinase kinase 4

The central core of each mitog>gg>en-activated protein kinase (MAPK) pathway is a conserved cascade of 3 protein kinases: an activated MAPK kinase kinase (MAPKKK) phosphorylates and activates a specific MAPK kinase (MAPKK), which then activates a specific MAPK. While the ERK MAPKs are activated by mitog>gg>enic stimulation, the CSBP2 and JNK MAPKs are activated by environmental stresses such as osmotic shock, UV irradiation, wound stress, and inflammatory factors. This g>gg>ene encodes a MAPKKK, the MEKK4 protein, also called MTK1. This protein contains a protein kinase catalytic domain at the C terminus. The N-terminal nonkinase domain may contain a reg>gg>ulatory domain. Expression of MEKK4 in mammalian cells activated the CSBP2 and JNK MAPK pathways, but not the ERK pathway. In vitro kinase studies indicated that recombinant MEKK4 can specifically phosphorylate and activate PRKMK6 and SERK1, MAPKKs that activate CSBP2 and JNK, respectively but cannot phosphorylate PRKMK1, an MAPKK that activates ERKs. MEKK4 is a major mediator of environmental stresses that activate the CSBP2 MAPK pathway, and a minor mediator of the JNK pathway. Several alternatively spliced transcripts encoding>gg> distinct isoforms have been described. [provided by RefSeq, May 2014]

MAP3K5 Gene

mitog>gg>en-activated protein kinase kinase kinase 5

Mitog>gg>en-activated protein kinase (MAPK) sig>gg>naling>gg> cascades include MAPK or extracellular sig>gg>nal-reg>gg>ulated kinase (ERK), MAPK kinase (MKK or MEK), and MAPK kinase kinase (MAPKKK or MEKK). MAPKK kinase/MEKK phosphorylates and activates its downstream protein kinase, MAPK kinase/MEK, which in turn activates MAPK. The kinases of these sig>gg>naling>gg> cascades are hig>gg>hly conserved, and homolog>gg>s exist in yeast, Drosophila, and mammalian cells. MAPKKK5 contains 1,374 amino acids with all 11 kinase subdomains. Northern blot analysis shows that MAPKKK5 transcript is abundantly expressed in human heart and pancreas. The MAPKKK5 protein phosphorylates and activates MKK4 (aliases SERK1, MAPKK4) in vitro, and activates c-Jun N-terminal kinase (JNK)/stress-activated protein kinase (SAPK) during>gg> transient expression in COS and 293 cells; MAPKKK5 does not activate MAPK/ERK. [provided by RefSeq, Jul 2008]

RBMY1A1 Gene

RNA binding>gg> motif protein, Y-linked, family 1, member A1

This g>gg>ene encodes a protein containing>gg> an RNA-binding>gg> motif in the N-terminus and four SRg>Gg>Y (serine, arg>gg>inine, g>gg>lycine, tyrosine) boxes in the C-terminus. This protein is thoug>gg>ht to function as a splicing>gg> reg>gg>ulator during>gg> spermatog>gg>enesis. Multiple closely related paralog>gg>s of this g>gg>ene are found in a g>gg>ene cluster in the AZFb azoospermia factor reg>gg>ion of chromosome Y. Most of these related copies are thoug>gg>ht to be pseudog>gg>enes, thoug>gg>h several likely encode functional proteins. [provided by RefSeq, Mar 2016]

LOC101929000 Gene

g>gg>olg>gg>in subfamily A member 6-like protein 1

SMCO3 Gene

sing>gg>le-pass membrane protein with coiled-coil domains 3

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMCO2 Gene

sing>gg>le-pass membrane protein with coiled-coil domains 2

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMCO1 Gene

sing>gg>le-pass membrane protein with coiled-coil domains 1

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMCO4 Gene

sing>gg>le-pass membrane protein with coiled-coil domains 4

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

DZIP3 Gene

DAZ interacting>gg> zinc fing>gg>er protein 3

Enables several functions, including>gg> phosphatase binding>gg> activity; polyubiquitin modification-dependent protein binding>gg> activity; and ubiquitin-protein transferase activity. Involved in protein polyubiquitination. Located in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

DZIP1 Gene

DAZ interacting>gg> zinc fing>gg>er protein 1

Enables BBSome binding>gg> activity and molecular adaptor activity. Involved in cilium org>gg>anization; heart development; and protein-containing>gg> complex localization to centriolar satellite. Located in cytoplasm; microtubule org>gg>anizing>gg> center; and nucleoplasm. Implicated in mitral valve prolapse and spermatog>gg>enic failure 47. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL7L1P11 Gene

ribosomal protein L7-like 1 pseudog>gg>ene 11

KRTAP4-9 Gene

keratin associated protein 4-9

Involved in hair cycle. Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP4-8 Gene

keratin associated protein 4-8

Involved in hair cycle. Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP4-1 Gene

keratin associated protein 4-1

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal reg>gg>ions and are subdivided into three multi-g>gg>ene families according>gg> to amino acid composition: the hig>gg>h sulfur, the ultrahig>gg>h sulfur, and the hig>gg>h tyrosine/g>gg>lycine KAPs. This protein is a member of the ultrahig>gg>h sulfur KAP family and the g>gg>ene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

KRTAP4-3 Gene

keratin associated protein 4-3

Involved in hair cycle. Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP4-2 Gene

keratin associated protein 4-2

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal reg>gg>ions and are subdivided into three multi-g>gg>ene families according>gg> to amino acid composition: the hig>gg>h sulfur, the ultrahig>gg>h sulfur, and the hig>gg>h tyrosine/g>gg>lycine KAPs. This protein is a member of the ultrahig>gg>h sulfur KAP family and the g>gg>ene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

KRTAP4-5 Gene

keratin associated protein 4-5

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal reg>gg>ions and are subdivided into three multi-g>gg>ene families according>gg> to amino acid composition: the hig>gg>h sulfur, the ultrahig>gg>h sulfur, and the hig>gg>h tyrosine/g>gg>lycine KAPs. This protein is a member of the ultrahig>gg>h sulfur KAP family and the g>gg>ene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

KRTAP4-4 Gene

keratin associated protein 4-4

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal reg>gg>ions and are subdivided into three multi-g>gg>ene families according>gg> to amino acid composition: the hig>gg>h sulfur, the ultrahig>gg>h sulfur, and the hig>gg>h tyrosine/g>gg>lycine KAPs. This protein is a member of the ultrahig>gg>h sulfur KAP family and the g>gg>ene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

KRTAP4-7 Gene

keratin associated protein 4-7

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal reg>gg>ions and are subdivided into three multi-g>gg>ene families according>gg> to amino acid composition: the hig>gg>h sulfur, the ultrahig>gg>h sulfur, and the hig>gg>h tyrosine/g>gg>lycine KAPs. This protein is a member of the ultrahig>gg>h sulfur KAP family and the g>gg>ene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Mar 2009]

KRTAP4-6 Gene

keratin associated protein 4-6

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PTCSC1 Gene

papillary thyroid carcinoma susceptibility candidate 1 (non-protein coding>gg>)

PTCSC3 Gene

papillary thyroid carcinoma susceptibility candidate 3 (non-protein coding>gg>)

KRTAP12-1 Gene

keratin associated protein 12-1

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP12-3 Gene

keratin associated protein 12-3

Enables identical protein binding>gg> activity. Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP12-2 Gene

keratin associated protein 12-2

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TP53 Gene

tumor protein p53

This g>gg>ene encodes a tumor suppressor protein containing>gg> transcriptional activation, DNA binding>gg>, and olig>gg>omerization domains. The encoded protein responds to diverse cellular stresses to reg>gg>ulate expression of targ>gg>et g>gg>enes, thereby inducing>gg> cell cycle arrest, apoptosis, senescence, DNA repair, or chang>gg>es in metabolism. Mutations in this g>gg>ene are associated with a variety of human cancers, including>gg> hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing>gg> of this g>gg>ene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]

KRTAP12-4 Gene

keratin associated protein 12-4

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105377805 Gene

basic salivary proline-rich protein 3-like

RBFOX2 Gene

RNA binding>gg> protein, fox-1 homolog>gg> (C. eleg>gg>ans) 2

This g>gg>ene is one of several human g>gg>enes similar to the C. eleg>gg>ans g>gg>ene Fox-1. This g>gg>ene encodes an RNA binding>gg> protein that is thoug>gg>ht to be a key reg>gg>ulator of alternative exon splicing>gg> in the nervous system and other cell types. The protein binds to a conserved Ug>Gg>CAUg>Gg> element found downstream of many alternatively spliced exons and promotes inclusion of the alternative exon in mature transcripts. The protein also interacts with the estrog>gg>en g>receptorg> 1 transcription factor and reg>gg>ulates estrog>gg>en g>receptorg> 1 transcriptional activity. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

CNTNAP3P6 Gene

contactin associated protein-like 3 pseudog>gg>ene 6

RPL23AP30 Gene

ribosomal protein L23a pseudog>gg>ene 30

RPL23AP32 Gene

ribosomal protein L23a pseudog>gg>ene 32

This locus represents a transcribed pseudog>gg>ene of ribosomal protein L23a. [provided by RefSeq, Aug>gg> 2011]

RPL23AP34 Gene

ribosomal protein L23a pseudog>gg>ene 34

RPL23AP35 Gene

ribosomal protein L23a pseudog>gg>ene 35

RPL23AP36 Gene

ribosomal protein L23a pseudog>gg>ene 36

RPL23AP37 Gene

ribosomal protein L23a pseudog>gg>ene 37

RPL23AP38 Gene

ribosomal protein L23a pseudog>gg>ene 38

LINC01235 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1235

STRN Gene

striatin, calmodulin binding>gg> protein

Enables armadillo repeat domain binding>gg> activity; nuclear estrog>gg>en g>receptorg> binding>gg> activity; and protein phosphatase 2A binding>gg> activity. Involved in Wnt sig>gg>naling>gg> pathway and neg>gg>ative reg>gg>ulation of cell population proliferation. Located in bicellular tig>gg>ht junction. Part of FAR/SIN/STRIPAK complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL7P3 Gene

ribosomal protein L7 pseudog>gg>ene 3

RPL7P2 Gene

ribosomal protein L7 pseudog>gg>ene 2

RPL7P1 Gene

ribosomal protein L7 pseudog>gg>ene 1

RPL7P7 Gene

ribosomal protein L7 pseudog>gg>ene 7

RPL7P6 Gene

ribosomal protein L7 pseudog>gg>ene 6

RPL7P5 Gene

ribosomal protein L7 pseudog>gg>ene 5

RPL7P9 Gene

ribosomal protein L7 pseudog>gg>ene 9

RPL7P8 Gene

ribosomal protein L7 pseudog>gg>ene 8

LOC728048 Gene

interferon induced transmembrane protein pseudog>gg>ene

SECISBP2 Gene

SECIS binding>gg> protein 2

The protein encoded by this g>gg>ene is one of the essential components of the machinery involved in co-translational insertion of selenocysteine (Sec) into selenoproteins. Sec is encoded by the Ug>Gg>A codon, which normally sig>gg>nals translation termination. The recoding>gg> of Ug>Gg>A as Sec codon requires a Sec insertion sequence (SECIS) element; present in the 3' untranslated reg>gg>ions of eukaryotic selenoprotein mRNAs. This protein specifically binds to the SECIS element, which is stimulated by a Sec-specific translation elong>gg>ation factor. Mutations in this g>gg>ene have been associated with reduction in enzymatic activity of type II iodothyronine deiodinase (a selenoprotein) and abnormal thyroid hormone metabolism. Alternatively spliced transcript variants have been found for this g>gg>ene. [provided by RefSeq, Aug>gg> 2017]

TMEM167B Gene

transmembrane protein 167B

Involved in constitutive secretory pathway. Located in g>Gg>olg>gg>i apparatus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM167A Gene

transmembrane protein 167A

Involved in constitutive secretory pathway. Located in g>Gg>olg>gg>i apparatus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FBXL4 Gene

F-box and leucine-rich repeat protein 4

This g>gg>ene encodes a member of the F-box protein family, which are characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one subunit of modular E3 ubiquitin lig>gg>ase complexes, called SCF complexes, which function in phosphorylation-dependent ubiquitination. The F-box domain mediates protein-protein interactions and binds directly to S-phase kinase-associated protein 1. In addition to an F-box domain, the encoded protein contains at least 9 tandem leucine-rich repeats. The ubiquitin lig>gg>ase complex containing>gg> the encoded protein may function in cell-cycle control by reg>gg>ulating>gg> levels of lysine-specific demethylase 4A. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2013]

LOC126987 Gene

tig>gg>ht junction protein 3 (zona occludens 3) pseudog>gg>ene

ZNF587P1 Gene

zinc fing>gg>er protein 587 pseudog>gg>ene 1

ZNF569 Gene

zinc fing>gg>er protein 569

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF568 Gene

zinc fing>gg>er protein 568

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in embryonic placenta morphog>gg>enesis and neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF567 Gene

zinc fing>gg>er protein 567

Predicted to enable DNA-binding>gg> transcription factor activity and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF566 Gene

zinc fing>gg>er protein 566

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in membrane. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF565 Gene

zinc fing>gg>er protein 565

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF564 Gene

zinc fing>gg>er protein 564

Predicted to enable DNA-binding>gg> transcription factor activity and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF563 Gene

zinc fing>gg>er protein 563

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF562 Gene

zinc fing>gg>er protein 562

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF561 Gene

zinc fing>gg>er protein 561

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ACRBP Gene

acrosin binding>gg> protein

The protein encoded by this g>gg>ene is similar to proacrosin binding>gg> protein sp32 precursor found in mouse, g>gg>uinea pig>gg>, and pig>gg>. This protein is located in the sperm acrosome and is thoug>gg>ht to function as a binding>gg> protein to proacrosin for packag>gg>ing>gg> and condensation of the acrosin zymog>gg>en in the acrosomal matrix. This protein is a member of the cancer/testis family of antig>gg>ens and it is found to be immunog>gg>enic. In normal tissues, this mRNA is expressed only in testis, whereas it is detected in a rang>gg>e of different tumor types such as bladder, breast, lung>gg>, liver, and colon. [provided by RefSeq, Jul 2008]

LINC01433 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1433

LINC01432 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1432

LINC01431 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1431

LINC01430 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1430

LOC100631354 Gene

SMAD specific E3 ubiquitin protein lig>gg>ase 2 pseudog>gg>ene

ZNF849P Gene

zinc fing>gg>er protein 849, pseudog>gg>ene

RPS17P10 Gene

ribosomal protein S17 pseudog>gg>ene 10

RPS17P13 Gene

ribosomal protein S17 pseudog>gg>ene 13

RPS17P14 Gene

ribosomal protein S17 pseudog>gg>ene 14

RPS17P15 Gene

ribosomal protein S17 pseudog>gg>ene 15

CAMK1g>Gg> Gene

calcium/calmodulin-dependent protein kinase Ig>Gg>

Predicted to enable calcium/calmodulin-dependent protein kinase activity and calmodulin binding>gg> activity. Predicted to be involved in sig>gg>nal transduction. Predicted to be located in g>Gg>olg>gg>i membrane and plasma membrane. Predicted to be part of calcium- and calmodulin-dependent protein kinase complex. Predicted to be active in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS17P17 Gene

ribosomal protein S17 pseudog>gg>ene 17

LOC338667 Gene

V-set and immunog>gg>lobulin domain-containing>gg> protein 10-like

Predicted to enable cell adhesion molecule binding>gg> activity. Predicted to be involved in cell-cell adhesion. Predicted to be located in membrane. Predicted to be active in cell-cell junction and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC01299 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1299

LINC01293 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1293

LINC01291 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1291

CNTNAP3P1 Gene

contactin associated protein-like 3 pseudog>gg>ene 1

RPL37 Gene

ribosomal protein L37

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 60S subunit. The protein belong>gg>s to the L37E family of ribosomal proteins. It is located in the cytoplasm. The protein contains a C2C2-type zinc fing>gg>er-like motif. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

NUMA1 Gene

nuclear mitotic apparatus protein 1

This g>gg>ene encodes a larg>gg>e protein that forms a structural component of the nuclear matrix. The encoded protein interacts with microtubules and plays a role in the formation and org>gg>anization of the mitotic spindle during>gg> cell division. Chromosomal translocation of this g>gg>ene with the RARA (retinoic acid g>receptorg>, alpha) g>gg>ene on chromosome 17 have been detected in patients with acute promyelocytic leukemia. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Nov 2013]

RPL31 Gene

ribosomal protein L31

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 60S subunit. The protein belong>gg>s to the L31E family of ribosomal proteins. It is located in the cytoplasm. Hig>gg>her levels of expression of this g>gg>ene in familial adenomatous polyps compared to matched normal tissues have been observed. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

MRPL37P1 Gene

mitochondrial ribosomal protein L37 pseudog>gg>ene 1

PANO1 Gene

proapoptotic nucleolar protein 1

Involved in neg>gg>ative reg>gg>ulation of proteasomal ubiquitin-dependent protein catabolic process; positive reg>gg>ulation of apoptotic process; and reg>gg>ulation of protein stability. Located in nucleolus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC102724474 Gene

WAS/WASL-interacting>gg> protein family member 2-like

ZNF169 Gene

zinc fing>gg>er protein 169

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL7AP73 Gene

ribosomal protein L7a pseudog>gg>ene 73

RPS27AP9 Gene

ribosomal protein S27a pseudog>gg>ene 9

RPS27AP8 Gene

ribosomal protein S27a pseudog>gg>ene 8

RPS27AP5 Gene

ribosomal protein S27a pseudog>gg>ene 5

RPS27AP4 Gene

ribosomal protein S27a pseudog>gg>ene 4

RPS27AP7 Gene

ribosomal protein S27a pseudog>gg>ene 7

RPS27AP1 Gene

ribosomal protein S27a pseudog>gg>ene 1

RPS27AP3 Gene

ribosomal protein S27a pseudog>gg>ene 3

RPS27AP2 Gene

ribosomal protein S27a pseudog>gg>ene 2

RBMY2YP Gene

RNA binding>gg> motif protein, Y-linked, family 2, member Y pseudog>gg>ene

LOC643043 Gene

protein shisa-5 pseudog>gg>ene

ZNF286A Gene

zinc fing>gg>er protein 286A

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in membrane. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL7AP72 Gene

ribosomal protein L7a pseudog>gg>ene 72

ZNF286B Gene

zinc fing>gg>er protein 286B

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF160 Gene

zinc fing>gg>er protein 160

The protein encoded by this g>gg>ene is a Kruppel-related zinc fing>gg>er protein which is characterized by the presence of an N-terminal repressor domain, the Kruppel-associated box (KRAB). The KRAB domain is a potent repressor of transcription; thus this protein may function in transcription reg>gg>ulation. Multiple transcript variants have been found for this g>gg>ene. [provided by RefSeq, Apr 2016]

CASC23 Gene

cancer susceptibility candidate 23 (non-protein coding>gg>)

STRBP Gene

spermatid perinuclear RNA binding>gg> protein

Enables RNA binding>gg> activity. Predicted to be involved in cell differentiation and spermatog>gg>enesis. Predicted to act upstream of or within cell motility; mechanosensory behavior; and spermatid development. Located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CDY11P Gene

chromodomain protein, Y-linked 11 pseudog>gg>ene

g>Gg>ADD45g>Gg>IP1 Gene

g>gg>rowth arrest and DNA-damag>gg>e-inducible, g>gg>amma interacting>gg> protein 1

This g>gg>ene encodes a nuclear-localized protein that may be induced by p53 and reg>gg>ulates the cell cycle by inhibiting>gg> g>Gg>1 to S phase prog>gg>ression. The encoded protein may interact with other cell cycle reg>gg>ulators. [provided by RefSeq, Aug>gg> 2012]

LOC101929254 Gene

leucine-rich repeat-containing>gg> protein 37B-like

EMC9 Gene

ER membrane protein complex subunit 9

Contributes to membrane insertase activity. Involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Located in cytoplasm. Part of EMC complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

EMC8 Gene

ER membrane protein complex subunit 8

Contributes to membrane insertase activity. Involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Located in g>Gg>olg>gg>i apparatus and endoplasmic reticulum. Part of EMC complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

EMC3 Gene

ER membrane protein complex subunit 3

Contributes to membrane insertase activity. Involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Located in endoplasmic reticulum membrane. Part of EMC complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

EMC2 Gene

ER membrane protein complex subunit 2

Contributes to membrane insertase activity. Involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Located in endoplasmic reticulum membrane. Is extrinsic component of endoplasmic reticulum membrane. Part of EMC complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

EMC1 Gene

ER membrane protein complex subunit 1

This g>gg>ene encodes a sing>gg>le-pass type I transmembrane protein, which is a subunit of the endoplasmic reticulum membrane protein complex (EMC). Multiple alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Sep 2012]

EMC7 Gene

ER membrane protein complex subunit 7

Contributes to membrane insertase activity. Involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Located in endoplasmic reticulum membrane. Part of EMC complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

EMC6 Gene

ER membrane protein complex subunit 6

Contributes to membrane insertase activity. Involved in autophag>gg>osome assembly; protein insertion into ER membrane by stop-transfer membrane-anchor sequence; and tail-anchored membrane protein insertion into ER membrane. Located in endoplasmic reticulum membrane and omeg>gg>asome membrane. Part of EMC complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

EMC4 Gene

ER membrane protein complex subunit 4

Contributes to membrane insertase activity. Involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Located in endoplasmic reticulum membrane. Part of EMC complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC01165 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1165

LOC100133495 Gene

HERV-K_11q22.1 provirus ancestral Pol protein [Includes: Reverse transcriptase

LOC729545 Gene

WBSCR19-like protein 5-like

LOC102723796 Gene

transducin-like enhancer protein 2

Predicted to enable transcription corepressor activity. Predicted to be involved in neg>gg>ative reg>gg>ulation of canonical Wnt sig>gg>naling>gg> pathway. Predicted to be part of transcription reg>gg>ulator complex. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CRPP1 Gene

C-reactive protein pseudog>gg>ene 1

LOC101929927 Gene

putative protein FAM90A16P/FAM90A17P

LOC101927562 Gene

putative uncharacterized protein C11orf81

MIMT1 Gene

MER1 repeat containing>gg> imprinted transcript 1 (non-protein coding>gg>)

FAM99A Gene

family with sequence similarity 99, member A (non-protein coding>gg>)

FAM99B Gene

family with sequence similarity 99, member B (non-protein coding>gg>)

COTL1 Gene

coactosin-like F-actin binding>gg> protein 1

This g>gg>ene encodes one of the numerous actin-binding>gg> proteins which reg>gg>ulate the actin cytoskeleton. This protein binds F-actin, and also interacts with 5-lipoxyg>gg>enase, which is the first committed enzyme in leukotriene biosynthesis. Althoug>gg>h this g>gg>ene has been reported to map to chromosome 17 in the Smith-Mag>gg>enis syndrome reg>gg>ion, the best alig>gg>nments for this g>gg>ene are to chromosome 16. The Smith-Mag>gg>enis syndrome reg>gg>ion is the site of two related pseudog>gg>enes. [provided by RefSeq, Jul 2008]

CENPO Gene

centromere protein O

This g>gg>ene encodes a component of the interphase centromere complex. The encoded protein is localized to the centromere throug>gg>hout the cell cycle and is required for bipolar spindle assembly, chromosome seg>gg>reg>gg>ation and checkpoint sig>gg>naling>gg> during>gg> mitosis. Alternatively spliced transcript variants encoding>gg> multiple protein isoforms have been observed for this g>gg>ene. [provided by RefSeq, Dec 2010]

CENPN Gene

centromere protein N

The protein encoded by this g>gg>ene forms part of the nucleosome-associated complex and is important for kinetochore assembly. It is bound to kinetochores during>gg> S phase and g>Gg>2 and recruits other proteins to the centromere. Pseudog>gg>enes of this g>gg>ene are located on chromosome 2. Alternative splicing>gg> results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]

CENPM Gene

centromere protein M

The protein encoded by this g>gg>ene is an inner protein of the kinetochore, the multi-protein complex that binds spindle microtubules to reg>gg>ulate chromosome seg>gg>reg>gg>ation during>gg> cell division. It belong>gg>s to the constitutive centromere-associated network protein g>gg>roup, whose members interact with outer kinetochore proteins and help to maintain centromere identity at each cell division cycle. The protein is structurally related to g>Gg>TPases but cannot bind g>gg>uanosine triphosphate. A point mutation that affects interaction with another constitutive centromere-associated network protein, CENP-I, impairs kinetochore assembly and chromosome alig>gg>nment, sug>gg>g>gg>esting>gg> that it is required for kinetochore formation. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jan 2015]

CENPL Gene

centromere protein L

CENPL is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targ>gg>ets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic prog>gg>ression (Okada et al., 2006) [PubMed 16622420].[supplied by OMIM, Mar 2008]

CENPK Gene

centromere protein K

CENPK is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targ>gg>ets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic prog>gg>ression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008]

CENPJ Gene

centromere protein J

This g>gg>ene encodes a protein that belong>gg>s to the centromere protein family. During>gg> cell division, this protein plays a structural role in the maintenance of centrosome integ>gg>rity and normal spindle morpholog>gg>y, and it is involved in microtubule disassembly at the centrosome. This protein can function as a transcriptional coactivator in the Stat5 sig>gg>naling>gg> pathway, and also as a coactivator of NF-kappaB-mediated transcription, likely via its interaction with the coactivator p300/CREB-binding>gg> protein. Mutations in this g>gg>ene are associated with primary autosomal recessive microcephaly, a disorder characterized by severely reduced brain size and cog>gg>nitive disability. Alternatively spliced transcript variants have been found for this g>gg>ene. [provided by RefSeq, Apr 2012]

CENPI Gene

centromere protein I

This g>gg>ene encodes a centromere protein that is a component of the CENPA-NAC (nucleosome-associated) complex. This complex is critical for accurate chromosome alig>gg>nment and seg>gg>reg>gg>ation and it ensures proper mitotic prog>gg>ression. This protein reg>gg>ulates the recruitment of kinetochore-associated proteins that are required to g>gg>enerate the spindle checkpoint sig>gg>nal. The product of this g>gg>ene is involved in the response of g>gg>onadal tissues to follicle-stimulating>gg> hormone. Mutations in this g>gg>ene may be involved in human X-linked disorders of g>gg>onadal development and g>gg>ametog>gg>enesis. Alternate splicing>gg> results in multiple transcript variants. A pseudog>gg>ene of this g>gg>ene is found on chromosome 13. [provided by RefSeq, Jan 2016]

CENPH Gene

centromere protein H

Centromere and kinetochore proteins play a critical role in centromere structure, kinetochore formation, and sister chromatid separation. The protein encoded by this g>gg>ene colocalizes with inner kinetochore plate proteins CENP-A and CENP-C in both interphase and metaphase. It localizes outside of centromeric heterochromatin, where CENP-B is localized, and inside the kinetochore corona, where CENP-E is localized during>gg> prometaphase. It is thoug>gg>ht that this protein can bind to itself, as well as to CENP-A, CENP-B or CENP-C. Multimers of the protein localize constitutively to the inner kinetochore plate and play an important role in the org>gg>anization and function of the active centromere-kinetochore complex. [provided by RefSeq, Jul 2008]

CENPF Gene

centromere protein F, 350/400kDa

This g>gg>ene encodes a protein that associates with the centromere-kinetochore complex. The protein is a component of the nuclear matrix during>gg> the g>Gg>2 phase of interphase. In late g>Gg>2 the protein associates with the kinetochore and maintains this association throug>gg>h early anaphase. It localizes to the spindle midzone and the intracellular bridg>gg>e in late anaphase and telophase, respectively, and is thoug>gg>ht to be subsequently deg>gg>raded. The localization of this protein sug>gg>g>gg>ests that it may play a role in chromosome seg>gg>reg>gg>ation during>gg> mitotis. It is thoug>gg>ht to form either a homodimer or heterodimer. Autoantibodies ag>gg>ainst this protein have been found in patients with cancer or g>gg>raft versus host disease. [provided by RefSeq, Jul 2008]

CENPE Gene

centromere protein E, 312kDa

Centrosome-associated protein E (CENPE) is a kinesin-like motor protein that accumulates in the g>Gg>2 phase of the cell cycle. Unlike other centrosome-associated proteins, it is not present during>gg> interphase and first appears at the centromere reg>gg>ion of chromosomes during>gg> prometaphase. This protein is required for stable spindle microtubule capture at kinetochores which is a necessary step in chromosome alig>gg>nment during>gg> prometaphase. This protein also couples chromosome position to microtubule depolymerizing>gg> activity. Alternative splicing>gg> results in multiple transcript variants encoding>gg> distinct protein isoforms. [provided by RefSeq, Nov 2014]

HYMAI Gene

hydatidiform mole associated and imprinted (non-protein coding>gg>)

This g>gg>ene, which encodes a non-protein coding>gg> transcript, exhibits differential DNA methylation between the two parental alleles at an adjacent Cpg>Gg> island, and is expressed only from the paternal allele. It is believed to be one of the causative g>gg>enes for transient neonatal diabetes mellitus (TNDM), which is a rare disease characterized by intrauterine g>gg>rowth retardation, dehydration, and failure to thrive due to a lack of normal insulin secretion. [provided by RefSeq, Oct 2010]

LOC392226 Gene

serine/threonine-protein kinase PLK1-like

SSH2 Gene

sling>gg>shot protein phosphatase 2

This g>gg>ene encodes a protein tyrosine phosphatase that plays a key role in the reg>gg>ulation of actin filaments. The encoded protein dephosphorylates and activates cofilin, which promotes actin filament depolymerization. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Aug>gg> 2013]

SSH3 Gene

sling>gg>shot protein phosphatase 3

The ADF (actin-depolymerizing>gg> factor)/cofilin family (see MIM 601442) is composed of stimulus-responsive mediators of actin dynamics. ADF/cofilin proteins are inactivated by kinases such as LIM domain kinase-1 (LIMK1; MIM 601329). The SSH family appears to play a role in actin dynamics by reactivating>gg> ADF/cofilin proteins in vivo (Niwa et al., 2002 [PubMed 11832213]).[supplied by OMIM, Mar 2008]

SSH1 Gene

sling>gg>shot protein phosphatase 1

The protein encoded by this g>gg>ene belong>gg>s to the sling>gg>shot homolog>gg> (SSH) family of phosphatases, which reg>gg>ulate actin filament dynamics. The SSH proteins dephosphorylate and activate the actin binding>gg>/depolymerizing>gg> factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly. Cofilin is inactivated by kinases such as LIM domain kinase-1 (LIMK1), which may also be dephosphorylated and inactivated by SSH proteins. The SSH family thus appears to play a role in actin dynamics by reactivating>gg> cofilin proteins. Alternatively spliced transcript variants encoding>gg> different isoforms have been described for this g>gg>ene. [provided by RefSeq, Aug>gg> 2011]

CENPW Gene

centromere protein W

Predicted to enable DNA binding>gg> activity and protein heterodimerization activity. Involved in chromosome seg>gg>reg>gg>ation; kinetochore assembly; and mitotic cell cycle. Located in kinetochore and nucleoplasm. Part of inner kinetochore. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CENPV Gene

centromere protein V

Predicted to enable carbon-sulfur lyase activity and metal ion binding>gg> activity. Involved in several processes, including>gg> centromere complex assembly; pericentric heterochromatin formation; and positive reg>gg>ulation of cytokinesis. Acts upstream of or within ameboidal-type cell mig>gg>ration. Located in several cellular components, including>gg> midbody; nucleus; and spindle midzone. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CENPU Gene

centromere protein U

The centromere is a specialized chromatin domain, present throug>gg>hout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during>gg> mitosis. All active centromeres are characterized by the presence of long>gg> arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). MLF1IP, or CENPU, is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM, Mar 2008]

CENPT Gene

centromere protein T

The centromere is a specialized chromatin domain, present throug>gg>hout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during>gg> mitosis. All active centromeres are characterized by the presence of long>gg> arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). CENPT is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM, Mar 2008]

CENPQ Gene

centromere protein Q

CENPQ is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targ>gg>ets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic prog>gg>ression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008]

UCA1 Gene

urothelial cancer associated 1 (non-protein coding>gg>)

This g>gg>ene produces a long>gg> non-coding>gg> RNA that was found to be upreg>gg>ulated in bladder cancer and plays a reg>gg>ulatory role in cell proliferation. This transcript reg>gg>ulates several g>gg>enes, including>gg> CREB (cAMP responsive element binding>gg> protein). Expression of this transcript is reg>gg>ulated by CCAAT/enhancer-binding>gg> protein-alpha. [provided by RefSeq, Dec 2017]

CABIN1 Gene

calcineurin binding>gg> protein 1

Calcineurin plays an important role in the T-cell g>receptorg>-mediated sig>gg>nal transduction pathway. The protein encoded by this g>gg>ene binds specifically to the activated form of calcineurin and inhibits calcineurin-mediated sig>gg>nal transduction. The encoded protein is found in the nucleus and contains a leucine zipper domain as well as several PEST motifs, sequences which confer targ>gg>eted deg>gg>radation to those proteins which contain them. Alternative splicing>gg> results in multiple transcript variants encoding>gg> two different isoforms. [provided by RefSeq, Jan 2011]

LOC100422449 Gene

TIA1 cytotoxic g>gg>ranule-associated RNA binding>gg> protein-like 1 pseudog>gg>ene

RPSAP45 Gene

ribosomal protein SA pseudog>gg>ene 45

RPSAP44 Gene

ribosomal protein SA pseudog>gg>ene 44

RPSAP47 Gene

ribosomal protein SA pseudog>gg>ene 47

Althoug>gg>h this locus has an open reading>gg> frame that could produce a protein of the same or nearly the same size as that of the RPSA g>gg>ene, there is no convincing>gg> evidence of transcription. It is thus being>gg> annotated as a pseudog>gg>ene.[provided by RefSeq, Feb 2009]

RPSAP46 Gene

ribosomal protein SA pseudog>gg>ene 46

ZNF768 Gene

zinc fing>gg>er protein 768

Enables sequence-specific double-stranded DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in chromosome. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPSAP43 Gene

ribosomal protein SA pseudog>gg>ene 43

RPSAP42 Gene

ribosomal protein SA pseudog>gg>ene 42

ZNF765 Gene

zinc fing>gg>er protein 765

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF764 Gene

zinc fing>gg>er protein 764

Enables transcription coreg>gg>ulator activity. Involved in cellular response to g>gg>lucocorticoid stimulus. Is active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF766 Gene

zinc fing>gg>er protein 766

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF761 Gene

zinc fing>gg>er protein 761

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPSAP48 Gene

ribosomal protein SA pseudog>gg>ene 48

ZNF763 Gene

zinc fing>gg>er protein 763

Predicted to enable DNA-binding>gg> transcription factor activity and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RBMY2FP Gene

RNA binding>gg> motif protein, Y-linked, family 2, member F pseudog>gg>ene

TTPAL Gene

tocopherol (alpha) transfer protein-like

Predicted to enable phosphatidylinositol bisphosphate binding>gg> activity. Located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP5-4 Gene

keratin associated protein 5-4

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP5-5 Gene

keratin associated protein 5-5

Predicted to act upstream of or within hematopoietic prog>gg>enitor cell differentiation. Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP5-6 Gene

keratin associated protein 5-6

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP5-7 Gene

keratin associated protein 5-7

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP5-1 Gene

keratin associated protein 5-1

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP5-2 Gene

keratin associated protein 5-2

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP5-3 Gene

keratin associated protein 5-3

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP5-8 Gene

keratin associated protein 5-8

Predicted to be a structural constituent of skin epidermis. Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP5-9 Gene

keratin associated protein 5-9

Enables identical protein binding>gg> activity. Predicted to be involved in epidermis development. Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL13P Gene

ribosomal protein L13 pseudog>gg>ene

LOC100289473 Gene

cytoskeleton associated protein 2-like pseudog>gg>ene

FAM177A1P1 Gene

Putative protein FAM177A2

PDIA3P1 Gene

protein disulfide isomerase family A, member 3 pseudog>gg>ene 1

LINC00944 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 944

LINC00945 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 945

LINC00941 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 941

Enables promoter-enhancer loop anchoring>gg> activity. Involved in chromatin looping>gg> and positive reg>gg>ulation of transcription by RNA polymerase II. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00942 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 942

LINC00943 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 943

Pg>Gg>g>Gg>T1B Gene

protein g>gg>eranylg>gg>eranyltransferase type I, beta subunit

Protein g>gg>eranylg>gg>eranyltransferase type I (g>Gg>g>Gg>Tase-I) transfers a g>gg>eranylg>gg>eranyl g>gg>roup to the cysteine residue of candidate proteins containing>gg> a C-terminal CAAX motif in which 'A' is an aliphatic amino acid and 'X' is leucine (summarized by Zhang>gg> et al., 1994 [PubMed 8106351]). The enzyme is composed of a 48-kD alpha subunit (FNTA; MIM 134635) and a 43-kD beta subunit, encoded by the Pg>Gg>g>Gg>T1B g>gg>ene. The FNTA g>gg>ene encodes the alpha subunit for both g>Gg>g>Gg>Tase-I and the related enzyme farnesyltransferase.[supplied by OMIM, Mar 2010]

FAM224B Gene

family with sequence similarity 224, member B (non-protein coding>gg>)

This locus is transcribed but does not appear to encode a protein. Two identical copies of this g>gg>ene are present in a palindromic reg>gg>ion on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

FAM224A Gene

family with sequence similarity 224, member A (non-protein coding>gg>)

This locus is transcribed but does not appear to encode a protein. Two identical copies of this g>gg>ene are present in a palindromic reg>gg>ion on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

FAM90A15P Gene

putative protein FAM90A15

FAM90A15 belong>gg>s to subfamily II of the primate-specific FAM90A g>gg>ene family, which orig>gg>inated from multiple duplications and rearrang>gg>ements (Bosch et al., 2007 [PubMed 17684299]). For backg>gg>round information on the FAM90A g>gg>ene family, as well as information on the evolution of FAM90A g>gg>enes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009]

FNBP1L Gene

formin binding>gg> protein 1-like

The protein encoded by this g>gg>ene binds to both CDC42 and N-WASP. This protein promotes CDC42-induced actin polymerization by activating>gg> the N-WASP-WIP complex and, therefore, is involved in a pathway that links cell surface sig>gg>nals to the actin cytoskeleton. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Jul 2008]

RBM33 Gene

RNA binding>gg> motif protein 33

Enables N6-methyladenosine-containing>gg> RNA reader activity and lncRNA binding>gg> activity. Involved in RNA export from nucleus and reg>gg>ulation of mRNA stability. Located in cytoplasm. Is active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RBM39 Gene

RNA binding>gg> motif protein 39

This g>gg>ene encodes a member of the U2AF65 family of proteins. The encoded protein is found in the nucleus, where it co-localizes with core spliceosomal proteins. It has been shown to play a role in both steroid hormone g>receptorg>-mediated transcription and alternative splicing>gg>, and it is also a transcriptional coreg>gg>ulator of the viral oncoprotein v-Rel. Multiple transcript variants have been observed for this g>gg>ene. A related pseudog>gg>ene has been identified on chromosome X. [provided by RefSeq, Aug>gg> 2011]

RBM38 Gene

RNA binding>gg> motif protein 38

Enables mRNA 3'-UTR binding>gg> activity. Involved in DNA damag>gg>e response, sig>gg>nal transduction by p53 class mediator; neg>gg>ative reg>gg>ulation of cell population proliferation; and reg>gg>ulation of g>gg>ene expression. Located in cytosol and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MCMBP Gene

minichromosome maintenance complex binding>gg> protein

This g>gg>ene encodes a protein which is a component of the hexameric minichromosome maintenance (MCM) complex which reg>gg>ulates initiation and elong>gg>ation of DNA. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jan 2012]

LOC100133182 Gene

putative uncharacterized protein FLJ44672

LOC199882 Gene

phosphodiesterase 4D interacting>gg> protein-like

RASIP1 Gene

Ras interacting>gg> protein 1

Enables g>Gg>TPase binding>gg> activity and protein homodimerization activity. Involved in several processes, including>gg> neg>gg>ative reg>gg>ulation of Rho protein sig>gg>nal transduction; neg>gg>ative reg>gg>ulation of metabolic process; and positive reg>gg>ulation of integ>gg>rin activation. Located in cell-cell junction. Part of protein-containing>gg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC101060581 Gene

arf-g>Gg>AP with g>Gg>TPase, ANK repeat and PH domain-containing>gg> protein 5-like

RPL12P44 Gene

ribosomal protein L12 pseudog>gg>ene 44

ZNF34 Gene

zinc fing>gg>er protein 34

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Located in cytosol and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF35 Gene

zinc fing>gg>er protein 35

Enables DNA-binding>gg> transcription factor activity and sequence-specific DNA binding>gg> activity. Predicted to be involved in cellular response to retinoic acid; reg>gg>ulation of transcription by RNA polymerase II; and spermatog>gg>enesis. Located in nucleus and perinuclear reg>gg>ion of cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF32 Gene

zinc fing>gg>er protein 32

Enables sequence-specific double-stranded DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF30 Gene

zinc fing>gg>er protein 30

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL12P42 Gene

ribosomal protein L12 pseudog>gg>ene 42

KRTAP16-1 Gene

keratin associated protein 16-1

Predicted to enable structural molecule activity. Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NSRP1P1 Gene

nuclear speckle splicing>gg> reg>gg>ulatory protein 1 pseudog>gg>ene 1

YBX1P5 Gene

Y box binding>gg> protein 1 pseudog>gg>ene 5

YBX1P2 Gene

Y box binding>gg> protein 1 pseudog>gg>ene 2

LOC105369244 Gene

putative uncharacterized protein LOC641298

LOC105369245 Gene

FERM and PDZ domain-containing>gg> protein 2

LOC102725009 Gene

putative beta-g>gg>lucuronidase-like protein Mg>Gg>C156142

LOC102725004 Gene

uncharacterized protein FLJ40521-like

ZNF804A Gene

zinc fing>gg>er protein 804A

The protein encoded by this g>gg>ene is a zinc fing>gg>er binding>gg> protein. Polymorphisms in this g>gg>ene, especially rs1344706, are thoug>gg>ht to confer increased susceptibility to schizophrenia, bipolar disorder, and heroin addiciton. [provided by RefSeq, Nov 2015]

ZNF804B Gene

zinc fing>gg>er protein 804B

Predicted to enable metal ion binding>gg> activity. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FLJ31713 Gene

uncharacterized protein FLJ31713

LOC101927764 Gene

serine/arg>gg>inine repetitive matrix protein 1-like

RPL35AP31 Gene

ribosomal protein L35a pseudog>gg>ene 31

RPL35AP30 Gene

ribosomal protein L35a pseudog>gg>ene 30

RPL35AP33 Gene

ribosomal protein L35a pseudog>gg>ene 33

RPL35AP32 Gene

ribosomal protein L35a pseudog>gg>ene 32

RPL35AP35 Gene

ribosomal protein L35a pseudog>gg>ene 35

RPL35AP34 Gene

ribosomal protein L35a pseudog>gg>ene 34

RPL35AP37 Gene

ribosomal protein L35a pseudog>gg>ene 37

RPL35AP36 Gene

ribosomal protein L35a pseudog>gg>ene 36

HSP90AB7P Gene

heat shock protein 90kDa alpha (cytosolic), class B member 7, pseudog>gg>ene

CAB39L Gene

calcium binding>gg> protein 39-like

Predicted to enable protein serine/threonine kinase activator activity. Predicted to be involved in intracellular sig>gg>nal transduction. Predicted to be located in cytosol. Predicted to be part of cytoplasm and serine/threonine protein kinase complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00535 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 535

LINC00534 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 534

LINC00537 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 537

Predicted to be a structural constituent of ribosome. Predicted to be located in ribosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00536 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 536

LINC00533 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 533

LINC00539 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 539

LINC00538 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 538

HIRIP3 Gene

HIRA interacting>gg> protein 3

The HIRA protein shares sequence similarity with Hir1p and Hir2p, the two corepressors of histone g>gg>ene transcription characterized in the yeast, Saccharomyces cerevisiae. The structural features of the HIRA protein sug>gg>g>gg>est that it may function as part of a multiprotein complex. Several cDNAs encoding>gg> HIRA-interacting>gg> proteins, or HIRIPs, have been identified. In vitro, the protein encoded by this g>gg>ene binds HIRA, as well as H2B and H3 core histones, indicating>gg> that a complex containing>gg> HIRA-HIRIP3 could function in some aspects of chromatin and histone metabolism. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been found for this g>gg>ene.[provided by RefSeq, Aug>gg> 2011]

RBPMS2 Gene

RNA binding>gg> protein with multiple splicing>gg> 2

The protein encoded by this g>gg>ene is a member of the RNA recog>gg>nition motif (RRM)-containing>gg> protein family and is involved in the development and dedifferentiation of dig>gg>estive smooth muscle cells. The encoded protein functions as a homodimer and indirectly inhibits the bone morphog>gg>enetic protein pathway. [provided by RefSeq, Aug>gg> 2016]

LUZP4P1 Gene

leucine zipper protein 4 pseudog>gg>ene 1

TMEM132C Gene

transmembrane protein 132C

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF658B Gene

zinc fing>gg>er protein 658B, pseudog>gg>ene

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RASA4CP Gene

RAS p21 protein activator 4C, pseudog>gg>ene

SMIM12P1 Gene

small integ>gg>ral membrane protein 12 pseudog>gg>ene 1

TENM3 Gene

teneurin transmembrane protein 3

This g>gg>ene encodes a member of the teneurin transmembrane protein family. The encoded protein may be involved in the reg>gg>ulation of neuronal development including>gg> development of the visual pathway. Mutations in this g>gg>ene have been associated with microphthalmia and developmental dysplasia of the hip. [provided by RefSeq, Jan 2023]

TENM2 Gene

teneurin transmembrane protein 2

Enables cell adhesion molecule binding>gg> activity and sig>gg>naling>gg> g>receptorg> binding>gg> activity. Involved in retrog>gg>rade trans-synaptic sig>gg>naling>gg> by trans-synaptic protein complex. Located in cell-cell junction and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TENM1 Gene

teneurin transmembrane protein 1

The protein encoded by this g>gg>ene belong>gg>s to the tenascin family and teneurin subfamily. It is expressed in the neurons and may function as a cellular sig>gg>nal transducer. Several alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Sep 2009]

TENM4 Gene

teneurin transmembrane protein 4

The protein encoded by this g>gg>ene plays a role in establishing>gg> proper neuronal connectivity during>gg> development. Defects in this g>gg>ene have been associated with hereditary essential tremor-5. [provided by RefSeq, Oct 2016]

LOC102723422 Gene

foot protein 1 variant 1-like

MRPS33P1 Gene

mitochondrial ribosomal protein S33 pseudog>gg>ene 1

MRPS33P2 Gene

mitochondrial ribosomal protein S33 pseudog>gg>ene 2

MRPS33P3 Gene

mitochondrial ribosomal protein S33 pseudog>gg>ene 3

MRPS33P4 Gene

mitochondrial ribosomal protein S33 pseudog>gg>ene 4

LOC441528 Gene

zinc fing>gg>er protein 839-like

LOC401261 Gene

zinc fing>gg>er protein ZIC 5

WHAMM Gene

WAS protein homolog>gg> associated with actin, g>gg>olg>gg>i membranes and microtubules

This g>gg>ene encodes a protein that plays a role in actin nucleation, g>Gg>olg>gg>i membrane association and microtubule binding>gg>. The encoded protein is a nucleation-promoting>gg> factor that reg>gg>ulates the Actin-related protein 2/3 complex. The activated complex initiates g>gg>rowth of new actin filaments by binding>gg> to existing>gg> actin filaments. The encoded protein also functions in reg>gg>ulation of transport from the endoplasmic reticulum to the g>Gg>olg>gg>i complex and in maintenance of the g>Gg>olg>gg>i complex near the centrosome. Four pseudog>gg>enes of this g>gg>ene are present on the same arm of chromosome 15 as this g>gg>ene. [provided by RefSeq, Aug>gg> 2013]

CFAP58 Gene

cilia and flag>gg>ella associated protein 58

Involved in protein localization to motile cilium; sperm axoneme assembly; and sperm mitochondrial sheath assembly. Located in sperm midpiece. Implicated in spermatog>gg>enic failure 49. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CFAP57 Gene

cilia and flag>gg>ella associated protein 57

This protein encoded by this g>gg>ene belong>gg>s to the WD repeat-containing>gg> family of proteins, which function in the formation of protein-protein complexes in a variety of biolog>gg>ical pathways. This family member is thoug>gg>ht to function in craniofacial development, possibly in the fusion of lip and palate. A missense mutation in this g>gg>ene is associated with Van der Woude syndrome 2. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants. [provided by RefSeq, Aug>gg> 2011]

TMEM39B Gene

transmembrane protein 39B

Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CFAP53 Gene

cilia and flag>gg>ella associated protein 53

This g>gg>ene belong>gg>s to the CFAP53 family. It was found to be differentially expressed by the ciliated cells of frog>gg> epidermis and in skin fibroblasts from human. Mutations in this g>gg>ene are associated with visceral heterotaxy-6, which implicates this g>gg>ene in determination of left-rig>gg>ht asymmetric patterning>gg>. [provided by RefSeq, Aug>gg> 2015]

TMEM39A Gene

transmembrane protein 39A

Involved in neg>gg>ative reg>gg>ulation of autophag>gg>osome assembly; neg>gg>ative reg>gg>ulation of autophag>gg>osome maturation; and positive reg>gg>ulation of viral g>gg>enome replication. Located in endoplasmic reticulum membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL36AP37 Gene

ribosomal protein L36a pseudog>gg>ene 37

LOC653406 Gene

NLR family, apoptosis inhibitory protein pseudog>gg>ene

NSAP11 Gene

nervous system abundant protein 11

MRPL57P10 Gene

mitochondrial ribosomal protein L57 pseudog>gg>ene 10

WWP1P1 Gene

WW domain containing>gg> E3 ubiquitin protein lig>gg>ase 1 pseudog>gg>ene 1

CASC22 Gene

cancer susceptibility candidate 22 (non-protein coding>gg>)

CASC20 Gene

cancer susceptibility candidate 20 (non-protein coding>gg>)

CASC21 Gene

cancer susceptibility candidate 21 (non-protein coding>gg>)

RPL9P20 Gene

ribosomal protein L9 pseudog>gg>ene 20

MUPP Gene

major urinary protein, pseudog>gg>ene

RPL9P22 Gene

ribosomal protein L9 pseudog>gg>ene 22

HSPA8P6 Gene

heat shock 70kDa protein 8 pseudog>gg>ene 6

RPL9P23 Gene

ribosomal protein L9 pseudog>gg>ene 23

CBL Gene

Cbl proto-oncog>gg>ene, E3 ubiquitin protein lig>gg>ase

This g>gg>ene is a proto-oncog>gg>ene that encodes a RINg>Gg> fing>gg>er E3 ubiquitin lig>gg>ase. The encoded protein is one of the enzymes required for targ>gg>eting>gg> substrates for deg>gg>radation by the proteasome. This protein mediates the transfer of ubiquitin from ubiquitin conjug>gg>ating>gg> enzymes (E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding>gg> domain that allows it to interact with numerous tyrosine-phosphorylated substrates and targ>gg>et them for proteasome deg>gg>radation. As such it functions as a neg>gg>ative reg>gg>ulator of many sig>gg>nal transduction pathways. This g>gg>ene has been found to be mutated or translocated in many cancers including>gg> acute myeloid leukaemia, and expansion of Cg>Gg>g>Gg> repeats in the 5' UTR has been associated with Jacobsen syndrome. Mutations in this g>gg>ene are also the cause of Noonan syndrome-like disorder. [provided by RefSeq, Jul 2016]

RPL21P7 Gene

ribosomal protein L21 pseudog>gg>ene 7

RPL21P4 Gene

ribosomal protein L21 pseudog>gg>ene 4

RPL21P5 Gene

ribosomal protein L21 pseudog>gg>ene 5

RPL21P2 Gene

ribosomal protein L21 pseudog>gg>ene 2

RPL21P3 Gene

ribosomal protein L21 pseudog>gg>ene 3

RPL21P1 Gene

ribosomal protein L21 pseudog>gg>ene 1

RPL21P8 Gene

ribosomal protein L21 pseudog>gg>ene 8

RPL21P9 Gene

ribosomal protein L21 pseudog>gg>ene 9

RPS20P15 Gene

ribosomal protein S20 pseudog>gg>ene 15

RPS20P18 Gene

ribosomal protein S20 pseudog>gg>ene 18

LOC105376666 Gene

putative uncharacterized protein FLJ44672

CIZ1 Gene

CDKN1A interacting>gg> zinc fing>gg>er protein 1

The protein encoded by this g>gg>ene is a zinc fing>gg>er DNA binding>gg> protein that interacts with CIP1, part of a complex with cyclin E. The encoded protein may reg>gg>ulate the cellular localization of CIP1. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Apr 2012]

Mg>Gg>C16142 Gene

uncharacterized protein Mg>Gg>C16142

PRKRIRP8 Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudog>gg>ene 8

PRKRIRP9 Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudog>gg>ene 9

PRKRIRP1 Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudog>gg>ene 1

PRKRIRP2 Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudog>gg>ene 2

PRKRIRP3 Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudog>gg>ene 3

PRKRIRP4 Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudog>gg>ene 4

PRKRIRP5 Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudog>gg>ene 5

PRKRIRP6 Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudog>gg>ene 6

PRKRIRP7 Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudog>gg>ene 7

SPON2 Gene

spondin 2, extracellular matrix protein

Predicted to enable antig>gg>en binding>gg> activity; lipopolysaccharide binding>gg> activity; and metal ion binding>gg> activity. Predicted to be involved in cell adhesion. Predicted to act upstream of or within several processes, including>gg> defense response to other org>gg>anism; opsonization; and positive reg>gg>ulation of cytokine production. Located in extracellular exosome. Biomarker of mening>gg>ioma. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SPON1 Gene

spondin 1, extracellular matrix protein

Predicted to enable LBD domain binding>gg> activity and metal ion binding>gg> activity. Predicted to be an extracellular matrix structural constituent. Predicted to be involved in cell adhesion. Predicted to act upstream of or within neg>gg>ative reg>gg>ulation of amyloid-beta formation; positive reg>gg>ulation of amyloid precursor protein catabolic process; and positive reg>gg>ulation of protein processing>gg>. Located in collag>gg>en-containing>gg> extracellular matrix and extracellular space. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100419458 Gene

ribosomal protein L21 pseudog>gg>ene

NCK1 Gene

NCK adaptor protein 1

The protein encoded by this g>gg>ene is one of the sig>gg>naling>gg> and transforming>gg> proteins containing>gg> Src homolog>gg>y 2 and 3 (SH2 and SH3) domains. It is located in the cytoplasm and is an adaptor protein involved in transducing>gg> sig>gg>nals from g>receptorg> tyrosine kinases to downstream sig>gg>nal recipients such as RAS. Alternatively spliced transcript variants encoding>gg> different isoforms have been found. [provided by RefSeq, Jun 2010]

NCK2 Gene

NCK adaptor protein 2

This g>gg>ene encodes a member of the NCK family of adaptor proteins. The protein contains three SH3 domains and one SH2 domain. The protein has no known catalytic function but has been shown to bind and recruit various proteins involved in the reg>gg>ulation of g>receptorg> protein tyrosine kinases. It is throug>gg>h these reg>gg>ulatory activities that this protein is believed to be involved in cytoskeletal reorg>gg>anization. Alternate transcriptional splice variants, encoding>gg> different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

TAF9P1 Gene

TAF9 RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor, 32kDa pseudog>gg>ene 1

TAF9P2 Gene

TAF9 RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor, 32kDa pseudog>gg>ene 2

TAF9P3 Gene

TAF9 RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor, 32kDa pseudog>gg>ene 3

RPL34P18 Gene

ribosomal protein L34 pseudog>gg>ene 18

RPL34P19 Gene

ribosomal protein L34 pseudog>gg>ene 19

LOC100133252 Gene

zinc fing>gg>er protein 131 pseudog>gg>ene

RPL34P12 Gene

ribosomal protein L34 pseudog>gg>ene 12

RPL34P13 Gene

ribosomal protein L34 pseudog>gg>ene 13

RPL34P10 Gene

ribosomal protein L34 pseudog>gg>ene 10

RPL34P11 Gene

ribosomal protein L34 pseudog>gg>ene 11

RPL34P16 Gene

ribosomal protein L34 pseudog>gg>ene 16

RPL34P17 Gene

ribosomal protein L34 pseudog>gg>ene 17

RPL34P14 Gene

ribosomal protein L34 pseudog>gg>ene 14

RPL34P15 Gene

ribosomal protein L34 pseudog>gg>ene 15

ZNF264 Gene

zinc fing>gg>er protein 264

This g>gg>ene encodes a zinc fing>gg>er protein and belong>gg>s to the krueppel C2H2-type zinc-fing>gg>er protein family. Zinc fing>gg>er proteins are often localized in the nucleus, bind nucleic acids, and reg>gg>ulate transcription. [provided by RefSeq, Jan 2010]

ZNF266 Gene

zinc fing>gg>er protein 266

This g>gg>ene encodes a protein containing>gg> many tandem zinc-fing>gg>er motifs. Zinc fing>gg>ers are protein or nucleic acid-binding>gg> domains, and may be involved in a variety of functions, including>gg> reg>gg>ulation of transcription. This g>gg>ene is located in a cluster of similar g>gg>enes encoding>gg> zinc fing>gg>er proteins on chromosome 19. Alternative splicing>gg> results in multiple transcript variants for this g>gg>ene. [provided by RefSeq, Sep 2012]

ZNF260 Gene

zinc fing>gg>er protein 260

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Located in cytosol and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF263 Gene

zinc fing>gg>er protein 263

Enables DNA-binding>gg> transcription repressor activity, RNA polymerase II-specific and transcription cis-reg>gg>ulatory reg>gg>ion binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II and positive reg>gg>ulation of transcription by RNA polymerase II. Located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF268 Gene

zinc fing>gg>er protein 268

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Involved in several processes, including>gg> positive reg>gg>ulation of non-canonical NF-kappaB sig>gg>nal transduction; reg>gg>ulation of apoptotic process; and reg>gg>ulation of primary metabolic process. Located in cytosol and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC101929775 Gene

C-Jun-amino-terminal kinase-interacting>gg> protein 1-like

LOC390998 Gene

ribosomal protein L10 pseudog>gg>ene

RPS4Y1P1 Gene

ribosomal protein S4Y pseudog>gg>ene 1

TPT1P9 Gene

tumor protein, translationally-controlled 1 pseudog>gg>ene 9

HSPBAP1 Gene

HSPB (heat shock 27kDa) associated protein 1

This g>gg>ene encodes a protein that binds to one of the small heat shock proteins, specifically hsp27. Hsp27 is involved with cell g>gg>rowth and differentiation. This encoded protein was found to be abnormally expressed in patients with intractable epilepsy, althoug>gg>h how brain function is affected remains unknown. [provided by RefSeq, Sep 2011]

S100A7A Gene

S100 calcium binding>gg> protein A7A

Enables identical protein binding>gg> activity. Predicted to act upstream of or within inflammatory response. Located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100652807 Gene

putative uncharacterized protein C3orf53

UQCRBP2 Gene

ubiquinol-cytochrome c reductase binding>gg> protein pseudog>gg>ene 2

UQCRBP3 Gene

ubiquinol-cytochrome c reductase binding>gg> protein pseudog>gg>ene 3

UQCRBP1 Gene

ubiquinol-cytochrome c reductase binding>gg> protein pseudog>gg>ene 1

TTTY9A Gene

testis-specific transcript, Y-linked 9A (non-protein coding>gg>)

This g>gg>ene is transcribed but does not appear to encode a protein. Two identical copies of this g>gg>ene are present in a palindromic reg>gg>ion (P4) on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

TTTY9B Gene

testis-specific transcript, Y-linked 9B (non-protein coding>gg>)

This g>gg>ene is transcribed but does not appear to encode a protein. Two identical copies of this g>gg>ene are present in a palindromic reg>gg>ion (P4) on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

RNF38 Gene

ring>gg> fing>gg>er protein 38

This g>gg>ene encodes a protein with a coiled-coil motif and a RINg>Gg>-H2 motif (C3H2C2) at its carboxy-terminus. The RINg>Gg> motif is a zinc-binding>gg> domain found in a larg>gg>e set of proteins playing>gg> roles in diverse cellular processes including>gg> oncog>gg>enesis, development, sig>gg>nal transduction, and apoptosis. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Dec 2008]

RNF39 Gene

ring>gg> fing>gg>er protein 39

This g>gg>ene lies within the major histocompatibility complex class I reg>gg>ion on chromosome 6. Studies of a similar rat protein sug>gg>g>gg>est that this g>gg>ene encodes a protein that plays a role in an early phase of synaptic plasticity. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

RNF32 Gene

ring>gg> fing>gg>er protein 32

The protein encoded by this g>gg>ene contains two RINg>Gg> ring>gg> fing>gg>er motifs. RINg>Gg> fing>gg>er motifs are present in a variety of functionally distinct proteins and are known to be involved in protein-DNA or protein-protein interactions. This g>gg>ene was found to be expressed during>gg> spermatog>gg>enesis, most likely in spermatocytes and/or in spermatids. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants. [provided by RefSeq, Apr 2015]

RNF31 Gene

ring>gg> fing>gg>er protein 31

The protein encoded by this g>gg>ene contains a RINg>Gg> fing>gg>er, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The encoded protein is the E3 ubiquitin-protein lig>gg>ase component of the linear ubiquitin chain assembly complex. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2015]

TPPP Gene

tubulin polymerization promoting>gg> protein

Enables several functions, including>gg> mag>gg>nesium ion binding>gg> activity; microtubule nucleator activity; and protein homodimerization activity. Involved in several processes, including>gg> microtubule cytoskeleton org>gg>anization; neg>gg>ative reg>gg>ulation of tubulin deacetylation; and positive reg>gg>ulation of protein polymerization. Located in several cellular components, including>gg> cytoskeleton; mitochondrion; and perinuclear reg>gg>ion of cytoplasm. Is active in g>Gg>olg>gg>i apparatus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SRP14P1 Gene

sig>gg>nal recog>gg>nition particle 14kDa (homolog>gg>ous Alu RNA binding>gg> protein) pseudog>gg>ene 1

LOC100132004 Gene

putative ankyrin repeat domain-containing>gg> protein 30B-like

LOC100419845 Gene

zinc fing>gg>er protein 415 pseudog>gg>ene

LOC100419844 Gene

zinc fing>gg>er protein 610 pseudog>gg>ene

LOC100419847 Gene

zinc fing>gg>er protein 436 pseudog>gg>ene

LOC100419841 Gene

zinc fing>gg>er protein 107 pseudog>gg>ene

LOC100419840 Gene

zinc fing>gg>er protein 446 pseudog>gg>ene

LOC100419842 Gene

zinc fing>gg>er protein 396 pseudog>gg>ene

LOC100128601 Gene

zinc fing>gg>er protein 770 pseudog>gg>ene

MPP3 Gene

membrane protein, palmitoylated 3 (MAg>Gg>UK p55 subfamily member 3)

This g>gg>ene product is a member of a family of membrane-associated proteins termed MAg>Gg>UKs (membrane-associated g>gg>uanylate kinase homolog>gg>s). MAg>Gg>UKs interact with the cytoskeleton and reg>gg>ulate cell proliferation, sig>gg>naling>gg> pathways, and intracellular junctions. This protein contains a conserved sequence, called the SH3 (src homolog>gg>y 3) motif, found in several other proteins that associate with the cytoskeleton and are suspected to play important roles in sig>gg>nal transduction. Alternatively spliced transcript variants have been identified. One transcript variant is experimentally supported, but it doesn't encode a protein. [provided by RefSeq, Jul 2008]

MPP2 Gene

membrane protein, palmitoylated 2 (MAg>Gg>UK p55 subfamily member 2)

Palmitoylated membrane protein 2 is a member of a family of membrane-associated proteins termed MAg>Gg>UKs (membrane-associated g>gg>uanylate kinase homolog>gg>s). MAg>Gg>UKs interact with the cytoskeleton and reg>gg>ulate cell proliferation, sig>gg>naling>gg> pathways, and intracellular junctions. Palmitoylated membrane protein 2 contains a conserved sequence, called the SH3 (src homolog>gg>y 3) motif, found in several other proteins that associate with the cytoskeleton and are suspected to play important roles in sig>gg>nal transduction. [provided by RefSeq, Jul 2008]

MPP1 Gene

membrane protein, palmitoylated 1, 55kDa

This g>gg>ene encodes the prototype of the membrane-associated g>gg>uanylate kinase (MAg>Gg>UK) family proteins. MAg>Gg>UKs interact with the cytoskeleton and reg>gg>ulate cell proliferation, sig>gg>naling>gg> pathways, and intercellular junctions. The encoded protein is an extensively palmitoylated membrane phosphoprotein containing>gg> a PDZ domain, a Src homolog>gg>y 3 (SH3) motif, and a g>gg>uanylate kinase domain. This g>gg>ene product interacts with various cytoskeletal proteins and cell junctional proteins in different tissue and cell types, and may be involved in the reg>gg>ulation of cell shape, hair cell development, neural patterning>gg> of the retina, and apico-basal polarity and tumor suppression pathways in non-erythroid cells. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Oct 2009]

MPP7 Gene

membrane protein, palmitoylated 7 (MAg>Gg>UK p55 subfamily member 7)

The protein encoded by this g>gg>ene is a member of the p55 Stardust family of membrane-associated g>gg>uanylate kinase (MAg>Gg>UK) proteins, which function in the establishment of epithelial cell polarity. This family member forms a complex with the polarity protein DLg>Gg>1 (discs, larg>gg>e homolog>gg> 1) and facilitates epithelial cell polarity and tig>gg>ht junction formation. Polymorphisms in this g>gg>ene are associated with variations in site-specific bone mineral density (BMD). Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Dec 2015]

MPP6 Gene

membrane protein, palmitoylated 6 (MAg>Gg>UK p55 subfamily member 6)

Members of the peripheral membrane-associated g>gg>uanylate kinase (MAg>Gg>UK) family function in tumor suppression and g>receptorg> clustering>gg> by forming>gg> multiprotein complexes containing>gg> distinct sets of transmembrane, cytoskeletal, and cytoplasmic sig>gg>naling>gg> proteins. All MAg>Gg>UKs contain a PDZ-SH3-g>Gg>UK core and are divided into 4 subfamilies, DLg>Gg>-like (see DLg>Gg>1; MIM 601014), ZO1-like (see TJP1; MIM 601009), p55-like (see MPP1; MIM 305360), and LIN2-like (see CASK; MIM 300172), based on their size and the presence of additional domains. MPP6 is a member of the p55-like MAg>Gg>UK subfamily (Tseng>gg> et al., 2001 [PubMed 11311936]).[supplied by OMIM, Mar 2008]

MPP5 Gene

membrane protein, palmitoylated 5 (MAg>Gg>UK p55 subfamily member 5)

This g>gg>ene encodes a member of the p55-like subfamily of the membrane-associated g>gg>uanylate kinase (MAg>Gg>UK) g>gg>ene superfamily. The encoded protein participates in the polarization of differentiating>gg> cells, has been shown to reg>gg>ulate myelinating>gg> Schwann cells (PMID: 20237282), and is one of the components of the Crumbs complex in the retina. Mice which express lower levels of the ortholog>gg>ous protein have retinal deg>gg>eneration and impaired vision (PMID: 22114289). Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Feb 2012]

MPP4 Gene

membrane protein, palmitoylated 4 (MAg>Gg>UK p55 subfamily member 4)

This g>gg>ene encodes a member of the membrane-associated g>gg>uanylate kinase (MAg>Gg>UK) protein family, with an N-terminal PDZ domain, a central src homolog>gg>y 3 reg>gg>ion (SH3), and a C-terminal g>gg>uanylate kinase-like (g>Gg>UK) domain. The protein is localized to the outer limiting>gg> membrane in the retina, and is thoug>gg>ht to function in photog>receptorg> polarity and the org>gg>anization of specialized intercellular junctions. Alternatively spliced transcript variants have been described, but their biolog>gg>ical validity has not been determined. [provided by RefSeq, Jul 2008]

KRTAP19-11P Gene

keratin associated protein 19-11, pseudog>gg>ene

LOC100506422 Gene

putative deoxyuridine 5'-triphosphate nucleotidohydrolase-like protein FLJ16323

Predicted to enable dUTP diphosphatase activity and mag>gg>nesium ion binding>gg> activity. Predicted to be involved in dUMP biosynthetic process and dUTP catabolic process. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>ORASP2 Gene

g>gg>olg>gg>i reassembly stacking>gg> protein 2, 55kDa

This g>gg>ene encodes a member of the g>Gg>olg>gg>i reassembly stacking>gg> protein family. These proteins may play a role in the stacking>gg> of g>Gg>olg>gg>i cisternae and g>Gg>olg>gg>i ribbon formation, as well as g>Gg>olg>gg>i frag>gg>mentation during>gg> apoptosis or mitosis. The encoded protein also plays a role in the intracellular transport of transforming>gg> g>gg>rowth factor alpha and may function as a molecular chaperone. A pseudog>gg>ene of this g>gg>ene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Jan 2011]

g>Gg>ORASP1 Gene

g>gg>olg>gg>i reassembly stacking>gg> protein 1, 65kDa

The g>Gg>olg>gg>i complex plays a key role in the sorting>gg> and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this g>gg>ene is a membrane protein involved in establishing>gg> the stacked structure of the g>Gg>olg>gg>i apparatus. It is a caspase-3 substrate, and cleavag>gg>e of this encoded protein contributes to g>Gg>olg>gg>i frag>gg>mentation in apoptosis. This encoded protein can form a complex with the g>Gg>olg>gg>i matrix protein g>Gg>OLg>Gg>A2, and this complex binds to the vesicle docking>gg> protein p115. Alternative splicing>gg> results in multiple transcript variants of this g>gg>ene. [provided by RefSeq, Jul 2013]

g>Gg>JB7 Gene

g>gg>ap junction protein, beta 7, 25kDa

Connexins, such as g>Gg>JB7, are involved in the formation of g>gg>ap junctions, intercellular conduits that directly connect the cytoplasms of contacting>gg> cells. Each g>gg>ap junction channel is formed by docking>gg> of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008]

LOC100420584 Gene

microtubule-associated protein 6 pseudog>gg>ene

LOC100420586 Gene

Rho g>Gg>TPase activating>gg> protein 33 pseudog>gg>ene

LOC100420587 Gene

SHC SH2-domain binding>gg> protein 1 pseudog>gg>ene

CORO2B Gene

coronin, actin binding>gg> protein, 2B

Enables talin binding>gg> activity and vinculin binding>gg> activity. Acts upstream of or within several processes, including>gg> neg>gg>ative reg>gg>ulation of cell-substrate adhesion; reg>gg>ulation of actin cytoskeleton org>gg>anization; and reg>gg>ulation of establishment of protein localization. Located in focal adhesion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CORO2A Gene

coronin, actin binding>gg> protein, 2A

This g>gg>ene encodes a member of the WD repeat protein family. WD repeats are minimally conserved reg>gg>ions of approximately 40 amino acids typically bracketed by g>gg>ly-his and trp-asp (g>Gg>H-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including>gg> cell cycle prog>gg>ression, sig>gg>nal transduction, apoptosis, and g>gg>ene reg>gg>ulation. This protein contains 5 WD repeats, and has a structural similarity with actin-binding>gg> proteins: the D. discoideum coronin and the human p57 protein, sug>gg>g>gg>esting>gg> that this protein may also be an actin-binding>gg> protein that reg>gg>ulates cell motility. Alternative splicing>gg> of this g>gg>ene g>gg>enerates 2 transcript variants. [provided by RefSeq, Jul 2008]

LINC01588 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1588

PHF5A Gene

PHD fing>gg>er protein 5A

This g>gg>ene encodes a subunit of the splicing>gg> factor 3b protein complex. Splicing>gg> factor 3b, tog>gg>ether with splicing>gg> factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing>gg> factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence-independent manner and may anchor the U2 snRNP to the pre-mRNA. The protein encoded by this g>gg>ene contains a PHD-fing>gg>er-like domain that is flanked by hig>gg>hly basic N- and C-termini. This protein belong>gg>s to the PHD-fing>gg>er superfamily and may act as a chromatin-associated protein. This g>gg>ene has several pseudog>gg>enes on different chromosomes. [provided by RefSeq, Jul 2008]

LINC01585 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1585

LINC01583 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1583

LINC01582 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1582

LINC01581 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1581

LINC01580 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1580

LINC01055 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1055

LINC01057 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1057

LINC01056 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1056

LINC01050 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1050

LINC01053 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1053

LINC01059 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1059

LOC642502 Gene

succinate dehydrog>gg>enase complex, subunit C, integ>gg>ral membrane protein, 15kDa pseudog>gg>ene

LOC100418537 Gene

ribosomal protein L13 pseudog>gg>ene

CAPZA1P Gene

capping>gg> protein (actin filament) muscle Z-line, alpha 1 pseudog>gg>ene

LOC100420052 Gene

poly(rC) binding>gg> protein 2 pseudog>gg>ene

LOC100420053 Gene

transmembrane protein 126A pseudog>gg>ene

WASH5P Gene

WAS protein family homolog>gg> 5 pseudog>gg>ene

MAP2K3 Gene

mitog>gg>en-activated protein kinase kinase 3

The protein encoded by this g>gg>ene is a dual specificity protein kinase that belong>gg>s to the MAP kinase kinase family. This kinase is activated by mitog>gg>enic and environmental stress, and participates in the MAP kinase-mediated sig>gg>naling>gg> cascade. It phosphorylates and thus activates MAPK14/p38-MAPK. This kinase can be activated by insulin, and is necessary for the expression of g>gg>lucose transporter. Expression of RAS oncog>gg>ene is found to result in the accumulation of the active form of this kinase, which thus leads to the constitutive activation of MAPK14, and confers oncog>gg>enic transformation of primary cells. The inhibition of this kinase is involved in the pathog>gg>enesis of Yersina pseudotuberculosis. Multiple alternatively spliced transcript variants that encode distinct isoforms have been reported for this g>gg>ene. [provided by RefSeq, Jul 2008]

MAP2K2 Gene

mitog>gg>en-activated protein kinase kinase 2

The protein encoded by this g>gg>ene is a dual specificity protein kinase that belong>gg>s to the MAP kinase kinase family. This kinase is known to play a critical role in mitog>gg>en g>gg>rowth factor sig>gg>nal transduction. It phosphorylates and thus activates MAPK1/ERK2 and MAPK2/ERK3. The activation of this kinase itself is dependent on the Ser/Thr phosphorylation by MAP kinase kinase kinases. Mutations in this g>gg>ene cause cardiofaciocutaneous syndrome (CFC syndrome), a disease characterized by heart defects, cog>gg>nitive disability, and distinctive facial features similar to those found in Noonan syndrome. The inhibition or deg>gg>radation of this kinase is also found to be involved in the pathog>gg>enesis of Yersinia and anthrax. A pseudog>gg>ene, which is located on chromosome 7, has been identified for this g>gg>ene. [provided by RefSeq, Jul 2008]

MAP2K1 Gene

mitog>gg>en-activated protein kinase kinase 1

The protein encoded by this g>gg>ene is a member of the dual specificity protein kinase family, which acts as a mitog>gg>en-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular sig>gg>nal-reg>gg>ulated kinases (ERKs), act as an integ>gg>ration point for multiple biochemical sig>gg>nals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular sig>gg>nals. As an essential component of MAP kinase sig>gg>nal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription reg>gg>ulation and development. [provided by RefSeq, Jul 2008]

MAP2K7 Gene

mitog>gg>en-activated protein kinase kinase 7

The protein encoded by this g>gg>ene is a dual specificity protein kinase that belong>gg>s to the MAP kinase kinase family. This kinase specifically activates MAPK8/JNK1 and MAPK9/JNK2, and this kinase itself is phosphorylated and activated by MAP kinase kinase kinases including>gg> MAP3K1/MEKK1, MAP3K2/MEKK2,MAP3K3/MEKK5, and MAP4K2/g>Gg>CK. This kinase is involved in the sig>gg>nal transduction mediating>gg> the cell responses to proinflammatory cytokines, and environmental stresses. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2014]

MAP2K6 Gene

mitog>gg>en-activated protein kinase kinase 6

This g>gg>ene encodes a member of the dual specificity protein kinase family, which functions as a mitog>gg>en-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular sig>gg>nal-reg>gg>ulated kinases (ERKs), act as an integ>gg>ration point for multiple biochemical sig>gg>nals. This protein phosphorylates and activates p38 MAP kinase in response to inflammatory cytokines or environmental stress. As an essential component of p38 MAP kinase mediated sig>gg>nal transduction pathway, this g>gg>ene is involved in many cellular processes such as stress induced cell cycle arrest, transcription activation and apoptosis. [provided by RefSeq, Jul 2008]

MAP2K5 Gene

mitog>gg>en-activated protein kinase kinase 5

The protein encoded by this g>gg>ene is a dual specificity protein kinase that belong>gg>s to the MAP kinase kinase family. This kinase specifically interacts with and activates MAPK7/ERK5. This kinase itself can be phosphorylated and activated by MAP3K3/MEKK3, as well as by atypical protein kinase C isoforms (aPKCs). The sig>gg>nal cascade mediated by this kinase is involved in g>gg>rowth factor stimulated cell proliferation and muscle cell differentiation. Three alternatively spliced transcript variants of this g>gg>ene encoding>gg> distinct isoforms have been described. [provided by RefSeq, May 2011]

MAP2K4 Gene

mitog>gg>en-activated protein kinase kinase 4

This g>gg>ene encodes a member of the mitog>gg>en-activated protein kinase (MAPK) family. Members of this family act as an integ>gg>ration point for multiple biochemical sig>gg>nals and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription reg>gg>ulation, and development. They form a three-tiered sig>gg>naling>gg> module composed of MAPKKKs, MAPKKs, and MAPKs. This protein is phosphorylated at serine and threonine residues by MAPKKKs and subsequently phosphorylates downstream MAPK targ>gg>ets at threonine and tyrosine residues. A similar protein in mouse has been reported to play a role in liver org>gg>anog>gg>enesis. A pseudog>gg>ene of this g>gg>ene is located on the long>gg> arm of chromosome X. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2013]

TSPY14P Gene

testis specific protein, Y-linked 14, pseudog>gg>ene

PDE4DIPP1 Gene

phosphodiesterase 4D interacting>gg> protein pseudog>gg>ene 1

MRPL15P1 Gene

mitochondrial ribosomal protein L15 pseudog>gg>ene 1

RPL32P18 Gene

ribosomal protein L32 pseudog>gg>ene 18

RPL32P19 Gene

ribosomal protein L32 pseudog>gg>ene 19

MRPL2P1 Gene

mitochondrial ribosomal protein L2 pseudog>gg>ene 1

CACYBP Gene

calcyclin binding>gg> protein

The protein encoded by this g>gg>ene is a calcyclin binding>gg> protein. It may be involved in calcium-dependent ubiquitination and subsequent proteosomal deg>gg>radation of targ>gg>et proteins. It probably serves as a molecular bridg>gg>e in ubiquitin E3 complexes and participates in the ubiquitin-mediated deg>gg>radation of beta-catenin. Two alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

RPS15P8 Gene

ribosomal protein S15 pseudog>gg>ene 8

RPS15P9 Gene

ribosomal protein S15 pseudog>gg>ene 9

RPS15P4 Gene

ribosomal protein S15 pseudog>gg>ene 4

RPS15P5 Gene

ribosomal protein S15 pseudog>gg>ene 5

RPS15P6 Gene

ribosomal protein S15 pseudog>gg>ene 6

RPS15P7 Gene

ribosomal protein S15 pseudog>gg>ene 7

RPS15P1 Gene

ribosomal protein S15 pseudog>gg>ene 1

RPS15P2 Gene

ribosomal protein S15 pseudog>gg>ene 2

RPS15P3 Gene

ribosomal protein S15 pseudog>gg>ene 3

LUZP4 Gene

leucine zipper protein 4

This g>gg>ene encodes a leucine-zipper protein that was first defined as a cancer testis antig>gg>ens. The encoded protein is an RNA binding>gg> protein that interacts with the mRNA export g>receptorg> nuclear RNA export factor 2. Alternate splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jan 2016]

LUZP6 Gene

leucine zipper protein 6

A bi-cistronic transcript encodes the products of both the myotrophin and leucine zipper protein 6 g>gg>enes, which are located on chromosome 7. A cryptic ORF at the 3' end of the myotrophin transcript uses a novel internal ribosome entry site and a non-AUg>Gg> translation initiation codon to produce leucine zipper protein 6, a 6.4 kDa tumor antig>gg>en that is associated with myeloproliferative disease. [provided by RefSeq, Jul 2008]

LUZP1 Gene

leucine zipper protein 1

This g>gg>ene encodes a protein that contains a leucine zipper motif. The exact function of the encoded protein is not known. In mice this g>gg>ene affects neural tube closure. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Dec 2008]

LUZP2 Gene

leucine zipper protein 2

This g>gg>ene encodes a leucine zipper protein. This protein is deleted in some patients with Wilms tumor-Aniridia-g>Gg>enitourinary anomalies-mental Retardation (WAg>Gg>R) syndrome. Alternate splicing>gg> results in multiple transcript variants. [provided by RefSeq, Oct 2011]

LOC101929373 Gene

putative protein NHEDC1-like 2

ZNF879 Gene

zinc fing>gg>er protein 879

This g>gg>ene encodes a kruppel-associated box-containing>gg> zinc fing>gg>er protein (KRAB-ZFP). The encoded protein contains an N-terminal kruppel-associated box (KRAB) domain and thirteen C-terminal C2H2-type zinc fing>gg>er domains. The KRAB-ZFPs represent the larg>gg>est family of mammalian transcriptional repressors, which function throug>gg>h the recruitment of the nuclear co-factor KRAB-Associated Protein 1 (KAP1), to eng>gg>ag>gg>e histone modifiers and induce heterochromatin formation. [provided by RefSeq, Jul 2017]

ZNF878 Gene

zinc fing>gg>er protein 878

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RBMY1A3P Gene

RNA binding>gg> motif protein, Y-linked, family 1, member A3 pseudog>gg>ene

PHF10P1 Gene

PHD fing>gg>er protein 10 pseudog>gg>ene 1

LOC105376752 Gene

NPIP-like protein 1

g>Gg>OLIM4 Gene

g>gg>olg>gg>i integ>gg>ral membrane protein 4

The g>Gg>olg>gg>i complex plays a key role in the sorting>gg> and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this g>gg>ene is a type II g>Gg>olg>gg>i-resident protein. It may process proteins synthesized in the roug>gg>h endoplasmic reticulum and assist in the transport of protein carg>gg>o throug>gg>h the g>Gg>olg>gg>i apparatus. [provided by RefSeq, Jul 2008]

LOC100131013 Gene

ribosomal protein L7-like 1 pseudog>gg>ene

g>Gg>AP43 Gene

g>gg>rowth associated protein 43

The protein encoded by this g>gg>ene has been termed a 'g>gg>rowth' or 'plasticity' protein because it is expressed at hig>gg>h levels in neuronal g>gg>rowth cones during>gg> development and axonal reg>gg>eneration. This protein is considered a crucial component of an effective reg>gg>enerative response in the nervous system. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

FBXL13 Gene

F-box and leucine-rich repeat protein 13

Members of the F-box protein family, such as FBXL13, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin lig>gg>ases. F-box proteins interact with SKP1 throug>gg>h the F box, and they interact with ubiquitination targ>gg>ets throug>gg>h other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXL12 Gene

F-box and leucine-rich repeat protein 12

Members of the F-box protein family, such as FBXL12, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin lig>gg>ases. F-box proteins interact with SKP1 throug>gg>h the F box, and they interact with ubiquitination targ>gg>ets throug>gg>h other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXL15 Gene

F-box and leucine-rich repeat protein 15

Involved in several processes, including>gg> g>Gg>2/M transition of mitotic cell cycle; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process; and positive reg>gg>ulation of BMP sig>gg>naling>gg> pathway. Located in cytoplasm. Part of SCF ubiquitin lig>gg>ase complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FBXL17 Gene

F-box and leucine-rich repeat protein 17

Members of the F-box protein family, such as FBXL17, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin lig>gg>ases. F-box proteins interact with SKP1 throug>gg>h the F box, and they interact with ubiquitination targ>gg>ets throug>gg>h other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXL16 Gene

F-box and leucine-rich repeat protein 16

Members of the F-box protein family, such as FBXL16, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin lig>gg>ases. F-box proteins interact with SKP1 throug>gg>h the F box, and they interact with ubiquitination targ>gg>ets throug>gg>h other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXL18 Gene

F-box and leucine-rich repeat protein 18

The protein encoded by this g>gg>ene is a member of a family of proteins that contain an approximately 40-amino acid F-box motif. This motif is important for interaction with SKP1 and for targ>gg>eting>gg> some proteins for deg>gg>radation. The encoded protein has been shown to control the cellular level of FBXL7, a protein that induces mitotic arrest, by targ>gg>eting>gg> it for polyubiquitylation and proteasomal deg>gg>radation. Members of the F-box protein family, such as FBXL18, are characterized by an approximately 40-amino acid F-box motif. F-box proteins interact with SKP1 throug>gg>h the F box, and they interact with ubiquitination targ>gg>ets throug>gg>h other protein interaction domains. [provided by RefSeq, Mar 2016]

PPP1R1AP1 Gene

protein phosphatase 1, reg>gg>ulatory (inhibitor) subunit 1A pseudog>gg>ene 1

RNF114 Gene

ring>gg> fing>gg>er protein 114

Predicted to enable ubiquitin protein lig>gg>ase activity. Predicted to be involved in protein polyubiquitination and ubiquitin-dependent protein catabolic process. Located in cytosol and plasma membrane. Biomarker of male infertility. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MRPL50P2 Gene

mitochondrial ribosomal protein L50 pseudog>gg>ene 2

MRPL50P3 Gene

mitochondrial ribosomal protein L50 pseudog>gg>ene 3

MRPL50P1 Gene

mitochondrial ribosomal protein L50 pseudog>gg>ene 1

MRPL50P4 Gene

mitochondrial ribosomal protein L50 pseudog>gg>ene 4

LINC01217 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1217

LINC01216 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1216

LINC01210 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1210

LINC01219 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1219

LINC01218 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1218

TP53Tg>Gg>1 Gene

TP53 targ>gg>et 1 (non-protein coding>gg>)

RPL17P36 Gene

ribosomal protein L17 pseudog>gg>ene 36

RPL17P35 Gene

ribosomal protein L17 pseudog>gg>ene 35

RPL17P34 Gene

ribosomal protein L17 pseudog>gg>ene 34

RPL17P33 Gene

ribosomal protein L17 pseudog>gg>ene 33

RPL17P32 Gene

ribosomal protein L17 pseudog>gg>ene 32

RPL17P31 Gene

ribosomal protein L17 pseudog>gg>ene 31

RPL17P30 Gene

ribosomal protein L17 pseudog>gg>ene 30

RPL17P39 Gene

ribosomal protein L17 pseudog>gg>ene 39

Althoug>gg>h this locus has an open reading>gg> frame that could produce a protein of the same or nearly the same size as that of the RPL17 g>gg>ene, no convincing>gg> evidence of transcription exists. It is thus being>gg> annotated as a pseudog>gg>ene. [provided by RefSeq, Feb 2009]

RPL17P38 Gene

ribosomal protein L17 pseudog>gg>ene 38

RPL3P12 Gene

ribosomal protein L3 pseudog>gg>ene 12

RPL3P11 Gene

ribosomal protein L3 pseudog>gg>ene 11

RPL3P10 Gene

ribosomal protein L3 pseudog>gg>ene 10

LOC100420981 Gene

nucleosome assembly protein 1-like 1 pseudog>gg>ene

CDY19P Gene

chromodomain protein, Y-linked 19 pseudog>gg>ene

CREB1 Gene

cAMP responsive element binding>gg> protein 1

This g>gg>ene encodes a transcription factor that is a member of the leucine zipper family of DNA binding>gg> proteins. This protein binds as a homodimer to the cAMP-responsive element, an octameric palindrome. The protein is phosphorylated by several protein kinases, and induces transcription of g>gg>enes in response to hormonal stimulation of the cAMP pathway. Alternate splicing>gg> of this g>gg>ene results in several transcript variants encoding>gg> different isoforms. [provided by RefSeq, Mar 2016]

ZFP82 Gene

ZFP82 zinc fing>gg>er protein

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105374086 Gene

skin secretory protein xP2-like

MRPL32P1 Gene

mitochondrial ribosomal protein L32 pseudog>gg>ene 1

NOP9 Gene

NOP9 nucleolar protein

Enables RNA binding>gg> activity. Predicted to be involved in ribosome biog>gg>enesis. Predicted to be part of 90S preribosome and preribosome, small subunit precursor. Predicted to be active in nucleolus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

APIP Gene

APAF1 interacting>gg> protein

Enables identical protein binding>gg> activity; methylthioribulose 1-phosphate dehydratase activity; and zinc ion binding>gg> activity. Involved in several processes, including>gg> L-methionine salvag>gg>e from methylthioadenosine; protein homotetramerization; and pyroptotic inflammatory response. Located in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC102723713 Gene

TP53-targ>gg>et g>gg>ene 3 protein

LOC100420532 Gene

ribosomal protein S4, Y-linked 2 pseudog>gg>ene

RPS4XP14 Gene

ribosomal protein S4X pseudog>gg>ene 14

RPS4XP15 Gene

ribosomal protein S4X pseudog>gg>ene 15

RPS4XP16 Gene

ribosomal protein S4X pseudog>gg>ene 16

RPS4XP17 Gene

ribosomal protein S4X pseudog>gg>ene 17

RPS4XP10 Gene

ribosomal protein S4X pseudog>gg>ene 10

RPS4XP11 Gene

ribosomal protein S4X pseudog>gg>ene 11

RPS4XP12 Gene

ribosomal protein S4X pseudog>gg>ene 12

RPS4XP13 Gene

ribosomal protein S4X pseudog>gg>ene 13

ITg>Gg>B1BP1 Gene

integ>gg>rin beta 1 binding>gg> protein 1

The cytoplasmic domains of integ>gg>rins are essential for cell adhesion. The protein encoded by this g>gg>ene binds to the beta1 integ>gg>rin cytoplasmic domain. The interaction between this protein and beta1 integ>gg>rin is hig>gg>hly specific. Two isoforms of this protein are derived from alternatively spliced transcripts. The shorter form of this protein does not interact with the beta1 integ>gg>rin cytoplasmic domain. The long>gg>er form is a phosphoprotein and the extent of its phosphorylation is reg>gg>ulated by the cell-matrix interaction, sug>gg>g>gg>esting>gg> an important role of this protein during>gg> integ>gg>rin-dependent cell adhesion. Several transcript variants, some protein-coding>gg> and some non-protein coding>gg>, have been found for this g>gg>ene. [provided by RefSeq, Jan 2016]

RPS4XP19 Gene

ribosomal protein S4X pseudog>gg>ene 19

ITg>Gg>B1BP2 Gene

integ>gg>rin beta 1 binding>gg> protein (melusin) 2

This g>gg>ene encodes a protein with two cysteine and histidine-rich (CHORD) domains, PXXP motifs, YXXI/P motifs, putative SH2 and SH3 domain binding>gg> motifs, and an acidic reg>gg>ion at the C-terminus that can bind calcium. Two hybrid analysis showed that this protein interacts with the cytoplasmic domain of the beta 1 integ>gg>rin subunit and is thoug>gg>ht to act as a chaperone protein. Studies in the mouse ortholog>gg> of this g>gg>ene indicate that absence of this g>gg>ene in mouse results in failed cardiac hypertrophy in response to mechanical stress. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms, including>gg> an isoform that lacks several domains, including>gg> one of the CHORD domains. [provided by RefSeq, May 2017]

LINC01213 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1213

ZAP70 Gene

zeta-chain (TCR) associated protein kinase 70kDa

This g>gg>ene encodes an enzyme belong>gg>ing>gg> to the protein tyrosine kinase family, and it plays a role in T-cell development and lymphocyte activation. This enzyme, which is phosphorylated on tyrosine residues upon T-cell antig>gg>en g>receptorg> (TCR) stimulation, functions in the initial step of TCR-mediated sig>gg>nal transduction in combination with the Src family kinases, Lck and Fyn. This enzyme is also essential for thymocyte development. Mutations in this g>gg>ene cause selective T-cell defect, a severe combined immunodeficiency disease characterized by a selective absence of CD8-positive T-cells. Two transcript variants that encode different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

VCP Gene

valosin containing>gg> protein

This g>gg>ene encodes a member of the AAA ATPase family of proteins. The encoded protein plays a role in protein deg>gg>radation, intracellular membrane fusion, DNA repair and replication, reg>gg>ulation of the cell cycle, and activation of the NF-kappa B pathway. This protein forms a homohexameric complex that interacts with a variety of cofactors and extracts ubiquitinated proteins from lipid membranes or protein complexes. Mutations in this g>gg>ene cause IBMPFD (inclusion body myopathy with pag>gg>et disease of bone and frontotemporal dementia), ALS (amyotrophic lateral sclerosis) and Charcot-Marie-Tooth disease in human patients. [provided by RefSeq, Aug>gg> 2017]

RPL7P11 Gene

ribosomal protein L7 pseudog>gg>ene 11

AIRN Gene

antisense of Ig>Gg>F2R non-protein coding>gg> RNA

Both spliced and un-spliced long>gg> non-coding>gg> RNAs are transcribed from this g>gg>ene. This g>gg>ene overlaps on the opposite strand the second intron of the insulin-like g>gg>rowth factor 2 g>receptorg> g>gg>ene; a Cpg>Gg> island associated with the second intron denotes an active promoter that drives the expression of this g>gg>ene. The related mouse g>gg>ene is responsible for silencing>gg> the insulin-like g>gg>rowth factor 2 g>receptorg> g>gg>ene and flanking>gg> g>gg>enes in the imprinted g>gg>ene cluster of mice. This g>gg>ene may be expressed in Wilms tumors. [provided by RefSeq, Feb 2013]

MRPL24 Gene

mitochondrial ribosomal protein L24

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein which is more than twice the size of its E.coli counterpart (EcoL24). Sequence analysis identified two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]

MRPL27 Gene

mitochondrial ribosomal protein L27

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]

MRPL21 Gene

mitochondrial ribosomal protein L21

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein. Multiple transcript variants encoding>gg> different isoforms were identified throug>gg>h sequence analysis althoug>gg>h some may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Jul 2008]

MRPL20 Gene

mitochondrial ribosomal protein L20

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein. A pseudog>gg>ene corresponding>gg> to this g>gg>ene is found on chromosome 21q. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Jan 2016]

MRPL23 Gene

mitochondrial ribosomal protein L23

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein. The g>gg>ene is biallelically expressed, despite its location within a reg>gg>ion of imprinted g>gg>enes on chromosome 11. [provided by RefSeq, Jul 2008]

MRPL22 Gene

mitochondrial ribosomal protein L22

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein that belong>gg>s to the L22 ribosomal protein family. A pseudog>gg>ene corresponding>gg> to this g>gg>ene is found on chromosome 4q. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

MRPL28 Gene

mitochondrial ribosomal protein L28

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein, a part of which was orig>gg>inally isolated by its ability to recog>gg>nize tyrosinase in an HLA-A24-restricted fashion. [provided by RefSeq, Jul 2008]

CNTNAP3P5 Gene

contactin associated protein-like 3 pseudog>gg>ene 5

CHD1L Gene

chromodomain helicase DNA binding>gg> protein 1-like

This g>gg>ene encodes a DNA helicase protein involved in DNA repair. The protein converts ATP to add poly(ADP-ribose) as it reg>gg>ulates chromatin relaxation following>gg> DNA damag>gg>e. Overexpression of this g>gg>ene has been linked to several types of cancers. [provided by RefSeq, Feb 2017]

CSRP2P Gene

cysteine and g>gg>lycine-rich protein 2 pseudog>gg>ene

RNF130 Gene

ring>gg> fing>gg>er protein 130

The protein encoded by this g>gg>ene contains a RINg>Gg> fing>gg>er motif and is similar to g>gg>1, a Drosophila zinc-fing>gg>er protein that is expressed in mesoderm and involved in embryonic development. The expression of the mouse counterpart was found to be upreg>gg>ulated in myeloblastic cells following>gg> IL3 deprivation, sug>gg>g>gg>esting>gg> that this g>gg>ene may reg>gg>ulate g>gg>rowth factor withdrawal-induced apoptosis of myeloid precursor cells. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2013]

RNF133 Gene

ring>gg> fing>gg>er protein 133

The protein encoded by this g>gg>ene contains a RINg>Gg> fing>gg>er domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This g>gg>ene has no intron. [provided by RefSeq, Jul 2008]

RNF135 Gene

ring>gg> fing>gg>er protein 135

The protein encoded by this g>gg>ene contains a RINg>Gg> fing>gg>er domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This g>gg>ene is located in a chromosomal reg>gg>ion known to be frequently deleted in patients with neurofibromatosis. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

RNF139 Gene

ring>gg> fing>gg>er protein 139

The protein encoded by this g>gg>ene is a multi-membrane spanning>gg> protein containing>gg> a RINg>Gg>-H2 fing>gg>er. This protein is located in the endoplasmic reticulum, and has been shown to possess ubiquitin lig>gg>ase activity. This g>gg>ene was found to be interrupted by a t(3:8) translocation in a family with hereditary renal and non-medulary thyroid cancer. Studies of the Drosophila counterpart sug>gg>g>gg>ested that this protein may interact with tumor suppressor protein VHL, as well as with COPS5/JAB1, a protein responsible for the deg>gg>radation of tumor suppressor CDKN1B/P27KIP. [provided by RefSeq, Jul 2008]

CHML Gene

choroideremia-like (Rab escort protein 2)

The product of the CHML g>gg>ene supports g>gg>eranylg>gg>eranylation of most Rab proteins and may substitute for REP-1 in tissues other than retina. CHML is localized close to the g>gg>ene for Usher syndrome type II. [provided by RefSeq, Jul 2008]

LOC100996709 Gene

ADP-ribosylation factor-like protein 17

RBMY2NP Gene

RNA binding>gg> motif protein, Y-linked, family 2, member N pseudog>gg>ene

FLJ40712 Gene

FLJ40712 protein

LOC105379689 Gene

F-box only protein 25-like

RPS29P25 Gene

ribosomal protein S29 pseudog>gg>ene 25

RPS29P26 Gene

ribosomal protein S29 pseudog>gg>ene 26

CEP57 Gene

centrosomal protein 57kDa

This g>gg>ene encodes a cytoplasmic protein called Translokin. This protein localizes to the centrosome and has a function in microtubular stabilization. The N-terminal half of this protein is required for its centrosome localization and for its multimerization, and the C-terminal half is required for nucleating>gg>, bundling>gg> and anchoring>gg> microtubules to the centrosomes. This protein specifically interacts with fibroblast g>gg>rowth factor 2 (Fg>Gg>F2), sorting>gg> nexin 6, Ran-binding>gg> protein M and the kinesins KIF3A and KIF3B, and thus mediates the nuclear translocation and mitog>gg>enic activity of the Fg>Gg>F2. It also interacts with cyclin D1 and controls nucleocytoplasmic distribution of the cyclin D1 in quiescent cells. This protein is crucial for maintaining>gg> correct chromosomal number during>gg> cell division. Mutations in this g>gg>ene cause mosaic varieg>gg>ated aneuploidy syndrome, a rare autosomal recessive disorder. Multiple alternatively spliced transcript variants encoding>gg> different isoforms have been identified. [provided by RefSeq, Aug>gg> 2011]

CEP55 Gene

centrosomal protein 55kDa

Enables identical protein binding>gg> activity. Involved in cranial skeletal system development; establishment of protein localization; and midbody abscission. Acts upstream of or within mitotic cytokinesis. Located in Flemming>gg> body and centrosome. Implicated in multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPSAP11 Gene

ribosomal protein SA pseudog>gg>ene 11

RNF7P1 Gene

ring>gg> fing>gg>er protein 7 pseudog>gg>ene 1

RPL37AP5 Gene

ribosomal protein L37a pseudog>gg>ene 5

RPL37AP4 Gene

ribosomal protein L37a pseudog>gg>ene 4

RPL37AP7 Gene

ribosomal protein L37a pseudog>gg>ene 7

RPL37AP1 Gene

ribosomal protein L37a pseudog>gg>ene 1

RPL37AP3 Gene

ribosomal protein L37a pseudog>gg>ene 3

RPL37AP2 Gene

ribosomal protein L37a pseudog>gg>ene 2

RPL37AP9 Gene

ribosomal protein L37a pseudog>gg>ene 9

RPL37AP8 Gene

ribosomal protein L37a pseudog>gg>ene 8

Predicted to enable larg>gg>e ribosomal subunit rRNA binding>gg> activity. Predicted to be involved in translation. Predicted to be located in ribosome. Predicted to be part of cytosolic larg>gg>e ribosomal subunit. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NIFKP1 Gene

nucleolar protein interacting>gg> with the FHA domain of MKI67 pseudog>gg>ene 1

NIFKP2 Gene

nucleolar protein interacting>gg> with the FHA domain of MKI67 pseudog>gg>ene 2

NIFKP3 Gene

nucleolar protein interacting>gg> with the FHA domain of MKI67 pseudog>gg>ene 3

NIFKP4 Gene

nucleolar protein interacting>gg> with the FHA domain of MKI67 pseudog>gg>ene 4

NIFKP5 Gene

nucleolar protein interacting>gg> with the FHA domain of MKI67 pseudog>gg>ene 5

NIFKP6 Gene

nucleolar protein interacting>gg> with the FHA domain of MKI67 pseudog>gg>ene 6

NIFKP8 Gene

nucleolar protein interacting>gg> with the FHA domain of MKI67 pseudog>gg>ene 8

MID1IP1 Gene

MID1 interacting>gg> protein 1

Predicted to enable identical protein binding>gg> activity. Predicted to be involved in several processes, including>gg> neg>gg>ative reg>gg>ulation of microtubule depolymerization; positive reg>gg>ulation of fatty acid biosynthetic process; and positive reg>gg>ulation of lig>gg>ase activity. Predicted to be located in microtubule cytoskeleton. Predicted to be active in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TAX1BP1 Gene

Tax1 (human T-cell leukemia virus type I) binding>gg> protein 1

This g>gg>ene encodes a HTLV-1 tax1 binding>gg> protein. The encoded protein interacts with TNFAIP3, and inhibits TNF-induced apoptosis by mediating>gg> the TNFAIP3 anti-apoptotic activity. Deg>gg>radation of this protein by caspase-3-like family proteins is associated with apoptosis induced by TNF. This protein may also have a role in the inhibition of inflammatory sig>gg>naling>gg> pathways. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene.[provided by RefSeq, May 2011]

TAX1BP3 Gene

Tax1 (human T-cell leukemia virus type I) binding>gg> protein 3

This g>gg>ene encodes a small, hig>gg>hly conserved protein with a sing>gg>le PDZ domain. PDZ (PSD-95/Discs larg>gg>e/ZO-1 homolog>gg>ous) domains promote protein-protein interactions that affect cell sig>gg>naling>gg>, adhesion, protein scaffolding>gg>, and g>receptorg> and ion transporter functions. The encoded protein interacts with a larg>gg>e number of targ>gg>et proteins that play roles in sig>gg>naling>gg> pathways; for example, it interacts with Rho A and g>gg>lutaminase L and also acts as a neg>gg>ative reg>gg>ulator of the Wnt/beta-catenin sig>gg>naling>gg> pathway. This protein was first identified as binding>gg> to the T-cell leukaemia virus (HTLV1) Tax oncoprotein. Overexpression of this g>gg>ene has been implicated in altered cancer cell adhesion, mig>gg>ration and metastasis. The encoded protein also modulates the localization and density of inwardly rectifying>gg> potassium channel 2.3 (Kir2.3). To date, this protein has been shown to play a role in cell proliferation, development, stress response, and polarization. Alternative splicing>gg> results in multiple transcript variants encoding>gg> distinct isoforms. [provided by RefSeq, Apr 2017]

CNTNAP3P8 Gene

contactin associated protein-like 3 pseudog>gg>ene 8

LOC100288560 Gene

mitochondrial ribosomal protein S18C pseudog>gg>ene

CEP126 Gene

centrosomal protein 126kDa

Involved in cilium assembly; cytoplasmic microtubule org>gg>anization; and mitotic spindle org>gg>anization. Located in centrosome; ciliary base; and midbody. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC346296 Gene

insulin-like g>gg>rowth factor 2 mRNA binding>gg> protein 3 pseudog>gg>ene

BMP7 Gene

bone morphog>gg>enetic protein 7

This g>gg>ene encodes a secreted lig>gg>and of the Tg>Gg>F-beta (transforming>gg> g>gg>rowth factor-beta) superfamily of proteins. Lig>gg>ands of this family bind various Tg>Gg>F-beta g>receptorg>s leading>gg> to recruitment and activation of SMAD family transcription factors that reg>gg>ulate g>gg>ene expression. The encoded preproprotein is proteolytically processed to g>gg>enerate each subunit of the disulfide-linked homodimer, which plays a role in bone, kidney and brown adipose tissue development. Additionally, this protein induces ectopic bone formation and may promote fracture healing>gg> in human patients. [provided by RefSeq, Jul 2016]

BMP6 Gene

bone morphog>gg>enetic protein 6

This g>gg>ene encodes a secreted lig>gg>and of the Tg>Gg>F-beta (transforming>gg> g>gg>rowth factor-beta) superfamily of proteins. Lig>gg>ands of this family bind various Tg>Gg>F-beta g>receptorg>s leading>gg> to recruitment and activation of SMAD family transcription factors that reg>gg>ulate g>gg>ene expression. The encoded preproprotein is proteolytically processed to g>gg>enerate each subunit of the disulfide-linked homodimer. This protein reg>gg>ulates a wide rang>gg>e of biolog>gg>ical processes including>gg> iron homeostasis, fat and bone development, and ovulation. Differential expression of this g>gg>ene may be associated with prog>gg>ression of breast and prostate cancer. Mutations in this g>gg>ene may be associated with iron overload in human patients. [provided by RefSeq, Jul 2016]

BMP5 Gene

bone morphog>gg>enetic protein 5

This g>gg>ene encodes a secreted lig>gg>and of the Tg>Gg>F-beta (transforming>gg> g>gg>rowth factor-beta) superfamily of proteins. Lig>gg>ands of this family bind various Tg>Gg>F-beta g>receptorg>s leading>gg> to recruitment and activation of SMAD family transcription factors that reg>gg>ulate g>gg>ene expression. The encoded preproprotein is proteolytically processed to g>gg>enerate each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilag>gg>e development. Polymorphisms in this g>gg>ene may be associated with osteoarthritis in human patients. This g>gg>ene is differentially reg>gg>ulated in multiple human cancers. This g>gg>ene encodes distinct protein isoforms that may be similarly proteolytically processed. [provided by RefSeq, Jul 2016]

BMP4 Gene

bone morphog>gg>enetic protein 4

This g>gg>ene encodes a secreted lig>gg>and of the Tg>Gg>F-beta (transforming>gg> g>gg>rowth factor-beta) superfamily of proteins. Lig>gg>ands of this family bind various Tg>Gg>F-beta g>receptorg>s leading>gg> to recruitment and activation of SMAD family transcription factors that reg>gg>ulate g>gg>ene expression. The encoded preproprotein is proteolytically processed to g>gg>enerate each subunit of the disulfide-linked homodimer. This protein reg>gg>ulates heart development and adipog>gg>enesis. Mutations in this g>gg>ene are associated with orofacial cleft and microphthalmia in human patients. The encoded protein may also be involved in the patholog>gg>y of multiple cardiovascular diseases and human cancers. [provided by RefSeq, Jul 2016]

BMP3 Gene

bone morphog>gg>enetic protein 3

This g>gg>ene encodes a secreted lig>gg>and of the Tg>Gg>F-beta (transforming>gg> g>gg>rowth factor-beta) superfamily of proteins. Lig>gg>ands of this family bind various Tg>Gg>F-beta g>receptorg>s leading>gg> to recruitment and activation of SMAD family transcription factors that reg>gg>ulate g>gg>ene expression. The encoded preproprotein is proteolytically processed to g>gg>enerate each subunit of the disulfide-linked homodimer. This protein suppresses osteoblast differentiation, and neg>gg>atively reg>gg>ulates bone density, by modulating>gg> Tg>Gg>F-beta g>receptorg> availability to other lig>gg>ands. [provided by RefSeq, Jul 2016]

BMP2 Gene

bone morphog>gg>enetic protein 2

This g>gg>ene encodes a secreted lig>gg>and of the Tg>Gg>F-beta (transforming>gg> g>gg>rowth factor-beta) superfamily of proteins. Lig>gg>ands of this family bind various Tg>Gg>F-beta g>receptorg>s leading>gg> to recruitment and activation of SMAD family transcription factors that reg>gg>ulate g>gg>ene expression. The encoded preproprotein is proteolytically processed to g>gg>enerate each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilag>gg>e development. Duplication of a reg>gg>ulatory reg>gg>ion downstream of this g>gg>ene causes a form of brachydactyly characterized by a malformed index fing>gg>er and second toe in human patients. [provided by RefSeq, Jul 2016]

BMP1 Gene

bone morphog>gg>enetic protein 1

This g>gg>ene encodes a protein that is capable of inducing>gg> formation of cartilag>gg>e in vivo. Althoug>gg>h other bone morphog>gg>enetic proteins are members of the Tg>Gg>F-beta superfamily, this g>gg>ene encodes a protein that is not closely related to other known g>gg>rowth factors. This g>gg>ene is expressed as alternatively spliced variants that share an N-terminal protease domain but differ in their C-terminal reg>gg>ion. [provided by RefSeq, Aug>gg> 2008]

CHD1 Gene

chromodomain helicase DNA binding>gg> protein 1

The CHD family of proteins is characterized by the presence of chromo (chromatin org>gg>anization modifier) domains and SNF2-related helicase/ATPase domains. CHD g>gg>enes alter g>gg>ene expression possibly by modification of chromatin structure thus altering>gg> access of the transcriptional apparatus to its chromosomal DNA template. [provided by RefSeq, Jul 2008]

CHD3 Gene

chromodomain helicase DNA binding>gg> protein 3

This g>gg>ene encodes a member of the CHD family of proteins which are characterized by the presence of chromo (chromatin org>gg>anization modifier) domains and SNF2-related helicase/ATPase domains. This protein is one of the components of a histone deacetylase complex referred to as the Mi-2/NuRD complex which participates in the remodeling>gg> of chromatin by deacetylating>gg> histones. Chromatin remodeling>gg> is essential for many processes including>gg> transcription. Autoantibodies ag>gg>ainst this protein are found in a subset of patients with dermatomyositis. Three alternatively spliced transcripts encoding>gg> different isoforms have been described. [provided by RefSeq, Jul 2008]

CHD2 Gene

chromodomain helicase DNA binding>gg> protein 2

The CHD family of proteins is characterized by the presence of chromo (chromatin org>gg>anization modifier) domains and SNF2-related helicase/ATPase domains. CHD g>gg>enes alter g>gg>ene expression possibly by modification of chromatin structure thus altering>gg> access of the transcriptional apparatus to its chromosomal DNA template. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

CHD5 Gene

chromodomain helicase DNA binding>gg> protein 5

This g>gg>ene encodes a member of the chromodomain helicase DNA-binding>gg> protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding>gg> domain and an additional functional domain. This g>gg>ene encodes a neuron-specific protein that may function in chromatin remodeling>gg> and g>gg>ene transcription. This g>gg>ene is a potential tumor suppressor g>gg>ene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012]

CHD4 Gene

chromodomain helicase DNA binding>gg> protein 4

The product of this g>gg>ene belong>gg>s to the SNF2/RAD54 helicase family. It represents the main component of the nucleosome remodeling>gg> and deacetylase complex and plays an important role in epig>gg>enetic transcriptional repression. Patients with dermatomyositis develop antibodies ag>gg>ainst this protein. Somatic mutations in this g>gg>ene are associated with serous endometrial tumors. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Jul 2014]

CHD7 Gene

chromodomain helicase DNA binding>gg> protein 7

This g>gg>ene encodes a protein that contains several helicase family domains. Mutations in this g>gg>ene have been found in some patients with the CHARg>Gg>E syndrome. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Oct 2015]

CHD6 Gene

chromodomain helicase DNA binding>gg> protein 6

This g>gg>ene encodes a member of the SNF2/RAD54 helicase protein family. The encoded protein contains two chromodomains, a helicase domain, and an ATPase domain. Several multi-subunit protein complexes remodel chromatin to allow patterns of cell type-specific g>gg>ene expression, and the encoded protein is thoug>gg>ht to be a core member of one or more of these chromatin remodeling>gg> complexes. The encoded protein may function as a transcriptional repressor and is involved in the cellular repression of influenza virus replication. [provided by RefSeq, Jul 2013]

CHD9 Gene

chromodomain helicase DNA binding>gg> protein 9

Predicted to enable several functions, including>gg> ATP binding>gg> activity; ATP hydrolysis activity; and ATP-dependent activity, acting>gg> on DNA. Predicted to be involved in DNA duplex unwinding>gg>; chromatin looping>gg>; and chromatin remodeling>gg>. Located in cytosol and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CHD8 Gene

chromodomain helicase DNA binding>gg> protein 8

This g>gg>ene encodes a member of the chromodomain-helicase-DNA binding>gg> protein family, which is characterized by a SNF2-like domain and two chromatin org>gg>anization modifier domains. The encoded protein also contains brahma and kismet domains, which are common to the subfamily of chromodomain-helicase-DNA binding>gg> proteins to which this protein belong>gg>s. This g>gg>ene has been shown to function in several processes that include transcriptional reg>gg>ulation, epig>gg>enetic remodeling>gg>, promotion of cell proliferation, and reg>gg>ulation of RNA synthesis. Allelic variants of this g>gg>ene are associated with autism spectrum disorder. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Dec 2016]

CAP1 Gene

CAP, adenylate cyclase-associated protein 1 (yeast)

The protein encoded by this g>gg>ene is related to the S. cerevisiae CAP protein, which is involved in the cyclic AMP pathway. The human protein is able to interact with other molecules of the same protein, as well as with CAP2 and actin. Alternatively spliced transcript variants encoding>gg> different isoforms have been identified. [provided by RefSeq, Aug>gg> 2016]

CAP2 Gene

CAP, adenylate cyclase-associated protein, 2 (yeast)

This g>gg>ene was identified by its similarity to the g>gg>ene for human adenylyl cyclase-associated protein. The function of the protein encoded by this g>gg>ene is unknown. However, the protein appears to be able to interact with adenylyl cyclase-associated protein and actin. [provided by RefSeq, Jul 2008]

CAPg>Gg> Gene

capping>gg> protein (actin filament), g>gg>elsolin-like

This g>gg>ene encodes a member of the g>gg>elsolin/villin family of actin-reg>gg>ulatory proteins. The encoded protein reversibly blocks the barbed ends of F-actin filaments in a Ca2+ and phosphoinositide-reg>gg>ulated manner, but does not sever preformed actin filaments. By capping>gg> the barbed ends of actin filaments, the encoded protein contributes to the control of actin-based motility in non-muscle cells. Alternatively spliced transcript variants have been observed for this g>gg>ene. [provided by RefSeq, Jan 2012]

MPZ Gene

myelin protein zero

This g>gg>ene is specifically expressed in Schwann cells of the peripheral nervous system and encodes a type I transmembrane g>gg>lycoprotein that is a major structural protein of the peripheral myelin sheath. The encoded protein contains a larg>gg>e hydrophobic extracellular domain and a smaller basic intracellular domain, which are essential for the formation and stabilization of the multilamellar structure of the compact myelin. Mutations in this g>gg>ene are associated with autosomal dominant form of Charcot-Marie-Tooth disease type 1 (CMT1B) and other polyneuropathies, such as Dejerine-Sottas syndrome (DSS) and cong>gg>enital hypomyelinating>gg> neuropathy (CHN). A recent study showed that two isoforms are produced from the same mRNA by use of alternative in-frame translation termination codons via a stop codon readthroug>gg>h mechanism. [provided by RefSeq, Oct 2015]

LOC105377638 Gene

adhesive plaque matrix protein-like

LOC105377639 Gene

adhesive plaque matrix protein-like

SRg>Gg>AP2B Gene

SLIT-ROBO Rho g>Gg>TPase activating>gg> protein 2B

This locus encodes a member of the SLIT-ROBO Rho g>Gg>TPase activating>gg> protein family. This human-specific locus resulted from incomplete seg>gg>mental duplication of the SLIT-ROBO Rho g>Gg>TPase activating>gg> protein 2 locus. The encoded protein lacks the g>Gg>TPase activating>gg> protein domain compared to proteins encoded by SLIT-ROBO Rho g>Gg>TPase activating>gg> protein 2. The functionality of the protein encoded by this locus has been questioned, as several normal individuals with homozyg>gg>ous deletions for this locus have been identified, and the expression of this locus appears to be much lower than the similar SLIT-ROBO Rho g>Gg>TPase activating>gg> protein 2C (SRg>Gg>AP2C) locus. The SRg>Gg>AP2C locus has been shown to encode a protein that functions antag>gg>onistically to SLIT-ROBO Rho g>Gg>TPase activating>gg> protein 2 in cortical neuron development. [provided by RefSeq, Dec 2012]

ZFP36L1 Gene

ZFP36 ring>gg> fing>gg>er protein-like 1

This g>gg>ene is a member of the TIS11 family of early response g>gg>enes, which are induced by various ag>gg>onists such as the phorbol ester TPA and the polypeptide mitog>gg>en Eg>Gg>F. This g>gg>ene is well conserved across species and has a promoter that contains motifs seen in other early-response g>gg>enes. The encoded protein contains a disting>gg>uishing>gg> putative zinc fing>gg>er domain with a repeating>gg> cys-his motif. This putative nuclear transcription factor most likely functions in reg>gg>ulating>gg> the response to g>gg>rowth factors. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Sep 2011]

ZFP36L2 Gene

ZFP36 ring>gg> fing>gg>er protein-like 2

This g>gg>ene is a member of the TIS11 family of early response g>gg>enes. Family members are induced by various ag>gg>onists such as the phorbol ester TPA and the polypeptide mitog>gg>en Eg>Gg>F. The encoded protein contains a disting>gg>uishing>gg> putative zinc fing>gg>er domain with a repeating>gg> cys-his motif. This putative nuclear transcription factor most likely functions in reg>gg>ulating>gg> the response to g>gg>rowth factors. [provided by RefSeq, Jul 2008]

PTP4A1P2 Gene

protein tyrosine phosphatase type IVA, member 1 pseudog>gg>ene 2

PTP4A1P3 Gene

protein tyrosine phosphatase type IVA, member 1 pseudog>gg>ene 3

PTP4A1P1 Gene

protein tyrosine phosphatase type IVA, member 1 pseudog>gg>ene 1

PTP4A1P6 Gene

protein tyrosine phosphatase type IVA, member 1 pseudog>gg>ene 6

PTP4A1P7 Gene

protein tyrosine phosphatase type IVA, member 1 pseudog>gg>ene 7

PTP4A1P4 Gene

protein tyrosine phosphatase type IVA, member 1 pseudog>gg>ene 4

PTP4A1P5 Gene

protein tyrosine phosphatase type IVA, member 1 pseudog>gg>ene 5

PRKXP1 Gene

protein kinase, X-linked, pseudog>gg>ene 1

PRKXP2 Gene

protein kinase, X-linked, pseudog>gg>ene 2

LOC101060275 Gene

nuclear pore complex-interacting>gg> protein family member B4-like

LOC101060274 Gene

uncharacterized protein CXorf49-like

PTBP1P Gene

polypyrimidine tract binding>gg> protein 1 pseudog>gg>ene

ZNF92P1Y Gene

zinc fing>gg>er protein 92 pseudog>gg>ene 1, Y-linked

LOC641746 Gene

g>gg>lycine cleavag>gg>e system protein H (aminomethyl carrier) pseudog>gg>ene

HSP90B1 Gene

heat shock protein 90kDa beta (g>Gg>rp94), member 1

This g>gg>ene encodes a member of a family of adenosine triphosphate(ATP)-metabolizing>gg> molecular chaperones with roles in stabilizing>gg> and folding>gg> other proteins. The encoded protein is localized to melanosomes and the endoplasmic reticulum. Expression of this protein is associated with a variety of pathog>gg>enic states, including>gg> tumor formation. There is a microRNA g>gg>ene located within the 5' exon of this g>gg>ene. There are pseudog>gg>enes for this g>gg>ene on chromosomes 1 and 15. [provided by RefSeq, Aug>gg> 2012]

LOC777650 Gene

UBX domain protein 2B pseudog>gg>ene

LOC102724737 Gene

40S ribosomal protein S8 pseudog>gg>ene

LOC102723519 Gene

putative uncharacterized protein ENSP00000344348

RPL26P37 Gene

ribosomal protein L26 pseudog>gg>ene 37

RPL26P36 Gene

ribosomal protein L26 pseudog>gg>ene 36

RPL26P35 Gene

ribosomal protein L26 pseudog>gg>ene 35

RPL26P34 Gene

ribosomal protein L26 pseudog>gg>ene 34

RPL26P33 Gene

ribosomal protein L26 pseudog>gg>ene 33

PPP1R7 Gene

protein phosphatase 1, reg>gg>ulatory subunit 7

This g>gg>ene encodes a protein subunit that reg>gg>ulates the activity of the serine/threonine phosphatase, protein phosphatase-1. The encoded protein is required for completion of the mitotic cycle and for targ>gg>eting>gg> protein phosphatase-1 to mitotic kinetochores. Alternate splicing>gg> results in multiple transcript variants. [provided by RefSeq, Sep 2013]

RPL26P31 Gene

ribosomal protein L26 pseudog>gg>ene 31

CAMSAP2 Gene

calmodulin reg>gg>ulated spectrin-associated protein family, member 2

Enables microtubule minus-end binding>gg> activity. Involved in several processes, including>gg> axon development; reg>gg>ulation of dendrite development; and reg>gg>ulation of org>gg>anelle org>gg>anization. Located in g>Gg>olg>gg>i apparatus; cytosol; and microtubule cytoskeleton. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CAMSAP3 Gene

calmodulin reg>gg>ulated spectrin-associated protein family, member 3

Enables actin filament binding>gg> activity and microtubule minus-end binding>gg> activity. Involved in several processes, including>gg> microtubule cytoskeleton org>gg>anization; reg>gg>ulation of org>gg>anelle org>gg>anization; and zonula adherens maintenance. Located in cytoplasm; microtubule cytoskeleton; and zonula adherens. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PPP1R2 Gene

protein phosphatase 1, reg>gg>ulatory (inhibitor) subunit 2

Protein phosphatase-1 (PP1) is one of the main eukaryotic serine/threonine phosphatases. The protein encoded by this g>gg>ene binds to the catalytic subunit of PP1, strong>gg>ly inhibiting>gg> its activity. Ten related pseudog>gg>enes have been found throug>gg>hout the human g>gg>enome. Several splice variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Oct 2015]

LOC105373386 Gene

formin-like protein 5

LOC105373382 Gene

SH3 domain-containing>gg> protein C23A1.17-like

IFITM4P Gene

interferon induced transmembrane protein 4 pseudog>gg>ene

LOC100420119 Gene

transmembrane protein 132B pseudog>gg>ene

BFSP2 Gene

beaded filament structural protein 2, phakinin

More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this g>gg>ene (phakinin), and filensin, are expressed only after fiber cell differentiation has beg>gg>un. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this g>gg>ene have been associated with juvenile-onset, prog>gg>ressive cataracts and Dowling>gg>-Meara epidermolysis bullosa simplex. [provided by RefSeq, Jun 2009]

BFSP1 Gene

beaded filament structural protein 1, filensin

This g>gg>ene encodes a lens-specific intermediate filament-like protein named filensin. The encoded protein is expressed in lens fiber cells after differentiation has beg>gg>un. This protein functions as a component of the beaded filament which is a cytoskeletal structure found in lens fiber cells. Mutations in this g>gg>ene are the cause of autosomal recessive cortical juvenile-onset cataract. Alternate splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2013]

TTTY21B Gene

testis-specific transcript, Y-linked 21B (non-protein coding>gg>)

LINC00328-2P Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 328-2, pseudog>gg>ene

LINC01298 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1298

Sg>Gg>K494 Gene

uncharacterized serine/threonine-protein kinase Sg>gg>K494

Predicted to enable protein kinase activity. Predicted to be involved in chromatin remodeling>gg>. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC102723964 Gene

alpha/beta hydrolase domain-containing>gg> protein 17A-like

LINC01296 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1296

LOC644504 Gene

novel protein similar to chondroitin sulfate g>Gg>alNAcT-2 (g>Gg>ALNACT-2)

CDY4P Gene

chromodomain protein, Y-linked 4 pseudog>gg>ene

LOC100288570 Gene

g>gg>lycosylphosphatidylinositol anchor attachment protein 1 homolog>gg> (yeast) pseudog>gg>ene

MRPS34 Gene

mitochondrial ribosomal protein S34

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 28S subunit protein. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2014]

HYPM Gene

hunting>gg>tin interacting>gg> protein M

This g>gg>ene encodes a protein shown to interact with hunting>gg>tin, which contains an expanded polyg>gg>lutamine tract in individuals with Hunting>gg>ton's disease (PMID: 9700202). [provided by RefSeq, Aug>gg> 2011]

AAMP Gene

ang>gg>io-associated, mig>gg>ratory cell protein

The g>gg>ene is a member of the immunog>gg>lobulin superfamily. The encoded protein is associated with ang>gg>iog>gg>enesis, with potential roles in endothelial tube formation and the mig>gg>ration of endothelial cells. It may also reg>gg>ulate smooth muscle cell mig>gg>ration via the RhoA pathway. The encoded protein can bind to heparin and may mediate heparin-sensitive cell adhesion. [provided by RefSeq, Oct 2014]

HYPK Gene

hunting>gg>tin interacting>gg> protein K

Enables protein folding>gg> chaperone. Involved in neg>gg>ative reg>gg>ulation of apoptotic process and protein stabilization. Located in cytoplasm; microtubule cytoskeleton; and nucleoplasm. Part of protein-containing>gg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SDIM1 Gene

stress responsive DNAJB4 interacting>gg> membrane protein 1

Enables protein homodimerization activity. Involved in protein folding>gg>. Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105372810 Gene

putative zinc fing>gg>er protein 355P

PTK2 Gene

protein tyrosine kinase 2

This g>gg>ene encodes a cytoplasmic protein tyrosine kinase which is found concentrated in the focal adhesions that form between cells g>gg>rowing>gg> in the presence of extracellular matrix constituents. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks sig>gg>nificant sequence similarity to kinases from other subfamilies. Activation of this g>gg>ene may be an important early step in cell g>gg>rowth and intracellular sig>gg>nal transduction pathways trig>gg>g>gg>ered in response to certain neural peptides or to cell interactions with the extracellular matrix. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jun 2017]

LOC105369195 Gene

putative uncharacterized protein FLJ44672

PTK7 Gene

protein tyrosine kinase 7 (inactive)

This g>gg>ene encodes a member of the g>receptorg> protein tyrosine kinase family of proteins that transduce extracellular sig>gg>nals across the cell membrane. The encoded protein lacks detectable catalytic tyrosine kinase activity, is involved in the Wnt sig>gg>naling>gg> pathway and plays a role in multiple cellular processes including>gg> polarity and adhesion. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Jul 2012]

PTK6 Gene

protein tyrosine kinase 6

The protein encoded by this g>gg>ene is a cytoplasmic nong>receptorg> protein kinase which may function as an intracellular sig>gg>nal transducer in epithelial tissues. Overexpression of this g>gg>ene in mammary epithelial cells leads to sensitization of the cells to epidermal g>gg>rowth factor and results in a partially transformed phenotype. Expression of this g>gg>ene has been detected at low levels in some breast tumors but not in normal breast tissue. The encoded protein has been shown to underg>gg>o autophosphorylation. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jan 2012]

LOC105369199 Gene

putative neuroblastoma breakpoint family member 6-like protein

PRKAA2 Gene

protein kinase, AMP-activated, alpha 2 catalytic subunit

The protein encoded by this g>gg>ene is a catalytic subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting>gg> of an alpha catalytic subunit, and non-catalytic beta and g>gg>amma subunits. AMPK is an important energ>gg>y-sensing>gg> enzyme that monitors cellular energ>gg>y status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylg>gg>lutaryl-CoA reductase (HMg>Gg>CR), key enzymes involved in reg>gg>ulating>gg> de novo biosynthesis of fatty acid and cholesterol. Studies of the mouse counterpart sug>gg>g>gg>est that this catalytic subunit may control whole-body insulin sensitivity and is necessary for maintaining>gg> myocardial energ>gg>y homeostasis during>gg> ischemia. [provided by RefSeq, Jul 2008]

PRKAA1 Gene

protein kinase, AMP-activated, alpha 1 catalytic subunit

The protein encoded by this g>gg>ene belong>gg>s to the ser/thr protein kinase family. It is the catalytic subunit of the 5'-prime-AMP-activated protein kinase (AMPK). AMPK is a cellular energ>gg>y sensor conserved in all eukaryotic cells. The kinase activity of AMPK is activated by the stimuli that increase the cellular AMP/ATP ratio. AMPK reg>gg>ulates the activities of a number of key metabolic enzymes throug>gg>h phosphorylation. It protects cells from stresses that cause ATP depletion by switching>gg> off ATP-consuming>gg> biosynthetic pathways. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

ITg>Gg>B3BP Gene

integ>gg>rin beta 3 binding>gg> protein (beta3-endonexin)

This g>gg>ene encodes a transcriptional coreg>gg>ulator that binds to and enhances the activity of members of the nuclear g>receptorg> families, thyroid hormone g>receptorg>s and retinoid X g>receptorg>s. This protein also acts as a corepressor of NF-kappaB-dependent sig>gg>naling>gg>. This protein induces apoptosis in breast cancer cells throug>gg>h a caspase 2-mediated sig>gg>naling>gg> pathway. This protein is also a component of the centromere-specific histone H3 variant nucleosome associated complex (CENP-NAC) and may be involved in mitotic prog>gg>ression by recruiting>gg> the histone H3 variant CENP-A to the centromere. Alternate splicing>gg> results in multiple transcript variants. [provided by RefSeq, Sep 2011]

LOC100421901 Gene

immunog>gg>lobulin (CD79A) binding>gg> protein 1 pseudog>gg>ene

FLJ16171 Gene

FLJ16171 protein

ZNF157 Gene

zinc fing>gg>er protein 157

This g>gg>ene product is a likely zinc fing>gg>er family transcription factor. It contains KRAB-A and KRAB-B domains that act as transcriptional repressors in related proteins, and multiple zinc fing>gg>er DNA binding>gg> motifs and fing>gg>er linking>gg> reg>gg>ions characteristic of the Kruppel family. This g>gg>ene is part of a g>gg>ene cluster on chromosome Xp11.23. [provided by RefSeq, Jul 2008]

ZNF154 Gene

zinc fing>gg>er protein 154

This g>gg>ene encodes a protein that belong>gg>s to the zinc fing>gg>er Kruppel family of transcriptional reg>gg>ulators, whose members are thoug>gg>ht to function in normal and abnormal cell g>gg>rowth and differentiation. Hypermethylation of this g>gg>ene is associated with the recurrence of non muscle invasive bladder cancer. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Mar 2014]

ZNF155 Gene

zinc fing>gg>er protein 155

Predicted to enable DNA-binding>gg> transcription factor activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100419108 Gene

centromere protein L pseudog>gg>ene

RAB3IP Gene

RAB3A interacting>gg> protein

Enables g>gg>uanyl-nucleotide exchang>gg>e factor activity and identical protein binding>gg> activity. Involved in several processes, including>gg> positive reg>gg>ulation of cilium assembly; protein localization to motile cilium; and protein targ>gg>eting>gg> to membrane. Located in centrosome; cytosol; and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC101928755 Gene

putative uncharacterized protein FLJ44672

LOC105369229 Gene

putative POM121-like protein 1-like

LOC105369224 Gene

zinc fing>gg>er protein 806 pseudog>gg>ene

HOMER2P2 Gene

homer scaffolding>gg> protein 2 pseudog>gg>ene 2

FBLIM1 Gene

filamin binding>gg> LIM protein 1

This g>gg>ene encodes a protein with an N-terminal filamin-binding>gg> domain, a central proline-rich domain, and, multiple C-terminal LIM domains. This protein localizes at cell junctions and may link cell adhesion structures to the actin cytoskeleton. This protein may be involved in the assembly and stabilization of actin-filaments and likely plays a role in modulating>gg> cell adhesion, cell morpholog>gg>y and cell motility. This protein also localizes to the nucleus and may affect cardiomyocyte differentiation after binding>gg> with the CSX/NKX2-5 transcription factor. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Jul 2008]

DAXX Gene

death-domain associated protein

This g>gg>ene encodes a multifunctional protein that resides in multiple locations in the nucleus and in the cytoplasm. It interacts with a wide variety of proteins, such as apoptosis antig>gg>en Fas, centromere protein C, and transcription factor erythroblastosis virus E26 oncog>gg>ene homolog>gg> 1. In the nucleus, the encoded protein functions as a potent transcription repressor that binds to sumoylated transcription factors. Its repression can be relieved by the sequestration of this protein into promyelocytic leukemia nuclear bodies or nucleoli. This protein also associates with centromeres in g>Gg>2 phase. In the cytoplasm, the encoded protein may function to reg>gg>ulate apoptosis. The subcellular localization and function of this protein are modulated by post-translational modifications, including>gg> sumoylation, phosphorylation and polyubiquitination. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Nov 2008]

LOC441907 Gene

ribosomal protein L6 pseudog>gg>ene

TMEM200C Gene

transmembrane protein 200C

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

DSCR9 Gene

Down syndrome critical reg>gg>ion 9 (non-protein coding>gg>)

LOC105371371 Gene

SH3 domain-binding>gg> protein 1-like

WASH3P Gene

WAS protein family homolog>gg> 3 pseudog>gg>ene

Predicted to enable alpha-tubulin binding>gg> activity and g>gg>amma-tubulin binding>gg> activity. Involved in several processes, including>gg> Arp2/3 complex-mediated actin nucleation; early endosome to late endosome transport; and protein targ>gg>eting>gg> to lysosome. Located in endosome; filopodium; and lamellipodium. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC102723999 Gene

rho g>Gg>TPase-activating>gg> protein 23-like

LOC647503 Gene

NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae) pseudog>gg>ene

RBM11P1 Gene

RNA binding>gg> motif protein 11 pseudog>gg>ene 1

LOC724104 Gene

SH3 domain binding>gg> g>gg>lutamate-rich protein like 3 pseudog>gg>ene

g>Gg>PRIN1 Gene

g>Gg> protein reg>gg>ulated inducer of neurite outg>gg>rowth 1

Predicted to enable phosphoprotein binding>gg> activity. Predicted to be involved in neuron projection development. Predicted to be located in g>gg>rowth cone. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL7AP26 Gene

ribosomal protein L7a pseudog>gg>ene 26

ZNF444P1 Gene

zinc fing>gg>er protein 444 pseudog>gg>ene 1

RBMY1C Gene

RNA binding>gg> motif protein, Y-linked, family 1, member C

Enables RNA binding>gg> activity and identical protein binding>gg> activity. Involved in reg>gg>ulation of RNA splicing>gg>. Located in nucleus. Part of protein-containing>gg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RBMY1B Gene

RNA binding>gg> motif protein, Y-linked, family 1, member B

This g>gg>ene encodes a protein containing>gg> an RNA-binding>gg> motif in the N-terminus and four SRg>Gg>Y (serine, arg>gg>inine, g>gg>lycine, tyrosine) boxes in the C-terminus. This protein likely functions as a splicing>gg> factor during>gg> spermatog>gg>enesis. Multiple closely related paralog>gg>s of this g>gg>ene are found in a g>gg>ene cluster in the AZFb azoospermia factor reg>gg>ion of chromosome Y. Most of these related copies are thoug>gg>ht to be pseudog>gg>enes, thoug>gg>h several likely encode functional proteins. [provided by RefSeq, Mar 2016]

LOC105373280 Gene

RNA-binding>gg> protein 33-like

RBMY1F Gene

RNA binding>gg> motif protein, Y-linked, family 1, member F

This g>gg>ene encodes a protein containing>gg> an RNA-binding>gg> motif in the N-terminus and four SRg>Gg>Y (serine, arg>gg>inine, g>gg>lycine, tyrosine) boxes in the C-terminus. Multiple copies of this g>gg>ene are found in the AZFb azoospermia factor reg>gg>ion of chromosome Y and the encoded protein is thoug>gg>ht to be involved in spermatog>gg>enesis. Most copies of this locus are pseudog>gg>enes, althoug>gg>h six hig>gg>hly similar copies have full-leng>gg>th ORFs and are considered functional. Four functional copies of this g>gg>ene are found within inverted repeat IR2; two functional copies of this g>gg>ene are found in palindrome P3, along>gg> with two copies of PTPN13-like, Y-linked. [provided by RefSeq, Jul 2008]

RBMY1E Gene

RNA binding>gg> motif protein, Y-linked, family 1, member E

This g>gg>ene encodes a protein containing>gg> an RNA-binding>gg> motif in the N-terminus and four SRg>Gg>Y (serine, arg>gg>inine, g>gg>lycine, tyrosine) boxes in the C-terminus. Multiple copies of this g>gg>ene are found in the AZFb azoospermia factor reg>gg>ion of chromosome Y and the encoded protein is thoug>gg>ht to be involved in spermatog>gg>enesis. Most copies of this locus are pseudog>gg>enes, althoug>gg>h six hig>gg>hly similar copies have full-leng>gg>th ORFs and are considered functional. Four functional copies of this g>gg>ene are found within inverted repeat IR2; two functional copies of this g>gg>ene are found in palindrome P3, along>gg> with two copies of PTPN13-like, Y-linked. [provided by RefSeq, Jul 2008]

RBMY1D Gene

RNA binding>gg> motif protein, Y-linked, family 1, member D

This g>gg>ene encodes a protein containing>gg> an RNA-binding>gg> motif in the N-terminus and four SRg>Gg>Y (serine, arg>gg>inine, g>gg>lycine, tyrosine) boxes in the C-terminus. This protein likely functions as a splicing>gg> factor during>gg> spermatog>gg>enesis. Multiple closely related paralog>gg>s of this g>gg>ene are found in a g>gg>ene cluster in the AZFb azoospermia factor reg>gg>ion of chromosome Y. Most of these related copies are thoug>gg>ht to be pseudog>gg>enes, thoug>gg>h several likely encode functional proteins. [provided by RefSeq, Mar 2016]

MSI2 Gene

musashi RNA-binding>gg> protein 2

This g>gg>ene encodes an RNA-binding>gg> protein that is a member of the Musashi protein family. The encoded protein is transcriptional reg>gg>ulator that targ>gg>ets g>gg>enes involved in development and cell cycle reg>gg>ulation. Mutations in this g>gg>ene are associated with poor prog>gg>nosis in certain types of cancers. This g>gg>ene has also been shown to be rearrang>gg>ed in certain cancer cells. [provided by RefSeq, Apr 2016]

MSI1 Gene

musashi RNA-binding>gg> protein 1

This g>gg>ene encodes a protein containing>gg> two conserved tandem RNA recog>gg>nition motifs. Similar proteins in other species function as RNA-binding>gg> proteins and play central roles in posttranscriptional g>gg>ene reg>gg>ulation. Expression of this g>gg>ene has been correlated with the g>gg>rade of the malig>gg>nancy and proliferative activity in g>gg>liomas and melanomas. A pseudog>gg>ene for this g>gg>ene is located on chromosome 11q13. [provided by RefSeq, Jul 2008]

NOL8P1 Gene

nucleolar protein 8 pseudog>gg>ene 1

LOC102724931 Gene

C-terminal-binding>gg> protein 2 pseudog>gg>ene

MFAP3L Gene

microfibrillar-associated protein 3-like

Located in several cellular components, including>gg> cell junction; nucleoplasm; and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMDT1 Gene

sing>gg>le-pass membrane protein with aspartate-rich tail 1

This g>gg>ene encodes a core reg>gg>ulatory component of a calcium channel in the mitochondrial inner membrane. [provided by RefSeq, Apr 2017]

LOC344065 Gene

zinc fing>gg>er protein 184 pseudog>gg>ene

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FAM90A8P Gene

putative protein FAM90A8

FAM90A8 belong>gg>s to subfamily II of the primate-specific FAM90A g>gg>ene family, which orig>gg>inated from multiple duplications and rearrang>gg>ements (Bosch et al., 2007 [PubMed 17684299]). For backg>gg>round information on the FAM90A g>gg>ene family, as well as information on the evolution of FAM90A g>gg>enes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009]

SETSIP Gene

SET-like protein

Enables chromatin binding>gg> activity. Involved in endothelial cell differentiation and positive reg>gg>ulation of transcription by RNA polymerase II. Located in cytoplasm; lipid droplet; and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RNF6 Gene

ring>gg> fing>gg>er protein (C3H2C3 type) 6

The protein encoded by this g>gg>ene contains a RINg>Gg>-H2 fing>gg>er motif. Deletions and mutations in this g>gg>ene were detected in esophag>gg>eal squamous cell carcinoma (ESCC), sug>gg>g>gg>esting>gg> that this protein may be a potential tumor suppressor. Studies of the mouse counterpart sug>gg>g>gg>ested a role of this protein in the transcription reg>gg>ulation that controls g>gg>erminal differentiation. Multiple alternatively spliced transcript variants encoding>gg> the same protein are observed. [provided by RefSeq, Jul 2008]

RNF7 Gene

ring>gg> fing>gg>er protein 7

The protein encoded by this g>gg>ene is a hig>gg>hly conserved ring>gg> fing>gg>er protein. It is an essential subunit of SKP1-cullin/CDC53-F box protein ubiquitin lig>gg>ases, which are a part of the protein deg>gg>radation machinery important for cell cycle prog>gg>ression and sig>gg>nal transduction. This protein interacts with, and is a substrate of, casein kinase II (CSNK2A1/CKII). The phosphorylation of this protein by CSNK2A1 has been shown to promote the deg>gg>radation of IkappaBalpha (CHUK/IKK-alpha/IKBKA) and p27Kip1(CDKN1B). Alternatively spliced transcript variants encoding>gg> distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

RNF4 Gene

ring>gg> fing>gg>er protein 4

The protein encoded by this g>gg>ene contains a RINg>Gg> fing>gg>er motif and acts as a transcription reg>gg>ulator. This protein has been shown to interact with, and inhibit the activity of, TRPS1, a transcription suppressor of g>Gg>ATA-mediated transcription. Transcription repressor ZNF278/PATZ is found to interact with this protein, and thus reduce the enhancement of androg>gg>en g>receptorg>-dependent transcription mediated by this protein. Studies of the mouse and rat counterparts sug>gg>g>gg>ested a role of this protein in spermatog>gg>enesis. A pseudog>gg>ene of this g>gg>ene is found on chromosome 1.[provided by RefSeq, Jul 2010]

RNF2 Gene

ring>gg> fing>gg>er protein 2

Polycomb g>gg>roup (Pcg>Gg>) of proteins form the multiprotein complexes that are important for the transcription repression of various g>gg>enes involved in development and cell proliferation. The protein encoded by this g>gg>ene is one of the Pcg>Gg> proteins. It has been shown to interact with, and suppress the activity of, transcription factor CP2 (TFCP2/CP2). Studies of the mouse counterpart sug>gg>g>gg>ested the involvement of this g>gg>ene in the specification of anterior-posterior axis, as well as in cell proliferation in early development. This protein was also found to interact with hunting>gg>tin interacting>gg> protein 2 (HIP2), an ubiquitin-conjug>gg>ating>gg> enzyme, and possess ubiquitin lig>gg>ase activity. [provided by RefSeq, Jul 2008]

RPL7L1P13 Gene

ribosomal protein L7-like 1 pseudog>gg>ene 13

LOC100301990 Gene

zinc fing>gg>er protein 610 pseudog>gg>ene

LINC01507 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1507

LINC01506 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1506

LINC01505 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1505

LINC01503 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1503

LINC01502 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1502

LINC01501 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1501

LINC01500 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1500

LOC105376334 Gene

ankyrin repeat domain-containing>gg> protein 36B pseudog>gg>ene

LINC01509 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1509

LINC01508 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1508

RPL39P11 Gene

ribosomal protein L39 pseudog>gg>ene 11

RPL39P10 Gene

ribosomal protein L39 pseudog>gg>ene 10

RPL39P12 Gene

ribosomal protein L39 pseudog>gg>ene 12

RPL39P15 Gene

ribosomal protein L39 pseudog>gg>ene 15

RPL39P14 Gene

ribosomal protein L39 pseudog>gg>ene 14

RPL39P17 Gene

ribosomal protein L39 pseudog>gg>ene 17

RPL39P16 Gene

ribosomal protein L39 pseudog>gg>ene 16

RPL39P19 Gene

ribosomal protein L39 pseudog>gg>ene 19

HYDIN Gene

HYDIN, axonemal central pair apparatus protein

This g>gg>ene encodes a protein that may be involved in cilia motility. Mutations in this g>gg>ene cause of autosomal recessive primary ciliary dyskinesia-5, a disorder characterized by the accumulation of cerebrospinal fluid within the ventricles of the brain. A duplicate copy of this g>gg>ene has been found in humans on chromosome 1. [provided by RefSeq, Jan 2013]

LOC100420509 Gene

X-linked inhibitor of apoptosis, E3 ubiquitin protein lig>gg>ase pseudog>gg>ene

LOC644070 Gene

putative g>gg>erm cell-specific g>gg>ene 1-like protein 2

Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MIATNB Gene

MIAT neig>gg>hbor (non-protein coding>gg>)

ZNF887P Gene

zinc fing>gg>er protein 887, pseudog>gg>ene

ABI3BP Gene

ABI family, member 3 (NESH) binding>gg> protein

Predicted to enable actin filament binding>gg> activity. Predicted to be involved in several processes, including>gg> extracellular matrix org>gg>anization; positive reg>gg>ulation of cell-substrate adhesion; and reg>gg>ulation of postsynapse org>gg>anization. Located in collag>gg>en-containing>gg> extracellular matrix and extracellular space. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC101060187 Gene

putative uncharacterized protein FLJ25328

LOC101060181 Gene

zinc fing>gg>er protein ZnFP12

LOC403312 Gene

putative uncharacterized protein Mg>Gg>C39545

LINC00368 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 368

RPS20P12 Gene

ribosomal protein S20 pseudog>gg>ene 12

LINC00365 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 365

LINC00366 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 366

LINC00367 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 367

LINC00362 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 362

LINC00363 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 363

LOC101927158 Gene

40S ribosomal protein SA-like

g>Gg>CSHP5 Gene

g>gg>lycine cleavag>gg>e system protein H pseudog>gg>ene 5

g>Gg>CSHP4 Gene

g>gg>lycine cleavag>gg>e system protein H (aminomethyl carrier) pseudog>gg>ene 4

g>Gg>CSHP3 Gene

g>gg>lycine cleavag>gg>e system protein H (aminomethyl carrier) pseudog>gg>ene 3

NPIPA8 Gene

nuclear pore complex interacting>gg> protein family, member A8

NPIPA5 Gene

nuclear pore complex interacting>gg> protein family, member A5

NPIPA7 Gene

nuclear pore complex interacting>gg> protein family, member A7

NPIPA1 Gene

nuclear pore complex interacting>gg> protein family, member A1

Predicted to be involved in mRNA transport and protein transport. Predicted to be located in nuclear membrane. Predicted to be part of nuclear pore. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NPIPA2 Gene

nuclear pore complex interacting>gg> protein family, member A2

Predicted to be involved in mRNA transport and protein transport. Predicted to be located in nuclear membrane. Predicted to be part of nuclear pore. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NPIPA3 Gene

nuclear pore complex interacting>gg> protein family, member A3

LOC105372824 Gene

uncharacterized protein C21orf124

HIPK3 Gene

homeodomain interacting>gg> protein kinase 3

Enables protein serine/threonine kinase activity. Involved in mRNA transcription; neg>gg>ative reg>gg>ulation of apoptotic process; and protein phosphorylation. Located in cytosol; nuclear body; and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

HIPK1 Gene

homeodomain interacting>gg> protein kinase 1

The protein encoded by this g>gg>ene belong>gg>s to the Ser/Thr family of protein kinases and HIPK subfamily. It phosphorylates homeodomain transcription factors and may also function as a co-repressor for homeodomain transcription factors. Alternative splicing>gg> results in four transcript variants encoding>gg> four distinct isoforms. [provided by RefSeq, Jul 2008]

HIPK4 Gene

homeodomain interacting>gg> protein kinase 4

This g>gg>ene encodes a member of the homeodomain interacting>gg> protein kinase (HIPK) family of proteins. While other members of this family are found throug>gg>hout vertebrates, this member is present only in mammals. Compared to other members of this family, the encoded protein lacks a nuclear localization sig>gg>nal and a C-terminal autoinhibitory domain. The encoded protein exhibits kinase activity and may phosphorylate the tumor suppressor protein p53. [provided by RefSeq, Jul 2016]

NAPg>Gg> Gene

N-ethylmaleimide-sensitive factor attachment protein, g>gg>amma

This g>gg>ene encodes soluble NSF attachment protein g>gg>amma. The soluble NSF attachment proteins (SNAPs) enable N-ethyl-maleimide-sensitive fusion protein (NSF) to bind to targ>gg>et membranes. NSF and SNAPs appear to be g>gg>eneral components of the intracellular membrane fusion apparatus, and their action at specific sites of fusion must be controlled by SNAP g>receptorg>s particular to the membranes being>gg> fused. The product of this g>gg>ene mediates platelet exocytosis and controls the membrane fusion events of this process.[provided by RefSeq, Dec 2008]

NAPB Gene

N-ethylmaleimide-sensitive factor attachment protein, beta

This g>gg>ene encodes a member of the soluble N-ethyl-maleimide-sensitive fusion attachment protein (SNAP) family. SNAP proteins play a critical role in the docking>gg> and fusion of vesicles to targ>gg>et membranes as part of the 20S NSF-SNAP-SNARE complex. This g>gg>ene encodes the SNAP beta isoform which has been shown to be preferentially expressed in brain tissue. The encoded protein also interacts with the g>Gg>luR2 α-amino-3-hydroxy-5-methyl-4-isoxazolepropionate (AMPA) g>receptorg> subunit C-terminus and may play a role as a chaperone in the molecular processing>gg> of the AMPA g>receptorg>. [provided by RefSeq, Mar 2017]

NAPA Gene

N-ethylmaleimide-sensitive factor attachment protein, alpha

This g>gg>ene encodes a member of the soluble NSF attachment protein (SNAP) family. SNAP proteins play a critical role in the docking>gg> and fusion of vesicles to targ>gg>et membranes as part of the 20S NSF-SNAP-SNARE complex. The encoded protein plays a role in the completion of membrane fusion by mediating>gg> the interaction of N-ethylmaleimide-sensitive factor (NSF) with the vesicle-associated and membrane-associated SNAP g>receptorg> (SNARE) complex, and stimulating>gg> the ATPase activity of NSF. Alternatively spliced transcript variants have been observed for this g>gg>ene. [provided by RefSeq, Jun 2011]

LOC105369425 Gene

tripartite motif-containing>gg> protein LOC642612

LOC653380 Gene

TBC1 domain family member 3C-like protein ENSP00000341742

TMEM125 Gene

transmembrane protein 125

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM127 Gene

transmembrane protein 127

This g>gg>ene encodes a transmembrane protein with four predicted transmembrane domains. The protein is associated with a subpopulation of vesicular org>gg>anelles corresponding>gg> to early endosomal structures, with the g>Gg>olg>gg>i, and with lysosomes, and may participate in protein trafficking>gg> between these structures. Mutations in this g>gg>ene and several other g>gg>enes cause pheochromocytomas. Alternatively spliced transcript variants encoding>gg> the same protein have been identified. [provided by RefSeq, Aug>gg> 2022]

TMEM121 Gene

transmembrane protein 121

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM123 Gene

transmembrane protein 123

This g>gg>ene encodes a hig>gg>hly g>gg>lycosylated transmembrane protein with a hig>gg>h content of threonine and serine residues in its extracellular domain, similar to a broadly defined categ>gg>ory of proteins termed mucins. Exposure of some cell types to anti-PORIMIN (pro-oncosis g>receptorg> inducing>gg> membrane injury) antibody, crosslinks this protein on the cell surface and induces a type of cell death termed oncosis. Oncosis is distinct from apoptosis and is characterized by a loss of cell membrane integ>gg>rity without DNA frag>gg>mentation. This g>gg>ene product is proposed to function as a cell surface g>receptorg> that mediates cell death. [provided by RefSeq, Jul 2008]

g>Gg>JA1P1 Gene

g>gg>ap junction protein, alpha 1, 43kDa pseudog>gg>ene 1

TMEM128 Gene

transmembrane protein 128

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105371844 Gene

putative speedy protein E6

LOC100500934 Gene

ring>gg>-box 1, E3 ubiquitin protein lig>gg>ase pseudog>gg>ene

Ig>Gg>FBP6 Gene

insulin-like g>gg>rowth factor binding>gg> protein 6

Enables identical protein binding>gg> activity and insulin-like g>gg>rowth factor II binding>gg> activity. Involved in cell mig>gg>ration and positive reg>gg>ulation of stress-activated MAPK cascade. Part of insulin-like g>gg>rowth factor binary complex. Implicated in obesity. Biomarker of breast cancer; in situ carcinoma; leiomyoma; and neovascular inflammatory vitreoretinopathy. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PELP1 Gene

proline, g>gg>lutamate and leucine rich protein 1

This g>gg>ene encodes a transcription factor which coactivates transcription of estrog>gg>en g>receptorg> responsive g>gg>enes and corepresses g>gg>enes activated by other hormone g>receptorg>s or sequence-specific transcription factors. Expression of this g>gg>ene is reg>gg>ulated by both members of the estrog>gg>en g>receptorg> family. This g>gg>ene may be involved in the prog>gg>ression of several types of cancer. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, May 2013]

LINC01144 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1144

S100A9 Gene

S100 calcium binding>gg> protein A9

The protein encoded by this g>gg>ene is a member of the S100 family of proteins containing>gg> 2 EF-hand calcium-binding>gg> motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide rang>gg>e of cells, and involved in the reg>gg>ulation of a number of cellular processes such as cell cycle prog>gg>ression and differentiation. S100 g>gg>enes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition of casein kinase and altered expression of this protein is associated with the disease cystic fibrosis. This antimicrobial protein exhibits antifung>gg>al and antibacterial activity. [provided by RefSeq, Nov 2014]

S100A8 Gene

S100 calcium binding>gg> protein A8

The protein encoded by this g>gg>ene is a member of the S100 family of proteins containing>gg> 2 EF-hand calcium-binding>gg> motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide rang>gg>e of cells, and involved in the reg>gg>ulation of a number of cellular processes such as cell cycle prog>gg>ression and differentiation. S100 g>gg>enes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition of casein kinase and as a cytokine. Altered expression of this protein is associated with the disease cystic fibrosis. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jan 2016]

S100A5 Gene

S100 calcium binding>gg> protein A5

The protein encoded by this g>gg>ene is a member of the S100 family of proteins containing>gg> 2 EF-hand calcium-binding>gg> motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide rang>gg>e of cells, and involved in the reg>gg>ulation of a number of cellular processes such as cell cycle prog>gg>ression and differentiation. S100 g>gg>enes include at least 13 members which are located as a cluster on chromosome 1q21. This protein has a Ca2+ affinity 20- to 100-fold hig>gg>her than the other S100 proteins studied under identical conditions. This protein also binds Zn2+ and Cu2+, and Cu2+ strong>gg>ly which impairs the binding>gg> of Ca2+. This protein is expressed in very restricted reg>gg>ions of the adult brain. [provided by RefSeq, Jul 2008]

S100A4 Gene

S100 calcium binding>gg> protein A4

The protein encoded by this g>gg>ene is a member of the S100 family of proteins containing>gg> 2 EF-hand calcium-binding>gg> motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide rang>gg>e of cells, and involved in the reg>gg>ulation of a number of cellular processes such as cell cycle prog>gg>ression and differentiation. S100 g>gg>enes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in motility, invasion, and tubulin polymerization. Chromosomal rearrang>gg>ements and altered expression of this g>gg>ene have been implicated in tumor metastasis. Multiple alternatively spliced variants, encoding>gg> the same protein, have been identified. [provided by RefSeq, Jul 2008]

S100A7 Gene

S100 calcium binding>gg> protein A7

The protein encoded by this g>gg>ene is a member of the S100 family of proteins containing>gg> 2 EF-hand calcium-binding>gg> motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide rang>gg>e of cells, and involved in the reg>gg>ulation of a number of cellular processes such as cell cycle prog>gg>ression and differentiation. S100 g>gg>enes include at least 13 members which are located as a cluster on chromosome 1q21. This protein differs from the other S100 proteins of known structure in its lack of calcium binding>gg> ability in one EF-hand at the N-terminus. The protein is overexpressed in hyperproliferative skin diseases, exhibits antimicrobial activities ag>gg>ainst bacteria and induces immunomodulatory activities. [provided by RefSeq, Nov 2014]

S100A6 Gene

S100 calcium binding>gg> protein A6

The protein encoded by this g>gg>ene is a member of the S100 family of proteins containing>gg> 2 EF-hand calcium-binding>gg> motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide rang>gg>e of cells, and involved in the reg>gg>ulation of a number of cellular processes such as cell cycle prog>gg>ression and differentiation. S100 g>gg>enes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in stimulation of Ca2+-dependent insulin release, stimulation of prolactin secretion, and exocytosis. Chromosomal rearrang>gg>ements and altered expression of this g>gg>ene have been implicated in melanoma. [provided by RefSeq, Jul 2008]

S100A1 Gene

S100 calcium binding>gg> protein A1

The protein encoded by this g>gg>ene is a member of the S100 family of proteins containing>gg> 2 EF-hand calcium-binding>gg> motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide rang>gg>e of cells, and involved in the reg>gg>ulation of a number of cellular processes such as cell cycle prog>gg>ression and differentiation. S100 g>gg>enes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in stimulation of Ca2+-induced Ca2+ release, inhibition of microtubule assembly, and inhibition of protein kinase C-mediated phosphorylation. Reduced expression of this protein has been implicated in cardiomyopathies. [provided by RefSeq, Jul 2008]

S100A3 Gene

S100 calcium binding>gg> protein A3

The protein encoded by this g>gg>ene is a member of the S100 family of proteins containing>gg> 2 EF-hand calcium-binding>gg> motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide rang>gg>e of cells, and involved in the reg>gg>ulation of a number of cellular processes such as cell cycle prog>gg>ression and differentiation. S100 g>gg>enes include at least 13 members which are located as a cluster on chromosome 1q21. This protein has the hig>gg>hest content of cysteines of all S100 proteins, has a hig>gg>h affinity for Zinc, and is hig>gg>hly expressed in human hair cuticle. The precise function of this protein is unknown. [provided by RefSeq, Jul 2008]

S100A2 Gene

S100 calcium binding>gg> protein A2

The protein encoded by this g>gg>ene is a member of the S100 family of proteins containing>gg> 2 EF-hand calcium-binding>gg> motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide rang>gg>e of cells, and involved in the reg>gg>ulation of a number of cellular processes such as cell cycle prog>gg>ression and differentiation. S100 g>gg>enes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may have a tumor suppressor function. Chromosomal rearrang>gg>ements and altered expression of this g>gg>ene have been implicated in breast cancer. [provided by RefSeq, Jul 2008]

LINC01140 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1140

g>Gg>PS2P1 Gene

g>Gg> protein pathway suppressor 2 pseudog>gg>ene 1

g>Gg>PS2P2 Gene

g>Gg> protein pathway suppressor 2 pseudog>gg>ene 2

LOC100289085 Gene

protein fem-1 homolog>gg> A-like

LOC644339 Gene

ankyrin repeat domain-containing>gg> protein 20A2-like

TMEM35 Gene

transmembrane protein 35

Enables acetylcholine g>receptorg> reg>gg>ulator activity. Involved in chaperone-mediated protein complex assembly and positive reg>gg>ulation of protein localization to cell surface. Located in endoplasmic reticulum. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RBAKDN Gene

RBAK downstream neig>gg>hbor (non-protein coding>gg>)

TUSC7 Gene

tumor suppressor candidate 7 (non-protein coding>gg>)

BRI3BP Gene

BRI3 binding>gg> protein

Located in mitochondrion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TUSC8 Gene

tumor suppressor candidate 8 (non-protein coding>gg>)

Enables miRNA inhibitor activity via base-pairing>gg>. Involved in lncRNA-mediated post-transcriptional g>gg>ene silencing>gg>. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100132857 Gene

heat shock protein 90kDa alpha (cytosolic), class B member 1 pseudog>gg>ene

LOC100131360 Gene

serine/threonine-protein phosphatase 4 reg>gg>ulatory subunit 2-like

LOC727983 Gene

putative POM121-like protein 1-like

RIMBP3B Gene

RIMS binding>gg> protein 3B

Predicted to enable benzodiazepine g>receptorg> binding>gg> activity. Predicted to be involved in fertilization and spermatid development. Predicted to be located in manchette. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RIMBP3C Gene

RIMS binding>gg> protein 3C

Predicted to enable benzodiazepine g>receptorg> binding>gg> activity. Predicted to be involved in fertilization and spermatid development. Predicted to be located in manchette. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100421009 Gene

UPF0607 protein ENSP00000381418-like pseudog>gg>ene

PMEL Gene

premelanosome protein

This g>gg>ene encodes a melanocyte-specific type I transmembrane g>gg>lycoprotein. The encoded protein is enriched in melanosomes, which are the melanin-producing>gg> org>gg>anelles in melanocytes, and plays an essential role in the structural org>gg>anization of premelanosomes. This protein is involved in g>gg>enerating>gg> internal matrix fibers that define the transition from Stag>gg>e I to Stag>gg>e II melanosomes. This protein underg>gg>oes a complex pattern of prosttranslational processing>gg> and modification that is essential to the proper functioning>gg> of the protein. A secreted form of this protein that is released by proteolytic ectodomain shedding>gg> may be used as a melanoma-specific serum marker. Alternate splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jan 2011]

ZNF699 Gene

zinc fing>gg>er protein 699

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF691 Gene

zinc fing>gg>er protein 691

Predicted to enable DNA-binding>gg> transcription factor activity and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF692 Gene

zinc fing>gg>er protein 692

Enables DNA-binding>gg> transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II and reg>gg>ulation of g>gg>luconeog>gg>enesis. Located in nucleolus and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF695 Gene

zinc fing>gg>er protein 695

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF697 Gene

zinc fing>gg>er protein 697

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF696 Gene

zinc fing>gg>er protein 696

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

COPZ1 Gene

coatomer protein complex, subunit zeta 1

This g>gg>ene encodes a subunit of the cytoplasmic coatamer protein complex, which is involved in autophag>gg>y and intracellular protein trafficking>gg>. The coatomer protein complex is comprised of seven subunits and functions as the coat protein of coat protein complex (COP)I-vesicles. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Nov 2012]

RPL21P35 Gene

ribosomal protein L21 pseudog>gg>ene 35

COPZ2 Gene

coatomer protein complex, subunit zeta 2

This g>gg>ene encodes a member of the adaptor complexes small subunit family. The encoded protein is a subunit of the coatomer protein complex, a seven-subunit complex that functions in the formation of COPI-type, non-clathrin-coated vesicles. COPI vesicles function in the retrog>gg>rade g>Gg>olg>gg>i-to-ER transport of dilysine-tag>gg>g>gg>ed proteins. [provided by RefSeq, Feb 2014]

LOC100419712 Gene

zinc fing>gg>er protein 12 pseudog>gg>ene

LOC100419715 Gene

zinc fing>gg>er protein 626 pseudog>gg>ene

TMEM14E Gene

transmembrane protein 14E

Predicted to be involved in reg>gg>ulation of heme biosynthetic process. Predicted to be located in membrane. Predicted to be active in mitochondrial membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100419716 Gene

zinc fing>gg>er protein 709 pseudog>gg>ene

SHB Gene

Src homolog>gg>y 2 domain containing>gg> adaptor protein B

Enables phosphotyrosine residue binding>gg> activity. Predicted to be involved in sig>gg>nal transduction. Predicted to act upstream of or within several processes, including>gg> hematopoietic stem cell proliferation; neg>gg>ative reg>gg>ulation of oocyte maturation; and positive reg>gg>ulation of immune response. Located in cytoplasmic ribonucleoprotein g>gg>ranule; cytosol; and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SHD Gene

Src homolog>gg>y 2 domain containing>gg> transforming>gg> protein D

Predicted to enable phosphotyrosine residue binding>gg> activity. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100286946 Gene

ribosomal protein S3A pseudog>gg>ene

ZNF343 Gene

zinc fing>gg>er protein 343

Enables sequence-specific double-stranded DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF341 Gene

zinc fing>gg>er protein 341

Enables DNA binding>gg> activity and DNA-binding>gg> transcription activator activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Located in nucleus. Implicated in hyper Ig>gg>E recurrent infection syndrome 3. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF347 Gene

zinc fing>gg>er protein 347

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF346 Gene

zinc fing>gg>er protein 346

The protein encoded by this g>gg>ene is a nucleolar, zinc fing>gg>er protein that preferentially binds to double-stranded (ds) RNA or RNA/DNA hybrids, rather than DNA alone. Mutational studies indicate that the zinc fing>gg>er domains are not only essential for dsRNA binding>gg>, but are also required for its nucleolar localization. The encoded protein may be involved in cell g>gg>rowth and survival. It plays a role in protecting>gg> neurons by inhibiting>gg> cell cycle re-entry via stimulation of p21 g>gg>ene expression. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants. [provided by RefSeq, Apr 2015]

ZNF345 Gene

zinc fing>gg>er protein 345

Enables sequence-specific double-stranded DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

IFI6 Gene

interferon, alpha-inducible protein 6

This g>gg>ene was first identified as one of the many g>gg>enes induced by interferon. The encoded protein may play a critical role in the reg>gg>ulation of apoptosis. A minisatellite that consists of 26 repeats of a 12 nucleotide repeating>gg> element resembling>gg> the mammalian splice donor consensus sequence beg>gg>ins near the end of the second exon. Alternatively spliced transcript variants that encode different isoforms by using>gg> the two downstream repeat units as splice donor sites have been described. [provided by RefSeq, Jul 2008]

RPS3A Gene

ribosomal protein S3A

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 40S subunit. The protein belong>gg>s to the S3AE family of ribosomal proteins. It is located in the cytoplasm. Disruption of the g>gg>ene encoding>gg> rat ribosomal protein S3a, also named v-fos transformation effector protein, in v-fos-transformed rat cells results in reversion of the transformed phenotype. This g>gg>ene is co-transcribed with the U73A and U73B small nucleolar RNA g>gg>enes, which are located in its fourth and third introns, respectively. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. Alternatively spliced transcript variants have been found for this g>gg>ene. [provided by RefSeq, May 2012]

DRg>Gg>2 Gene

developmentally reg>gg>ulated g>Gg>TP binding>gg> protein 2

This g>gg>ene encodes a g>Gg>TP-binding>gg> protein known to function in the reg>gg>ulation of cell g>gg>rowth and differentiation. Read-throug>gg>h transcripts containing>gg> this g>gg>ene and a downstream g>gg>ene have been identified, but they are not thoug>gg>ht to encode a fusion protein. This g>gg>ene is located within the Smith-Mag>gg>enis syndrome reg>gg>ion on chromosome 17. [provided by RefSeq, Jan 2012]

DRg>Gg>1 Gene

developmentally reg>gg>ulated g>Gg>TP binding>gg> protein 1

Enables several functions, including>gg> g>Gg>TPase activity; identical protein binding>gg> activity; and potassium ion binding>gg> activity. Involved in positive reg>gg>ulation of microtubule polymerization and reg>gg>ulation of mitotic spindle assembly. Located in cytosol and nuclear body. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00167 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 167

LINC00162 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 162

LINC00163 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 163

LINC00161 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 161

TMEM143 Gene

transmembrane protein 143

Predicted to act upstream of or within hematopoietic prog>gg>enitor cell differentiation. Located in mitochondrion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM140 Gene

transmembrane protein 140

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105379589 Gene

uncharacterized protein FLJ40521-like

JKAMP Gene

JNK1/MAPK8-associated membrane protein

Enables ubiquitin protein lig>gg>ase binding>gg> activity. Involved in ERAD pathway. Predicted to be located in endoplasmic reticulum membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00836 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 836

LINC00837 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 837

LINC00838 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 838

LINC00839 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 839

SMURF1 Gene

SMAD specific E3 ubiquitin protein lig>gg>ase 1

This g>gg>ene encodes a ubiquitin lig>gg>ase that is specific for g>receptorg>-reg>gg>ulated SMAD proteins in the bone morphog>gg>enetic protein (BMP) pathway. This protein plays a key roll in the reg>gg>ulation of cell motility, cell sig>gg>nalling>gg>, and cell polarity. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms.[provided by RefSeq, Dec 2010]

SMURF2 Gene

SMAD specific E3 ubiquitin protein lig>gg>ase 2

Enables SMAD binding>gg> activity; identical protein binding>gg> activity; and ubiquitin protein lig>gg>ase activity. Involved in neg>gg>ative reg>gg>ulation of transforming>gg> g>gg>rowth factor beta g>receptorg> sig>gg>naling>gg> pathway; positive reg>gg>ulation of trophoblast cell mig>gg>ration; and ubiquitin-dependent protein catabolic process. Located in nuclear speck. Part of ubiquitin lig>gg>ase complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RBM43P1 Gene

RNA binding>gg> motif protein 43 pseudog>gg>ene 1

SYCE3 Gene

synaptonemal complex central element protein 3

Predicted to be involved in reciprocal meiotic recombination; spermatog>gg>enesis; and synaptonemal complex assembly. Predicted to act upstream of or within positive reg>gg>ulation of apoptotic process; positive reg>gg>ulation of developmental process; and positive reg>gg>ulation of reproductive process. Predicted to be located in chromosome and nucleus. Predicted to be active in central element. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105379587 Gene

putative ubiquitin carboxyl-terminal hydrolase 17-like protein 23

COPg>Gg>2 Gene

coatomer protein complex, subunit g>gg>amma 2

Predicted to enable structural molecule activity. Involved in intra-g>Gg>olg>gg>i vesicle-mediated transport. Part of COPI vesicle coat. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

COPg>Gg>1 Gene

coatomer protein complex, subunit g>gg>amma 1

Predicted to enable structural molecule activity. Predicted to be involved in several processes, including>gg> g>Gg>olg>gg>i vesicle transport; establishment of g>Gg>olg>gg>i localization; and org>gg>anelle transport along>gg> microtubule. Located in g>Gg>olg>gg>i apparatus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105379423 Gene

putative uncharacterized protein DDB_g>Gg>0271982

g>Gg>TPBP4 Gene

g>Gg>TP binding>gg> protein 4

g>Gg>TP-binding>gg> proteins are g>Gg>TPases and function as molecular switches that can flip between two states: active, when g>Gg>TP is bound, and inactive, when g>Gg>DP is bound. 'Active' in this context usually means that the molecule acts as a sig>gg>nal to trig>gg>g>gg>er other events in the cell. When an extracellular lig>gg>and binds to a g>Gg>-protein-linked g>receptorg>, the g>receptorg> chang>gg>es its conformation and switches on the trimeric g>Gg> proteins that associate with it by causing>gg> them to eject their g>Gg>DP and replace it with g>Gg>TP. The switch is turned off when the g>Gg> protein hydrolyzes its own bound g>Gg>TP, converting>gg> it back to g>Gg>DP. But before that occurs, the active protein has an opportunity to diffuse away from the g>receptorg> and deliver its messag>gg>e for a prolong>gg>ed period to its downstream targ>gg>et. [provided by RefSeq, Jul 2008]

g>Gg>TPBP6 Gene

g>Gg>TP binding>gg> protein 6 (putative)

This g>gg>ene encodes a g>Gg>TP binding>gg> protein and is located in the pseudoautosomal reg>gg>ion (PAR) at the end of the short arms of the X and Y chromosomes. [provided by RefSeq, Nov 2011]

g>Gg>TPBP1 Gene

g>Gg>TP binding>gg> protein 1

This g>gg>ene is upreg>gg>ulated by interferon-g>gg>amma and encodes a protein that is a member of the Ag>Gg>P11/g>Gg>TPBP1 family of g>Gg>TP-binding>gg> proteins. A structurally similar protein has been found in mouse, where disruption of the g>gg>ene for that protein had no observable phenotype. [provided by RefSeq, Jul 2008]

g>Gg>TPBP3 Gene

g>Gg>TP binding>gg> protein 3 (mitochondrial)

This locus encodes a g>Gg>TP-binding>gg> protein. The encoded protein is localized to the mitochondria and may play a role in mitochondrial tRNA modification. Polymorphisms at this locus may be associated with severity of aminog>gg>lycoside-induced deafness, a disease associated with a mutation in the 12S rRNA. Alternatively spliced transcript variants encoding>gg> different isoforms have been described. [provided by RefSeq, Sep 2010]

g>Gg>TPBP2 Gene

g>Gg>TP binding>gg> protein 2

g>Gg>TP-binding>gg> proteins, or g>Gg> proteins, constitute a superfamily capable of binding>gg> g>Gg>TP or g>Gg>DP. g>Gg> proteins are activated by binding>gg> g>Gg>TP and are inactivated by hydrolyzing>gg> g>Gg>TP to g>Gg>DP. This g>gg>eneral mechanism enables g>Gg> proteins to perform a wide rang>gg>e of biolog>gg>ic activities.[supplied by OMIM, Jan 2003]

LOC105379425 Gene

ankyrin repeat domain-containing>gg> protein 20A2-like

g>Gg>TPBP8 Gene

g>Gg>TP-binding>gg> protein 8 (putative)

Predicted to enable g>Gg>TP binding>gg> activity; g>Gg>TPase activity; and metal ion binding>gg> activity. Located in mitochondrion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

Pg>Gg>g>Gg>T1BP2 Gene

protein g>gg>eranylg>gg>eranyltransferase type I, beta subunit pseudog>gg>ene 2

TIPIN Gene

TIMELESS interacting>gg> protein

The protein encoded by this g>gg>ene is part of the replisome complex, a g>gg>roup of proteins that support DNA replication. It binds TIM, which is involved in circadian rhythm reg>gg>ulation, and aids in protecting>gg> cells ag>gg>ainst DNA damag>gg>e and stress. Two pseudog>gg>enes and two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2014]

TMEM89 Gene

transmembrane protein 89

Located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FAM90A18P Gene

putative protein FAM90A18/FAM90A19

FAM90A18 belong>gg>s to subfamily II of the primate-specific FAM90A g>gg>ene family, which orig>gg>inated from multiple duplications and rearrang>gg>ements (Bosch et al., 2007 [PubMed 17684299]). For backg>gg>round information on the FAM90A g>gg>ene family, as well as information on the evolution of FAM90A g>gg>enes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009]

CWC15 Gene

CWC15 spliceosome-associated protein

Predicted to enable RNA binding>gg> activity. Involved in mRNA splicing>gg>, via spliceosome. Located in mitochondrion and nuclear speck. Part of Prp19 complex and U2-type catalytic step 2 spliceosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM82 Gene

transmembrane protein 82

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS14P2 Gene

ribosomal protein S14 pseudog>gg>ene 2

LOC100420317 Gene

charg>gg>ed multivesicular body protein 5 pseudog>gg>ene

RBMY2VP Gene

RNA binding>gg> motif protein, Y-linked, family 2, member V pseudog>gg>ene

LOC100996476 Gene

uncharacterized protein FLJ39653 pseudog>gg>ene

LOC101927345 Gene

putative ankyrin repeat domain-containing>gg> protein 20A12 pseudog>gg>ene

Ag>Gg>AP11 Gene

ankyrin repeat and g>Gg>TPase domain Arf g>Gg>TPase activating>gg> protein 11

Predicted to enable g>Gg>TPase activator activity and g>Gg>TPase activity. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

AURKAIP1 Gene

aurora kinase A interacting>gg> protein 1

Acts upstream of or within positive reg>gg>ulation of proteolysis. Located in mitochondrial matrix and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PDE4DIP Gene

phosphodiesterase 4D interacting>gg> protein

The protein encoded by this g>gg>ene serves to anchor phosphodiesterase 4D to the g>Gg>olg>gg>i/centrosome reg>gg>ion of the cell. Defects in this g>gg>ene may be a cause of myeloproliferative disorder (MBD) associated with eosinophilia. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Aug>gg> 2010]

DDOST Gene

dolichyl-diphosphoolig>gg>osaccharide--protein g>gg>lycosyltransferase subunit (non-catalytic)

This g>gg>ene encodes a component of the olig>gg>osaccharyltransferase complex which catalyzes the transfer of hig>gg>h-mannose olig>gg>osaccharides to asparag>gg>ine residues on nascent polypeptides in the lumen of the roug>gg>h endoplasmic reticulum. The protein complex co-purifies with ribosomes. The product of this g>gg>ene is also implicated in the processing>gg> of advanced g>gg>lycation endproducts (Ag>Gg>Es), which form from non-enzymatic reactions between sug>gg>ars and proteins or lipids and are associated with ag>gg>ing>gg> and hyperg>gg>lycemia. [provided by RefSeq, Jul 2008]

LOC101929598 Gene

zinc fing>gg>er CCHC domain-containing>gg> protein 10 pseudog>gg>ene

LOC101929599 Gene

putative POM121-like protein 1-like

LOC646216 Gene

ribosomal protein S3A pseudog>gg>ene

LOC646214 Gene

p21 protein (Cdc42/Rac)-activated kinase 2 pseudog>gg>ene

FSCN1P1 Gene

fascin actin-bundling>gg> protein 1 pseudog>gg>ene 1

PHYHIPL Gene

phytanoyl-CoA 2-hydroxylase interacting>gg> protein-like

Located in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TAF1B Gene

TATA box binding>gg> protein (TBP)-associated factor, RNA polymerase I, B, 63kDa

Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding>gg> protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of ribosomal RNA g>gg>enes to position the polymerase properly and acts as a channel for reg>gg>ulatory sig>gg>nals. This g>gg>ene encodes one of the SL1-specific TAFs. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jan 2016]

OCSTAMP Gene

osteoclast stimulatory transmembrane protein

The protein encoded by this g>gg>ene is ortholog>gg>ous to the mouse osteoclast stimulatory transmembrane protein (OCSTAMP), which is a membrane-anchored cell surface g>receptorg> that promotes nucleation of osteoclasts. The mouse protein is also involved in bone resorption and osteoclast differentiation. [provided by RefSeq, Feb 2017]

TRE17 Gene

TRE17 protein

TAF1D Gene

TATA box binding>gg> protein (TBP)-associated factor, RNA polymerase I, D, 41kDa

TAF1D is a member of the SL1 complex, which includes TBP (MIM 600075) and TAF1A (MIM 604903), TAF1B (MIM 604904), and TAF1C (MIM 604905), and plays a role in RNA polymerase I transcription (Wang>gg> et al., 2004 [PubMed 15520167]; g>Gg>orski et al., 2007 [PubMed 17318177]).[supplied by OMIM, Jun 2009]

LOC645749 Gene

zinc fing>gg>er protein 131 pseudog>gg>ene

CRIPT Gene

cysteine-rich PDZ-binding>gg> protein

This g>gg>ene encodes a protein that binds to the PDZ3 peptide recog>gg>nition domain. The encoded protein may modulates protein interactions with the cytoskeleton. A mutation in this g>gg>ene resulted in short stature with microcephaly and distinctive facies. [provided by RefSeq, Jun 2014]

CRIP1 Gene

cysteine-rich protein 1 (intestinal)

Cysteine-rich intestinal protein (CRIP) belong>gg>s to the LIM/double zinc fing>gg>er protein family, members of which include cysteine- and g>gg>lycine-rich protein-1 (CSRP1; MIM 123876), rhombotin-1 (RBTN1; MIM 186921), rhombotin-2 (RBTN2; MIM 180385), and rhombotin-3 (RBTN3; MIM 180386). CRIP may be involved in intestinal zinc transport (Hempe and Cousins, 1991 [PubMed 1946385]).[supplied by OMIM, Mar 2008]

CRIP3 Gene

cysteine-rich protein 3

Predicted to enable metal ion binding>gg> activity. Predicted to act upstream of or within T cell proliferation. Predicted to be located in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CRIP2 Gene

cysteine-rich protein 2

This g>gg>ene encodes a putative transcription factor with two LIM zinc-binding>gg> domains. The encoded protein may participate in the differentiation of smooth muscle tissue. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Aug>gg> 2012]

SRPK2P Gene

SRSF protein kinase 2 pseudog>gg>ene

PLP1 Gene

proteolipid protein 1

This g>gg>ene encodes a transmembrane proteolipid protein that is the predominant component of myelin. The encoded protein may play a role in the compaction, stabilization, and maintenance of myelin sheaths, as well as in olig>gg>odendrocyte development and axonal survival. Mutations in this g>gg>ene cause Pelizaeus-Merzbacher disease and spastic parapleg>gg>ia type 2. Alternatively splicing>gg> results in multiple transcript variants, including>gg> the DM20 splice variant. [provided by RefSeq, Feb 2015]

PLP2 Gene

proteolipid protein 2 (colonic epithelium-enriched)

This g>gg>ene encodes an integ>gg>ral membrane protein that localizes to the endoplasmic reticulum in colonic epithelial cells. The encoded protein can multimerize and may function as an ion channel. A polymorphism in the promoter of this g>gg>ene may be linked to an increased risk of X-linked cog>gg>nitive disability. A pseudog>gg>ene of this g>gg>ene is found on chromosome 5. [provided by RefSeq, Jan 2010]

RALg>Gg>APA1P Gene

Ral g>Gg>TPase activating>gg> protein, alpha subunit 1 (catalytic) pseudog>gg>ene

TNFAIP8 Gene

tumor necrosis factor, alpha-induced protein 8

Enables cysteine-type endopeptidase inhibitor activity involved in apoptotic process. Involved in positive reg>gg>ulation of apoptotic process. Located in cytoplasm and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ACT Gene

actin-like protein (ACT) g>gg>ene

FABP12 Gene

fatty acid binding>gg> protein 12

Predicted to enable fatty acid binding>gg> activity. Predicted to be involved in fatty acid transport. Predicted to be active in cytosol and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL24P3 Gene

ribosomal protein L24 pseudog>gg>ene 3

RPL24P2 Gene

ribosomal protein L24 pseudog>gg>ene 2

RPL24P4 Gene

ribosomal protein L24 pseudog>gg>ene 4

LOC100419690 Gene

zinc fing>gg>er protein 114 pseudog>gg>ene

LOC100419691 Gene

zinc fing>gg>er protein 114 pseudog>gg>ene

LOC100419692 Gene

zinc fing>gg>er protein 791 pseudog>gg>ene

LOC100419693 Gene

zinc fing>gg>er protein 114 pseudog>gg>ene

RPL26P15 Gene

ribosomal protein L26 pseudog>gg>ene 15

LOC100419520 Gene

RAN binding>gg> protein 6 pseudog>gg>ene

LOC100419525 Gene

ribosomal protein S3A pseudog>gg>ene

FLJ21369 Gene

uncharacterized protein FLJ21369

LINC01158 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1158

Predicted to act upstream of or within reg>gg>ulation of g>gg>ene expression. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC01159 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1159

Predicted to act upstream of or within cerebellar cortex structural org>gg>anization; homeostasis of number of cells within a tissue; and reg>gg>ulation of g>gg>ene expression. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC01150 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1150

LOC100505502 Gene

putative UPF0607 protein FLJ37424

LINC01152 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1152

LINC01153 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1153

ZNF75CP Gene

zinc fing>gg>er protein 75C, pseudog>gg>ene

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100128144 Gene

ribosomal protein L32 pseudog>gg>ene

LINC00283 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 283

LINC00282 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 282

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105379261 Gene

g>gg>olg>gg>in subfamily A member 6-like protein 22

LINC00280 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 280

LINC00284 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 284

PCAT29 Gene

prostate cancer associated transcript 29 (non-protein coding>gg>)

This g>gg>ene is thoug>gg>ht to produce a functional long>gg> non-coding>gg> RNA. This transcript was identified in prostate cancer cells and may suppress tumor formation. [provided by RefSeq, Feb 2015]

LOC102724621 Gene

cell division cycle protein 27 homolog>gg> pseudog>gg>ene

DAB2IP Gene

DAB2 interacting>gg> protein

DAB2IP is a Ras (MIM 190020) g>Gg>TPase-activating>gg> protein (g>Gg>AP) that acts as a tumor suppressor. The DAB2IP g>gg>ene is inactivated by methylation in prostate and breast cancers (Yano et al., 2005 [PubMed 15386433]).[supplied by OMIM, May 2010]

LOC102724624 Gene

uncharacterized protein ENSP00000382042-like

LOC105379886 Gene

putative uncharacterized protein encoded by LINC00174

TTPA Gene

tocopherol (alpha) transfer protein

This g>gg>ene encodes a soluble protein that binds alpha-trocopherol, a form of vitamin E, with hig>gg>h selectivity and affinity. This protein plays an important role in reg>gg>ulating>gg> vitamin E levels in the body by transporting>gg> vitamin E between membrane vesicles and facilitating>gg> the secretion of vitamin E from hepatocytes to circulating>gg> lipoproteins. Mutations in this g>gg>ene cause hereditary vitamin E deficiency (ataxia with vitamin E deficiency, AVED) and retinitis pig>gg>mentosa. [provided by RefSeq, Nov 2009]

RPL3P7 Gene

ribosomal protein L3 pseudog>gg>ene 7

RPL3P6 Gene

ribosomal protein L3 pseudog>gg>ene 6

RPL3P3 Gene

ribosomal protein L3 pseudog>gg>ene 3

ZNF354A Gene

zinc fing>gg>er protein 354A

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Located in cytosol; nucleolus; and nucleoplasm. Biomarker of in situ carcinoma and seminoma. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF354C Gene

zinc fing>gg>er protein 354C

Enables DNA-binding>gg> transcription repressor activity, RNA polymerase II-specific. Involved in neg>gg>ative reg>gg>ulation of sprouting>gg> ang>gg>iog>gg>enesis. Located in cytoplasm; nuclear membrane; and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF354B Gene

zinc fing>gg>er protein 354B

Predicted to enable several functions, including>gg> DNA-binding>gg> transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity; and transcription corepressor activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to act upstream of or within neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC102723618 Gene

serine/arg>gg>inine repetitive matrix protein 1-like

MDM1 Gene

Mdm1 nuclear protein homolog>gg> (mouse)

This g>gg>ene encodes a microtubule-binding>gg> nuclear protein that localizes to the centrioles of dividing>gg> cells and differentiating>gg> multiciliated cells and neg>gg>atively reg>gg>ulates centriole duplication. The encoded protein is closely associated with the centriole barrel, and resides in the centriole lumen. Naturally-occurring>gg> mutations in the ortholog>gg>ous mouse g>gg>ene are associated with ag>gg>e-related retinal deg>gg>eneration. [provided by RefSeq, Feb 2019]

MDM2 Gene

MDM2 proto-oncog>gg>ene, E3 ubiquitin protein lig>gg>ase

This g>gg>ene encodes a nuclear-localized E3 ubiquitin lig>gg>ase. The encoded protein can promote tumor formation by targ>gg>eting>gg> tumor suppressor proteins, such as p53, for proteasomal deg>gg>radation. This g>gg>ene is itself transcriptionally-reg>gg>ulated by p53. Overexpression or amplification of this locus is detected in a variety of different cancers. There is a pseudog>gg>ene for this g>gg>ene on chromosome 2. Alternative splicing>gg> results in a multitude of transcript variants, many of which may be expressed only in tumor cells. [provided by RefSeq, Jun 2013]

LOC101928991 Gene

coiled-coil domain-containing>gg> protein 92-like

HCg>Gg>15 Gene

HLA complex g>gg>roup 15 (non-protein coding>gg>)

HCg>Gg>11 Gene

HLA complex g>gg>roup 11 (non-protein coding>gg>)

LOC644584 Gene

EWS RNA-binding>gg> protein 1 pseudog>gg>ene

RTN4IP1 Gene

reticulon 4 interacting>gg> protein 1

This g>gg>ene encodes a mitochondrial protein that interacts with reticulon 4, which is a potent inhibitor of reg>gg>eneration following>gg> spinal cord injury. This interaction may be important for reticulon-induced inhibition of neurite g>gg>rowth. Mutations in this g>gg>ene can cause optic atrophy 10, with or without ataxia, cog>gg>nitive disability, and seizures. There is a pseudog>gg>ene for this g>gg>ene on chromosome 12. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jan 2016]

LOC645181 Gene

PDg>Gg>FA associated protein 1 pseudog>gg>ene

LOC100420298 Gene

makorin ring>gg> fing>gg>er protein 1 pseudog>gg>ene

ZNF602P Gene

zinc fing>gg>er protein 602, pseudog>gg>ene

RPL21P38 Gene

ribosomal protein L21 pseudog>gg>ene 38

SHCBP1 Gene

SHC SH2-domain binding>gg> protein 1

Predicted to enable SH2 domain binding>gg> activity. Predicted to be involved in fibroblast g>gg>rowth factor g>receptorg> sig>gg>naling>gg> pathway and reg>gg>ulation of neural precursor cell proliferation. Predicted to be located in cytoplasm; midbody; and spindle. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>ABPA Gene

g>Gg>A binding>gg> protein transcription factor, alpha subunit 60kDa

This g>gg>ene encodes one of three g>Gg>A-binding>gg> protein transcription factor subunits which functions as a DNA-binding>gg> subunit. Since this subunit shares identity with a subunit encoding>gg> the nuclear respiratory factor 2 g>gg>ene, it is likely involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. This subunit also shares identity with a subunit constituting>gg> the transcription factor E4TF1, responsible for expression of the adenovirus E4 g>gg>ene. Because of its chromosomal localization and ability to form heterodimers with other polypeptides, this g>gg>ene may play a role in the Down Syndrome phenotype. Two transcript variants encoding>gg> the same protein have been found for this g>gg>ene. [provided by RefSeq, Oct 2010]

RPL22P20 Gene

ribosomal protein L22 pseudog>gg>ene 20

RPL22P21 Gene

ribosomal protein L22 pseudog>gg>ene 21

RPL22P22 Gene

ribosomal protein L22 pseudog>gg>ene 22

PAEP Gene

prog>gg>estag>gg>en-associated endometrial protein

This g>gg>ene is a member of the kernel lipocalin superfamily whose members share relatively low sequence similarity but have hig>gg>hly conserved exon/intron structure and three-dimensional protein folding>gg>. Most lipocalins are clustered on the long>gg> arm of chromosome 9. The encoded g>gg>lycoprotein has been previously referred to as preg>gg>nancy-associated endometrial alpha-2-g>gg>lobulin, placental protein 14, and g>gg>lycodelin, but has been officially named prog>gg>estag>gg>en-associated endometrial protein. Three distinct forms, with identical protein backbones but different g>gg>lycosylation profiles, are found in amniotic fluid, follicular fluid and seminal plasma of the reproductive system. These g>gg>lycoproteins have distinct and essential roles in reg>gg>ulating>gg> a uterine environment suitable for preg>gg>nancy and in the timing>gg> and occurrence of the appropriate sequence of events in the fertilization process. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Oct 2015]

ZNF90P2 Gene

zinc fing>gg>er protein 90 pseudog>gg>ene 2

ZNF90P3 Gene

zinc fing>gg>er protein 90 pseudog>gg>ene 3

ZNF90P1 Gene

zinc fing>gg>er protein 90 pseudog>gg>ene 1

RPL29P32 Gene

ribosomal protein L29 pseudog>gg>ene 32

RPL29P33 Gene

ribosomal protein L29 pseudog>gg>ene 33

RPL29P30 Gene

ribosomal protein L29 pseudog>gg>ene 30

RPL29P31 Gene

ribosomal protein L29 pseudog>gg>ene 31

PKN1 Gene

protein kinase N1

The protein encoded by this g>gg>ene belong>gg>s to the protein kinase C superfamily. This kinase is activated by Rho family of small g>Gg> proteins and may mediate the Rho-dependent sig>gg>naling>gg> pathway. This kinase can be activated by phospholipids and by limited proteolysis. The 3-phosphoinositide dependent protein kinase-1 (PDPK1/PDK1) is reported to phosphorylate this kinase, which may mediate insulin sig>gg>nals to the actin cytoskeleton. The proteolytic activation of this kinase by caspase-3 or related proteases during>gg> apoptosis sug>gg>g>gg>ests its role in sig>gg>nal transduction related to apoptosis. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

PKN3 Gene

protein kinase N3

Predicted to enable protein serine/threonine kinase activity. Involved in epithelial cell mig>gg>ration. Predicted to be located in g>Gg>olg>gg>i apparatus; cytosol; and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PKN2 Gene

protein kinase N2

Enables RNA polymerase binding>gg> activity; histone deacetylase binding>gg> activity; and protein serine/threonine kinase activity. Involved in several processes, including>gg> apical junction assembly; positive reg>gg>ulation of cell cycle; and positive reg>gg>ulation of viral g>gg>enome replication. Located in several cellular components, including>gg> cleavag>gg>e furrow; cytoskeleton; and midbody. Part of protein-containing>gg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

EHBP1L1 Gene

EH domain binding>gg> protein 1-like 1

Predicted to act upstream of or within several processes, including>gg> enucleation; erythrocyte differentiation; and mitochondrion localization. Located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100506747 Gene

alpha-1,3-mannosyl-g>gg>lycoprotein 4-beta-N-acetylg>gg>lucosaminyltransferase-like protein LOC641515 homolog>gg>

PCMTD1P3 Gene

protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing>gg> 1 pseudog>gg>ene 3

LOC388820 Gene

putative uncharacterized protein LOC388820

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF324B Gene

zinc fing>gg>er protein 324B

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM3 Gene

small integ>gg>ral membrane protein 3

Enables identical protein binding>gg> activity. Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM7 Gene

small integ>gg>ral membrane protein 7

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM6 Gene

small integ>gg>ral membrane protein 6

Predicted to act upstream of or within neg>gg>ative reg>gg>ulation of ATPase-coupled calcium transmembrane transporter activity. Predicted to be located in endoplasmic reticulum membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM5 Gene

small integ>gg>ral membrane protein 5

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM4 Gene

small integ>gg>ral membrane protein 4

Enables mitochondrial ribosome binding>gg> activity. Involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrion. Is active in mitochondrial inner membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM9 Gene

small integ>gg>ral membrane protein 9

Predicted to be located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM8 Gene

small integ>gg>ral membrane protein 8

Located in mitochondrion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ERP44 Gene

endoplasmic reticulum protein 44

This g>gg>ene encodes a member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. It has an inferred N-terminal sig>gg>nal peptide, a catalytically active thioredoxin (TRX) domain, two TRX-like domains and a C-terminal ER-retention sequence. This protein functions as a pH-reg>gg>ulated chaperone of the secretory pathway and likely plays a role in protein quality control at the endoplasmic reticulum - g>Gg>olg>gg>i interface. [provided by RefSeq, Dec 2016]

VPS26A Gene

vacuolar protein sorting>gg> 26 homolog>gg> A (S. pombe)

This g>gg>ene belong>gg>s to a g>gg>roup of vacuolar protein sorting>gg> (VPS) g>gg>enes. The encoded protein is a component of a larg>gg>e multimeric complex, termed the retromer complex, involved in retrog>gg>rade transport of proteins from endosomes to the trans-g>Gg>olg>gg>i network. The close structural similarity between the yeast and human proteins that make up this complex sug>gg>g>gg>ests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Jul 2008]

VPS26B Gene

vacuolar protein sorting>gg> 26 homolog>gg> B (S. pombe)

Predicted to be involved in intracellular protein transport and retrog>gg>rade transport, endosome to g>Gg>olg>gg>i. Predicted to act upstream of or within cellular response to type II interferon. Predicted to be located in early endosome and late endosome. Predicted to be part of retromer complex. Predicted to be active in g>gg>lutamaterg>gg>ic synapse; postsynaptic early endosome; and postsynaptic recycling>gg> endosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL7P45 Gene

ribosomal protein L7 pseudog>gg>ene 45

RPL7P46 Gene

ribosomal protein L7 pseudog>gg>ene 46

RPL7P47 Gene

ribosomal protein L7 pseudog>gg>ene 47

RPL7P40 Gene

ribosomal protein L7 pseudog>gg>ene 40

RPL7P41 Gene

ribosomal protein L7 pseudog>gg>ene 41

RPL7P42 Gene

ribosomal protein L7 pseudog>gg>ene 42

ZNF324 Gene

zinc fing>gg>er protein 324

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Acts upstream of or within with a positive effect on g>Gg>1/S transition of mitotic cell cycle and cell population proliferation. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL7P48 Gene

ribosomal protein L7 pseudog>gg>ene 48

RPL7P49 Gene

ribosomal protein L7 pseudog>gg>ene 49

ZNF320 Gene

zinc fing>gg>er protein 320

ZNF320 encodes a Kruppel-like zinc fing>gg>er protein. Members of this protein family are involved in activation or repression of transcription.[supplied by OMIM, Jul 2002]

RPL23AP48 Gene

ribosomal protein L23a pseudog>gg>ene 48

RPS10P19 Gene

ribosomal protein S10 pseudog>gg>ene 19

RPS10P18 Gene

ribosomal protein S10 pseudog>gg>ene 18

RPS10P15 Gene

ribosomal protein S10 pseudog>gg>ene 15

RPS10P14 Gene

ribosomal protein S10 pseudog>gg>ene 14

RPS10P17 Gene

ribosomal protein S10 pseudog>gg>ene 17

RPS10P16 Gene

ribosomal protein S10 pseudog>gg>ene 16

RPS10P11 Gene

ribosomal protein S10 pseudog>gg>ene 11

RPS10P10 Gene

ribosomal protein S10 pseudog>gg>ene 10

RPS10P13 Gene

ribosomal protein S10 pseudog>gg>ene 13

RPS10P12 Gene

ribosomal protein S10 pseudog>gg>ene 12

LOC100419774 Gene

zinc fing>gg>er protein 383 pseudog>gg>ene

ZNF451 Gene

zinc fing>gg>er protein 451

Enables SUMO lig>gg>ase activity; transcription corepressor activity; and transcription reg>gg>ulator inhibitor activity. Involved in neg>gg>ative reg>gg>ulation of transcription initiation by RNA polymerase II; neg>gg>ative reg>gg>ulation of transforming>gg> g>gg>rowth factor beta g>receptorg> sig>gg>naling>gg> pathway; and protein sumoylation. Located in PML body. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF454 Gene

zinc fing>gg>er protein 454

Enables sequence-specific double-stranded DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS7P13 Gene

ribosomal protein S7 pseudog>gg>ene 13

RPS7P14 Gene

ribosomal protein S7 pseudog>gg>ene 14

RPS7P15 Gene

ribosomal protein S7 pseudog>gg>ene 15

KCNIP4 Gene

Kv channel interacting>gg> protein 4

This g>gg>ene encodes a member of the family of voltag>gg>e-g>gg>ated potassium (Kv) channel-interacting>gg> proteins (KCNIPs), which belong>gg> to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding>gg> proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integ>gg>ral subunit components of native Kv4 channel complexes. They may reg>gg>ulate A-type currents, and hence neuronal excitability, in response to chang>gg>es in intracellular calcium. This protein member also interacts with presenilin. Multiple alternatively spliced transcript variants encoding>gg> distinct isoforms have been identified for this g>gg>ene. [provided by RefSeq, Jul 2008]

KCNIP3 Gene

Kv channel interacting>gg> protein 3, calsenilin

This g>gg>ene encodes a member of the family of voltag>gg>e-g>gg>ated potassium (Kv) channel-interacting>gg> proteins, which belong>gg> to the recoverin branch of the EF-hand superfamily. Members of this family are small calcium binding>gg> proteins containing>gg> EF-hand-like domains. They are integ>gg>ral subunit components of native Kv4 channel complexes that may reg>gg>ulate A-type currents, and hence neuronal excitability, in response to chang>gg>es in intracellular calcium. The encoded protein also functions as a calcium-reg>gg>ulated transcriptional repressor, and interacts with presenilins. Alternatively spliced transcript variants encoding>gg> different isoforms have been described. [provided by RefSeq, Jul 2008]

KCNIP2 Gene

Kv channel interacting>gg> protein 2

This g>gg>ene encodes a member of the family of voltag>gg>e-g>gg>ated potassium (Kv) channel-interacting>gg> proteins (KCNIPs), which belong>gg>s to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding>gg> proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integ>gg>ral subunit components of native Kv4 channel complexes. They may reg>gg>ulate A-type currents, and hence neuronal excitability, in response to chang>gg>es in intracellular calcium. Multiple alternatively spliced transcript variants encoding>gg> distinct isoforms have been identified from this g>gg>ene. [provided by RefSeq, Jul 2008]

KCNIP1 Gene

Kv channel interacting>gg> protein 1

This g>gg>ene encodes a member of the family of cytosolic voltag>gg>e-g>gg>ated potassium (Kv) channel-interacting>gg> proteins (KCNIPs), which belong>gg> to the neuronal calcium sensor (NCS) family of the calcium binding>gg> EF-hand proteins. They associate with Kv4 alpha subunits to form native Kv4 channel complexes. The encoded protein may reg>gg>ulate rapidly inactivating>gg> (A-type) currents, and hence neuronal membrane excitability, in response to chang>gg>es in the concentration of intracellular calcium. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, May 2013]

RPS6KA1 Gene

ribosomal protein S6 kinase, 90kDa, polypeptide 1

This g>gg>ene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 nonidentical kinase catalytic domains and phosphorylates various substrates, including>gg> members of the mitog>gg>en-activated kinase (MAPK) sig>gg>nalling>gg> pathway. The activity of this protein has been implicated in controlling>gg> cell g>gg>rowth and differentiation. Alternate transcriptional splice variants, encoding>gg> different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

RPS6KA2 Gene

ribosomal protein S6 kinase, 90kDa, polypeptide 2

This g>gg>ene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains two non-identical kinase catalytic domains and phosphorylates various substrates, including>gg> members of the mitog>gg>en-activated kinase (MAPK) sig>gg>nalling>gg> pathway. The activity of this protein has been implicated in controlling>gg> cell g>gg>rowth and differentiation. Alternative splice variants, encoding>gg> different isoforms, have been characterized. [provided by RefSeq, Jan 2016]

RPS6KA3 Gene

ribosomal protein S6 kinase, 90kDa, polypeptide 3

This g>gg>ene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including>gg> members of the mitog>gg>en-activated kinase (MAPK) sig>gg>nalling>gg> pathway. The activity of this protein has been implicated in controlling>gg> cell g>gg>rowth and differentiation. Mutations in this g>gg>ene have been associated with Coffin-Lowry syndrome (CLS). [provided by RefSeq, Jul 2008]

RPS6KA4 Gene

ribosomal protein S6 kinase, 90kDa, polypeptide 4

This g>gg>ene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including>gg> CREB1 and ATF1. The encoded protein can also phosphorylate histone H3 to reg>gg>ulate certain inflammatory g>gg>enes. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jan 2016]

RPS6KA5 Gene

ribosomal protein S6 kinase, 90kDa, polypeptide 5

Enables ATP binding>gg> activity and protein kinase activity. Involved in several processes, including>gg> interleukin-1-mediated sig>gg>naling>gg> pathway; protein modification process; and reg>gg>ulation of DNA-templated transcription. Located in cytoplasm and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS6KA6 Gene

ribosomal protein S6 kinase, 90kDa, polypeptide 6

This g>gg>ene encodes a member of ribosomal S6 kinase family, serine-threonine protein kinases which are reg>gg>ulated by g>gg>rowth factors. The encoded protein may be distinct from other members of this family, however, as studies sug>gg>g>gg>est it is not g>gg>rowth factor dependent and may not participate in the same sig>gg>naling>gg> pathways. [provided by RefSeq, Jan 2010]

KRTAP9-11P Gene

keratin associated protein 9-11, pseudog>gg>ene

ZWILCH Gene

zwilch kinetochore protein

Involved in mitotic spindle assembly checkpoint sig>gg>naling>gg> and protein localization to kinetochore. Located in kinetochore. Part of RZZ complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

Mg>Gg>C27345 Gene

uncharacterized protein Mg>Gg>C27345

LOC100130684 Gene

fibrous sheath-interacting>gg> protein 2-like

LOC100132659 Gene

sing>gg>le-stranded DNA binding>gg> protein 2 pseudog>gg>ene

LINC00678 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 678

LOC268276 Gene

musashi RNA-binding>gg> protein 1 pseudog>gg>ene

LINC00676 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 676

LINC00677 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 677

LINC00675 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 675

Involved in intrinsic apoptotic sig>gg>naling>gg> pathway in response to endoplasmic reticulum stress. Located in endoplasmic reticulum membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00672 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 672

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00673 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 673

This g>gg>ene produces a long>gg> non-protein coding>gg> RNA that is involved in the reg>gg>ulation of g>gg>ene expression during>gg> tumor prog>gg>ression. This transcript can promote cell proliferation in g>gg>astric cancer throug>gg>h interaction with enhancer of zeste 2 and other epig>gg>enetic suppressors of g>gg>ene expression, thereby downreg>gg>ulating>gg> targ>gg>et g>gg>enes including>gg> Kruppel like factors 2 and 4. This transcript may also act as a tumor suppressor by promoting>gg> interaction between protein tyrosine phosphatase, non-g>receptorg> type 11 (Ptpn11) and ubiquitin lig>gg>ase, resulting>gg> in deg>gg>radation of Ptpn11 and lowered oncog>gg>enic sig>gg>nalling>gg>. Naturally-occurring>gg> variation at this locus results in the formation of a binding>gg> site for miR-1231, which neg>gg>atively reg>gg>ulates activity of this transcript. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Dec 2017]

LINC00670 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 670

LINC00671 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 671

RPS3AP15 Gene

ribosomal protein S3a pseudog>gg>ene 15

RPS3AP17 Gene

ribosomal protein S3a pseudog>gg>ene 17

LINC00092 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 92

RPL7AP3 Gene

ribosomal protein L7a pseudog>gg>ene 3

RPL7AP2 Gene

ribosomal protein L7a pseudog>gg>ene 2

RPL7AP5 Gene

ribosomal protein L7a pseudog>gg>ene 5

RPL7AP4 Gene

ribosomal protein L7a pseudog>gg>ene 4

RPL7AP7 Gene

ribosomal protein L7a pseudog>gg>ene 7

RPL7AP6 Gene

ribosomal protein L7a pseudog>gg>ene 6

RPL7AP9 Gene

ribosomal protein L7a pseudog>gg>ene 9

RPL7AP8 Gene

ribosomal protein L7a pseudog>gg>ene 8

DZIP1L Gene

DAZ interacting>gg> zinc fing>gg>er protein 1-like

Predicted to enable metal ion binding>gg> activity. Involved in cilium assembly and reg>gg>ulation of protein localization. Located in centriole and ciliary basal body. Implicated in polycystic kidney disease 5. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PPP2R3B Gene

protein phosphatase 2, reg>gg>ulatory subunit B'', beta

Protein phosphatase 2 (formerly named type 2A) is one of the four major Ser/Thr phosphatases and is implicated in the neg>gg>ative control of cell g>gg>rowth and division. Protein phosphatase 2 holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a reg>gg>ulatory subunit B. The reg>gg>ulatory subunit is encoded by a diverse set of g>gg>enes that have been g>gg>rouped into the B/PR55, B'/PR61, and B''/PR72 families. These different reg>gg>ulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this g>gg>ene belong>gg>s to the B'' family. The B'' family has been further divided into subfamilies. The product of this g>gg>ene belong>gg>s to the beta subfamily of reg>gg>ulatory subunit B''. [provided by RefSeq, Apr 2010]

PPP2R3C Gene

protein phosphatase 2, reg>gg>ulatory subunit B'', g>gg>amma

This g>gg>ene encodes a reg>gg>ulatory subunit of the serine/threonine phosphatase, protein phosphatase 2. This protein is localized to both nuclear and cytoplasmic reg>gg>ions depending>gg> on cell cycle phase. Homozyg>gg>ous conditional knockout mice for this g>gg>ene exhibit reduced numbers and impaired proliferation of immune system B cells. This protein may reg>gg>ulate the expression of the P-g>gg>lycoprotein ATP-binding>gg> cassette transporter throug>gg>h its phosphatase activity. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Feb 2015]

LOC102723382 Gene

ankyrin repeat domain-containing>gg> protein 20B-like

PPP2R3A Gene

protein phosphatase 2, reg>gg>ulatory subunit B'', alpha

This g>gg>ene encodes one of the reg>gg>ulatory subunits of the protein phosphatase 2. Protein phosphatase 2 (formerly named type 2A) is one of the four major Ser/Thr phosphatases and is implicated in the neg>gg>ative control of cell g>gg>rowth and division. Protein phosphatase 2 holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a reg>gg>ulatory subunit B. The reg>gg>ulatory subunit is encoded by a diverse set of g>gg>enes that have been g>gg>rouped into the B/PR55, B'/PR61, and B''/PR72 families. These different reg>gg>ulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this g>gg>ene belong>gg>s to the B'' family. The B'' family has been further divided into subfamilies. The product of this g>gg>ene belong>gg>s to the alpha subfamily of reg>gg>ulatory subunit B''. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms.[provided by RefSeq, Jun 2010]

LOC100128334 Gene

g>gg>ap junction protein, g>gg>amma 3, 30.2kDa pseudog>gg>ene

LOC100420118 Gene

transmembrane protein 132C pseudog>gg>ene

ZPBP2 Gene

zona pellucida binding>gg> protein 2

Predicted to be involved in acrosome assembly and binding>gg> activity of sperm to zona pellucida. Predicted to act upstream of or within membrane lipid metabolic process and reg>gg>ulation of g>gg>ene expression. Located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RABg>Gg>AP1L Gene

RAB g>Gg>TPase activating>gg> protein 1-like

Enables g>Gg>TPase activator activity and small g>Gg>TPase binding>gg> activity. Acts upstream of or within reg>gg>ulation of protein localization. Located in several cellular components, including>gg> g>Gg>olg>gg>i apparatus; cilium; and early endosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CEP97 Gene

centrosomal protein 97kDa

Predicted to enable U2 snRNA binding>gg> activity and calmodulin binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of cilium assembly and reg>gg>ulation of mitotic spindle assembly. Located in centriole and centrosome. Part of protein-containing>gg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TTTY4C Gene

testis-specific transcript, Y-linked 4C (non-protein coding>gg>)

There are three copies of this g>gg>ene on chromosome Y. This record represents the most telomeric copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008]

TTTY4B Gene

testis-specific transcript, Y-linked 4B (non-protein coding>gg>)

There are three copies of this g>gg>ene on chromosome Y. This record represents the middle copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008]

TRAF3IP2 Gene

TRAF3 interacting>gg> protein 2

This g>gg>ene encodes a protein involved in reg>gg>ulating>gg> responses to cytokines by members of the Rel/NF-kappaB transcription factor family. These factors play a central role in innate immunity in response to pathog>gg>ens, inflammatory sig>gg>nals and stress. This g>gg>ene product interacts with TRAF proteins (tumor necrosis factor g>receptorg>-associated factors) and either I-kappaB kinase or MAP kinase to activate either NF-kappaB or Jun kinase. Several alternative transcripts encoding>gg> different isoforms have been identified. Another transcript, which does not encode a protein and is transcribed in the opposite orientation, has been identified. Overexpression of this transcript has been shown to reduce expression of at least one of the protein encoding>gg> transcripts, sug>gg>g>gg>esting>gg> it has a reg>gg>ulatory role in the expression of this g>gg>ene. [provided by RefSeq, Aug>gg> 2009]

LOC338963 Gene

epididymal protein pseudog>gg>ene

TMEM211 Gene

transmembrane protein 211

Predicted to be active in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM217 Gene

transmembrane protein 217

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM216 Gene

transmembrane protein 216

This locus encodes a transmembrane domain-containing>gg> protein. Mutations at this locus have been associated with Meckel-g>Gg>ruber Syndrome Type 2, and Joubert Syndrome 2, also known as Cerebello-oculorenal Syndrome 2. [provided by RefSeq, Aug>gg> 2010]

TMEM214 Gene

transmembrane protein 214

Predicted to be involved in apoptotic process. Located in several cellular components, including>gg> g>Gg>olg>gg>i apparatus; cytoplasmic microtubule; and endoplasmic reticulum. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM219 Gene

transmembrane protein 219

Predicted to be involved in apoptotic process. Predicted to be located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM218 Gene

transmembrane protein 218

Predicted to be located in cilium and membrane. Implicated in Joubert syndrome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC101929141 Gene

coiled-coil domain-containing>gg> protein 144B-like

BET1 Gene

Bet1 g>gg>olg>gg>i vesicular membrane trafficking>gg> protein

This g>gg>ene encodes a g>gg>olg>gg>i-associated membrane protein that participates in vesicular transport from the endoplasmic reticulum (ER) to the g>Gg>olg>gg>i complex. The encoded protein functions as a soluble N-ethylaleimide-sensitive factor attachment protein g>receptorg> and may be involved in the docking>gg> of ER-derived vesicles with the cis-g>Gg>olg>gg>i membrane. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Dec 2015]

FBXW7 Gene

F-box and WD repeat domain containing>gg> 7, E3 ubiquitin protein lig>gg>ase

This g>gg>ene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein lig>gg>ase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing>gg> WD-40 domains, Fbls containing>gg> leucine-rich repeats, and Fbxs containing>gg> either different protein-protein interaction modules or no recog>gg>nizable motifs. The protein encoded by this g>gg>ene was previously referred to as FBX30, and belong>gg>s to the Fbws class; in addition to an F-box, this protein contains 7 tandem WD40 repeats. This protein binds directly to cyclin E and probably targ>gg>ets cyclin E for ubiquitin-mediated deg>gg>radation. Mutations in this g>gg>ene are detected in ovarian and breast cancer cell lines, implicating>gg> the g>gg>ene's potential role in the pathog>gg>enesis of human cancers. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Mar 2012]

TJP2 Gene

tig>gg>ht junction protein 2

This g>gg>ene encodes a zonula occluden that is a member of the membrane-associated g>gg>uanylate kinase homolog>gg> family. The encoded protein functions as a component of the tig>gg>ht junction barrier in epithelial and endothelial cells and is necessary for proper assembly of tig>gg>ht junctions. Mutations in this g>gg>ene have been identified in patients with hypercholanemia, and g>gg>enomic duplication of a 270 kb reg>gg>ion including>gg> this g>gg>ene causes autosomal dominant deafness-51. Alternatively spliced transcripts encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Nov 2011]

TJP3 Gene

tig>gg>ht junction protein 3

The protein encoded by this g>gg>ene is a member of the membrane-associated g>gg>uanylate kinase-like (MAg>Gg>UK) protein family which is characterized by members having>gg> multiple PDZ domains, a sing>gg>le SH3 domain, and a sing>gg>le g>gg>uanylate kinase-like (g>Gg>UK)-domain. In addition, members of the zonula occludens protein subfamily have an acidic domain, a basic arg>gg>inine-rich reg>gg>ion, and a proline-rich domain. The protein encoded by this g>gg>ene plays a role in the linkag>gg>e between the actin cytoskeleton and tig>gg>ht-junctions and also sequesters cyclin D1 at tig>gg>ht junctions during>gg> mitosis. Alternative splicing>gg> results in multiple transcript variants encoding>gg> distinct isoforms. This g>gg>ene has a partial pseudog>gg>ene on chromosome 1. [provided by RefSeq, May 2012]

TJP1 Gene

tig>gg>ht junction protein 1

This g>gg>ene encodes a member of the membrane-associated g>gg>uanylate kinase (MAg>Gg>UK) family of proteins, and acts as a tig>gg>ht junction adaptor protein that also reg>gg>ulates adherens junctions. Tig>gg>ht junctions reg>gg>ulate the movement of ions and macromolecules between endothelial and epithelial cells. The multidomain structure of this scaffold protein, including>gg> a postsynaptic density 95/disc-larg>gg>e/zona occludens (PDZ) domain, a Src homolog>gg>y (SH3) domain, a g>gg>uanylate kinase (g>Gg>uK) domain and unique (U) motifs all help to co-ordinate binding>gg> of transmembrane proteins, cytosolic proteins, and F-actin, which are required for tig>gg>ht junction function. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Aug>gg> 2017]

RHPN2 Gene

rhophilin, Rho g>Gg>TPase binding>gg> protein 2

This g>gg>ene encodes a member of the rhophilin family of Ras-homolog>gg>ous (Rho)-g>Gg>TPase binding>gg> proteins. The encoded protein binds both g>Gg>TP- and g>Gg>DP-bound RhoA and g>Gg>TP-bound RhoB and may be involved in the org>gg>anization of the actin cytoskeleton. [provided by RefSeq, Apr 2009]

LINC01276 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1276

LINC00863 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 863

ZNF723P Gene

zinc fing>gg>er protein 723, pseudog>gg>ene

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00861 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 861

LINC00865 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 865

LINC00864 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 864

PHF2P2 Gene

PHD fing>gg>er protein 2 pseudog>gg>ene 2

Ig>Gg>F2BP3 Gene

insulin-like g>gg>rowth factor 2 mRNA binding>gg> protein 3

The protein encoded by this g>gg>ene is primarily found in the nucleolus, where it can bind to the 5' UTR of the insulin-like g>gg>rowth factor II leader 3 mRNA and may repress translation of insulin-like g>gg>rowth factor II during>gg> late development. The encoded protein contains several KH domains, which are important in RNA binding>gg> and are known to be involved in RNA synthesis and metabolism. A pseudog>gg>ene exists on chromosome 7, and there are putative pseudog>gg>enes on other chromosomes. [provided by RefSeq, Jul 2008]

PHF2P1 Gene

PHD fing>gg>er protein 2 pseudog>gg>ene 1

INIP Gene

INTS3 and NABP interacting>gg> protein

The protein encoded by this g>gg>ene is a subunit of sing>gg>le-stranded DNA binding>gg> complexes that are important for maintaining>gg> g>gg>enome stability. These complexes are involved in g>Gg>2/M checkpoint control and homolog>gg>ous recombination repair. [provided by RefSeq, Jul 2016]

PNKY Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA PNKY

TMEM78 Gene

transmembrane protein 78

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM79 Gene

transmembrane protein 79

Enables identical protein binding>gg> activity. Predicted to be involved in several processes, including>gg> epithelial cell maturation; establishment of skin barrier; and positive reg>gg>ulation of epidermis development. Predicted to act upstream of or within cornification; cuticle development; and hair follicle morphog>gg>enesis. Predicted to be located in g>Gg>olg>gg>i apparatus; lysosome; and membrane. Predicted to be active in lysosomal membrane and trans-g>Gg>olg>gg>i network membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM70 Gene

transmembrane protein 70

This g>gg>ene likely encodes a mitochondrial membrane protein. The encoded protein may play a role in biog>gg>enesis of mitochondrial ATP synthase. Mutations in this g>gg>ene have been associated with neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

TMEM71 Gene

transmembrane protein 71

Located in mitochondrion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM72 Gene

transmembrane protein 72

This g>gg>ene encodes a transmembrane protein which may be expressed specifically in the kidney. [provided by RefSeq, Sep 2016]

TMEM74 Gene

transmembrane protein 74

Predicted to enable transmembrane transporter binding>gg> activity. Involved in macroautophag>gg>y. Predicted to be located in cytoplasmic vesicle; plasma membrane; and vacuolar membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM75 Gene

transmembrane protein 75

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF611 Gene

zinc fing>gg>er protein 611

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF610 Gene

zinc fing>gg>er protein 610

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF613 Gene

zinc fing>gg>er protein 613

Predicted to enable DNA-binding>gg> transcription factor activity and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF615 Gene

zinc fing>gg>er protein 615

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF614 Gene

zinc fing>gg>er protein 614

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF616 Gene

zinc fing>gg>er protein 616

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF618 Gene

zinc fing>gg>er protein 618

Enables identical protein binding>gg> activity and transcription coreg>gg>ulator binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Located in pericentric heterochromatin. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS2P38 Gene

ribosomal protein S2 pseudog>gg>ene 38

EDDM3A Gene

epididymal protein 3A

Testicular sperm are morpholog>gg>ically differentiated but are not prog>gg>ressively motile nor able to fertilize an eg>gg>g>gg>. Post-testicular maturation requires exposure of spermatozoa to the microenvironment of the epididymal lumen. Spermatozoa underg>gg>o extensive chang>gg>es in the epididymis, including>gg> enzymatic modifications, loss of pre-existing>gg> components and addition of new g>gg>lycoproteins from epididymal secretions. These modifying>gg> proteins and enzymes are synthesized by epithelial cells lining>gg> the epididymal duct and secreted apically into the lumen, where they come into contact with, and may be absorbed onto, the sperm membranes. The proteins encoded by the g>gg>enes in this cluster are synthesized and secreted by epididymal epithelial cells. [provided by RefSeq, Jul 2008]

RPS2P30 Gene

ribosomal protein S2 pseudog>gg>ene 30

RPS2P33 Gene

ribosomal protein S2 pseudog>gg>ene 33

EDDM3B Gene

epididymal protein 3B

Testicular sperm are morpholog>gg>ically differentiated but are not prog>gg>ressively motile nor able to fertilize an eg>gg>g>gg>. Post-testicular maturation requires exposure of spermatozoa to the microenvironment of the epididymal lumen. Spermatozoa underg>gg>o extensive chang>gg>es in the epididymis, including>gg> enzymatic modifications, loss of pre-existing>gg> components and addition of new g>gg>lycoproteins from epididymal secretions. These modifying>gg> proteins and enzymes are synthesized by epithelial cells lining>gg> the epididymal duct and secreted apically into the lumen, where they come into contact with, and may be absorbed onto, the sperm membranes. The proteins encoded by the g>gg>enes in this cluster are synthesized and secreted by epididymal epithelial cells. [provided by RefSeq, Jul 2008]

RPS2P37 Gene

ribosomal protein S2 pseudog>gg>ene 37

RPS2P36 Gene

ribosomal protein S2 pseudog>gg>ene 36

RPL21P78 Gene

ribosomal protein L21 pseudog>gg>ene 78

RPL21P79 Gene

ribosomal protein L21 pseudog>gg>ene 79

RPL21P72 Gene

ribosomal protein L21 pseudog>gg>ene 72

RPL21P73 Gene

ribosomal protein L21 pseudog>gg>ene 73

RPL21P70 Gene

ribosomal protein L21 pseudog>gg>ene 70

RPL21P71 Gene

ribosomal protein L21 pseudog>gg>ene 71

RPL21P76 Gene

ribosomal protein L21 pseudog>gg>ene 76

RPL21P77 Gene

ribosomal protein L21 pseudog>gg>ene 77

RPL21P74 Gene

ribosomal protein L21 pseudog>gg>ene 74

RPL21P75 Gene

ribosomal protein L21 pseudog>gg>ene 75

CDY6P Gene

chromodomain protein, Y-linked 6 pseudog>gg>ene

LOC100419791 Gene

zinc fing>gg>er protein 449 pseudog>gg>ene

LOC100419790 Gene

zinc fing>gg>er protein 670 pseudog>gg>ene

LOC100419794 Gene

zinc fing>gg>er protein 449 pseudog>gg>ene

Mg>Gg>C2889 Gene

uncharacterized protein Mg>Gg>C2889

TRIM59-IFT80 Gene

TRIM59-IFT80 protein

This locus represents naturally occurring>gg> readthroug>gg>h transcription between the neig>gg>hboring>gg> TRIM59 (tripartite motif containing>gg> 59) and IFT80 (intraflag>gg>ellar transport 80) g>gg>enes on chromosome 3. The readthroug>gg>h transcript is unlikely to produce a protein product. [provided by RefSeq, Jun 2017]

LOC100422399 Gene

protein kinase, cAMP-dependent, reg>gg>ulatory, type II, beta pseudog>gg>ene

LOC100129682 Gene

ribosomal protein L17 pseudog>gg>ene

FSCN3 Gene

fascin actin-bundling>gg> protein 3, testicular

Predicted to enable actin filament binding>gg> activity. Predicted to be involved in actin filament bundle assembly; cell mig>gg>ration; and establishment or maintenance of cell polarity. Predicted to be located in cytoskeleton. Predicted to be active in several cellular components, including>gg> lamellipodium; microvillus; and ruffle. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FSCN2 Gene

fascin actin-bundling>gg> protein 2, retinal

This g>gg>ene encodes a member of the fascin protein family. Fascins crosslink actin into filamentous bundles within dynamic cell extensions. This family member is proposed to play a role in photog>receptorg> disk morphog>gg>enesis. A mutation in this g>gg>ene results in one form of autosomal dominant retinitis pig>gg>mentosa and macular deg>gg>eneration. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

FSCN1 Gene

fascin actin-bundling>gg> protein 1

This g>gg>ene encodes a member of the fascin family of actin-binding>gg> proteins. Fascin proteins org>gg>anize F-actin into parallel bundles, and are required for the formation of actin-based cellular protrusions. The encoded protein plays a critical role in cell mig>gg>ration, motility, adhesion and cellular interactions. Expression of this g>gg>ene is known to be reg>gg>ulated by several microRNAs, and overexpression of this g>gg>ene may play a role in the metastasis of multiple types of cancer by increasing>gg> cell motility. Expression of this g>gg>ene is also a marker for Reed-Sternberg>gg> cells in Hodg>gg>kin's lymphoma. A pseudog>gg>ene of this g>gg>ene is located on the long>gg> arm of chromosome 15. [provided by RefSeq, Sep 2011]

RPL17P11 Gene

ribosomal protein L17 pseudog>gg>ene 11

LOC101926946 Gene

adhesive plaque matrix protein-like

g>Gg>2E3 Gene

g>Gg>2/M-phase specific E3 ubiquitin protein lig>gg>ase

Predicted to enable ubiquitin protein lig>gg>ase activity. Predicted to be involved in apoptotic process and protein ubiquitination. Predicted to act upstream of or within blastocyst development; neg>gg>ative reg>gg>ulation of intrinsic apoptotic sig>gg>naling>gg> pathway; and protein polyubiquitination. Located in g>Gg>olg>gg>i apparatus and cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105373478 Gene

putative uncharacterized protein encoded by LINC00269

RPL17P10 Gene

ribosomal protein L17 pseudog>gg>ene 10

CAMK1D Gene

calcium/calmodulin-dependent protein kinase ID

This g>gg>ene is a member of the calcium/calmodulin-dependent protein kinase 1 family, a subfamily of the serine/threonine kinases. The encoded protein is a component of the calcium-reg>gg>ulated calmodulin-dependent protein kinase cascade. It has been associated with multiple processes including>gg> reg>gg>ulation of g>gg>ranulocyte function, activation of CREB-dependent g>gg>ene transcription, aldosterone synthesis, differentiation and activation of neutrophil cells, and apoptosis of erythroleukemia cells. Alternatively spliced transcript variants encoding>gg> different isoforms of this g>gg>ene have been described. [provided by RefSeq, Jan 2015]

HAPLN4 Gene

hyaluronan and proteog>gg>lycan link protein 4

Predicted to be a structural constituent of synapse-associated extracellular matrix. Predicted to be involved in several processes, including>gg> g>Gg>ABAerg>gg>ic synaptic transmission; nervous system development; and positive reg>gg>ulation of neuroblast proliferation. Predicted to be located in extracellular reg>gg>ion. Predicted to be active in extracellular space; perineuronal net; and synapse. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMCR2 Gene

Smith-Mag>gg>enis syndrome chromosome reg>gg>ion, candidate 2 (non-protein coding>gg>)

RPL17P13 Gene

ribosomal protein L17 pseudog>gg>ene 13

SMCR5 Gene

Smith-Mag>gg>enis syndrome chromosome reg>gg>ion, candidate 5 (non-protein coding>gg>)

SMCR6 Gene

Smith-Mag>gg>enis syndrome chromosome reg>gg>ion, candidate 6 (non-protein coding>gg>)

RPL17P12 Gene

ribosomal protein L17 pseudog>gg>ene 12

MAPK6PS4 Gene

mitog>gg>en-activated protein kinase 6 pseudog>gg>ene 4

MAPK6PS5 Gene

mitog>gg>en-activated protein kinase 6 pseudog>gg>ene 5

MAPK6PS2 Gene

mitog>gg>en-activated protein kinase 6 pseudog>gg>ene 2

MAPK6PS1 Gene

mitog>gg>en-activated protein kinase 6 pseudog>gg>ene 1

Mg>Gg>ARP Gene

mitochondria-localized g>gg>lutamic acid-rich protein

Predicted to be involved in several processes, including>gg> axonal transport; cellular response to g>gg>onadotropin-releasing>gg> hormone; and nervous system development. Located in mitochondrion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS25P6 Gene

ribosomal protein S25 pseudog>gg>ene 6

This g>gg>ene appears to be an intronless pseudog>gg>ene derived from the RPS25 g>gg>ene. It contains an open reading>gg> frame that could produce a protein of the same or nearly the same size as that of the RPS25 g>gg>ene, but there is no evidence for transcription of this locus so it is considered a pseudog>gg>ene. [provided by RefSeq, Jul 2008]

RPL21P119 Gene

ribosomal protein L21 pseudog>gg>ene 119

RPL21P113 Gene

ribosomal protein L21 pseudog>gg>ene 113

LOC100129307 Gene

putative UPF0607 protein ENSP00000383144

LOC102724364 Gene

vesicle-trafficking>gg> protein SEC22b-like

RPL21P115 Gene

ribosomal protein L21 pseudog>gg>ene 115

CDY22P Gene

chromodomain protein, Y-linked 22 pseudog>gg>ene

LOC100533637 Gene

zinc fing>gg>er protein 83 pseudog>gg>ene

LOC100533633 Gene

zinc fing>gg>er protein 257 pseudog>gg>ene

LOC100533632 Gene

zinc fing>gg>er protein 736 pseudog>gg>ene

ZNF518B Gene

zinc fing>gg>er protein 518B

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF518A Gene

zinc fing>gg>er protein 518A

The protein encoded by this g>gg>ene is a member of the krueppel C2H2-type zinc fing>gg>er protein family. The encoded protein contains five zinc fing>gg>ers and is likely a nuclear transcriptional reg>gg>ulator. Numerous transcript variants encoding>gg> two different isoforms have been found for this g>gg>ene. [provided by RefSeq, Aug>gg> 2016]

RPL7L1P12 Gene

ribosomal protein L7-like 1 pseudog>gg>ene 12

TACC1 Gene

transforming>gg>, acidic coiled-coil containing>gg> protein 1

This locus may represent a breast cancer candidate g>gg>ene. It is located close to Fg>Gg>FR1 on a reg>gg>ion of chromosome 8 that is amplified in some breast cancers. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jun 2017]

TACC2 Gene

transforming>gg>, acidic coiled-coil containing>gg> protein 2

Transforming>gg> acidic coiled-coil proteins are a conserved family of centrosome- and microtubule-interacting>gg> proteins that are implicated in cancer. This g>gg>ene encodes a protein that concentrates at centrosomes throug>gg>hout the cell cycle. This g>gg>ene lies within a chromosomal reg>gg>ion associated with tumorig>gg>enesis. Expression of this g>gg>ene is induced by erythropoietin and is thoug>gg>ht to affect the prog>gg>ression of breast tumors. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

TACC3 Gene

transforming>gg>, acidic coiled-coil containing>gg> protein 3

This g>gg>ene encodes a member of the transforming>gg> acidic colied-coil protein family. The encoded protein is a motor spindle protein that may play a role in stabilization of the mitotic spindle. This protein may also play a role in g>gg>rowth a differentiation of certain cancer cells. [provided by RefSeq, Nov 2011]

JDP2 Gene

Jun dimerization protein 2

Enables DNA-binding>gg> transcription repressor activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II. Part of RNA polymerase II transcription reg>gg>ulator complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL3L Gene

ribosomal protein L3-like

This g>gg>ene encodes a protein that shares sequence similarity with ribosomal protein L3. The protein belong>gg>s to the L3P family of ribosomal proteins. Unlike the ubiquitous expression of ribosomal protein g>gg>enes, this g>gg>ene has a tissue-specific pattern of expression, with the hig>gg>hest levels of expression in skeletal muscle and heart. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. [provided by RefSeq, Jul 2008]

DKFZP564M1462 Gene

DKFZP564M1462 protein

g>Gg>NAT3 Gene

g>gg>uanine nucleotide binding>gg> protein, alpha transducing>gg> 3

Sweet, bitter, and umami tastes are transmitted from taste g>receptorg>s by a specific g>gg>uanine nucleotide binding>gg> protein. The protein encoded by this g>gg>ene is the alpha subunit of this heterotrimeric g>Gg> protein, which is found not only in the oral epithelium but also in g>gg>ut tissues. Variations in this g>gg>ene have been linked to metabolic syndrome. [provided by RefSeq, Dec 2015]

ZNF556 Gene

zinc fing>gg>er protein 556

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF557 Gene

zinc fing>gg>er protein 557

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF554 Gene

zinc fing>gg>er protein 554

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Located in nucleolus and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF555 Gene

zinc fing>gg>er protein 555

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF552 Gene

zinc fing>gg>er protein 552

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF550 Gene

zinc fing>gg>er protein 550

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF551 Gene

zinc fing>gg>er protein 551

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF558 Gene

zinc fing>gg>er protein 558

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF559 Gene

zinc fing>gg>er protein 559

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC01460 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1460

LINC01461 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1461

LINC01465 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1465

LINC01467 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1467

DKFZP586B0319 Gene

DKFZP586B0319 protein

RPL26L1 Gene

ribosomal protein L26-like 1

This g>gg>ene encodes a protein that shares hig>gg>h sequence similarity with ribosomal protein L26. Alternative splicing>gg> results in multiple transcript variants encoding>gg> the same protein. [provided by RefSeq, Dec 2015]

RPL38 Gene

ribosomal protein L38

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 60S subunit. The protein belong>gg>s to the L38E family of ribosomal proteins. It is located in the cytoplasm. Alternative splice variants have been identified, both encoding>gg> the same protein. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome, including>gg> one located in the promoter reg>gg>ion of the type 1 ang>gg>iotensin II g>receptorg> g>gg>ene. [provided by RefSeq, Jul 2008]

RPL39 Gene

ribosomal protein L39

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 60S subunit. The protein belong>gg>s to the S39E family of ribosomal proteins. It is located in the cytoplasm. In rat, the protein is the smallest, and one of the most basic, proteins of the ribosome. This g>gg>ene is co-transcribed with the U69 small nucleolar RNA g>gg>ene, which is located in its second intron. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

RPL36 Gene

ribosomal protein L36

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 60S subunit. The protein belong>gg>s to the L36E family of ribosomal proteins. It is located in the cytoplasm. Transcript variants derived from alternative splicing>gg> exist; they encode the same protein. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

RPL34 Gene

ribosomal protein L34

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 60S subunit. The protein belong>gg>s to the L34E family of ribosomal proteins. It is located in the cytoplasm. This g>gg>ene orig>gg>inally was thoug>gg>ht to be located at 17q21, but it has been mapped to 4q. Overexpression of this g>gg>ene has been observed in some cancer cells. Alternative splicing>gg> results in multiple transcript variants, all encoding>gg> the same isoform. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Feb 2016]

RPL35 Gene

ribosomal protein L35

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 60S subunit. The protein belong>gg>s to the L29P family of ribosomal proteins. It is located in the cytoplasm. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

RPL32 Gene

ribosomal protein L32

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 60S subunit. The protein belong>gg>s to the L32E family of ribosomal proteins. It is located in the cytoplasm. Althoug>gg>h some studies have mapped this g>gg>ene to 3q13.3-q21, it is believed to map to 3p25-p24. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. Alternatively spliced transcript variants encoding>gg> the same protein have been observed for this g>gg>ene. [provided by RefSeq, Jul 2008]

RPL30 Gene

ribosomal protein L30

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 60S subunit. The protein belong>gg>s to the L30E family of ribosomal proteins. It is located in the cytoplasm. This g>gg>ene is co-transcribed with the U72 small nucleolar RNA g>gg>ene, which is located in its fourth intron. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

CTTNBP2 Gene

cortactin binding>gg> protein 2

This g>gg>ene encodes a protein with six ankyrin repeats and several proline-rich reg>gg>ions. A similar g>gg>ene in rat interacts with a central reg>gg>ulator of the actin cytoskeleton. [provided by RefSeq, Jul 2008]

LOC121296 Gene

transmembrane protein 132B pseudog>gg>ene

CTNNAL1 Gene

catenin (cadherin-associated protein), alpha-like 1

Predicted to enable actin filament binding>gg> activity and cadherin binding>gg> activity. Acts upstream of or within Rho protein sig>gg>nal transduction. Located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

IFIT6P Gene

interferon-induced protein with tetratricopeptide repeats 6, pseudog>gg>ene

NKg>Gg>7 Gene

natural killer cell g>gg>ranule protein 7

Involved in defense response to protozoan. Located in cytolytic g>gg>ranule membrane and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ERP29P1 Gene

endoplasmic reticulum lumenal protein 29 pseudog>gg>ene 1

INA Gene

internexin neuronal intermediate filament protein, alpha

Neurofilaments are type IV intermediate filament heteropolymers composed of lig>gg>ht, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This g>gg>ene is a member of the intermediate filament family and is involved in the morphog>gg>enesis of neurons. [provided by RefSeq, Jun 2009]

RPL23A Gene

ribosomal protein L23a

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 60S subunit. The protein belong>gg>s to the L23P family of ribosomal proteins. It is located in the cytoplasm. The protein may be one of the targ>gg>et molecules involved in mediating>gg> g>gg>rowth inhibition by interferon. In yeast, the corresponding>gg> protein binds to a specific site on the 26S rRNA. This g>gg>ene is co-transcribed with the U42A, U42B, U101A, and U101B small nucleolar RNA g>gg>enes, which are located in its third, first, second, and fourth introns, respectively. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

BSN Gene

bassoon presynaptic cytomatrix protein

Neurotransmitters are released from a specific site in the axon terminal called the active zone, which is composed of synaptic vesicles and a meshwork of cytoskeleton underlying>gg> the plasma membrane. The protein encoded by this g>gg>ene is thoug>gg>ht to be a scaffolding>gg> protein involved in org>gg>anizing>gg> the presynaptic cytoskeleton. The g>gg>ene is expressed primarily in neurons in the brain. A similar g>gg>ene product in rodents is concentrated in the active zone of axon terminals and tig>gg>htly associated with cytoskeletal structures, and is essential for reg>gg>ulating>gg> neurotransmitter release from a subset of synapses. [provided by RefSeq, Jul 2008]

LINC00924 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 924

ZNF209P Gene

zinc fing>gg>er protein 209, pseudog>gg>ene

PPT2 Gene

palmitoyl-protein thioesterase 2

This g>gg>ene encodes a member of the palmitoyl-protein thioesterase family. The encoded g>gg>lycosylated lysosomal protein has palmitoyl-CoA hydrolase activity in vitro, but does not hydrolyze palmitate from cysteine residues in proteins. Alternative splicing>gg> results in multiple transcript variants. Read-throug>gg>h transcription also exists between this g>gg>ene and the downstream Eg>Gg>FL8 (Eg>Gg>F-like-domain, multiple 8) g>gg>ene. [provided by RefSeq, Feb 2011]

LOC100131832 Gene

ZFP91 zinc fing>gg>er protein pseudog>gg>ene

NCKAP1L Gene

NCK-associated protein 1-like

This g>gg>ene encodes a member of the HEM family of tissue-specific transmembrane proteins which are hig>gg>hly conserved from invertebrates throug>gg>h mammals. This g>gg>ene is only expressed in hematopoietic cells. The encoded protein is a part of the Scar/WAVE complex which plays an important role in reg>gg>ulating>gg> cell shape in both metazoans and plants. Alternatively spliced transcript variants encoding>gg> different isoforms have been found.[provided by RefSeq, May 2010]

WRNIP1 Gene

Werner helicase interacting>gg> protein 1

Werner's syndrome is a rare autosomal recessive disorder characterized by accelerated ag>gg>ing>gg> that is caused by defects in the Werner syndrome ATP-dependent helicase g>gg>ene (WRN). The protein encoded by this g>gg>ene interacts with the exonuclease-containing>gg> N-terminal portion of the Werner protein. This protein has a ubiquitin-binding>gg> zinc-fing>gg>er domain in the N-terminus, an ATPase domain, and two leucine zipper motifs in the C-terminus. It has sequence similarity to replication factor C family proteins and is conserved from E. coli to human. This protein likely accumulates at sites of DNA damag>gg>e by interacting>gg> with polyubiquinated proteins and also binds to DNA polymerase delta and increases the initiation frequency of DNA polymerase delta-mediated DNA synthesis. This protein also interacts with nucleoporins at nuclear pore complexes. Two transcript variants encoding>gg> different isoforms have been isolated for this g>gg>ene. [provided by RefSeq, Jul 2012]

LINC00485 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 485

PARM1 Gene

prostate androg>gg>en-reg>gg>ulated mucin-like protein 1

Located in several cellular components, including>gg> g>Gg>olg>gg>i apparatus; endosome; and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105376919 Gene

nucleolar protein 58-like

LOC105376911 Gene

putative uncharacterized protein encoded by LINC00269

SFTPD Gene

surfactant protein D

The protein encoded by this g>gg>ene is part of the innate immune response, protecting>gg> the lung>gg>s ag>gg>ainst inhaled microorg>gg>anisms and chemicals. The encoded protein may also be involved in surfactant metabolism. [provided by RefSeq, Jul 2015]

SFTPB Gene

surfactant protein B

This g>gg>ene encodes the pulmonary-associated surfactant protein B (SPB), an amphipathic surfactant protein essential for lung>gg> function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung>gg> and maintains the stability of pulmonary tissue by reducing>gg> the surface tension of fluids that coat the lung>gg>. The SPB enhances the rate of spreading>gg> and increases the stability of surfactant monolayers in vitro. Multiple mutations in this g>gg>ene have been identified, which cause pulmonary surfactant metabolism dysfunction type 1, also called pulmonary alveolar proteinosis due to surfactant protein B deficiency, and are associated with fatal respiratory distress in the neonatal period. Alternatively spliced transcript variants encoding>gg> the same protein have been identified.[provided by RefSeq, Feb 2010]

SFTPC Gene

surfactant protein C

This g>gg>ene encodes the pulmonary-associated surfactant protein C (SPC), an extremely hydrophobic surfactant protein essential for lung>gg> function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung>gg> and maintains the stability of pulmonary tissue by reducing>gg> the surface tension of fluids that coat the lung>gg>. Multiple mutations in this g>gg>ene have been identified, which cause pulmonary surfactant metabolism dysfunction type 2, also called pulmonary alveolar proteinosis due to surfactant protein C deficiency, and are associated with interstitial lung>gg> disease in older infants, children, and adults. Alternatively spliced transcript variants encoding>gg> different protein isoforms have been identified.[provided by RefSeq, Feb 2010]

DNTTIP1 Gene

deoxynucleotidyltransferase, terminal, interacting>gg> protein 1

DNTTIP1 binds DNA and enhances the activity of terminal deoxynucleotidyltransferase (TDT, or DNTT; MIM 187410), a DNA polymerase that catalyzes the polymerization of DNA in the absence of a DNA template (Yamashita et al., 2001 [PubMed 11473582]).[supplied by OMIM, Mar 2008]

DNTTIP2 Gene

deoxynucleotidyltransferase, terminal, interacting>gg> protein 2

This g>gg>ene is thoug>gg>ht to be involved in chromatin remodeling>gg> and g>gg>ene transcription. The encoded nuclear protein binds to and enhances the transcriptional activity of the estrog>gg>en g>receptorg> alpha, and also interacts with terminal deoxynucleotidyltransferase. The expression profile of this g>gg>ene is a potential biomarker for chronic obstructive pulmonary disease. [provided by RefSeq, Dec 2010]

LOC729532 Gene

zinc fing>gg>er protein 207 pseudog>gg>ene

CD2BP2 Gene

CD2 (cytoplasmic tail) binding>gg> protein 2

This g>gg>ene encodes a bi-functional protein. In the cytoplasm, the encoded protein binds the cytoplasmic tail of human surface antig>gg>en CD2 via its C-terminal g>Gg>YF domain, and reg>gg>ulate CD2-trig>gg>g>gg>ered T lymphocyte activation. In the nucleus, this protein is a component of the U5 small nuclear ribonucleoprotein complex and is involved in RNA splicing>gg>. A pseudog>gg>ene has been identified on chromosome 7. Alternative splicing>gg> results in multiple transcript variants but their biolog>gg>ical validity has not been determined. [provided by RefSeq, Nov 2008]

RPL5P10 Gene

ribosomal protein L5 pseudog>gg>ene 10

BNIP3P40 Gene

BCL2/adenovirus E1B 19kDa interacting>gg> protein 3 pseudog>gg>ene 40

BNIP3P41 Gene

BCL2/adenovirus E1B 19kDa interacting>gg> protein 3 pseudog>gg>ene 41

RPL5P13 Gene

ribosomal protein L5 pseudog>gg>ene 13

HSBP1L1 Gene

heat shock factor binding>gg> protein 1-like 1

Predicted to enable transcription corepressor activity. Predicted to be involved in cellular heat acclimation. Predicted to be active in cytosol and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS6P22 Gene

ribosomal protein S6 pseudog>gg>ene 22

RPS6P23 Gene

ribosomal protein S6 pseudog>gg>ene 23

RPS6P20 Gene

ribosomal protein S6 pseudog>gg>ene 20

RPS6P21 Gene

ribosomal protein S6 pseudog>gg>ene 21

RPS6P26 Gene

ribosomal protein S6 pseudog>gg>ene 26

RPS6P24 Gene

ribosomal protein S6 pseudog>gg>ene 24

RPS6P25 Gene

ribosomal protein S6 pseudog>gg>ene 25

KNSTRN Gene

kinetochore-localized astrin/SPAg>Gg>5 binding>gg> protein

Enables microtubule plus-end binding>gg> activity and protein homodimerization activity. Involved in several processes, including>gg> cellular response to epidermal g>gg>rowth factor stimulus; mitotic sister chromatid seg>gg>reg>gg>ation; and reg>gg>ulation of attachment of spindle microtubules to kinetochore. Located in several cellular components, including>gg> kinetochore; microtubule cytoskeleton; and ruffle. Implicated in actinic keratosis and skin squamous cell carcinoma. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPSAP18 Gene

ribosomal protein SA pseudog>gg>ene 18

RPSAP19 Gene

ribosomal protein SA pseudog>gg>ene 19

RPSAP16 Gene

ribosomal protein SA pseudog>gg>ene 16

RPSAP14 Gene

ribosomal protein SA pseudog>gg>ene 14

RPSAP15 Gene

ribosomal protein SA pseudog>gg>ene 15

RPSAP12 Gene

ribosomal protein SA pseudog>gg>ene 12

RPSAP13 Gene

ribosomal protein SA pseudog>gg>ene 13

RPSAP10 Gene

ribosomal protein SA pseudog>gg>ene 10

LOC100421292 Gene

cAMP responsive element binding>gg> protein 1 pseudog>gg>ene

LOC105369209 Gene

putative uncharacterized protein FLJ44790

LOC100419616 Gene

impact RWD domain protein pseudog>gg>ene

MRPS18CP2 Gene

mitochondrial ribosomal protein S18C pseudog>gg>ene 2

LOC100132418 Gene

Uncharacterized PRO1102-like protein LOC100132418

ZNF790 Gene

zinc fing>gg>er protein 790

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF791 Gene

zinc fing>gg>er protein 791

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF792 Gene

zinc fing>gg>er protein 792

Enables identical protein binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF793 Gene

zinc fing>gg>er protein 793

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. Implicated in Barrett's esophag>gg>us. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF799 Gene

zinc fing>gg>er protein 799

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PPP1R8 Gene

protein phosphatase 1, reg>gg>ulatory subunit 8

This g>gg>ene, throug>gg>h alternative splicing>gg>, encodes three different isoforms. Two of the protein isoforms encoded by this g>gg>ene are specific inhibitors of type 1 serine/threonine protein phosphatases and can bind but not cleave RNA. The third protein isoform lacks the phosphatase inhibitory function but is a sing>gg>le-strand endoribonuclease comparable to RNase E of E. coli. This isoform requires mag>gg>nesium for its function and cleaves specific sites in A+U-rich reg>gg>ions of RNA. [provided by RefSeq, Jul 2008]

LOC102724447 Gene

protein capicua homolog>gg> pseudog>gg>ene

SAV1 Gene

salvador family WW domain containing>gg> protein 1

WW domain-containing>gg> proteins are found in all eukaryotes and play an important role in the reg>gg>ulation of a wide variety of cellular functions such as protein deg>gg>radation, transcription, and RNA splicing>gg>. This g>gg>ene encodes a protein with two WW domains, a SARAH domain, and a coiled-coil reg>gg>ion and is ubiquitously expressed in adult tissues. This protein binds to MST1 (mammalian sterile 20-like kinase 1) and promotes MST1-induced apoptosis. It has also been shown to bind to HAX1 (hematopoietic cell-specific protein 1 (HS1)-associated protein X-1) and to attenuate the anti-apoptotic effects of HAX1. Studies in human and mouse sug>gg>g>gg>est this g>gg>ene acts as a tumor suppressor. [provided by RefSeq, Aug>gg> 2012]

LOC101928675 Gene

putative uncharacterized protein FLJ44672

RPS7P11 Gene

ribosomal protein S7 pseudog>gg>ene 11

RPL30P13 Gene

ribosomal protein L30 pseudog>gg>ene 13

LINC00208 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 208

LINC01450 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1450

RPS7P12 Gene

ribosomal protein S7 pseudog>gg>ene 12

IRAIN Gene

Ig>Gg>F1R antisense imprinted non-protein coding>gg> RNA

This g>gg>ene expresses a long>gg> non-coding>gg> RNA in antisense to the insulin-like g>gg>rowth factor type I g>receptorg> (Ig>Gg>F1R) g>gg>ene. This transcript is imprinted and expressed from the paternal allele. It interacts with chromatin and may promote long>gg>-rang>gg>e DNA interactions that influence the reg>gg>ulation of g>gg>ene expression. [provided by RefSeq, Nov 2015]

RPLP0P9 Gene

ribosomal protein, larg>gg>e, P0 pseudog>gg>ene

RPLP0P8 Gene

ribosomal protein, larg>gg>e, P0 pseudog>gg>ene 8

RPLP0P1 Gene

ribosomal protein, larg>gg>e, P0 pseudog>gg>ene 1

RPLP0P3 Gene

ribosomal protein, larg>gg>e, P0 pseudog>gg>ene 3

RPLP0P2 Gene

ribosomal protein, larg>gg>e, P0 pseudog>gg>ene 2

RPLP0P5 Gene

ribosomal protein, larg>gg>e, P0 pseudog>gg>ene 5

RPLP0P4 Gene

ribosomal protein, larg>gg>e, P0 pseudog>gg>ene 4

RPLP0P7 Gene

ribosomal protein, larg>gg>e, P0 pseudog>gg>ene 7

RPLP0P6 Gene

ribosomal protein, larg>gg>e, P0 pseudog>gg>ene 6

Predicted to enable larg>gg>e ribosomal subunit rRNA binding>gg> activity. Predicted to be a structural constituent of ribosome. Predicted to be involved in cytoplasmic translation. Predicted to be located in ribosome. Predicted to be part of cytosolic larg>gg>e ribosomal subunit. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL7AP46 Gene

ribosomal protein L7a pseudog>gg>ene 46

RPS11P1 Gene

ribosomal protein S11 pseudog>gg>ene 1

RPS11P2 Gene

ribosomal protein S11 pseudog>gg>ene 2

RPS11P3 Gene

ribosomal protein S11 pseudog>gg>ene 3

RPS11P4 Gene

ribosomal protein S11 pseudog>gg>ene 4

RPS11P5 Gene

ribosomal protein S11 pseudog>gg>ene 5

RPS11P6 Gene

ribosomal protein S11 pseudog>gg>ene 6

RPS11P7 Gene

ribosomal protein S11 pseudog>gg>ene 7

LINC00974 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 974

LINC00977 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 977

LINC00971 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 971

LINC00970 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 970

LINC00973 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 973

LINC00972 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 972

KRTAP4-11 Gene

keratin associated protein 4-11

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal reg>gg>ions and are subdivided into three multi-g>gg>ene families according>gg> to amino acid composition: the hig>gg>h sulfur, the ultrahig>gg>h sulfur, and the hig>gg>h tyrosine/g>gg>lycine KAPs. This protein is a member of the ultrahig>gg>h sulfur KAP family and the g>gg>ene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Mar 2009]

LOC100653133 Gene

g>gg>olg>gg>in subfamily A member 6-like protein 1

KRTAP4-12 Gene

keratin associated protein 4-12

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal reg>gg>ions and are subdivided into three multi-g>gg>ene families according>gg> to amino acid composition: the hig>gg>h sulfur, the ultrahig>gg>h sulfur, and the hig>gg>h tyrosine/g>gg>lycine KAPs. This protein is a member of the ultrahig>gg>h sulfur KAP family and the g>gg>ene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

HSPA8P9 Gene

heat shock 70kDa protein 8 pseudog>gg>ene 9

LOC100129118 Gene

transmembrane protein 167A pseudog>gg>ene

HSPA8P5 Gene

heat shock 70kDa protein 8 pseudog>gg>ene 5

LOC100419935 Gene

tumor protein D52-like 2 pseudog>gg>ene

HSPA8P4 Gene

heat shock 70kDa protein 8 pseudog>gg>ene 4

SYCE2 Gene

synaptonemal complex central element protein 2

The protein encoded by this g>gg>ene is part of the synaptonemal complex formed between homolog>gg>ous chromosomes during>gg> meiotic prophase. The encoded protein associates with SYCP1 and SYCE1 and is found only where chromosome cores are synapsed. [provided by RefSeq, Dec 2012]

BRINP3 Gene

bone morphog>gg>enetic protein/retinoic acid inducible neural-specific 3

This g>gg>ene is overexpressed in pituitary tumors but is underexpressed in tong>gg>ue squamous cell carcinomas, ulcerative colitis, and peri-implantitis. Polymorphisms that increase expression of this g>gg>ene have been shown to increase vascular inflammation, and an association of this g>gg>ene with myocardial infarction has been demonstrated. Finally, hypermethylation of this g>gg>ene may find usefulness as a biomarker for g>gg>astric cancer. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Nov 2015]

BRINP2 Gene

bone morphog>gg>enetic protein/retinoic acid inducible neural-specific 2

Predicted to be involved in cellular response to retinoic acid; central nervous system neuron differentiation; and neg>gg>ative reg>gg>ulation of mitotic cell cycle. Predicted to act upstream of or within locomotion and nervous system development. Predicted to be located in extracellular reg>gg>ion. Predicted to be active in cytoplasm; dendrite; and neuronal cell body. Implicated in oral squamous cell carcinoma. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

BRINP1 Gene

bone morphog>gg>enetic protein/retinoic acid inducible neural-specific 1

This g>gg>ene is located within a chromosomal reg>gg>ion that shows loss of heterozyg>gg>osity in some bladder cancers. It contains a 5' Cpg>Gg> island that may be a frequent targ>gg>et of hypermethylation, and it may underg>gg>o hypermethylation-based silencing>gg> in some bladder cancers. [provided by RefSeq, Jul 2008]

LOC101928587 Gene

putative uncharacterized protein FLJ44672

SPRR1A Gene

small proline-rich protein 1A

A structural constituent of skin epidermis. Involved in keratinocyte differentiation and peptide cross-linking>gg>. Located in cornified envelope. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SPRR1B Gene

small proline-rich protein 1B

The protein encoded by this g>gg>ene is an envelope protein of keratinocytes. The encoded protein is crosslinked to membrane proteins by transg>gg>lutaminase, forming>gg> an insoluble layer under the plasma membrane. This protein is proline-rich and contains several tandem amino acid repeats. [provided by RefSeq, Nov 2015]

TNFAIP6 Gene

tumor necrosis factor, alpha-induced protein 6

The protein encoded by this g>gg>ene is a secretory protein that contains a hyaluronan-binding>gg> domain, and thus is a member of the hyaluronan-binding>gg> protein family. The hyaluronan-binding>gg> domain is known to be involved in extracellular matrix stability and cell mig>gg>ration. This protein has been shown to form a stable complex with inter-alpha-inhibitor (I alpha I), and thus enhance the serine protease inhibitory activity of I alpha I, which is important in the protease network associated with inflammation. This g>gg>ene can be induced by proinflammatory cytokines such as tumor necrosis factor alpha and interleukin-1. Enhanced levels of this protein are found in the synovial fluid of patients with osteoarthritis and rheumatoid arthritis.[provided by RefSeq, Dec 2010]

TNFAIP1 Gene

tumor necrosis factor, alpha-induced protein 1 (endothelial)

This g>gg>ene was identified as a g>gg>ene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial cells. Studies of a similar g>gg>ene in mouse sug>gg>g>gg>est that the expression of this g>gg>ene is developmentally reg>gg>ulated in a tissue-specific manner. [provided by RefSeq, Jul 2008]

TNFAIP3 Gene

tumor necrosis factor, alpha-induced protein 3

This g>gg>ene was identified as a g>gg>ene whose expression is rapidly induced by the tumor necrosis factor (TNF). The protein encoded by this g>gg>ene is a zinc fing>gg>er protein and ubiqitin-editing>gg> enzyme, and has been shown to inhibit NF-kappa B activation as well as TNF-mediated apoptosis. The encoded protein, which has both ubiquitin lig>gg>ase and deubiquitinase activities, is involved in the cytokine-mediated immune and inflammatory responses. Several transcript variants encoding>gg> the same protein have been found for this g>gg>ene. [provided by RefSeq, Jul 2012]

TNFAIP2 Gene

tumor necrosis factor, alpha-induced protein 2

This g>gg>ene was identified as a g>gg>ene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial cells. The expression of this g>gg>ene was shown to be induced by retinoic acid in a cell line expressing>gg> a oncog>gg>enic version of the retinoic acid g>receptorg> alpha fusion protein, which sug>gg>g>gg>ested that this g>gg>ene may be a retinoic acid targ>gg>et g>gg>ene in acute promyelocytic leukemia. [provided by RefSeq, Jul 2008]

SDCBP Gene

syndecan binding>gg> protein (syntenin)

The protein encoded by this g>gg>ene was initially identified as a molecule linking>gg> syndecan-mediated sig>gg>naling>gg> to the cytoskeleton. The syntenin protein contains tandemly repeated PDZ domains that bind the cytoplasmic, C-terminal domains of a variety of transmembrane proteins. This protein may also affect cytoskeletal-membrane org>gg>anization, cell adhesion, protein trafficking>gg>, and the activation of transcription factors. The protein is primarily localized to membrane-associated adherens junctions and focal adhesions but is also found at the endoplasmic reticulum and nucleus. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. Related pseudog>gg>enes have been identified on multiple chromosomes. [provided by RefSeq, Jan 2017]

CCAT1 Gene

colon cancer associated transcript 1 (non-protein coding>gg>)

This g>gg>ene produces a long>gg> non-coding>gg> RNA that promotes tumor formation and is upreg>gg>ulated in colon cancer and other cancer cell types. This transcript may reg>gg>ulate long>gg> rang>gg>e chromosomal interactions, including>gg> at the Myc oncoprotein locus. This RNA may also function as a molecular spong>gg>e for microRNAs. [provided by RefSeq, Dec 2017]

LMBR1 Gene

limb development membrane protein 1

This g>gg>ene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has been shown to be a lipocalin transmembrane g>receptorg>. A hig>gg>hly conserved, cis-acting>gg> reg>gg>ulatory module for the sonic hedg>gg>ehog>gg> g>gg>ene is located within an intron of this g>gg>ene. Consequently, disruption of this g>gg>enic reg>gg>ion can alter sonic hedg>gg>ehog>gg> expression and affect limb patterning>gg>, but it is not known if this g>gg>ene functions directly in limb development. Mutations and chromosomal deletions and rearrang>gg>ements in this g>gg>enic reg>gg>ion are associated with acheiropody and preaxial polydactyly, which likely result from altered sonic hedg>gg>ehog>gg> expression. [provided by RefSeq, Jul 2008]

RPL13P13 Gene

ribosomal protein L13 pseudog>gg>ene 13

RPL13P12 Gene

ribosomal protein L13 pseudog>gg>ene 12

RPL13P14 Gene

ribosomal protein L13 pseudog>gg>ene 14

LL22NC01-81g>Gg>9.3 Gene

uncharacterized protein FLJ39582-like

LOC346671 Gene

ring>gg> fing>gg>er protein 14 pseudog>gg>ene

LOC100420215 Gene

RNA binding>gg> motif protein 45 pseudog>gg>ene

RFPL3 Gene

ret fing>gg>er protein-like 3

Predicted to enable protein homodimerization activity; protein kinase binding>gg> activity; and ubiquitin protein lig>gg>ase activity. Predicted to be involved in several processes, including>gg> positive reg>gg>ulation of autophag>gg>y; positive reg>gg>ulation of canonical NF-kappaB sig>gg>nal transduction; and reg>gg>ulation of viral entry into host cell. Predicted to be located in nucleus. Predicted to be active in cytosol and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL7P55 Gene

ribosomal protein L7 pseudog>gg>ene 55

RPL7P54 Gene

ribosomal protein L7 pseudog>gg>ene 54

RFPL2 Gene

ret fing>gg>er protein-like 2

Predicted to enable protein homodimerization activity; protein kinase binding>gg> activity; and ubiquitin protein lig>gg>ase activity. Predicted to be involved in several processes, including>gg> positive reg>gg>ulation of autophag>gg>y; positive reg>gg>ulation of canonical NF-kappaB sig>gg>nal transduction; and reg>gg>ulation of viral entry into host cell. Predicted to be active in cytosol and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00562 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 562

LINC00563 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 563

LINC00560 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 560

LINC00561 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 561

LINC00566 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 566

LINC00567 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 567

LINC00564 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 564

LINC00565 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 565

LOC100131785 Gene

ring>gg> fing>gg>er protein 181 pseudog>gg>ene

RPL7P58 Gene

ribosomal protein L7 pseudog>gg>ene 58

VPS8 Gene

vacuolar protein sorting>gg> 8 homolog>gg> (S. cerevisiae)

Predicted to enable metal ion binding>gg> activity. Involved in endosomal vesicle fusion. Located in early endosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

EBNA1BP2 Gene

EBNA1 binding>gg> protein 2

Enables RNA binding>gg> activity. Predicted to be involved in rRNA processing>gg> and ribosomal larg>gg>e subunit biog>gg>enesis. Located in chromosome and nucleolus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CECR7 Gene

cat eye syndrome chromosome reg>gg>ion, candidate 7 (non-protein coding>gg>)

LOC100422106 Gene

staufen double-stranded RNA binding>gg> protein 1 pseudog>gg>ene

Mg>Gg>C16275 Gene

uncharacterized protein Mg>Gg>C16275

LINC00471 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 471

MRPL36P1 Gene

mitochondrial ribosomal protein L36 pseudog>gg>ene 1

PSIP1 Gene

PC4 and SFRS1 interacting>gg> protein 1

Enables DNA-binding>gg> transcription factor binding>gg> activity; chromatin binding>gg> activity; and transcription coactivator activity. Involved in mRNA 5'-splice site recog>gg>nition and positive reg>gg>ulation of transcription by RNA polymerase II. Located in heterochromatin; nuclear periphery; and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL21P118 Gene

ribosomal protein L21 pseudog>gg>ene 118

RPL21P112 Gene

ribosomal protein L21 pseudog>gg>ene 112

RPL21P110 Gene

ribosomal protein L21 pseudog>gg>ene 110

RPL21P111 Gene

ribosomal protein L21 pseudog>gg>ene 111

RPL21P116 Gene

ribosomal protein L21 pseudog>gg>ene 116

RPL21P117 Gene

ribosomal protein L21 pseudog>gg>ene 117

RPL21P114 Gene

ribosomal protein L21 pseudog>gg>ene 114

TRIM72 Gene

tripartite motif containing>gg> 72, E3 ubiquitin protein lig>gg>ase

Enables identical protein binding>gg> activity. Predicted to be involved in several processes, including>gg> plasma membrane repair; proteasome-mediated ubiquitin-dependent protein catabolic process; and protein homoolig>gg>omerization. Predicted to act upstream of or within neg>gg>ative reg>gg>ulation of insulin g>receptorg> sig>gg>naling>gg> pathway; neg>gg>ative reg>gg>ulation of insulin-like g>gg>rowth factor g>receptorg> sig>gg>naling>gg> pathway; and neg>gg>ative reg>gg>ulation of myotube differentiation. Predicted to be located in cytoplasmic vesicle membrane. Predicted to be active in cytoplasm and sarcolemma. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM63A Gene

transmembrane protein 63A

Enables mechanosensitive monoatomic ion channel activity. Predicted to be involved in surfactant secretion. Located in bounding>gg> membrane of org>gg>anelle; centriolar satellite; and plasma membrane. Implicated in hypomyelinating>gg> leukodystrophy 19. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM63C Gene

transmembrane protein 63C

Enables calcium-activated cation channel activity. Involved in monoatomic cation transport. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in plasma membrane. Implicated in hereditary spastic parapleg>gg>ia 87. Biomarker of focal seg>gg>mental g>gg>lomerulosclerosis. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM63B Gene

transmembrane protein 63B

Enables mechanosensitive monoatomic cation channel activity. Predicted to be involved in sensory perception of sound and surfactant secretion. Located in actin cytoskeleton; cytoplasmic vesicle membrane; and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL13AP21 Gene

ribosomal protein L13a pseudog>gg>ene 21

RBM7 Gene

RNA binding>gg> motif protein 7

Enables 14-3-3 protein binding>gg> activity; pre-mRNA intronic binding>gg> activity; and snRNA binding>gg> activity. Involved in snRNA catabolic process. Located in nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RBM6 Gene

RNA binding>gg> motif protein 6

Enables RNA binding>gg> activity. Predicted to be involved in mRNA splicing>gg>, via spliceosome. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RBM5 Gene

RNA binding>gg> motif protein 5

This g>gg>ene is a candidate tumor suppressor g>gg>ene which encodes a nuclear RNA binding>gg> protein that is a component of the spliceosome A complex. The encoded protein plays a role in the induction of cell cycle arrest and apoptosis throug>gg>h pre-mRNA splicing>gg> of multiple targ>gg>et g>gg>enes including>gg> the tumor suppressor protein p53. This g>gg>ene is located within the tumor suppressor reg>gg>ion 3p21.3, and may play a role in the inhibition of tumor transformation and prog>gg>ression of several malig>gg>nancies including>gg> lung>gg> cancer. [provided by RefSeq, Oct 2011]

RBM4 Gene

RNA binding>gg> motif protein 4

Enables RNA binding>gg> activity and cyclin binding>gg> activity. Involved in several processes, including>gg> IRES-dependent translational initiation of linear mRNA; neg>gg>ative reg>gg>ulation of translation; and reg>gg>ulation of alternative mRNA splicing>gg>, via spliceosome. Located in cytoplasmic stress g>gg>ranule; cytosol; and nuclear lumen. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RBM3 Gene

RNA binding>gg> motif (RNP1, RRM) protein 3

This g>gg>ene is a member of the g>gg>lycine-rich RNA-binding>gg> protein family and encodes a protein with one RNA recog>gg>nition motif (RRM) domain. Expression of this g>gg>ene is induced by cold shock and low oxyg>gg>en tension. A pseudog>gg>ene exists on chromosome 1. Multiple alternatively spliced transcript variants that are predicted to encode different isoforms have been characterized althoug>gg>h some of these variants fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2008]

RPL39P5 Gene

ribosomal protein L39 pseudog>gg>ene 5

Predicted to be a structural constituent of ribosome. Predicted to be involved in translation. Predicted to be located in ribosome. Predicted to be part of cytosolic larg>gg>e ribosomal subunit. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RBMX Gene

RNA binding>gg> motif protein, X-linked

This g>gg>ene belong>gg>s to the RBMY g>gg>ene family which includes candidate Y chromosome spermatog>gg>enesis g>gg>enes. This g>gg>ene, an active X chromosome homolog>gg> of the Y chromosome RBMY g>gg>ene, is widely expressed whereas the RBMY g>gg>ene evolved a male-specific function in spermatog>gg>enesis. Pseudog>gg>enes of this g>gg>ene, found on chromosomes 1, 4, 9, 11, and 6, were likely derived by retrotransposition from the orig>gg>inal g>gg>ene. Alternatively spliced transcript variants encoding>gg> different isoforms have been identified. A snoRNA g>gg>ene (SNORD61) is found in one of its introns. [provided by RefSeq, Sep 2009]

AKIP1 Gene

A kinase (PRKA) interacting>gg> protein 1

This g>gg>ene encodes a nuclear protein that interacts with protein kinase A catalytic subunit, and reg>gg>ulates the effect of the cAMP-dependent protein kinase sig>gg>naling>gg> pathway on the NF-kappa-B activation cascade. Alternatively spliced transcript variants have been described for this g>gg>ene. [provided by RefSeq, Oct 2011]

FLJ42200 Gene

FLJ42200 protein

CDY9P Gene

chromodomain protein, Y-linked 9 pseudog>gg>ene

LOC100996401 Gene

transmembrane protein 191B

PAPL Gene

iron/zinc purple acid phosphatase-like protein

Purple acid phosphatases (PAPs), including>gg> PAPL, are a family of binuclear metallohydrolases that have been identified in plants, animals, and fung>gg>i (Flanag>gg>an et al., 2006 [PubMed 16793224]).[supplied by OMIM, Mar 2008]

ZNF833P Gene

zinc fing>gg>er protein 833, pseudog>gg>ene

Predicted to enable DNA-binding>gg> transcription factor activity. Predicted to be involved in reg>gg>ulation of g>gg>ene expression. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF185 Gene

zinc fing>gg>er protein 185 (LIM domain)

Zinc-fing>gg>er proteins bind nucleic acids and play important roles in various cellular functions, including>gg> cell proliferation, differentiation, and apoptosis. This g>gg>ene encodes a LIM-domain zinc fing>gg>er protein. The LIM domain is composed of two contig>gg>uous zinc fing>gg>er domains, separated by a two-amino acid residue hydrophobic linker. The LIM domain mediates protein:protein interactions. Multiple alternatively spliced transcript variants encoding>gg> different isoforms have been identified.[provided by RefSeq, May 2010]

ZNF184 Gene

zinc fing>gg>er protein 184

The protein encoded by this g>gg>ene is predicted to be a Kruppel C2H2-type zinc-fing>gg>er protein family member. Sequence analysis predicts that the protein contains two Kruppel associated box (KRAB) boxes in the N-terminus and hig>gg>hly conserved zinc fing>gg>er motifs at the C-terminus. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Dec 2016]

ZNF181 Gene

zinc fing>gg>er protein 181

Zinc fing>gg>er proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc fing>gg>er domain is a conserved amino acid sequence motif containing>gg> 2 specifically positioned cysteines and 2 histidines that are involved in coordinating>gg> zinc. Kruppel-related proteins form 1 family of zinc fing>gg>er proteins. See MIM 604749 for additional information on zinc fing>gg>er proteins.[supplied by OMIM, Jul 2003]

ZNF180 Gene

zinc fing>gg>er protein 180

Zinc fing>gg>er proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc fing>gg>er domain is a conserved amino acid sequence motif containing>gg> 2 specifically positioned cysteines and 2 histidines that are involved in coordinating>gg> zinc. Kruppel-related proteins form 1 family of zinc fing>gg>er proteins. See MIM 604749 for additional information on zinc fing>gg>er proteins.[supplied by OMIM, Jul 2002]

ZNF182 Gene

zinc fing>gg>er protein 182

Zinc-fing>gg>er proteins bind nucleic acids and play important roles in various cellular functions, including>gg> cell proliferation, differentiation, and apoptosis. This g>gg>ene encodes a zinc fing>gg>er protein, and belong>gg>s to the krueppel C2H2-type zinc-fing>gg>er protein family. It may be involved in transcriptional reg>gg>ulation. Multiple alternatively spliced transcript variants encoding>gg> different isoforms have been identified. [provided by RefSeq, May 2010]

ZNF189 Gene

zinc fing>gg>er protein 189

Kruppel-like zinc fing>gg>er proteins such as ZNF189 contain a conserved stretch of 7 amino acids that connects a variable number of DNA-binding>gg> zinc fing>gg>er repeats of the cys(2)his(2) (C2H2) type (summarized by Odeberg>gg> et al., 1998 [PubMed 9653648]). Approximately 30% of human Kruppel-like zinc fing>gg>er proteins contain an N-terminal Kruppel-associated box (KRAB) domain. The KRAB domain consists of approximately 75 amino acids that may be subdivided into an A box, which is present in every KRAB domain and is essential for transcriptional repression, and a B box, which is not always present.[supplied by OMIM, May 2010]

MRPS15P1 Gene

mitochondrial ribosomal protein S15 pseudog>gg>ene 1

MRPS15P2 Gene

mitochondrial ribosomal protein S15 pseudog>gg>ene 2

ZNF239 Gene

zinc fing>gg>er protein 239

MOK2 proteins are DNA- and RNA-binding>gg> proteins that are mainly associated with nuclear RNP components, including>gg> the nucleoli and extranucleolar structures (Arranz et al., 1997 [PubMed 9121460]).[supplied by OMIM, Mar 2008]

ZNF236 Gene

zinc fing>gg>er protein 236

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Involved in cellular response to g>gg>lucose stimulus. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF235 Gene

zinc fing>gg>er protein 235

This g>gg>ene product belong>gg>s to the zinc fing>gg>er protein superfamily, members of which are reg>gg>ulatory proteins characterized by nucleic acid-binding>gg> zinc fing>gg>er domains. The encoded protein is a member of the Kruppel family of zinc fing>gg>er proteins, and contains Kruppel-associated box (KRAB) A and B domains and 15 tandemly arrayed C2H2-type zinc fing>gg>ers. It is an ortholog>gg> of the mouse Zfp93 protein. This g>gg>ene is located in a cluster of zinc fing>gg>er g>gg>enes on 19q13.2. [provided by RefSeq, Jul 2008]

ZNF234 Gene

zinc fing>gg>er protein 234

Predicted to enable DNA-binding>gg> transcription factor activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF233 Gene

zinc fing>gg>er protein 233

Predicted to enable DNA-binding>gg> transcription factor activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF232 Gene

zinc fing>gg>er protein 232

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Located in cytosol and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF230 Gene

zinc fing>gg>er protein 230

Predicted to enable DNA-binding>gg> transcription factor activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100422669 Gene

tyrosine 3-monooxyg>gg>enase/tryptophan 5-monooxyg>gg>enase activation protein, zeta polypeptide pseudog>gg>ene

TRAM1 Gene

translocation associated membrane protein 1

This g>gg>ene encodes a multi-pass membrane protein that is part of the mammalian endoplasmic reticulum. The encoded protein influences g>gg>lycosylation and facilitates the translocation of secretory proteins across the endoplasmic reticulum membrane by reg>gg>ulating>gg> which domains of the nascent polypeptide chain are visible to the cytosol during>gg> a translocational pause. [provided by RefSeq, Oct 2009]

TRAM2 Gene

translocation associated membrane protein 2

TRAM2 is a component of the translocon, a g>gg>ated macromolecular channel that controls the posttranslational processing>gg> of nascent secretory and membrane proteins at the endoplasmic reticulum (ER) membrane.[supplied by OMIM, Jul 2004]

RPL5P33 Gene

ribosomal protein L5 pseudog>gg>ene 33

RPL5P32 Gene

ribosomal protein L5 pseudog>gg>ene 32

RPL5P31 Gene

ribosomal protein L5 pseudog>gg>ene 31

RPL5P30 Gene

ribosomal protein L5 pseudog>gg>ene 30

RPL5P35 Gene

ribosomal protein L5 pseudog>gg>ene 35

RPL5P34 Gene

ribosomal protein L5 pseudog>gg>ene 34

g>Gg>NL2P1 Gene

g>gg>uanine nucleotide binding>gg> protein-like 2 (nucleolar) pseudog>gg>ene 1

LOH12CR2 Gene

loss of heterozyg>gg>osity, 12, chromosomal reg>gg>ion 2 (non-protein coding>gg>)

LINC01362 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1362

LINC01361 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1361

LINC01366 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1366

LOC100101148 Gene

FK506 binding>gg> protein 6, 36kDa pseudog>gg>ene

LINC01364 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1364

PMFBP1 Gene

polyamine modulated factor 1 binding>gg> protein 1

Involved in spermatog>gg>enesis. Located in sperm head-tail coupling>gg> apparatus. Implicated in spermatog>gg>enic failure 31. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC643201 Gene

centrosomal protein 192kDa pseudog>gg>ene

HSPD1P3 Gene

heat shock 60kDa protein 1 (chaperonin) pseudog>gg>ene 3

HSPD1P2 Gene

heat shock 60kDa protein 1 (chaperonin) pseudog>gg>ene 2

HSPD1P1 Gene

heat shock 60kDa protein 1 (chaperonin) pseudog>gg>ene 1

HSPD1P7 Gene

heat shock 60kDa protein 1 (chaperonin) pseudog>gg>ene 7

HSPD1P6 Gene

heat shock 60kDa protein 1 (chaperonin) pseudog>gg>ene 6

HSPD1P5 Gene

heat shock 60kDa protein 1 (chaperonin) pseudog>gg>ene 5

HSPD1P4 Gene

heat shock 60kDa protein 1 (chaperonin) pseudog>gg>ene 4

HSPD1P9 Gene

heat shock 60kDa protein 1 (chaperonin) pseudog>gg>ene 9

HSPD1P8 Gene

heat shock 60kDa protein 1 (chaperonin) pseudog>gg>ene 8

VAMP1 Gene

vesicle-associated membrane protein 1 (synaptobrevin 1)

Synapotobrevins, syntaxins, and the synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking>gg> and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this g>gg>ene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Mutations in this g>gg>ene are associated with autosomal dominant spastic ataxia 1. Multiple alternative splice variants have been described, but the full-leng>gg>th nature of some variants has not been defined. [provided by RefSeq, Jul 2014]

VAMP3 Gene

vesicle-associated membrane protein 3

Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein are the main components of a protein complex involved in the docking>gg> and/or fusion of synaptic vesicles with the presynaptic membrane. This g>gg>ene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Because of its hig>gg>h homolog>gg>y to other known VAMPs, its broad tissue distribution, and its subcellular localization, the protein encoded by this g>gg>ene was shown to be the human equivalent of the rodent cellubrevin. In platelets the protein resides on a compartment that is not mobilized to the plasma membrane on calcium or thrombin stimulation. [provided by RefSeq, Jul 2008]

VAMP2 Gene

vesicle-associated membrane protein 2 (synaptobrevin 2)

The protein encoded by this g>gg>ene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking>gg> and/or fusion of synaptic vesicles with the presynaptic membrane. This g>gg>ene is thoug>gg>ht to participate in neurotransmitter release at a step between docking>gg> and fusion. The protein forms a stable complex with syntaxin, synaptosomal-associated protein, 25 kD, and synaptotag>gg>min. It also forms a distinct complex with synaptophysin. It is a likely candidate g>gg>ene for familial infantile myasthenia (FIMg>Gg>) because of its map location and because it encodes a synaptic vesicle protein of the type that has been implicated in the pathog>gg>enesis of FIMg>Gg>. [provided by RefSeq, Jul 2008]

VAMP5 Gene

vesicle-associated membrane protein 5

Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein are the main components of a protein complex involved in the docking>gg> and/or fusion of vesicles and cell membranes. The VAMP5 g>gg>ene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family and the SNARE superfamily. This VAMP family member may participate in vesicle trafficking>gg> events that are associated with myog>gg>enesis. [provided by RefSeq, Jul 2008]

VAMP4 Gene

vesicle-associated membrane protein 4

Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking>gg> and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this g>gg>ene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. This protein may play a role in trans-g>Gg>olg>gg>i network-to-endosome transport. [provided by RefSeq, Jul 2008]

VAMP7 Gene

vesicle-associated membrane protein 7

This g>gg>ene encodes a transmembrane protein that is a member of the soluble N-ethylmaleimide-sensitive factor attachment protein g>receptorg> (SNARE) family. The encoded protein localizes to late endosomes and lysosomes and is involved in the fusion of transport vesicles to their targ>gg>et membranes. Alternate splicing>gg> results in multiple transcript variants.[provided by RefSeq, Jun 2010]

VAMP8 Gene

vesicle-associated membrane protein 8

This g>gg>ene encodes an integ>gg>ral membrane protein that belong>gg>s to the synaptobrevin/vesicle-associated membrane protein subfamily of soluble N-ethylmaleimide-sensitive factor attachment protein g>receptorg>s (SNAREs). The encoded protein is involved in the fusion of synaptic vesicles with the presynaptic membrane.[provided by RefSeq, Jun 2010]

LOC100132651 Gene

UBX domain protein 2A pseudog>gg>ene

TNIP3 Gene

TNFAIP3 interacting>gg> protein 3

Enables polyubiquitin modification-dependent protein binding>gg> activity. Involved in cellular response to lipopolysaccharide; neg>gg>ative reg>gg>ulation of canonical NF-kappaB sig>gg>nal transduction; and pattern recog>gg>nition g>receptorg> sig>gg>naling>gg> pathway. Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100418533 Gene

ribosomal protein L15 pseudog>gg>ene

HSPH1 Gene

heat shock 105kDa/110kDa protein 1

This g>gg>ene encodes a member of the heat shock protein 70 family of proteins. The encoded protein functions as a nucleotide exchang>gg>e factor for the molecular chaperone heat shock cog>gg>nate 71 kDa protein (Hsc70). In addition, this protein plays a distinct but related role as a holdase that inhibits the ag>gg>g>gg>reg>gg>ation of misfolded proteins, including>gg> the cystic fibrosis transmembrane conductance reg>gg>ulator (CFTR) protein. Elevated expression of this protein has been observed in numerous human cancers. [provided by RefSeq, Mar 2017]

LIM2 Gene

lens intrinsic membrane protein 2, 19kDa

This g>gg>ene encodes an eye lens-specific protein found at the junctions of lens fiber cells, where it may contribute to cell junctional org>gg>anization. It acts as a g>receptorg> for calmodulin, and may play an important role in both lens development and cataractog>gg>enesis. Mutations in this g>gg>ene have been associated with cataract formation. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene.[provided by RefSeq, Sep 2009]

RPL27P12 Gene

ribosomal protein L27 pseudog>gg>ene 12

LOC100418531 Gene

ribosomal protein L7a pseudog>gg>ene

RPL27P11 Gene

ribosomal protein L27 pseudog>gg>ene 11

RPL18AP3 Gene

ribosomal protein L18a pseudog>gg>ene 3

CEP19 Gene

centrosomal protein 19kDa

The protein encoded by this g>gg>ene localizes to centrosomes and primary cilia and co-localizes with a marker for the mother centriole. This g>gg>ene resides in a reg>gg>ion of human chromosome 3 that is linked to morbid obesity. A homozyg>gg>ous knockout of the ortholog>gg>ous g>gg>ene in mouse resulted in mice with morbid obesity, hyperphag>gg>y, g>gg>lucose intolerance, and insulin resistance. Mutations in this g>gg>ene cause morbid obesity and spermatog>gg>enic failure (MOSPg>Gg>F). This g>gg>ene has a pseudog>gg>ene on human chromosome 2. [provided by RefSeq, Apr 2014]

FBXO2 Gene

F-box protein 2

This g>gg>ene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein lig>gg>ase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing>gg> WD-40 domains, Fbls containing>gg> leucine-rich repeats, and Fbxs containing>gg> either different protein-protein interaction modules or no recog>gg>nizable motifs. The protein encoded by this g>gg>ene belong>gg>s to the Fbxs class. This protein is hig>gg>hly similar to the rat NFB42 (neural F Box 42 kDa) protein which is enriched in the nervous system and may play a role in maintaining>gg> neurons in a postmitotic state. [provided by RefSeq, Jul 2008]

FBXO3 Gene

F-box protein 3

This g>gg>ene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein lig>gg>ase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing>gg> WD-40 domains, Fbls containing>gg> leucine-rich repeats, and Fbxs containing>gg> either different protein-protein interaction modules or no recog>gg>nizable motifs. The protein encoded by this g>gg>ene belong>gg>s to the Fbxs class. Alternative splicing>gg> of this g>gg>ene g>gg>enerates 2 transcript variants diverg>gg>ing>gg> at the 3' end. [provided by RefSeq, Jul 2008]

FBXO4 Gene

F-box protein 4

This g>gg>ene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein lig>gg>ase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing>gg> WD-40 domains, Fbls containing>gg> leucine-rich repeats, and Fbxs containing>gg> either different protein-protein interaction modules or no recog>gg>nizable motifs. The protein encoded by this g>gg>ene belong>gg>s to the Fbxs class. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2014]

FBXO5 Gene

F-box protein 5

This g>gg>ene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein lig>gg>ase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing>gg> WD-40 domains, Fbls containing>gg> leucine-rich repeats, and Fbxs containing>gg> either different protein-protein interaction modules or no recog>gg>nizable motifs. The protein encoded by this g>gg>ene belong>gg>s to the Fbxs class. This protein is similar to xenopus early mitotic inhibitor-1 (Emi1), which is a mitotic reg>gg>ulator that interacts with Cdc20 and inhibits the anaphase promoting>gg> complex. Alternatively spliced transcript variants encoding>gg> different isoforms have been identified. [provided by RefSeq, Dec 2008]

FBXO6 Gene

F-box protein 6

This g>gg>ene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein lig>gg>ase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing>gg> WD-40 domains, Fbls containing>gg> leucine-rich repeats, and Fbxs containing>gg> either different protein-protein interaction modules or no recog>gg>nizable motifs. The protein encoded by this g>gg>ene belong>gg>s to the Fbxs class, and its C-terminal reg>gg>ion is hig>gg>hly similar to that of rat NFB42 (neural F Box 42 kDa) which may be involved in the control of the cell cycle. [provided by RefSeq, Jul 2008]

FBXO7 Gene

F-box protein 7

This g>gg>ene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein lig>gg>ase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing>gg> WD-40 domains, Fbls containing>gg> leucine-rich repeats, and Fbxs containing>gg> either different protein-protein interaction modules or no recog>gg>nizable motifs. The protein encoded by this g>gg>ene belong>gg>s to the Fbxs class and it may play a role in reg>gg>ulation of hematopoiesis. Alternatively spliced transcript variants of this g>gg>ene have been identified with the full-leng>gg>th natures of only some variants being>gg> determined. [provided by RefSeq, Jul 2008]

FBXO8 Gene

F-box protein 8

This g>gg>ene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein lig>gg>ase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing>gg> WD-40 domains, Fbls containing>gg> leucine-rich repeats, and Fbxs containing>gg> either different protein-protein interaction modules or no recog>gg>nizable motifs. The protein encoded by this g>gg>ene belong>gg>s to the Fbxs class. It contains a C-terminal amino acid sequence that bears a sig>gg>nificant similarity with a portion of yeast Sec7p, a critical reg>gg>ulator of vesicular protein transport. This human protein may interact with ADP-ribosylation factor(s)(ARFs) and exhibit ARF-g>Gg>EF (g>gg>uanine nucleotide exchang>gg>e factor) activity. [provided by RefSeq, Jul 2008]

FBXO9 Gene

F-box protein 9

This g>gg>ene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein lig>gg>ase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing>gg> WD-40 domains, Fbls containing>gg> leucine-rich repeats, and Fbxs containing>gg> either different protein-protein interaction modules or no recog>gg>nizable motifs. The protein encoded by this g>gg>ene belong>gg>s to the Fbxs class. Alternative splicing>gg> of this g>gg>ene g>gg>enerates at least 3 transcript variants diverg>gg>ing>gg> at the 5' terminus. [provided by RefSeq, Jul 2008]

LOC102723552 Gene

ankyrin repeat domain-containing>gg> protein 20A2

LOC643784 Gene

NLR family, apoptosis inhibitory protein pseudog>gg>ene

NAP1L4P2 Gene

nucleosome assembly protein 1-like 4 pseudog>gg>ene 2

NAP1L4P3 Gene

nucleosome assembly protein 1-like 4 pseudog>gg>ene 3

LOC100419870 Gene

zinc fing>gg>er protein 717 pseudog>gg>ene

Rg>Gg>S17P1 Gene

reg>gg>ulator of g>Gg>-protein sig>gg>naling>gg> 17 pseudog>gg>ene 1

LOC105376549 Gene

activating>gg> transcription factor 7-interacting>gg> protein 2 pseudog>gg>ene

LOC646666 Gene

apolipoprotein A-I binding>gg> protein pseudog>gg>ene

OOEP Gene

oocyte expressed protein

Predicted to enable RNA binding>gg> activity. Predicted to be involved in several processes, including>gg> cytoskeleton org>gg>anization; positive reg>gg>ulation of double-strand break repair via homolog>gg>ous recombination; and positive reg>gg>ulation of meiotic nuclear division. Predicted to act upstream of or within several processes, including>gg> embryo implantation; in utero embryonic development; and protein phosphorylation. Located in cytoplasm and nucleus. Part of subcortical maternal complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FAM90A5P Gene

putative protein FAM90A5

FAM90A5 belong>gg>s to subfamily II of the primate-specific FAM90A g>gg>ene family, which orig>gg>inated from multiple duplications and rearrang>gg>ements (Bosch et al., 2007 [PubMed 17684299]). For backg>gg>round information on the FAM90A g>gg>ene family, as well as information on the evolution of FAM90A g>gg>enes, see FAM90A1 (MIM 613041).[supplied by OMIM, May 2010]

SNTB2 Gene

syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)

Dystrophin is a larg>gg>e, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing>gg> in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this g>gg>ene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This g>gg>ene is a member of the syntrophin g>gg>ene family, which contains at least two other structurally-related g>gg>enes. [provided by RefSeq, Jul 2008]

SNTB1 Gene

syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)

Dystrophin is a larg>gg>e, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing>gg> in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this g>gg>ene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This g>gg>ene is a member of the syntrophin g>gg>ene family, which contains at least two other structurally-related g>gg>enes. [provided by RefSeq, Jul 2008]

LOC729968 Gene

spore coat protein SP96

CORO1B Gene

coronin, actin binding>gg> protein, 1B

Members of the coronin family, such as CORO1B, are WD repeat-containing>gg> actin-binding>gg> proteins that reg>gg>ulate cell motility (Cai et al., 2005 [PubMed 16027158]).[supplied by OMIM, Mar 2008]

CORO1C Gene

coronin, actin binding>gg> protein, 1C

This g>gg>ene encodes a member of the WD repeat protein family. WD repeats are minimally conserved reg>gg>ions of approximately 40 amino acids typically bracketed by g>gg>ly-his and trp-asp (g>Gg>H-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including>gg> cell cycle prog>gg>ression, sig>gg>nal transduction, apoptosis, and g>gg>ene reg>gg>ulation. Three transcript variants encoding>gg> two different isoforms have been found for this g>gg>ene. [provided by RefSeq, Feb 2013]

CORO1A Gene

coronin, actin binding>gg> protein, 1A

This g>gg>ene encodes a member of the WD repeat protein family. WD repeats are minimally conserved reg>gg>ions of approximately 40 amino acids typically bracketed by g>gg>ly-his and trp-asp (g>Gg>H-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including>gg> cell cycle prog>gg>ression, sig>gg>nal transduction, apoptosis, and g>gg>ene reg>gg>ulation. Alternative splicing>gg> results in multiple transcript variants. A related pseudog>gg>ene has been defined on chromosome 16. [provided by RefSeq, Sep 2010]

WASF1 Gene

WAS protein family, member 1

The protein encoded by this g>gg>ene, a member of the Wiskott-Aldrich syndrome protein (WASP)-family, plays a critical role downstream of Rac, a Rho-family small g>Gg>TPase, in reg>gg>ulating>gg> the actin cytoskeleton required for membrane ruffling>gg>. It has been shown to associate with an actin nucleation core Arp2/3 complex while enhancing>gg> actin polymerization in vitro. Wiskott-Aldrich syndrome is a disease of the immune system, likely due to defects in reg>gg>ulation of actin cytoskeleton. Multiple alternatively spliced transcript variants encoding>gg> the same protein have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

WASF2 Gene

WAS protein family, member 2

This g>gg>ene encodes a member of the Wiskott-Aldrich syndrome protein family. The g>gg>ene product is a protein that forms a multiprotein complex that links g>receptorg> kinases and actin. Binding>gg> to actin occurs throug>gg>h a C-terminal verprolin homolog>gg>y domain in all family members. The multiprotein complex serves to tranduce sig>gg>nals that involve chang>gg>es in cell shape, motility or function. The published map location (PMID:10381382) has been chang>gg>ed based on recent g>gg>enomic sequence comparisons, which indicate that the expressed g>gg>ene is located on chromosome 1, and a pseudog>gg>ene may be located on chromosome X. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jan 2011]

WASF3 Gene

WAS protein family, member 3

This g>gg>ene encodes a member of the Wiskott-Aldrich syndrome protein family. The g>gg>ene product is a protein that forms a multiprotein complex that links g>receptorg> kinases and actin. Binding>gg> to actin occurs throug>gg>h a C-terminal verprolin homolog>gg>y domain in all family members. The multiprotein complex serves to tranduce sig>gg>nals that involve chang>gg>es in cell shape, motility or function. A pseudog>gg>ene of this g>gg>ene have been defined on chromosome 6. Alternative splicing>gg> results in multiple transcript variants [provided by RefSeq, May 2014]

YWHAZ Gene

tyrosine 3-monooxyg>gg>enase/tryptophan 5-monooxyg>gg>enase activation protein, zeta

This g>gg>ene product belong>gg>s to the 14-3-3 family of proteins which mediate sig>gg>nal transduction by binding>gg> to phosphoserine-containing>gg> proteins. This hig>gg>hly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and sheep ortholog>gg>s. The encoded protein interacts with IRS1 protein, sug>gg>g>gg>esting>gg> a role in reg>gg>ulating>gg> insulin sensitivity. Several transcript variants that differ in the 5' UTR but that encode the same protein have been identified for this g>gg>ene. [provided by RefSeq, Oct 2008]

LOC392536 Gene

filamin binding>gg> LIM protein 1 pseudog>gg>ene

HECTD2 Gene

HECT domain containing>gg> E3 ubiquitin protein lig>gg>ase 2

Predicted to enable ubiquitin protein lig>gg>ase activity. Predicted to be involved in protein polyubiquitination. Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

HECTD3 Gene

HECT domain containing>gg> E3 ubiquitin protein lig>gg>ase 3

The protein encoded by this g>gg>ene transfers ubiquitin from an E2 ubiquitin-conjug>gg>ating>gg> enzyme to targ>gg>eted substrates, leading>gg> to the deg>gg>radation of those substrates. The encoded protein has been shown to transfer ubiquitin to TRIOBP to facilitate cell cycle prog>gg>ression, and to STX8. [provided by RefSeq, Dec 2012]

HECTD4 Gene

HECT domain containing>gg> E3 ubiquitin protein lig>gg>ase 4

Predicted to enable ubiquitin-protein transferase activity. Involved in g>gg>lucose homeostasis and g>gg>lucose metabolic process. Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RALg>Gg>APA2 Gene

Ral g>Gg>TPase activating>gg> protein, alpha subunit 2 (catalytic)

Predicted to enable g>Gg>TPase activator activity and protein heterodimerization activity. Predicted to be involved in activation of g>Gg>TPase activity. Predicted to act upstream of or within Ral protein sig>gg>nal transduction; reg>gg>ulation of exocyst localization; and reg>gg>ulation of protein localization. Located in cytosol and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC503540 Gene

AKT interacting>gg> protein pseudog>gg>ene

LOC100420002 Gene

PDg>Gg>FA associated protein 1 pseudog>gg>ene

LOC100420008 Gene

transmembrane protein 126B pseudog>gg>ene

YWHAZP7 Gene

tyrosine 3-monooxyg>gg>enase/tryptophan 5-monooxyg>gg>enase activation protein, zeta pseudog>gg>ene 7

YWHAZP4 Gene

tyrosine 3-monooxyg>gg>enase/tryptophan 5-monooxyg>gg>enase activation protein, zeta pseudog>gg>ene 4

LOC100288379 Gene

ribosomal protein S7 pseudog>gg>ene

LINC01002 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1002

LINC01000 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1000

LINC01006 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1006

Predicted to be located in cytoplasm and membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC01007 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1007

LINC01004 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1004

Predicted to be a structural constituent of ribosome. Predicted to be located in ribosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

POC5 Gene

POC5 centriolar protein

Predicted to be involved in eye photog>receptorg> cell development. Located in centrosome; cytosol; and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

DKFZP547L112 Gene

uncharacterized protein DKFZp547L112

SHCBP1L Gene

SHC SH2-domain binding>gg> protein 1-like

This g>gg>ene encodes a Src homolog>gg>y 2 domain-binding>gg> protein 1-like protein. The encoded protein interacts with heat shock 70 kDa protein 2 and may be involved in maintaining>gg> spindle integ>gg>rity during>gg> meiosis. This g>gg>ene is located in reg>gg>ion of chromoso0me 1 encompassing>gg> a prostate cancer susceptibility locus. [provided by RefSeq, Sep 2016]

UQCRHL Gene

ubiquinol-cytochrome c reductase hing>gg>e protein-like

This g>gg>ene has characteristics of a pseudog>gg>ene derived from the UQCRH g>gg>ene. However, there is still an open reading>gg> frame that could produce a protein of the same or nearly the same size as that of the UQCRH g>gg>ene, so this g>gg>ene is being>gg> called protein-coding>gg> for now. [provided by RefSeq, Jul 2008]

LOC100418549 Gene

zinc fing>gg>er protein 93 pseudog>gg>ene

DSPA2D Gene

interferon induced transmembrane protein 3 pseudog>gg>ene

LOC100418540 Gene

ribosomal protein L15 pseudog>gg>ene

TSPY13P Gene

testis specific protein, Y-linked 13, pseudog>gg>ene

ARHg>Gg>AP11A Gene

Rho g>Gg>TPase activating>gg> protein 11A

This g>gg>ene encodes a member of the Rho g>Gg>TPase activating>gg> protein family. In response to DNA damag>gg>e, the encoded protein interacts with the p53 tumor suppressor protein and stimulates its tetramerization, which results in cell-cycle arrest and apoptosis. A chromosomal deletion that includes this g>gg>ene is one cause of Prader-Willi syndrome, and an intronic variant of this g>gg>ene may be associated with sleep duration in children. This g>gg>ene is hig>gg>hly expressed in colon cancers and in a human basal-like breast cancer cell line. This g>gg>ene also produces a ARHg>Gg>AP11A-SCg>Gg>5 readthroug>gg>h transcript and ARHg>Gg>AP11A-SCg>Gg>5 protein. [provided by RefSeq, Feb 2019]

ARHg>Gg>AP11B Gene

Rho g>Gg>TPase activating>gg> protein 11B

Predicted to enable g>Gg>TPase activator activity. Involved in cerebral cortex development and neg>gg>ative reg>gg>ulation of mitochondrial membrane permeability. Acts upstream of with a positive effect on g>gg>lutamine catabolic process. Located in mitochondrial matrix. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100422315 Gene

poly(A) binding>gg> protein, cytoplasmic 4 (inducible form) pseudog>gg>ene

LOC100996724 Gene

phosphodiesterase 4D interacting>gg> protein-like

MFAP5 Gene

microfibrillar associated protein 5

This g>gg>ene encodes a 25-kD microfibril-associated g>gg>lycoprotein which is a component of microfibrils of the extracellular matrix. The encoded protein promotes attachment of cells to microfibrils via alpha-V-beta-3 integ>gg>rin. Deficiency of this g>gg>ene in mice results in neutropenia. Alternate splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Jul 2014]

MFAP4 Gene

microfibrillar-associated protein 4

This g>gg>ene encodes a protein with similarity to a bovine microfibril-associated protein. The protein has binding>gg> specificities for both collag>gg>en and carbohydrate. It is thoug>gg>ht to be an extracellular matrix protein which is involved in cell adhesion or intercellular interactions. The g>gg>ene is located within the Smith-Mag>gg>enis syndrome reg>gg>ion. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Nov 2010]

MFAP3 Gene

microfibrillar-associated protein 3

Predicted to enable MHC class II protein binding>gg> activity and protein tyrosine kinase binding>gg> activity. Predicted to be involved in T cell activation; interleukin-15-mediated sig>gg>naling>gg> pathway; and positive reg>gg>ulation of ERK1 and ERK2 cascade. Predicted to be located in extracellular reg>gg>ion. Predicted to be active in external side of plasma membrane and membrane raft. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MFAP2 Gene

microfibrillar-associated protein 2

Microfibrillar-associated protein 2 is a major antig>gg>en of elastin-associated microfibrils and a candidate for involvement in the etiolog>gg>y of inherited connective tissue diseases. Four transcript variants encoding>gg> two different isoforms have been found for this g>gg>ene. [provided by RefSeq, Sep 2008]

MFAP1 Gene

microfibrillar-associated protein 1

Enables RNA binding>gg> activity. Involved in mRNA splicing>gg>, via spliceosome. Located in centrosome; microfibril; and nucleoplasm. Part of U2-type precatalytic spliceosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC646506 Gene

lysosomal-associated membrane protein 1 pseudog>gg>ene

SNAP25 Gene

synaptosomal-associated protein, 25kDa

Synaptic vesicle membrane docking>gg> and fusion is mediated by SNAREs (soluble N-ethylmaleimide-sensitive factor attachment protein g>receptorg>s) located on the vesicle membrane (v-SNAREs) and the targ>gg>et membrane (t-SNAREs). The assembled v-SNARE/t-SNARE complex consists of a bundle of four helices, one of which is supplied by v-SNARE and the other three by t-SNARE. For t-SNAREs on the plasma membrane, the protein syntaxin supplies one helix and the protein encoded by this g>gg>ene contributes the other two. Therefore, this g>gg>ene product is a presynaptic plasma membrane protein involved in the reg>gg>ulation of neurotransmitter release. Two alternative transcript variants encoding>gg> different protein isoforms have been described for this g>gg>ene. [provided by RefSeq, Jul 2008]

SNAP23 Gene

synaptosomal-associated protein, 23kDa

Specificity of vesicular transport is reg>gg>ulated, in part, by the interaction of a vesicle-associated membrane protein termed synaptobrevin/VAMP with a targ>gg>et compartment membrane protein termed syntaxin. These proteins, tog>gg>ether with SNAP25 (synaptosome-associated protein of 25 kDa), form a complex which serves as a binding>gg> site for the g>gg>eneral membrane fusion machinery. Synaptobrevin/VAMP and syntaxin are believed to be involved in vesicular transport in most, if not all cells, while SNAP25 is present almost exclusively in the brain, sug>gg>g>gg>esting>gg> that a ubiquitously expressed homolog>gg> of SNAP25 exists to facilitate transport vesicle/targ>gg>et membrane fusion in other tissues. The protein encoded by this g>gg>ene is structurally and functionally similar to SNAP25 and binds tig>gg>htly to multiple syntaxins and synaptobrevins/VAMPs. It is an essential component of the hig>gg>h affinity g>receptorg> for the g>gg>eneral membrane fusion machinery and is an important reg>gg>ulator of transport vesicle docking>gg> and fusion. Two alternative transcript variants encoding>gg> different protein isoforms have been described for this g>gg>ene. [provided by RefSeq, Jul 2008]

SNAP29 Gene

synaptosomal-associated protein, 29kDa

This g>gg>ene, a member of the SNAP25 g>gg>ene family, encodes a protein involved in multiple membrane trafficking>gg> steps. Two other members of this g>gg>ene family, SNAP23 and SNAP25, encode proteins that bind a syntaxin protein and mediate synaptic vesicle membrane docking>gg> and fusion to the plasma membrane. The protein encoded by this g>gg>ene binds tig>gg>htly to multiple syntaxins and is localized to intracellular membrane structures rather than to the plasma membrane. While the protein is mostly membrane-bound, a sig>gg>nificant fraction of it is found free in the cytoplasm. Use of multiple polyadenylation sites has been noted for this g>gg>ene. [provided by RefSeq, Jul 2008]

LOC101926917 Gene

ankyrin repeat domain-containing>gg> protein 18A-like

RPL23AP81 Gene

ribosomal protein L23a pseudog>gg>ene 81

RPL23AP80 Gene

ribosomal protein L23a pseudog>gg>ene 80

RPL23AP83 Gene

ribosomal protein L23a pseudog>gg>ene 83

RPL23AP82 Gene

ribosomal protein L23a pseudog>gg>ene 82

RPL23AP85 Gene

ribosomal protein L23a pseudog>gg>ene 85

RPL23AP87 Gene

ribosomal protein L23a pseudog>gg>ene 87

RPL23AP86 Gene

ribosomal protein L23a pseudog>gg>ene 86

RPL23AP88 Gene

ribosomal protein L23a pseudog>gg>ene 88

LOC101059935 Gene

coiled-coil domain-containing>gg> protein 29-like

RBPMSLP Gene

RNA binding>gg> protein with multiple splicing>gg>-like pseudog>gg>ene

ZNF880 Gene

zinc fing>gg>er protein 880

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF883 Gene

zinc fing>gg>er protein 883

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CTNNB1 Gene

catenin (cadherin-associated protein), beta 1, 88kDa

The protein encoded by this g>gg>ene is part of a complex of proteins that constitute adherens junctions (AJs). AJs are necessary for the creation and maintenance of epithelial cell layers by reg>gg>ulating>gg> cell g>gg>rowth and adhesion between cells. The encoded protein also anchors the actin cytoskeleton and may be responsible for transmitting>gg> the contact inhibition sig>gg>nal that causes cells to stop dividing>gg> once the epithelial sheet is complete. Finally, this protein binds to the product of the APC g>gg>ene, which is mutated in adenomatous polyposis of the colon. Mutations in this g>gg>ene are a cause of colorectal cancer (CRC), pilomatrixoma (PTR), medulloblastoma (MDB), and ovarian cancer. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Aug>gg> 2016]

LOC105376788 Gene

putative uncharacterized protein FLJ46235

LINC01212 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1212

WNK2 Gene

WNK lysine deficient protein kinase 2

The protein encoded by this g>gg>ene is a cytoplasmic serine-threonine kinase that belong>gg>s to the protein kinase superfamily. The protein plays an important role in the reg>gg>ulation of electrolyte homeostasis, cell sig>gg>naling>gg> survival, and proliferation. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Sep 2013]

WNK1 Gene

WNK lysine deficient protein kinase 1

This g>gg>ene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key reg>gg>ulator of blood pressure by controlling>gg> the transport of sodium and chloride ions. Mutations in this g>gg>ene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding>gg> different isoforms have been described but the full-leng>gg>th nature of all of them has yet to be determined.[provided by RefSeq, May 2010]

TNIP2 Gene

TNFAIP3 interacting>gg> protein 2

This g>gg>ene encodes a protein which acts as an inhibitor of NFkappaB activation. The encoded protein is also involved in MAP/ERK sig>gg>naling>gg> pathway in specific cell types. It may be involved in apoptosis of endothelial cells. Alternative splicing>gg> results in multiple transcript variants. A pseudog>gg>ene related to this g>gg>ene is located on the X chromosome.[provided by RefSeq, May 2014]

LOC101060164 Gene

secretory carrier membrane protein 1 pseudog>gg>ene

TNIP1 Gene

TNFAIP3 interacting>gg> protein 1

This g>gg>ene encodes an A20-binding>gg> protein which plays a role in autoimmunity and tissue homeostasis throug>gg>h the reg>gg>ulation of nuclear factor kappa-B activation. Mutations in this g>gg>ene have been associated with psoriatic arthritis, rheumatoid arthritis, and systemic lupus erythematosus. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Nov 2011]

RPS23P10 Gene

ribosomal protein S23 pseudog>gg>ene 10

LBP Gene

lipopolysaccharide binding>gg> protein

The protein encoded by this g>gg>ene is involved in the acute-phase immunolog>gg>ic response to g>gg>ram-neg>gg>ative bacterial infections. g>Gg>ram-neg>gg>ative bacteria contain a g>gg>lycolipid, lipopolysaccharide (LPS), on their outer cell wall. Tog>gg>ether with bactericidal permeability-increasing>gg> protein (BPI), the encoded protein binds LPS and interacts with the CD14 g>receptorg>, probably playing>gg> a role in reg>gg>ulating>gg> LPS-dependent monocyte responses. Studies in mice sug>gg>g>gg>est that the encoded protein is necessary for the rapid acute-phase response to LPS but not for the clearance of LPS from circulation. This protein is part of a family of structurally and functionally related proteins, including>gg> BPI, plasma cholesteryl ester transfer protein (CETP), and phospholipid transfer protein (PLTP). [provided by RefSeq, Apr 2012]

RPE65 Gene

retinal pig>gg>ment epithelium-specific protein 65kDa

The protein encoded by this g>gg>ene is a component of the vitamin A visual cycle of the retina which supplies the 11-cis retinal chromophore of the photog>receptorg>s opsin visual pig>gg>ments. It is a member of the carotenoid cleavag>gg>e oxyg>gg>enase superfamily. All members of this superfamily are non-heme iron oxyg>gg>enases with a seven-bladed propeller fold and oxidatively cleave carotenoid carbon:carbon double bonds. However, the protein encoded by this g>gg>ene has acquired a diverg>gg>ent function that involves the concerted O-alkyl ester cleavag>gg>e of its all-trans retinyl ester substrate and all-trans to 11-cis double bond isomerization of the retinyl moiety. As such, it performs the essential enzymatic isomerization step in the synthesis of 11-cis retinal. Mutations in this g>gg>ene are associated with early-onset severe blinding>gg> disorders such as Leber cong>gg>enital. [provided by RefSeq, Oct 2017]

LOC102724179 Gene

putative BCR-like protein 2

NOS1AP Gene

nitric oxide synthase 1 (neuronal) adaptor protein

This g>gg>ene encodes a cytosolic protein that binds to the sig>gg>naling>gg> molecule, neuronal nitric oxide synthase (nNOS). This protein has a C-terminal PDZ-binding>gg> domain that mediates interactions with nNOS and an N-terminal phosphotyrosine binding>gg> (PTB) domain that binds to the small monomeric g>Gg> protein, Dexras1. Studies of the related mouse and rat proteins have shown that this protein functions as an adapter protein linking>gg> nNOS to specific targ>gg>ets, such as Dexras1 and the synapsins. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Sep 2009]

RPL27A Gene

ribosomal protein L27a

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 60S subunit. The protein belong>gg>s to the L15P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this g>gg>ene in colorectal cancers compared to adjacent normal tissues has been observed, althoug>gg>h no correlation between the level of expression and the severity of the disease has been found. As is typical for g>gg>enes encoding>gg> ribosomal proteins, multiple processed pseudog>gg>enes derived from this g>gg>ene are dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

KHSRP Gene

KH-type splicing>gg> reg>gg>ulatory protein

The KHSRP g>gg>ene encodes a multifunctional RNA-binding>gg> protein implicated in a variety of cellular processes, including>gg> transcription, alternative pre-mRNA splicing>gg>, and mRNA localization (Min et al., 1997 [PubMed 9136930]; g>Gg>herzi et al., 2004 [PubMed 15175153]).[supplied by OMIM, Apr 2010]

LOC727884 Gene

insulin-like g>gg>rowth factor 2 mRNA binding>gg> protein 2 pseudog>gg>ene

RPL17P48 Gene

ribosomal protein L17 pseudog>gg>ene 48

RPL17P49 Gene

ribosomal protein L17 pseudog>gg>ene 49

RPL17P46 Gene

ribosomal protein L17 pseudog>gg>ene 46

RPL17P47 Gene

ribosomal protein L17 pseudog>gg>ene 47

RPL17P44 Gene

ribosomal protein L17 pseudog>gg>ene 44

RPL17P45 Gene

ribosomal protein L17 pseudog>gg>ene 45

RPL17P42 Gene

ribosomal protein L17 pseudog>gg>ene 42

RPL17P43 Gene

ribosomal protein L17 pseudog>gg>ene 43

RPL17P40 Gene

ribosomal protein L17 pseudog>gg>ene 40

RPL17P41 Gene

ribosomal protein L17 pseudog>gg>ene 41

FABP6 Gene

fatty acid binding>gg> protein 6, ileal

This g>gg>ene encodes the ileal fatty acid binding>gg> protein. Fatty acid binding>gg> proteins are a family of small, hig>gg>hly conserved, cytoplasmic proteins that bind long>gg>-chain fatty acids and other hydrophobic lig>gg>ands. FABP6 and FABP1 (the liver fatty acid binding>gg> protein) are also able to bind bile acids. It is thoug>gg>ht that FABPs roles include fatty acid uptake, transport, and metabolism. Transcript variants g>gg>enerated by alternate transcription promoters and/or alternate splicing>gg> have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

FABP7 Gene

fatty acid binding>gg> protein 7, brain

The g>gg>ene encodes a small, hig>gg>hly conserved cytoplasmic protein that bind long>gg>-chain fatty acids and other hydrophobic lig>gg>ands. The encoded protein is important in the establishment of the radial g>gg>lial fiber in the developing>gg> brain. Alternative splicing>gg> and promoter usag>gg>e results in multiple transcript variants encoding>gg> different isoforms. Pseudog>gg>enes of this g>gg>ene are found on multiple chromosomes. [provided by RefSeq, Jan 2016]

FABP4 Gene

fatty acid binding>gg> protein 4, adipocyte

FABP4 encodes the fatty acid binding>gg> protein found in adipocytes. Fatty acid binding>gg> proteins are a family of small, hig>gg>hly conserved, cytoplasmic proteins that bind long>gg>-chain fatty acids and other hydrophobic lig>gg>ands. It is thoug>gg>ht that FABPs roles include fatty acid uptake, transport, and metabolism. [provided by RefSeq, Jul 2008]

FABP5 Gene

fatty acid binding>gg> protein 5 (psoriasis-associated)

This g>gg>ene encodes the fatty acid binding>gg> protein found in epidermal cells, and was first identified as being>gg> upreg>gg>ulated in psoriasis tissue. Fatty acid binding>gg> proteins are a family of small, hig>gg>hly conserved, cytoplasmic proteins that bind long>gg>-chain fatty acids and other hydrophobic lig>gg>ands. FABPs may play roles in fatty acid uptake, transport, and metabolism. Polymorphisms in this g>gg>ene are associated with type 2 diabetes. The human g>gg>enome contains many pseudog>gg>enes similar to this locus.[provided by RefSeq, Feb 2011]

FABP2 Gene

fatty acid binding>gg> protein 2, intestinal

The protein encoded by this g>gg>ene is an intracellular fatty acid-binding>gg> protein that participates in the uptake, intracellular metabolism, and transport of long>gg>-chain fatty acids. The encoded protein is also involved in the modulation of cell g>gg>rowth and proliferation. This protein binds saturated long>gg>-chain fatty acids with hig>gg>h affinity, and may act as a lipid sensor to maintain energ>gg>y homeostasis. [provided by RefSeq, Aug>gg> 2017]

FABP3 Gene

fatty acid binding>gg> protein 3, muscle and heart

The intracellular fatty acid-binding>gg> proteins (FABPs) belong>gg>s to a multig>gg>ene family. FABPs are divided into at least three distinct types, namely the hepatic-, intestinal- and cardiac-type. They form 14-15 kDa proteins and are thoug>gg>ht to participate in the uptake, intracellular metabolism and/or transport of long>gg>-chain fatty acids. They may also be responsible in the modulation of cell g>gg>rowth and proliferation. Fatty acid-binding>gg> protein 3 g>gg>ene contains four exons and its function is to arrest g>gg>rowth of mammary epithelial cells. This g>gg>ene is a candidate tumor suppressor g>gg>ene for human breast cancer. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Mar 2016]

EP300 Gene

E1A binding>gg> protein p300

This g>gg>ene encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein. It functions as histone acetyltransferase that reg>gg>ulates transcription via chromatin remodeling>gg> and is important in the processes of cell proliferation and differentiation. It mediates cAMP-g>gg>ene reg>gg>ulation by binding>gg> specifically to phosphorylated CREB protein. This g>gg>ene has also been identified as a co-activator of HIF1A (hypoxia-inducible factor 1 alpha), and thus plays a role in the stimulation of hypoxia-induced g>gg>enes such as VEg>Gg>F. Defects in this g>gg>ene are a cause of Rubinstein-Taybi syndrome and may also play a role in epithelial cancer. [provided by RefSeq, Jul 2008]

RPS27AP11 Gene

ribosomal protein S27a pseudog>gg>ene 11

CDY23P Gene

chromodomain protein, Y-linked 23 pseudog>gg>ene

RPS27AP13 Gene

ribosomal protein S27a pseudog>gg>ene 13

HSP90AB4P Gene

heat shock protein 90kDa alpha (cytosolic), class B member 4, pseudog>gg>ene

Predicted to enable ATP binding>gg> activity; ATP hydrolysis activity; and unfolded protein binding>gg> activity. Predicted to be involved in cellular response to heat; protein folding>gg>; and protein stabilization. Predicted to be located in cytoplasm. Predicted to be part of protein-containing>gg> complex. Predicted to be active in cytosol; perinuclear reg>gg>ion of cytoplasm; and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

EML2 Gene

echinoderm microtubule associated protein like 2

Enables microtubule binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of microtubule polymerization and reg>gg>ulation of microtubule nucleation. Located in mitotic spindle. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

EML3 Gene

echinoderm microtubule associated protein like 3

Predicted to enable microtubule binding>gg> activity. Involved in mitotic metaphase chromosome alig>gg>nment and reg>gg>ulation of mitotic spindle assembly. Located in several cellular components, including>gg> midbody; mitotic spindle microtubule; and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

EML1 Gene

echinoderm microtubule associated protein like 1

Human echinoderm microtubule-associated protein-like is a strong>gg> candidate for the Usher syndrome type 1A g>gg>ene. Usher syndromes (USHs) are a g>gg>roup of g>gg>enetic disorders consisting>gg> of cong>gg>enital deafness, retinitis pig>gg>mentosa, and vestibular dysfunction of variable onset and severity depending>gg> on the g>gg>enetic type. The disease process in USHs involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. The USHs are catag>gg>orized as type I (USH1A, USH1B, USH1C, USH1D, USH1E and USH1F), type II (USH2A and USH2B) and type III (USH3). The type I is the most severe form. g>Gg>ene loci responsible for these three types are all mapped. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

EML6 Gene

echinoderm microtubule associated protein like 6

Predicted to enable microtubule binding>gg> activity. Predicted to be located in cytoplasm and microtubule. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

EML4 Gene

echinoderm microtubule associated protein like 4

This g>gg>ene is a member of the echinoderm microtubule associated protein-like family. The encoded WD-repeat protein may be involved in microtubule formation. Abnormal fusion of parts of this g>gg>ene with portions of the anaplastic lymphoma g>receptorg> tyrosine kinase g>gg>ene, which g>gg>enerates EML4-ALK fusion transcripts, is one of the primary mutations associated with non-small cell lung>gg> cancer. Alternative splicing>gg> of this g>gg>ene results in two transcript variants. [provided by RefSeq, Jan 2015]

EML5 Gene

echinoderm microtubule associated protein like 5

Predicted to enable microtubule binding>gg> activity. Located in extracellular exosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC654338 Gene

brain cytoplasmic RNA 1 (non-protein coding>gg>) pseudog>gg>ene

CCSER1 Gene

coiled-coil serine-rich protein 1

Implicated in cocaine dependence. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC644746 Gene

ret fing>gg>er protein-like 3 pseudog>gg>ene

LOC100132599 Gene

zinc fing>gg>er protein 114 pseudog>gg>ene

LOC101929959 Gene

putative BMS1-like protein ENSP00000382360

LOC101929950 Gene

puromycin-sensitive aminopeptidase-like protein

APTR Gene

Alu-mediated CDKN1A/p21 transcriptional reg>gg>ulator (non-protein coding>gg>)

SH3Bg>Gg>RL3 Gene

SH3 domain binding>gg> g>gg>lutamate-rich protein like 3

Involved in cytoskeleton org>gg>anization. Located in cytosol; nuclear body; and ruffle membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SH3Bg>Gg>RL2 Gene

SH3 domain binding>gg> g>gg>lutamate-rich protein like 2

Predicted to enable SH3 domain binding>gg> activity. Located in nuclear membrane and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100420909 Gene

transmembrane protein 251 pseudog>gg>ene

MPRIPP1 Gene

myosin phosphatase Rho interacting>gg> protein pseudog>gg>ene 1

RPL13A Gene

ribosomal protein L13a

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a member of the L13P family of ribosomal proteins that is a component of the 60S subunit. The encoded protein also plays a role in the repression of inflammatory g>gg>enes as a component of the IFN-g>gg>amma-activated inhibitor of translation (g>Gg>AIT) complex. This g>gg>ene is co-transcribed with the small nucleolar RNA g>gg>enes U32, U33, U34, and U35, which are located in the second, fourth, fifth, and sixth introns, respectively. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>hout the g>gg>enome. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Jul 2012]

LOC100130532 Gene

F-box protein 38 pseudog>gg>ene

LOC100130531 Gene

ribosomal protein L39 pseudog>gg>ene

RBMY2CP Gene

RNA binding>gg> motif protein, Y-linked, family 2, member C pseudog>gg>ene

NRIR Gene

neg>gg>ative reg>gg>ulator of interferon response (non-protein coding>gg>)

This g>gg>ene is thoug>gg>ht to produce a functional long>gg> non-coding>gg> RNA. This transcript may be a neg>gg>ative reg>gg>ulator of interferon response. [provided by RefSeq, Feb 2015]

LOC105378594 Gene

nuclear speckle splicing>gg> reg>gg>ulatory protein 1-like

ST13P22 Gene

suppression of tumorig>gg>enicity 13 (colon carcinoma) (Hsp70 interacting>gg> protein) pseudog>gg>ene 22

ZNF718 Gene

zinc fing>gg>er protein 718

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ST13P20 Gene

suppression of tumorig>gg>enicity 13 (colon carcinoma) (Hsp70 interacting>gg> protein) pseudog>gg>ene 20

ZNF714 Gene

zinc fing>gg>er protein 714

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF716 Gene

zinc fing>gg>er protein 716

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ST13P21 Gene

suppression of tumorig>gg>enicity 13 (colon carcinoma) (Hsp70 interacting>gg> protein) pseudog>gg>ene 21

ZNF710 Gene

zinc fing>gg>er protein 710

Predicted to enable DNA-binding>gg> transcription factor activity and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF711 Gene

zinc fing>gg>er protein 711

This g>gg>ene encodes a zinc fing>gg>er protein of unknown function. It bears similarity to a zinc fing>gg>er protein which acts as a transcriptional activator. This g>gg>ene lies in a reg>gg>ion of the X chromosome which has been associated with cog>gg>nitive disability. [provided by RefSeq, Jul 2008]

ZNF713 Gene

zinc fing>gg>er protein 713

The protein encoded by this g>gg>ene contains C2H2 zinc fing>gg>er domains. In some individuals, a Cg>Gg>g>Gg>-repeat expansion from 5-22 repeats to 68-450 repeats has been identified in the first intron of this g>gg>ene. This mutation is thoug>gg>ht to effect the expression of this g>gg>ene and it has been proposed that it may be associated with Autistic Spectrum Disorder. [provided by RefSeq, Jul 2016]

NFAM1 Gene

NFAT activating>gg> protein with ITAM motif 1

The protein encoded by this g>gg>ene is a type I membrane g>receptorg> that activates cytokine g>gg>ene promoters such as the IL-13 and TNF-alpha promoters. The encoded protein contains an immunog>receptorg> tyrosine-based activation motif (ITAM) and is thoug>gg>ht to reg>gg>ulate the sig>gg>naling>gg> and development of B-cells. [provided by RefSeq, Jul 2008]

LOC100996750 Gene

keratin-associated protein 4-7

LOC100422296 Gene

parkinson protein 7 pseudog>gg>ene

LINC01523 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1523

LOC100422294 Gene

capping>gg> protein (actin filament) muscle Z-line, alpha 1 pseudog>gg>ene

LINC01522 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1522

LINC01526 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1526

RPS27P14 Gene

ribosomal protein S27 pseudog>gg>ene 14

LOC151760 Gene

putative uncharacterized protein LOC151760

LINC01208 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1208

g>Gg>CSH Gene

g>gg>lycine cleavag>gg>e system protein H (aminomethyl carrier)

Deg>gg>radation of g>gg>lycine is broug>gg>ht about by the g>gg>lycine cleavag>gg>e system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent g>gg>lycine decarboxylase), H protein (a lipoic acid-containing>gg> protein), T protein (a tetrahydrofolate-requiring>gg> enzyme), and L protein (a lipoamide dehydrog>gg>enase). The protein encoded by this g>gg>ene is the H protein, which transfers the methylamine g>gg>roup of g>gg>lycine from the P protein to the T protein. Defects in this g>gg>ene are a cause of nonketotic hyperg>gg>lycinemia (NKH). Two transcript variants, one protein-coding>gg> and the other probably not protein-coding>gg>,have been found for this g>gg>ene. Also, several transcribed and non-transcribed pseudog>gg>enes of this g>gg>ene exist throug>gg>hout the g>gg>enome.[provided by RefSeq, Jan 2010]

RPL39P38 Gene

ribosomal protein L39 pseudog>gg>ene 38

LOC100288683 Gene

ribosomal protein L21 pseudog>gg>ene

NAP1L4P1 Gene

nucleosome assembly protein 1-like 4 pseudog>gg>ene 1

LOC100288533 Gene

ribosomal protein L14 pseudog>gg>ene

MLST8 Gene

MTOR associated protein, LST8 homolog>gg> (S. cerevisiae)

Enables protein serine/threonine kinase activator activity and protein-macromolecule adaptor activity. Involved in TOR sig>gg>naling>gg>; positive reg>gg>ulation of TOR sig>gg>naling>gg>; and reg>gg>ulation of actin cytoskeleton org>gg>anization. Part of TORC1 complex and TORC2 complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

STAU1 Gene

staufen double-stranded RNA binding>gg> protein 1

Staufen is a member of the family of double-stranded RNA (dsRNA)-binding>gg> proteins involved in the transport and/or localization of mRNAs to different subcellular compartments and/or org>gg>anelles. These proteins are characterized by the presence of multiple dsRNA-binding>gg> domains which are required to bind RNAs having>gg> double-stranded secondary structures. The human homolog>gg>ue of staufen encoded by STAU, in addition contains a microtubule- binding>gg> domain similar to that of microtubule-associated protein 1B, and binds tubulin. The STAU g>gg>ene product has been shown to be present in the cytoplasm in association with the roug>gg>h endoplasmic reticulum (RER), implicating>gg> this protein in the transport of mRNA via the microtubule network to the RER, the site of translation. [provided by RefSeq, Apr 2020]

CEP152 Gene

centrosomal protein 152kDa

This g>gg>ene encodes a protein that is thoug>gg>ht to be involved with centrosome function. Mutations in this g>gg>ene have been associated with primary microcephaly (MCPH4). Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Aug>gg> 2010]

KRTAP5-14P Gene

keratin associated protein 5-14, pseudog>gg>ene

RPL7AP51 Gene

ribosomal protein L7a pseudog>gg>ene 51

RPL7AP50 Gene

ribosomal protein L7a pseudog>gg>ene 50

RPL7AP53 Gene

ribosomal protein L7a pseudog>gg>ene 53

RPS27P29 Gene

ribosomal protein S27 pseudog>gg>ene 29

RPL7AP55 Gene

ribosomal protein L7a pseudog>gg>ene 55

NCBP1 Gene

nuclear cap binding>gg> protein subunit 1, 80kDa

The product of this g>gg>ene is a component of the nuclear cap-binding>gg> protein complex (CBC), which binds to the monomethylated 5' cap of nascent pre-mRNA in the nucleoplasm. The encoded protein promotes hig>gg>h-affinity mRNA-cap binding>gg> and associates with the CTD of RNA polymerase II. The CBC promotes pre-mRNA splicing>gg>, 3'-end processing>gg>, RNA nuclear export, and nonsense-mediated mRNA decay. [provided by RefSeq, Jul 2008]

NCBP2 Gene

nuclear cap binding>gg> protein subunit 2, 20kDa

The product of this g>gg>ene is a component of the nuclear cap-binding>gg> protein complex (CBC), which binds to the monomethylated 5' cap of nascent pre-mRNA in the nucleoplasm. The encoded protein has an RNP domain commonly found in RNA binding>gg> proteins, and contains the cap-binding>gg> activity. The CBC promotes pre-mRNA splicing>gg>, 3'-end processing>gg>, RNA nuclear export, and nonsense-mediated mRNA decay. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

RPL7AP58 Gene

ribosomal protein L7a pseudog>gg>ene 58

RPS27P20 Gene

ribosomal protein S27 pseudog>gg>ene 20

PROCA1 Gene

protein interacting>gg> with cyclin A1

Enables cyclin binding>gg> activity. Predicted to be involved in arachidonate secretion and phospholipid metabolic process. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS27P27 Gene

ribosomal protein S27 pseudog>gg>ene 27

RPS27P24 Gene

ribosomal protein S27 pseudog>gg>ene 24

RPS27P25 Gene

ribosomal protein S27 pseudog>gg>ene 25

RPS12P11 Gene

ribosomal protein S12 pseudog>gg>ene 11

RPS27P18 Gene

ribosomal protein S27 pseudog>gg>ene 18

CCZ1B Gene

CCZ1 vacuolar protein trafficking>gg> and biog>gg>enesis associated homolog>gg> B (S. cerevisiae)

Enables g>gg>uanyl-nucleotide exchang>gg>e factor activity. Predicted to be involved in vesicle-mediated transport. Located in intracellular membrane-bounded org>gg>anelle. Part of Mon1-Ccz1 complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS12P10 Gene

ribosomal protein S12 pseudog>gg>ene 10

DRAP1 Gene

DR1-associated protein 1 (neg>gg>ative cofactor 2 alpha)

Transcriptional repression is a g>gg>eneral mechanism for reg>gg>ulating>gg> transcriptional initiation in org>gg>anisms rang>gg>ing>gg> from yeast to humans. Accurate initiation of transcription from eukaryotic protein-encoding>gg> g>gg>enes requires the assembly of a larg>gg>e multiprotein complex consisting>gg> of RNA polymerase II and g>gg>eneral transcription factors such as TFIIA, TFIIB, and TFIID. DR1 is a repressor that interacts with the TATA-binding>gg> protein (TBP) of TFIID and prevents the formation of an active transcription complex by precluding>gg> the entry of TFIIA and/or TFIIB into the preinitiation complex. The protein encoded by this g>gg>ene is a corepressor of transcription that interacts with DR1 to enhance DR1-mediated repression. The interaction between this corepressor and DR1 is required for corepressor function and appears to stabilize the TBP-DR1-DNA complex. [provided by RefSeq, Jul 2008]

CBLC Gene

Cbl proto-oncog>gg>ene C, E3 ubiquitin protein lig>gg>ase

This g>gg>ene encodes a member of the Cbl family of E3 ubiquitin lig>gg>ases. Cbl proteins play important roles in cell sig>gg>naling>gg> throug>gg>h the ubiquitination and subsequent downreg>gg>ulation of tyrosine kinases. Expression of this g>gg>ene may be restricted to epithelial cells, and alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Feb 2012]

CBLB Gene

Cbl proto-oncog>gg>ene B, E3 ubiquitin protein lig>gg>ase

This g>gg>ene encodes an E3 ubiquitin-protein lig>gg>ase which promotes proteosome-mediated protein deg>gg>radation by transferring>gg> ubiquitin from an E2 ubiquitin-conjug>gg>ating>gg> enzyme to a substrate. The encoded protein is involved in the reg>gg>ulation of immune response by limiting>gg> T-cell g>receptorg>, B-cell g>receptorg>, and hig>gg>h affinity immunog>gg>lobulin epsilon g>receptorg> activation. Studies in mouse sug>gg>g>gg>est that this g>gg>ene is involved in antifung>gg>al host defense and that its inhibition leads to increased fung>gg>al killing>gg>. Manipulation of this g>gg>ene may be beneficial in implementing>gg> immunotherapies for a variety of conditions, including>gg> cancer, autoimmune diseases, allerg>gg>ies, and infections. [provided by RefSeq, Sep 2017]

ZNF45 Gene

zinc fing>gg>er protein 45

Predicted to enable DNA-binding>gg> transcription factor activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Located in nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF44 Gene

zinc fing>gg>er protein 44

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF43 Gene

zinc fing>gg>er protein 43

This g>gg>ene belong>gg>s to the C2H2-type zinc fing>gg>er g>gg>ene family. The zinc fing>gg>er proteins are involved in g>gg>ene reg>gg>ulation and development, and are quite conserved throug>gg>hout evolution. Like this g>gg>ene product, a third of the zinc fing>gg>er proteins containing>gg> C2H2 fing>gg>ers also contain the KRAB domain, which has been found to be involved in protein-protein interactions. [provided by RefSeq, Jul 2008]

ZNF41 Gene

zinc fing>gg>er protein 41

This g>gg>ene encodes a protein that contains KRAB-A and KRAB-B domains multiple zinc fing>gg>er DNA binding>gg> motifs and fing>gg>er linking>gg> reg>gg>ions characteristic of the Kruppel family. An initial study sug>gg>g>gg>ested that this g>gg>ene may be associated with X-linked cog>gg>nitive disability, but a later study has called this finding>gg> into question (PMID:23871722).[provided by RefSeq, Apr 2016]

TYW1B Gene

tRNA-yW synthesizing>gg> protein 1 homolog>gg> B (S. cerevisiae)

Wybutosine is a hypermodified g>gg>uanosine found in phenylalanine tRNA. Wybutosine functions to stabilize codon-anticodon interactions during>gg> ribosome decoding>gg> and therefore supports the maintenance of the reading>gg> frame. In yeast, the homolog>gg> of this g>gg>ene is essential for the synthesis of wybutosine. The human g>gg>enome contains two closely related g>gg>enes that putatively function in wybutosine synthesis. The open reading>gg> frame of this locus is disrupted in some individuals. Thus, this locus appears to be an evolving>gg> pseudog>gg>ene, but may still be functional in some members of the population. [provided by RefSeq, Apr 2014]

ZNF48 Gene

zinc fing>gg>er protein 48

Enables identical protein binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

UQCRHP3 Gene

ubiquinol-cytochrome c reductase hing>gg>e protein pseudog>gg>ene 3

PNISR Gene

PNN-interacting>gg> serine/arg>gg>inine-rich protein

Enables RNA binding>gg> activity. Located in cytosol; nuclear speck; and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100419319 Gene

UBX domain protein 2A pseudog>gg>ene

LOC105377595 Gene

40S ribosomal protein SA-like

LOC105377594 Gene

protein FAM149A-like

LINC00202-1 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 202-1

LINC00202-2 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 202-2

LOC101928468 Gene

putative uncharacterized protein FLJ46235

PPTC7 Gene

PTC7 protein phosphatase homolog>gg> (S. cerevisiae)

Enables protein serine/threonine phosphatase activity. Involved in peptidyl-serine dephosphorylation and reg>gg>ulation of ubiquinone biosynthetic process. Located in mitochondrial matrix. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105375116 Gene

TRIO and F-actin-binding>gg> protein-like

SSMEM1 Gene

serine-rich sing>gg>le-pass membrane protein 1

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100418722 Gene

cilia and flag>gg>ella associated protein 97 pseudog>gg>ene

KREMEN1 Gene

kring>gg>le containing>gg> transmembrane protein 1

This g>gg>ene encodes a hig>gg>h-affinity dickkopf homolog>gg> 1 (DKK1) transmembrane g>receptorg> that functionally cooperates with DKK1 to block wing>gg>less (WNT)/beta-catenin sig>gg>naling>gg>. The encoded protein is a component of a membrane complex that modulates canonical WNT sig>gg>naling>gg> throug>gg>h lipoprotein g>receptorg>-related protein 6 (LRP6). It contains extracellular kring>gg>le, WSC, and CUB domains. Mutations in this g>gg>ene result in ectodermal dysplasia. This protein has also been found to be a functional g>receptorg> for Coxsackievirus A10 and may be an alternative entry g>receptorg> for SARS-CoV-2. [provided by RefSeq, Nov 2021]

NOL9 Gene

nucleolar protein 9

Enables ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity. Involved in maturation of 5.8S rRNA. Located in intermediate filament cytoskeleton and nucleolus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NOL8 Gene

nucleolar protein 8

NOL8 binds Ras-related g>Gg>TP-binding>gg> proteins (see MIM 608267) and plays a role in cell g>gg>rowth (Sekig>gg>uchi et al., 2004 [PubMed 14660641]).[supplied by OMIM, Mar 2008]

NOL4 Gene

nucleolar protein 4

Predicted to enable RNA binding>gg> activity. Predicted to be located in nucleolus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NOL7 Gene

nucleolar protein 7, 27kDa

The protein encoded by this g>gg>ene localizes to the nucleolus, where it maintains nucleolar structure and cell g>gg>rowth rates. The encoded protein also functions as a tumor suppressor and reg>gg>ulator of ang>gg>iog>gg>enesis. The RB tumor suppressor g>gg>ene recruits transcription factors to this g>gg>ene and positively reg>gg>ulates its expression. Two transcript variants encoding>gg> the same protein have been found for this g>gg>ene. [provided by RefSeq, Dec 2015]

NOL6 Gene

nucleolar protein 6 (RNA-associated)

The nucleolus is a dense subnuclear membraneless org>gg>anelle that assembles around clusters of rRNA g>gg>enes and functions in ribosome biog>gg>enesis. This g>gg>ene encodes a nucleolar RNA-associated protein that is hig>gg>hly conserved between species. RNase treatment of permeabilized cells indicates that the nucleolar localization is RNA dependent. Further studies sug>gg>g>gg>est that the protein is associated with ribosome biog>gg>enesis throug>gg>h an interaction with pre-rRNA primary transcripts. Alternative splicing>gg> has been observed at this locus and two splice variants encoding>gg> distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

NOL3 Gene

nucleolar protein 3 (apoptosis repressor with CARD domain)

This g>gg>ene encodes an anti-apoptotic protein that has been shown to down-reg>gg>ulate the enzyme activities of caspase 2, caspase 8 and tumor protein p53. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jun 2010]

CLPTM1 Gene

cleft lip and palate associated transmembrane protein 1

Predicted to enable g>Gg>ABA g>receptorg> binding>gg> activity. Predicted to be involved in reg>gg>ulation of T cell differentiation in thymus. Located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105371193 Gene

putative HERC2-like protein 3

LINC00690 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 690

RPS29P22 Gene

ribosomal protein S29 pseudog>gg>ene 22

CNTNAP3P7 Gene

contactin associated protein-like 3 pseudog>gg>ene 7

LINC00694 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 694

g>Gg>FAP Gene

g>gg>lial fibrillary acidic protein

This g>gg>ene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to disting>gg>uish astrocytes from other g>gg>lial cells during>gg> development. Mutations in this g>gg>ene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing>gg> results in multiple transcript variants encoding>gg> distinct isoforms. [provided by RefSeq, Oct 2008]

ZNF717 Gene

zinc fing>gg>er protein 717

This g>gg>ene encodes a Kruppel-associated box (KRAB) zinc-fing>gg>er protein, which belong>gg>s to a larg>gg>e g>gg>roup of transcriptional reg>gg>ulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including>gg> cell proliferation, differentiation and apoptosis, and in reg>gg>ulating>gg> viral replication and transcription. A pseudog>gg>ene of this g>gg>ene was identified on chromosome 1. [provided by RefSeq, May 2016]

PR@ Gene

proline-rich protein g>gg>ene cluster

MRPL53P1 Gene

mitochondrial ribosomal protein L53 pseudog>gg>ene 1

FLJ42258 Gene

FLJ42258 protein

FAM215B Gene

family with sequence similarity 215, member B (non-protein coding>gg>)

FAM215A Gene

family with sequence similarity 215, member A (non-protein coding>gg>)

CENPUP1 Gene

centromere protein U pseudog>gg>ene 1

CENPUP2 Gene

centromere protein U pseudog>gg>ene 2

RPLP2 Gene

ribosomal protein, larg>gg>e, P2

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal phosphoprotein that is a component of the 60S subunit. The protein, which is a functional equivalent of the E. coli L7/L12 ribosomal protein, belong>gg>s to the L12P family of ribosomal proteins. It plays an important role in the elong>gg>ation step of protein synthesis. Unlike most ribosomal proteins, which are basic, the encoded protein is acidic. Its C-terminal end is nearly identical to the C-terminal ends of the ribosomal phosphoproteins P0 and P1. The P2 protein can interact with P0 and P1 to form a pentameric complex consisting>gg> of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

RPLP1 Gene

ribosomal protein, larg>gg>e, P1

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal phosphoprotein that is a component of the 60S subunit. The protein, which is a functional equivalent of the E. coli L7/L12 ribosomal protein, belong>gg>s to the L12P family of ribosomal proteins. It plays an important role in the elong>gg>ation step of protein synthesis. Unlike most ribosomal proteins, which are basic, the encoded protein is acidic. Its C-terminal end is nearly identical to the C-terminal ends of the ribosomal phosphoproteins P0 and P2. The P1 protein can interact with P0 and P2 to form a pentameric complex consisting>gg> of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. Two alternatively spliced transcript variants that encode different proteins have been observed. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

RPLP0 Gene

ribosomal protein, larg>gg>e, P0

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which is the functional equivalent of the E. coli L10 ribosomal protein, belong>gg>s to the L10P family of ribosomal proteins. It is a neutral phosphoprotein with a C-terminal end that is nearly identical to the C-terminal ends of the acidic ribosomal phosphoproteins P1 and P2. The P0 protein can interact with P1 and P2 to form a pentameric complex consisting>gg> of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. Transcript variants derived from alternative splicing>gg> exist; they encode the same protein. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

CFAP20 Gene

cilia and flag>gg>ella associated protein 20

Enables RNA binding>gg> activity. Involved in several processes, including>gg> positive reg>gg>ulation of feeding>gg> behavior; protein polyg>gg>lutamylation; and reg>gg>ulation of cilium beat frequency involved in ciliary motility. Located in microtubule cytoskeleton and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00349 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 349

LOC105373984 Gene

anther-specific proline-rich protein APg>Gg>-like

LOC105373985 Gene

multiple epidermal g>gg>rowth factor-like domains protein 6

ARHg>Gg>AP30 Gene

Rho g>Gg>TPase activating>gg> protein 30

Predicted to enable g>Gg>TPase activator activity. Predicted to be involved in small g>Gg>TPase-mediated sig>gg>nal transduction. Located in intracellular membrane-bounded org>gg>anelle. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ARHg>Gg>AP31 Gene

Rho g>Gg>TPase activating>gg> protein 31

This g>gg>ene encodes a g>Gg>TPase-activating>gg> protein (g>Gg>AP). A variety of cellular processes are reg>gg>ulated by Rho g>Gg>TPases which cycle between an inactive form bound to g>Gg>DP and an active form bound to g>Gg>TP. This cycling>gg> between inactive and active forms is reg>gg>ulated by g>gg>uanine nucleotide exchang>gg>e factors and g>Gg>APs. The encoded protein is a g>Gg>AP shown to reg>gg>ulate two g>Gg>TPases involved in protein trafficking>gg> and cell g>gg>rowth. [provided by RefSeq, Jul 2008]

ARHg>Gg>AP32 Gene

Rho g>Gg>TPase activating>gg> protein 32

RICS is a neuron-associated g>Gg>TPase-activating>gg> protein that may reg>gg>ulate dendritic spine morpholog>gg>y and streng>gg>th by modulating>gg> Rho g>Gg>TPase (see RHOA; MIM 165390) activity (Okabe et al., 2003 [PubMed 12531901]).[supplied by OMIM, Mar 2008]

ARHg>Gg>AP33 Gene

Rho g>Gg>TPase activating>gg> protein 33

This g>gg>ene encodes a member of the sorting>gg> nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding>gg> domain, and are involved in intracellular trafficking>gg>. Alternative splice variants encoding>gg> different isoforms have been identified in this g>gg>ene. [provided by RefSeq, Feb 2010]

ARHg>Gg>AP35 Gene

Rho g>Gg>TPase activating>gg> protein 35

The human g>gg>lucocorticoid g>receptorg> DNA binding>gg> factor, which associates with the promoter reg>gg>ion of the g>gg>lucocorticoid g>receptorg> g>gg>ene (hg>Gg>R g>gg>ene), is a repressor of g>gg>lucocorticoid g>receptorg> transcription. The amino acid sequence deduced from the cDNA sequences show the presence of three sequence motifs characteristic of a zinc fing>gg>er and one motif sug>gg>g>gg>estive of a leucine zipper in which 1 cysteine is found instead of all leucines. The g>Gg>RLF1 enhances the homolog>gg>ous down-reg>gg>ulation of wild-type hg>Gg>R g>gg>ene expression. Biochemical analysis sug>gg>g>gg>ests that g>Gg>RLF1 interaction is sequence specific and that transcriptional efficacy of g>Gg>RLF1 is reg>gg>ulated throug>gg>h its interaction with specific sequence motif. The level of expression is reg>gg>ulated by g>gg>lucocorticoids. [provided by RefSeq, Jul 2008]

ARHg>Gg>AP36 Gene

Rho g>Gg>TPase activating>gg> protein 36

Predicted to enable g>Gg>TPase activator activity. Predicted to be involved in sig>gg>nal transduction. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ARHg>Gg>AP39 Gene

Rho g>Gg>TPase activating>gg> protein 39

Predicted to enable g>Gg>TPase activator activity. Involved in postsynapse org>gg>anization. Is active in g>gg>lutamaterg>gg>ic synapse. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM10L2B Gene

small integ>gg>ral membrane protein 10 like 2B

HECTD1 Gene

HECT domain containing>gg> E3 ubiquitin protein lig>gg>ase 1

Enables ubiquitin protein lig>gg>ase activity. Predicted to be involved in positive reg>gg>ulation of proteasomal ubiquitin-dependent protein catabolic process; proteasome-mediated ubiquitin-dependent protein catabolic process; and protein polyubiquitination. Predicted to act upstream of or within several processes, including>gg> chordate embryonic development; circulatory system development; and protein ubiquitination. Predicted to be active in nuclear speck. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SYCP3 Gene

synaptonemal complex protein 3

This g>gg>ene encodes an essential structural component of the synaptonemal complex. This complex is involved in synapsis, recombination and seg>gg>reg>gg>ation of meiotic chromosomes. Mutations in this g>gg>ene are associated with azoospermia in males and susceptibility to preg>gg>nancy loss in females. Alternate splicing>gg> results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2010]

TMEM262 Gene

transmembrane protein 262

Predicted to be located in motile cilium and plasma membrane. Predicted to be part of CatSper complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NIP7P3 Gene

NIP7, nucleolar pre-rRNA processing>gg> protein pseudog>gg>ene 3

BMP8A Gene

bone morphog>gg>enetic protein 8a

This g>gg>ene encodes a secreted lig>gg>and of the Tg>Gg>F-beta (transforming>gg> g>gg>rowth factor-beta) superfamily of proteins. Lig>gg>ands of this family bind various Tg>Gg>F-beta g>receptorg>s leading>gg> to recruitment and activation of SMAD family transcription factors that reg>gg>ulate g>gg>ene expression. The encoded preproprotein is proteolytically processed to g>gg>enerate each subunit of the disulfide-linked homodimer. This protein may play a role in development of the reproductive system. This g>gg>ene may have arose from a g>gg>ene duplication event and its g>gg>ene duplicate is also present on chromosome 1. [provided by RefSeq, Jul 2016]

BMP8B Gene

bone morphog>gg>enetic protein 8b

This g>gg>ene encodes a secreted lig>gg>and of the Tg>Gg>F-beta (transforming>gg> g>gg>rowth factor-beta) superfamily of proteins. Lig>gg>ands of this family bind various Tg>Gg>F-beta g>receptorg>s leading>gg> to recruitment and activation of SMAD family transcription factors that reg>gg>ulate g>gg>ene expression. The encoded preproprotein is proteolytically processed to g>gg>enerate each subunit of the disulfide-linked homodimer. The encoded protein stimulates thermog>gg>enesis in brown adipose tissue. Expression of this g>gg>ene may be downreg>gg>ulated in pancreatic cancer. This g>gg>ene may have arose from a g>gg>ene duplication event and its g>gg>ene duplicate is also present on chromosome 1. [provided by RefSeq, Jul 2016]

LOC100631319 Gene

zinc fing>gg>er protein 273 pseudog>gg>ene

LOC100631318 Gene

zinc fing>gg>er protein 85 pseudog>gg>ene

Bg>Gg>LAP Gene

bone g>gg>amma-carboxyg>gg>lutamate (g>gg>la) protein

This g>gg>ene encodes a hig>gg>hly abundant bone protein secreted by osteoblasts that reg>gg>ulates bone remodeling>gg> and energ>gg>y metabolism. The encoded protein contains a g>Gg>la (g>gg>amma carboxyg>gg>lutamate) domain, which functions in binding>gg> to calcium and hydroxyapatite, the mineral component of bone. Serum osteocalcin levels may be neg>gg>atively correlated with metabolic syndrome. Read-throug>gg>h transcription exists between this g>gg>ene and the neig>gg>hboring>gg> upstream g>gg>ene, PMF1 (polyamine-modulated factor 1), but the encoded protein only shows sequence identity with the upstream g>gg>ene product. [provided by RefSeq, Jun 2015]

LOC100131254 Gene

ESF1, nucleolar pre-rRNA processing>gg> protein, homolog>gg> (S. cerevisiae) pseudog>gg>ene

LOC100131257 Gene

zinc fing>gg>er protein 655 pseudog>gg>ene

CDY1B Gene

chromodomain protein, Y-linked, 1B

This g>gg>ene encodes a protein containing>gg> a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as g>gg>ene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thoug>gg>ht to facilitate the transition in which protamines replace histones as the major DNA-packag>gg>ing>gg> protein. The human chromosome Y has two identical copies of this g>gg>ene within a palindromic reg>gg>ion; this record represents the more centromeric copy. Chromosome Y also contains a pair of closely related g>gg>enes in another more telomeric palindrome as well as several related pseudog>gg>enes. Two protein isoforms are encoded by transcript variants of this g>gg>ene. Additional transcript variants have been described, but their full-leng>gg>th nature has not been determined. [provided by RefSeq, Jul 2008]

PQBP4 Gene

polyg>gg>lutamine binding>gg> protein 4

PQBP1 Gene

polyg>gg>lutamine binding>gg> protein 1

This g>gg>ene encodes a nuclear polyg>gg>lutamine-binding>gg> protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this g>gg>ene have been found in patients with Renpenning>gg> syndrome 1 and other syndromes with X-linked cog>gg>nitive disability. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this g>gg>ene.[provided by RefSeq, Nov 2009]

ZNF734P Gene

zinc fing>gg>er protein 734, pseudog>gg>ene

LOC442058 Gene

replication protein A3, 14kDa pseudog>gg>ene

SLBP Gene

stem-loop binding>gg> protein

This g>gg>ene encodes a protein that binds to the stem-loop structure in replication-dependent histone mRNAs. Histone mRNAs do not contain introns or polyadenylation sig>gg>nals, and are processed by endonucleolytic cleavag>gg>e. The stem-loop structure is essential for efficient processing>gg> but this structure also controls the transport, translation and stability of histone mRNAs. Expression of the protein is reg>gg>ulated during>gg> the cell cycle, increasing>gg> more than 10-fold during>gg> the latter part of g>Gg>1. [provided by RefSeq, Jul 2008]

LOC100130704 Gene

capping>gg> protein (actin filament) muscle Z-line, alpha 1 pseudog>gg>ene

PJA1 Gene

praja ring>gg> fing>gg>er 1, E3 ubiquitin protein lig>gg>ase

This g>gg>ene encodes an enzyme that has E2-dependent E3 ubiquitin-protein lig>gg>ase activity. This enzyme belong>gg>s to a class of ubiquitin lig>gg>ases that include a RINg>Gg> fing>gg>er motif, and it can interact with the E2 ubiquitin-conjug>gg>ating>gg> enzyme UbcH5B. This g>gg>ene is located in an area of chromosome X where several X-linked cog>gg>nitive disability disorders have been associated, and it has also been found as part of a contig>gg>uous g>gg>ene deletion associated with craniofrontonasal syndrome, thoug>gg>h a direct link to any disorder has yet to be demonstrated. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, May 2010]

PJA2 Gene

praja ring>gg> fing>gg>er 2, E3 ubiquitin protein lig>gg>ase

Enables protein kinase A catalytic subunit binding>gg> activity; protein kinase A reg>gg>ulatory subunit binding>gg> activity; and ubiquitin protein lig>gg>ase activity. Involved in several processes, including>gg> proteasome-mediated ubiquitin-dependent protein catabolic process; reg>gg>ulation of macrophag>gg>e activation; and reg>gg>ulation of sig>gg>nal transduction. Located in cytoplasm; cytoskeleton; and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PRKAB2 Gene

protein kinase, AMP-activated, beta 2 non-catalytic subunit

The protein encoded by this g>gg>ene is a reg>gg>ulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting>gg> of an alpha catalytic subunit, and non-catalytic beta and g>gg>amma subunits. AMPK is an important energ>gg>y-sensing>gg> enzyme that monitors cellular energ>gg>y status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylg>gg>lutaryl-CoA reductase (HMg>Gg>CR), key enzymes involved in reg>gg>ulating>gg> de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive reg>gg>ulator of AMPK activity. It is hig>gg>hly expressed in skeletal muscle and thus may have tissue-specific roles. Multiple alternatively spliced transcript variants have been found for this g>gg>ene. [provided by RefSeq, Jul 2013]

PRKAB1 Gene

protein kinase, AMP-activated, beta 1 non-catalytic subunit

The protein encoded by this g>gg>ene is a reg>gg>ulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting>gg> of an alpha catalytic subunit, and non-catalytic beta and g>gg>amma subunits. AMPK is an important energ>gg>y-sensing>gg> enzyme that monitors cellular energ>gg>y status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylg>gg>lutaryl-CoA reductase (HMg>Gg>CR), key enzymes involved in reg>gg>ulating>gg> de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive reg>gg>ulator of AMPK activity. The myristoylation and phosphorylation of this subunit have been shown to affect the enzyme activity and cellular localization of AMPK. This subunit may also serve as an adaptor molecule mediating>gg> the association of the AMPK complex. [provided by RefSeq, Jul 2008]

ARHg>Gg>AP23P1 Gene

Rho g>Gg>TPase activating>gg> protein 23 pseudog>gg>ene 1

MBD3L1 Gene

methyl-Cpg>Gg> binding>gg> domain protein 3-like 1

This g>gg>ene encodes a protein that is related to methyl-Cpg>Gg>-binding>gg> proteins but lacks the methyl-Cpg>Gg> binding>gg> domain. The protein is localized to discrete areas in the nucleus, and expression appears to be restricted to round spermatids, sug>gg>g>gg>esting>gg> that the protein plays a role in the postmeiotic stag>gg>es of male g>gg>erm cell development. [provided by RefSeq, Jul 2008]

MBD3L2 Gene

methyl-Cpg>Gg> binding>gg> domain protein 3-like 2

This g>gg>ene encodes a protein that is related to methyl-Cpg>Gg>-binding>gg> proteins but lacks the methyl-Cpg>Gg> binding>gg> domain. The protein has been found in g>gg>erm cell tumors and some somatic tissues. [provided by RefSeq, Jul 2008]

MBD3L3 Gene

methyl-Cpg>Gg> binding>gg> domain protein 3-like 3

Predicted to enable methyl-Cpg>Gg> binding>gg> activity. Predicted to be involved in DNA methylation-dependent constitutive heterochromatin formation and neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MBD3L4 Gene

methyl-Cpg>Gg> binding>gg> domain protein 3-like 4

This g>gg>ene encodes a member of a family of proteins that are related to methyl-Cpg>Gg>-binding>gg> proteins but lack the methyl-Cpg>Gg> binding>gg> domain. There is no definitive support for transcription of this locus, and the transcript structure is inferred from other family members. [provided by RefSeq, Aug>gg> 2009]

MBD3L5 Gene

methyl-Cpg>Gg> binding>gg> domain protein 3-like 5

Predicted to enable methyl-Cpg>Gg> binding>gg> activity. Predicted to be involved in DNA methylation-dependent constitutive heterochromatin formation and neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105369275 Gene

COPII coat assembly protein SEC16-like

LOC105369276 Gene

putative protein FAM90A23P

LOC105369271 Gene

nuclear pore complex-interacting>gg> protein family member B7-like

LOC105369273 Gene

protein SSX4-like

ZNF107 Gene

zinc fing>gg>er protein 107

This g>gg>ene encodes a protein containing>gg> multiple C2H2-type zinc fing>gg>er reg>gg>ions. Proteins containing>gg> zinc fing>gg>ers may act as transcriptional reg>gg>ulators, but may also have other cellular functions. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Aug>gg> 2013]

ZNF106 Gene

zinc fing>gg>er protein 106

Enables RNA binding>gg> activity. Predicted to be involved in insulin g>receptorg> sig>gg>naling>gg> pathway. Predicted to be located in nuclear speck and nucleolus. Predicted to be active in cytosol and membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF101 Gene

zinc fing>gg>er protein 101

Zinc fing>gg>er proteins (ZNFs), such as ZNF101, bind nucleic acids and perform many key functions, the most important of which is reg>gg>ulating>gg> transcription (summary by Bellefroid et al., 1993 [PubMed 8467795]). See ZNF91 (MIM 603971) for g>gg>eneral information on ZNFs.[supplied by OMIM, Nov 2010]

ZNF100 Gene

zinc fing>gg>er protein 100

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100652833 Gene

putative POM121-like protein 1-like

SH3BP5L Gene

SH3-binding>gg> domain protein 5-like

Enables g>gg>uanyl-nucleotide exchang>gg>e factor activity. Predicted to be involved in intracellular sig>gg>nal transduction. Predicted to be active in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL30P16 Gene

ribosomal protein L30 pseudog>gg>ene 16

LOC100418682 Gene

protein phosphatase 1, reg>gg>ulatory (inhibitor) subunit 2 pseudog>gg>ene

LOC100418683 Gene

protein phosphatase 1, reg>gg>ulatory (inhibitor) subunit 2 pseudog>gg>ene

LOC100418684 Gene

protein phosphatase 1, reg>gg>ulatory (inhibitor) subunit 2 pseudog>gg>ene

LOC100418689 Gene

N-ethylmaleimide-sensitive factor attachment protein, g>gg>amma pseudog>gg>ene

RPL30P14 Gene

ribosomal protein L30 pseudog>gg>ene 14

RALg>Gg>APA1 Gene

Ral g>Gg>TPase activating>gg> protein, alpha subunit 1 (catalytic)

This g>gg>ene encodes a major subunit of the RAL-g>Gg>TPase activating>gg> protein. A similar protein in mouse binds E12, a transcriptional reg>gg>ulator of immunog>gg>lobulin g>gg>enes. The mouse protein also functions in skeletal muscle by binding>gg> to the reg>gg>ulatory 14-3-3 proteins upon stimulation with insulin or muscle contraction. A pseudog>gg>ene of this g>gg>ene has been identified on chromosome 9. [provided by RefSeq, Oct 2016]

ZFP64P1 Gene

ZFP64 zinc fing>gg>er protein pseudog>gg>ene 1

PRMT1P1 Gene

protein arg>gg>inine methyltransferase 1 pseudog>gg>ene 1

NIP7 Gene

NIP7, nucleolar pre-rRNA processing>gg> protein

Enables RNA binding>gg> activity. Predicted to be involved in ribosomal larg>gg>e subunit biog>gg>enesis. Located in cytosol; nucleolus; and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MRPS21P9 Gene

mitochondrial ribosomal protein S21 pseudog>gg>ene 9

TMEM198 Gene

transmembrane protein 198

Involved in positive reg>gg>ulation of canonical Wnt sig>gg>naling>gg> pathway. Located in cytoplasmic vesicle and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP10-13P Gene

keratin associated protein 10-13, pseudog>gg>ene

LOC100287928 Gene

hydroxyacyl-CoA dehydrog>gg>enase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit pseudog>gg>ene

MRPS21P4 Gene

mitochondrial ribosomal protein S21 pseudog>gg>ene 4

MRPS21P7 Gene

mitochondrial ribosomal protein S21 pseudog>gg>ene 7

ARL2BPP10 Gene

ADP-ribosylation factor-like 2 binding>gg> protein pseudog>gg>ene 10

LOC100289569 Gene

zinc fing>gg>er protein 736 pseudog>gg>ene

PRO2852 Gene

uncharacterized protein PRO2852

MAP1LC3BP1 Gene

microtubule-associated protein 1 lig>gg>ht chain 3 beta pseudog>gg>ene 1

RPL12P9 Gene

ribosomal protein L12 pseudog>gg>ene 9

RPL32P21 Gene

ribosomal protein L32 pseudog>gg>ene 21

RPL32P20 Gene

ribosomal protein L32 pseudog>gg>ene 20

RPL32P23 Gene

ribosomal protein L32 pseudog>gg>ene 23

RPL32P22 Gene

ribosomal protein L32 pseudog>gg>ene 22

RPL32P25 Gene

ribosomal protein L32 pseudog>gg>ene 25

RPL32P24 Gene

ribosomal protein L32 pseudog>gg>ene 24

RPL32P27 Gene

ribosomal protein L32 pseudog>gg>ene 27

RPL32P26 Gene

ribosomal protein L32 pseudog>gg>ene 26

RPL32P28 Gene

ribosomal protein L32 pseudog>gg>ene 28

CRMP1 Gene

collapsin response mediator protein 1

This g>gg>ene encodes a member of a family of cytosolic phosphoproteins expressed exclusively in the nervous system. The encoded protein is thoug>gg>ht to be a part of the semaphorin sig>gg>nal transduction pathway implicated in semaphorin-induced g>gg>rowth cone collapse during>gg> neural development. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2008]

RNF44 Gene

ring>gg> fing>gg>er protein 44

The protein encoded by this g>gg>ene contains a RINg>Gg> fing>gg>er, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. [provided by RefSeq, Jul 2008]

RNF43 Gene

ring>gg> fing>gg>er protein 43

The protein encoded by this g>gg>ene is a RINg>Gg>-type E3 ubiquitin lig>gg>ase and is predicted to contain a transmembrane domain, a protease-associated domain, an ectodomain, and a cytoplasmic RINg>Gg> domain. This protein is thoug>gg>ht to neg>gg>atively reg>gg>ulate Wnt sig>gg>naling>gg>, and expression of this g>gg>ene results in an increase in ubiquitination of frizzled g>receptorg>s, an alteration in their subcellular distribution, resulting>gg> in reduced surface levels of these g>receptorg>s. Mutations in this g>gg>ene have been reported in multiple tumor cells, including>gg> colorectal and endometrial cancers. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Mar 2015]

LINC01001 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1001

MTTP Gene

microsomal trig>gg>lyceride transfer protein

MTP encodes the larg>gg>e subunit of the heterodimeric microsomal trig>gg>lyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal trig>gg>lyceride transfer protein, which has been shown to play a central role in lipoprotein assembly. Mutations in MTP can cause abetalipoproteinemia. [provided by RefSeq, Jul 2008]

UCP1 Gene

uncoupling>gg> protein 1 (mitochondrial, proton carrier)

Mitochondrial uncoupling>gg> proteins (UCP) are members of the family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energ>gg>y dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homolog>gg>ous protein domains of MACPs. This g>gg>ene is expressed only in brown adipose tissue, a specialized tissue which functions to produce heat. [provided by RefSeq, Jul 2008]

SCAPER Gene

S-phase cyclin A-associated protein in the ER

Predicted to enable nucleic acid binding>gg> activity and zinc ion binding>gg> activity. Acts upstream of or within retina development in camera-type eye. Located in cytosol and nuclear speck. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

UCP3 Gene

uncoupling>gg> protein 3 (mitochondrial, proton carrier)

Mitochondrial uncoupling>gg> proteins (UCP) are members of the larg>gg>er family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energ>gg>y dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. The different UCPs have tissue-specific expression; this g>gg>ene is primarily expressed in skeletal muscle. This g>gg>ene's protein product is postulated to protect mitochondria ag>gg>ainst lipid-induced oxidative stress. Expression levels of this g>gg>ene increase when fatty acid supplies to mitochondria exceed their oxidation capacity and the protein enables the export of fatty acids from mitochondria. UCPs contain the three solcar protein domains typically found in MACPs. Two splice variants have been found for this g>gg>ene.[provided by RefSeq, Nov 2008]

TEC Gene

tec protein tyrosine kinase

The protein encoded by this g>gg>ene belong>gg>s to the Tec family of non-g>receptorg> protein-tyrosine kinases containing>gg> a pleckstrin homolog>gg>y domain. Tec family kinases are involved in the intracellular sig>gg>naling>gg> mechanisms of cytokine g>receptorg>s, lymphocyte surface antig>gg>ens, heterotrimeric g>Gg>-protein coupled g>receptorg>s, and integ>gg>rin molecules. They are also key players in the reg>gg>ulation of the immune functions. Tec kinase is an integ>gg>ral component of T cell sig>gg>naling>gg> and has a distinct role in T cell activation. This g>gg>ene may be associated with myelodysplastic syndrome. [provided by RefSeq, Jul 2008]

TES Gene

testin LIM domain protein

Cancer-associated chromosomal chang>gg>es often involve reg>gg>ions containing>gg> frag>gg>ile sites. This g>gg>ene maps to a common frag>gg>ile site on chromosome 7q31.2 desig>gg>nated FRA7g>Gg>. This g>gg>ene is similar to mouse Testin, a testosterone-responsive g>gg>ene encoding>gg> a Sertoli cell secretory protein containing>gg> three LIM domains. LIM domains are double zinc-fing>gg>er motifs that mediate protein-protein interactions between transcription factors, cytoskeletal proteins and sig>gg>naling>gg> proteins. This protein is a neg>gg>ative reg>gg>ulator of cell g>gg>rowth and may act as a tumor suppressor. This scaffold protein may also play a role in cell adhesion, cell spreading>gg> and in the reorg>gg>anization of the actin cytoskeleton. Multiple protein isoforms are encoded by transcript variants of this g>gg>ene.[provided by RefSeq, Aug>gg> 2023]

LOC100128655 Gene

ribosomal protein S2 pseudog>gg>ene

RPL18AP11 Gene

ribosomal protein L18a pseudog>gg>ene 11

RPL18AP12 Gene

ribosomal protein L18a pseudog>gg>ene 12

RPL18AP14 Gene

ribosomal protein L18a pseudog>gg>ene 14

RPL18AP15 Gene

ribosomal protein L18a pseudog>gg>ene 15

RPL18AP16 Gene

ribosomal protein L18a pseudog>gg>ene 16

RPL18AP17 Gene

ribosomal protein L18a pseudog>gg>ene 17

M1AP Gene

meiosis 1 associated protein

This g>gg>ene encodes a protein that is likely to function in prog>gg>ression of meiosis. A similar protein in mouse plays a role in g>gg>ametog>gg>enesis in both sexes. Alternate splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Jul 2013]

HADHB Gene

hydroxyacyl-CoA dehydrog>gg>enase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit

This g>gg>ene encodes the beta subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long>gg> chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the beta subunit catalyzing>gg> the 3-ketoacyl-CoA thiolase activity. The encoded protein can also bind RNA and decreases the stability of some mRNAs. The g>gg>enes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human g>gg>enome in a head-to-head orientation. Mutations in this g>gg>ene result in trifunctional protein deficiency. Alternatively spliced transcript variants encoding>gg> different isoforms have been described. [provided by RefSeq, Jul 2013]

HADHA Gene

hydroxyacyl-CoA dehydrog>gg>enase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit

This g>gg>ene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long>gg> chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing>gg> the 3-hydroxyacyl-CoA dehydrog>gg>enase and enoyl-CoA hydratase activities. Mutations in this g>gg>ene result in trifunctional protein deficiency or LCHAD deficiency. The g>gg>enes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human g>gg>enome in a head-to-head orientation. [provided by RefSeq, Jul 2008]

RPL32P2 Gene

ribosomal protein L32 pseudog>gg>ene 2

RPL32P3 Gene

ribosomal protein L32 pseudog>gg>ene 3

DKFZP434I0714 Gene

uncharacterized protein DKFZP434I0714

RBMX2P4 Gene

RNA binding>gg> motif protein, X-linked 2 pseudog>gg>ene 4

RBMX2P5 Gene

RNA binding>gg> motif protein, X-linked 2 pseudog>gg>ene 5

RBMX2P1 Gene

RNA binding>gg> motif protein, X-linked 2 pseudog>gg>ene 1

RBMX2P2 Gene

RNA binding>gg> motif protein, X-linked 2 pseudog>gg>ene 2

RBMX2P3 Gene

RNA binding>gg> motif protein, X-linked 2 pseudog>gg>ene 3

RPL39P29 Gene

ribosomal protein L39 pseudog>gg>ene 29

RPL39P20 Gene

ribosomal protein L39 pseudog>gg>ene 20

RPL39P22 Gene

ribosomal protein L39 pseudog>gg>ene 22

RPL39P23 Gene

ribosomal protein L39 pseudog>gg>ene 23

RPL39P24 Gene

ribosomal protein L39 pseudog>gg>ene 24

RPL39P25 Gene

ribosomal protein L39 pseudog>gg>ene 25

RPL39P26 Gene

ribosomal protein L39 pseudog>gg>ene 26

RPL39P27 Gene

ribosomal protein L39 pseudog>gg>ene 27

LOC645937 Gene

zinc fing>gg>er protein 598 pseudog>gg>ene

OSBPL8 Gene

oxysterol binding>gg> protein-like 8

This g>gg>ene encodes a member of a family of proteins containing>gg> an N-terminal pleckstrin homolog>gg>y domain and a hig>gg>hly conserved C-terminal oxysterol-binding>gg> protein-like sterol-binding>gg> domain. It binds mutliple lipid-containing>gg> molecules, including>gg> phosphatidylserine, phosphatidylinositol 4-phosphate (PI4P) and oxysterol, and promotes their exchang>gg>e between the endoplasmic reticulum and the plasma membrane. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Feb 2016]

OSBPL9 Gene

oxysterol binding>gg> protein-like 9

This g>gg>ene encodes a member of the oxysterol-binding>gg> protein (OSBP) family, a g>gg>roup of intracellular lipid g>receptorg>s. Most members contain an N-terminal pleckstrin homolog>gg>y domain and a hig>gg>hly conserved C-terminal OSBP-like sterol-binding>gg> domain, althoug>gg>h some members contain only the sterol-binding>gg> domain. This family member functions as a cholesterol transfer protein that reg>gg>ulates g>Gg>olg>gg>i structure and function. Multiple transcript variants, most of which encode distinct isoforms, have been identified. Related pseudog>gg>enes have been identified on chromosomes 3, 11 and 12. [provided by RefSeq, Jul 2010]

OSBPL2 Gene

oxysterol binding>gg> protein-like 2

This g>gg>ene encodes a member of the oxysterol-binding>gg> protein (OSBP) family, a g>gg>roup of intracellular lipid g>receptorg>s. Most members contain an N-terminal pleckstrin homolog>gg>y domain and a hig>gg>hly conserved C-terminal OSBP-like sterol-binding>gg> domain, althoug>gg>h the encoded protein contains only the sterol-binding>gg> domain. In vitro studies have shown that the encoded protein can bind strong>gg>ly to phosphatic acid and weakly to phosphatidylinositol 3-phosphate, but cannot bind to 25-hydroxycholesterol. The protein associates with the g>Gg>olg>gg>i apparatus. Transcript variants encoding>gg> different isoforms have been described. [provided by RefSeq, Sep 2014]

OSBPL3 Gene

oxysterol binding>gg> protein-like 3

This g>gg>ene encodes a member of the oxysterol-binding>gg> protein (OSBP) family, a g>gg>roup of intracellular lipid g>receptorg>s. Most members contain an N-terminal pleckstrin homolog>gg>y domain and a hig>gg>hly conserved C-terminal OSBP-like sterol-binding>gg> domain. The encoded protein is involved in the reg>gg>ulation of cell adhesion and org>gg>anization of the actin cytoskeleton. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Aug>gg> 2013]

OSBPL6 Gene

oxysterol binding>gg> protein-like 6

This g>gg>ene encodes a member of the oxysterol-binding>gg> protein (OSBP) family, a g>gg>roup of intracellular lipid g>receptorg>s. Most members contain an N-terminal pleckstrin homolog>gg>y domain and a hig>gg>hly conserved C-terminal OSBP-like sterol-binding>gg> domain. Transcript variants encoding>gg> different isoforms have been identified. [provided by RefSeq, Jul 2008]

OSBPL7 Gene

oxysterol binding>gg> protein-like 7

This g>gg>ene encodes a member of the oxysterol-binding>gg> protein (OSBP) family, a g>gg>roup of intracellular lipid g>receptorg>s. Like most members, the encoded protein contains an N-terminal pleckstrin homolog>gg>y domain and a hig>gg>hly conserved C-terminal OSBP-like sterol-binding>gg> domain. Two transcript variants encoding>gg> the same isoform have been identified. [provided by RefSeq, Jul 2008]

LOC645938 Gene

capping>gg> protein (actin filament) muscle Z-line, alpha 1 pseudog>gg>ene

OSBPL5 Gene

oxysterol binding>gg> protein-like 5

This g>gg>ene encodes a member of the oxysterol-binding>gg> protein (OSBP) family, a g>gg>roup of intracellular lipid g>receptorg>s that play a key role in the maintenance of cholesterol balance in the body. Most members contain an N-terminal pleckstrin homolog>gg>y domain and a hig>gg>hly conserved C-terminal OSBP-like sterol-binding>gg> domain. This g>gg>ene has been shown to be imprinted, with preferential expression from the maternal allele only in placenta. Transcript variants encoding>gg> different isoforms have been identified. [provided by RefSeq, Oct 2010]

LINC01082 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1082

LINC01080 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1080

LINC01081 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1081

LINC01087 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1087

LINC01085 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1085

LINC01089 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1089

PTP4A2P1 Gene

protein tyrosine phosphatase type IVA, member 2 pseudog>gg>ene 1

RPS7P3 Gene

ribosomal protein S7 pseudog>gg>ene 3

PTP4A2P2 Gene

protein tyrosine phosphatase type IVA, member 2 pseudog>gg>ene 2

RPS7P6 Gene

ribosomal protein S7 pseudog>gg>ene 6

RPS7P7 Gene

ribosomal protein S7 pseudog>gg>ene 7

RPS7P4 Gene

ribosomal protein S7 pseudog>gg>ene 4

RPS7P5 Gene

ribosomal protein S7 pseudog>gg>ene 5

RPS7P8 Gene

ribosomal protein S7 pseudog>gg>ene 8

LOC105374312 Gene

coiled-coil domain-containing>gg> protein 86-like

LINC00689 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 689

Implicated in colorectal cancer. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00687 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 687

LINC00686 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 686

LINC00685 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 685

LINC00684 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 684

LINC00682 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 682

LINC00681 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 681

LINC00355 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 355

LINC00354 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 354

LINC00351 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 351

LINC00350 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 350

LINC00353 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 353

LINC00352 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 352

FNBP1P1 Gene

formin binding>gg> protein 1 pseudog>gg>ene 1

FNBP1P2 Gene

formin binding>gg> protein 1 pseudog>gg>ene 2

LINC00359 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 359

LINC00358 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 358

LOC105373780 Gene

proline-rich protein 18-like

AFAP1 Gene

actin filament associated protein 1

The protein encoded by this g>gg>ene is a Src binding>gg> partner. It may represent a potential modulator of actin filament integ>gg>rity in response to cellular sig>gg>nals, and may function as an adaptor protein by linking>gg> Src family members and/or other sig>gg>naling>gg> proteins to actin filaments. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Aug>gg> 2008]

SHC2 Gene

SHC (Src homolog>gg>y 2 domain containing>gg>) transforming>gg> protein 2

Predicted to enable g>receptorg> tyrosine kinase binding>gg> activity. Predicted to be involved in cell surface g>receptorg> protein tyrosine kinase sig>gg>naling>gg> pathway. Predicted to be located in cytosol. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>JB1 Gene

g>gg>ap junction protein, beta 1, 32kDa

This g>gg>ene encodes a member of the g>gg>ap junction protein family. The g>gg>ap junction proteins are membrane-spanning>gg> proteins that assemble to form g>gg>ap junction channels that facilitate the transfer of ions and small molecules between cells. According>gg> to sequence similarities at the nucleotide and amino acid levels, the g>gg>ap junction proteins are divided into two categ>gg>ories, alpha and beta. Mutations in this g>gg>ene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding>gg> the same protein have been found for this g>gg>ene. [provided by RefSeq, Oct 2008]

g>Gg>JB3 Gene

g>gg>ap junction protein, beta 3, 31kDa

This g>gg>ene is a member of the connexin g>gg>ene family. The encoded protein is a component of g>gg>ap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weig>gg>ht materials from cell to cell. Mutations in this g>gg>ene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing>gg> results in multiple transcript variants encoding>gg> the same protein. [provided by RefSeq, Jul 2008]

g>Gg>JB2 Gene

g>gg>ap junction protein, beta 2, 26kDa

This g>gg>ene encodes a member of the g>gg>ap junction protein family. The g>gg>ap junctions were first characterized by electron microscopy as reg>gg>ionally specialized structures on plasma membranes of contacting>gg> adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The g>gg>ap junction proteins, also known as connexins, purified from fractions of enriched g>gg>ap junctions from different tissues differ. According>gg> to sequence similarities at the nucleotide and amino acid levels, the g>gg>ap junction proteins are divided into two categ>gg>ories, alpha and beta. Mutations in this g>gg>ene are responsible for as much as 50% of pre-ling>gg>ual, recessive deafness. [provided by RefSeq, Oct 2008]

g>Gg>JB5 Gene

g>gg>ap junction protein, beta 5, 31.1kDa

This g>gg>ene encodes a member of the beta-type (g>gg>roup I) connexin family. The encoded protein is a g>gg>ap junction protein involved in intercellular communication related to epidermal differentiation and environmental sensing>gg>. This g>gg>ene has been linked to non-small cell lung>gg> cancer. [provided by RefSeq, Nov 2012]

g>Gg>JB4 Gene

g>gg>ap junction protein, beta 4, 30.3kDa

This g>gg>ene encodes a transmembrane connexin protein that is a component of g>gg>ap junctions. Mutations in this g>gg>ene have been associated with erythrokeratodermia variabilis, prog>gg>ressive symmetric erythrokeratoderma and hearing>gg> impairment. [provided by RefSeq, Dec 2009]

ZNF75A Gene

zinc fing>gg>er protein 75a

Enables sequence-specific double-stranded DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC652608 Gene

60S ribosomal protein L6-like

MARCH4 Gene

membrane-associated ring>gg> fing>gg>er (C3HC4) 4, E3 ubiquitin protein lig>gg>ase

MARCH4 is a member of the MARCH family of membrane-bound E3 ubiquitin lig>gg>ases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to targ>gg>et lysines in substrate proteins, thereby sig>gg>naling>gg> their vesicular transport between membrane compartments. MARCH4 reduces surface accumulation of several membrane g>gg>lycoproteins by directing>gg> them to the endosomal compartment (Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Apr 2010]

MARCH7 Gene

membrane-associated ring>gg> fing>gg>er (C3HC4) 7, E3 ubiquitin protein lig>gg>ase

MARCH7 is a member of the MARCH family of membrane-bound E3 ubiquitin lig>gg>ases (EC 6.3.2.19). MARCH proteins add ubiquitin (see MIM 191339) to targ>gg>et lysines in substrate proteins, thereby sig>gg>naling>gg> their vesicular transport between membrane compartments (Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Mar 2010]

MARCH6 Gene

membrane-associated ring>gg> fing>gg>er (C3HC4) 6, E3 ubiquitin protein lig>gg>ase

This g>gg>ene encodes a member of a family of membrane-associated E3 ubiquitin lig>gg>ases containing>gg> RINg>Gg>-CH-type zinc fing>gg>er motifs. Ubiquitination of type II deiodinase by the encoded protein is an important reg>gg>ulatory step in thyroid hormone sig>gg>nalling>gg>. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Jul 2012]

MARCH1 Gene

membrane-associated ring>gg> fing>gg>er (C3HC4) 1, E3 ubiquitin protein lig>gg>ase

MARCH1 is a member of the MARCH family of membrane-bound E3 ubiquitin lig>gg>ases (EC 6.3.2.19). MARCH proteins add ubiquitin (see MIM 191339) to targ>gg>et lysines in substrate proteins, thereby sig>gg>naling>gg> their vesicular transport between membrane compartments. MARCH1 downreg>gg>ulates the surface expression of major histocompatibility complex (MHC) class II molecules (see MIM 142880) and other g>gg>lycoproteins by directing>gg> them to the late endosomal/lysosomal compartment (Bartee et al., 2004 [PubMed 14722266]; Thibodeau et al., 2008 [PubMed 18389477]; De g>Gg>assart et al., 2008 [PubMed 18305173]).[supplied by OMIM, Mar 2010]

MARCH3 Gene

membrane-associated ring>gg> fing>gg>er (C3HC4) 3, E3 ubiquitin protein lig>gg>ase

This g>gg>ene encodes a member of the membrane-associated RINg>Gg>-CH (MARCH) family. The encoded protein is an E3 ubiquitin-protein lig>gg>ase that may be involved in reg>gg>ulation of the endosomal transport pathway. [provided by RefSeq, Mar 2013]

MARCH2 Gene

membrane-associated ring>gg> fing>gg>er (C3HC4) 2, E3 ubiquitin protein lig>gg>ase

MARCH2 is a member of the MARCH family of membrane-bound E3 ubiquitin lig>gg>ases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to targ>gg>et lysines in substrate proteins, thereby sig>gg>naling>gg> their vesicular transport between membrane compartments. MARCH2 reduces surface accumulation of several g>gg>lycoproteins and appears to reg>gg>ulate early endosome-to-trans-g>Gg>olg>gg>i network (Tg>Gg>N) trafficking>gg> (Bartee et al., 2004 [PubMed 14722266]; Nakamura et al., 2005 [PubMed 15689499]).[supplied by OMIM, Mar 2010]

TMEM177 Gene

transmembrane protein 177

Involved in mitochondrial respiratory chain complex II assembly. Located in mitochondrial inner membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM174 Gene

transmembrane protein 174

Predicted to be involved in phosphate ion homeostasis. Located in endoplasmic reticulum membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM175 Gene

transmembrane protein 175

Enables arachidonate binding>gg> activity; potassium ion leak channel activity; and proton channel activity. Involved in lysosomal lumen pH elevation; potassium ion transmembrane transport; and proton transmembrane transport. Located in endosome membrane and lysosome. Is active in lysosomal membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MARCH8 Gene

membrane-associated ring>gg> fing>gg>er (C3HC4) 8, E3 ubiquitin protein lig>gg>ase

MARCH8 is a member of the MARCH family of membrane-bound E3 ubiquitin lig>gg>ases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to targ>gg>et lysines in substrate proteins, thereby sig>gg>naling>gg> their vesicular transport between membrane compartments. MARCH8 induces the internalization of several membrane g>gg>lycoproteins (g>Gg>oto et al., 2003 [PubMed 12582153]; Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Apr 2010]

TMEM171 Gene

transmembrane protein 171

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00272 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 272

TMEM100 Gene

transmembrane protein 100

Involved in BMP sig>gg>naling>gg> pathway. Located in several cellular components, including>gg> endoplasmic reticulum; perikaryon; and perinuclear reg>gg>ion of cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00273 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 273

LOC100288016 Gene

serine/threonine-protein phosphatase 4 reg>gg>ulatory subunit 2-like

LINC00271 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 271

LINC00276 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 276

ELSPBP1 Gene

epididymal sperm binding>gg> protein 1

The protein encoded by this g>gg>ene belong>gg>s to the sperm-coating>gg> protein family of epididymal orig>gg>in. This protein and its canine homolog>gg> are the first known examples of proteins with four tandemly arrang>gg>ed fibronectin type 2 (Fn2) domains in the Fn2-module protein family. [provided by RefSeq, Jul 2008]

LOC101926993 Gene

protein SPHAR-like

ZNF560 Gene

zinc fing>gg>er protein 560

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CKAP2P1 Gene

cytoskeleton associated protein 2 pseudog>gg>ene 1

RPL8P4 Gene

ribosomal protein L8 pseudog>gg>ene 4

RPL8P5 Gene

ribosomal protein L8 pseudog>gg>ene 5

RPL8P1 Gene

ribosomal protein L8 pseudog>gg>ene 1

RPL8P2 Gene

ribosomal protein L8 pseudog>gg>ene 2

RPL8P3 Gene

ribosomal protein L8 pseudog>gg>ene 3

UBP1 Gene

upstream binding>gg> protein 1 (LBP-1a)

Enables DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of viral transcription and positive reg>gg>ulation of transcription by RNA polymerase II. Located in cytosol and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL31P9 Gene

ribosomal protein L31 pseudog>gg>ene 9

RPL31P8 Gene

ribosomal protein L31 pseudog>gg>ene 8

RPL31P5 Gene

ribosomal protein L31 pseudog>gg>ene 5

RPL31P4 Gene

ribosomal protein L31 pseudog>gg>ene 4

RPL31P7 Gene

ribosomal protein L31 pseudog>gg>ene 7

RPL31P6 Gene

ribosomal protein L31 pseudog>gg>ene 6

RPL31P1 Gene

ribosomal protein L31 pseudog>gg>ene 1

RPL31P3 Gene

ribosomal protein L31 pseudog>gg>ene 3

RPL31P2 Gene

ribosomal protein L31 pseudog>gg>ene 2

LOC100421669 Gene

ribosome binding>gg> protein 1 homolog>gg> 180kDa (dog>gg>) pseudog>gg>ene

DYRK1AIP2 Gene

DYRK1A interacting>gg> protein 2

DYRK1AIP1 Gene

DYRK1A interacting>gg> protein 1

LOC105379617 Gene

zinc fing>gg>er protein 430-like

ZNF808 Gene

zinc fing>gg>er protein 808

Enables transcription cis-reg>gg>ulatory reg>gg>ion binding>gg> activity. Involved in cell differentiation; neg>gg>ative reg>gg>ulation of g>gg>ene expression; and pancreas development. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF805 Gene

zinc fing>gg>er protein 805

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF806 Gene

zinc fing>gg>er protein 806

ZNF807 Gene

zinc fing>gg>er protein 807

ZNF800 Gene

zinc fing>gg>er protein 800

Predicted to enable DNA-binding>gg> transcription factor activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to act upstream of or within acinar cell differentiation and endocrine pancreas development. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PROB1 Gene

proline-rich basic protein 1

Located in nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

INTU Gene

inturned planar cell polarity protein

Predicted to enable phosphatidylinositol binding>gg> activity. Involved in embryonic dig>gg>it morphog>gg>enesis; roof of mouth development; and tong>gg>ue morphog>gg>enesis. Located in ciliary basal body and motile cilium. Implicated in asphyxiating>gg> thoracic dystrophy and orofaciodig>gg>ital syndrome XVII. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>JA10 Gene

g>gg>ap junction protein, alpha 10, 62kDa

Connexins, such as g>Gg>JA10, are involved in the formation of g>gg>ap junctions, intercellular conduits that directly connect the cytoplasms of contacting>gg> cells. Each g>gg>ap junction channel is formed by docking>gg> of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008]

Ag>Gg>TPBP1 Gene

ATP/g>Gg>TP binding>gg> protein 1

NNA1 is a zinc carboxypeptidase that contains nuclear localization sig>gg>nals and an ATP/g>Gg>TP-binding>gg> motif that was initially cloned from reg>gg>enerating>gg> spinal cord neurons of the mouse.[supplied by OMIM, Jul 2002]

g>Gg>PIHBP1 Gene

g>gg>lycosylphosphatidylinositol anchored hig>gg>h density lipoprotein binding>gg> protein 1

This g>gg>ene encodes a capillary endothelial cell protein that facilitates the lipolytic processing>gg> of trig>gg>lyceride-rich lipoproteins. The encoded protein is a g>gg>lycosylphosphatidylinositol-anchored protein that is a member of the lymphocyte antig>gg>en 6 (Ly6) family. This protein plays a major role in transporting>gg> lipoprotein lipase (LPL) from the subendothelial spaces to the capillary lumen. Mutations in this g>gg>ene are the cause of hyperlipoproteinemia, type 1D. Alternate splicing>gg> results in multiple transcript variants. [provided by RefSeq, Sep 2014]

LOC100419721 Gene

zinc fing>gg>er protein 670 pseudog>gg>ene

SPIDR Gene

scaffolding>gg> protein involved in DNA repair

Involved in several processes, including>gg> cellular response to camptothecin; cellular response to hydroxyurea; and reg>gg>ulation of double-strand break repair. Located in nuclear chromosome and nucleoplasm. Implicated in 46 XX g>gg>onadal dysg>gg>enesis. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM191B Gene

transmembrane protein 191B

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM191C Gene

transmembrane protein 191C

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM191A Gene

transmembrane protein 191A (pseudog>gg>ene)

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100422055 Gene

vacuolar protein sorting>gg> 35 homolog>gg> (S. cerevisiae) pseudog>gg>ene

ZNF37A Gene

zinc fing>gg>er protein 37A

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

EPB42 Gene

erythrocyte membrane protein band 4.2

Erythrocyte membrane protein band 4.2 is an ATP-binding>gg> protein which may reg>gg>ulate the association of protein 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property reg>gg>ulation. Mutations in the EPB42 g>gg>ene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

EPB41 Gene

erythrocyte membrane protein band 4.1

The protein encoded by this g>gg>ene, tog>gg>ether with spectrin and actin, constitute the red cell membrane cytoskeletal network. This complex plays a critical role in erythrocyte shape and deformability. Mutations in this g>gg>ene are associated with type 1 elliptocytosis (EL1). Alternatively spliced transcript variants encoding>gg> different isoforms have been described for this g>gg>ene.[provided by RefSeq, Oct 2009]

g>Gg>SKIP Gene

g>Gg>SK3B interacting>gg> protein

This g>gg>ene encodes a protein that is involved as a neg>gg>ative reg>gg>ulator of g>Gg>SK3-beta in the Wnt sig>gg>naling>gg> pathway. The encoded protein may play a role in the retinoic acid sig>gg>naling>gg> pathway by reg>gg>ulating>gg> the functional interactions between g>Gg>SK3-beta, beta-catenin and cyclin D1, and it reg>gg>ulates the beta-catenin/N-cadherin pool. The encoded protein contains a g>Gg>SK3-beta interacting>gg> domain (g>Gg>ID) in its C-terminus, which is similar to the g>Gg>ID of Axin. The protein also contains an evolutionarily conserved RII-binding>gg> domain, which facilitates binding>gg> with protein kinase-A and g>Gg>SK3-beta, enabling>gg> its role as an A-kinase anchoring>gg> protein. Alternatively spliced transcript variants have been observed for this g>gg>ene. [provided by RefSeq, Dec 2012]

LINC01246 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1246

LINC01241 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1241

LINC01248 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1248

LINC01249 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1249

TINCR Gene

tissue differentiation-inducing>gg> non-protein coding>gg> RNA

This g>gg>ene produces a spliced long>gg> non-coding>gg> RNA that binds RNAs. This transcript interacts with staufen-1 protein to reg>gg>ulate the stability of mRNAs for g>gg>enes involved in the differentiation of epidermal tissue. Variation in this g>gg>ene may be associated with cancer prog>gg>ression. [provided by RefSeq, Aug>gg> 2017]

LOC100287653 Gene

PDg>Gg>FA associated protein 1 pseudog>gg>ene

LOC100128076 Gene

protein tyrosine phosphatase pseudog>gg>ene

SPICE1 Gene

spindle and centriole associated protein 1

Involved in metaphase chromosome alig>gg>nment; mitotic spindle assembly; and reg>gg>ulation of centriole replication. Located in centriole; centrosome; and spindle. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00599 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 599

Predicted to act upstream of or within several processes, including>gg> long>gg>-term synaptic potentiation; miRNA-mediated post-transcriptional g>gg>ene silencing>gg>; and sensory perception of sound. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00598 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 598

LINC00116 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 116

Involved in several processes, including>gg> positive reg>gg>ulation of mitochondrial membrane potential; positive reg>gg>ulation of sequestering>gg> of calcium ion; and trig>gg>lyceride homeostasis. Located in mitochondrion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00115 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 115

LINC00114 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 114

LINC00113 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 113

LINC00112 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 112

LINC00111 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 111

LOC102724485 Gene

putative cyclin-Y-like protein 3

RCHY1 Gene

ring>gg> fing>gg>er and CHY zinc fing>gg>er domain containing>gg> 1, E3 ubiquitin protein lig>gg>ase

The protein encoded by this g>gg>ene has ubiquitin lig>gg>ase activity. It mediates E3-dependent ubiquitination and proteasomal deg>gg>radation of targ>gg>et proteins, including>gg> tumor protein 53, histone deacetylase 1, and cyclin-dependent kinase inhibitor 1B, thus reg>gg>ulating>gg> their levels and cell cycle prog>gg>ression. Alternatively spliced transcript variants encoding>gg> different isoforms have been described for this g>gg>ene. [provided by RefSeq, Jun 2013]

HSPB11 Gene

heat shock protein family B (small), member 11

Predicted to enable metal ion binding>gg> activity. Predicted to be involved in kidney development; smoothened sig>gg>naling>gg> pathway; and spermatog>gg>enesis. Predicted to act upstream of or within several processes, including>gg> left/rig>gg>ht axis specification; lung>gg> development; and skeletal system development. Part of intraciliary transport particle B. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC387869 Gene

microtubule-associated protein 1 lig>gg>ht chain 3 beta pseudog>gg>ene

PKMYT1 Gene

protein kinase, membrane associated tyrosine/threonine 1

This g>gg>ene encodes a member of the serine/threonine protein kinase family. The encoded protein is a membrane-associated kinase that neg>gg>atively reg>gg>ulates the g>Gg>2/M transition of the cell cycle by phosphorylating>gg> and inactivating>gg> cyclin-dependent kinase 1. The activity of the encoded protein is reg>gg>ulated by polo-like kinase 1. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, May 2012]

RPL37P23 Gene

ribosomal protein L37 pseudog>gg>ene 23

FCg>Gg>BP Gene

Fc frag>gg>ment of Ig>gg>g>Gg> binding>gg> protein

Located in extracellular exosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NIP7P2 Gene

NIP7, nucleolar pre-rRNA processing>gg> protein pseudog>gg>ene 2

LOC105371194 Gene

putative HERC2-like protein 3

EP400 Gene

E1A binding>gg> protein p400

Predicted to enable chromatin binding>gg> activity. Involved in positive reg>gg>ulation of double-strand break repair via homolog>gg>ous recombination and reg>gg>ulation of cell cycle. Part of NuA4 histone acetyltransferase complex; Swr1 complex; and nucleosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CABS1 Gene

calcium-binding>gg> protein, spermatid-specific 1

Predicted to enable calcium ion binding>gg> activity. Predicted to be involved in flag>gg>ellated sperm motility and spermatog>gg>enesis. Predicted to be located in acrosomal vesicle and sperm principal piece. Predicted to be active in mitochondrial inner membrane and motile cilium. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC101060026 Gene

coiled-coil domain-containing>gg> protein 29-like

LOC105372319 Gene

putative zinc fing>gg>er protein 56

WTAP Gene

Wilms tumor 1 associated protein

The Wilms tumor suppressor g>gg>ene WT1 appears to play a role in both transcriptional and posttranscriptional reg>gg>ulation of certain cellular g>gg>enes. This g>gg>ene encodes a WT1-associating>gg> protein, which is a ubiquitously expressed nuclear protein. Like WT1 protein, this protein is localized throug>gg>hout the nucleoplasm as well as in speckles and partially colocalizes with splicing>gg> factors. Alternative splicing>gg> of this g>gg>ene results in several transcript variants encoding>gg> three different isoforms. [provided by RefSeq, Jul 2012]

ADTRP Gene

androg>gg>en-dependent TFPI-reg>gg>ulating>gg> protein

Enables hydrolase activity. Involved in several processes, including>gg> cell mig>gg>ration involved in sprouting>gg> ang>gg>iog>gg>enesis; neg>gg>ative reg>gg>ulation of secretion by cell; and positive reg>gg>ulation of macromolecule metabolic process. Located in caveola and cell surface. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SLC4A1APP2 Gene

solute carrier family 4 (anion exchang>gg>er), member 1, adaptor protein pseudog>gg>ene 2

SLC4A1APP1 Gene

solute carrier family 4 (anion exchang>gg>er), member 1, adaptor protein pseudog>gg>ene 1

LOC442244 Gene

PDg>Gg>FA associated protein 1 pseudog>gg>ene

NRAV Gene

neg>gg>ative reg>gg>ulator of antiviral response (non-protein coding>gg>)

LOC101927375 Gene

ankyrin repeat domain-containing>gg> protein 26-like

PACS1 Gene

phosphofurin acidic cluster sorting>gg> protein 1

This g>gg>ene encodes a protein with a putative role in the localization of trans-g>Gg>olg>gg>i network (Tg>Gg>N) membrane proteins. Mouse and rat homolog>gg>s have been identified and studies of the homolog>gg>ous rat protein indicate a role in directing>gg> Tg>Gg>N localization of furin by binding>gg> to the protease's phosphorylated cytosolic domain. In addition, the human protein plays a role in HIV-1 Nef-mediated downreg>gg>ulation of cell surface MHC-I molecules to the Tg>Gg>N, thereby enabling>gg> HIV-1 to escape immune surveillance. [provided by RefSeq, Jul 2008]

PACS2 Gene

phosphofurin acidic cluster sorting>gg> protein 2

Predicted to enable transmembrane transporter binding>gg> activity. Involved in endoplasmic reticulum calcium ion homeostasis; mitochondrion-endoplasmic reticulum membrane tethering>gg>; and protein localization to plasma membrane. Acts upstream of or within protein localization to phag>gg>ophore assembly site. Located in endoplasmic reticulum and mitochondrion. Implicated in developmental and epileptic encephalopathy 66. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RNF167 Gene

ring>gg> fing>gg>er protein 167

RNF167 is an E3 ubiquitin lig>gg>ase that interacts with TSSC5 (SLC22A18; MIM 602631) and, tog>gg>ether with UBCH6 (UBE2E1; MIM 602916), facilitates TSSC5 polyubiquitylation (Yamada and g>Gg>orbsky, 2006 [PubMed 16314844]).[supplied by OMIM, Mar 2008]

RNF166 Gene

ring>gg> fing>gg>er protein 166

Predicted to enable ubiquitin protein lig>gg>ase activity. Predicted to be involved in protein polyubiquitination and ubiquitin-dependent protein catabolic process. Predicted to be located in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RNF165 Gene

ring>gg> fing>gg>er protein 165

Predicted to enable ubiquitin protein lig>gg>ase activity. Predicted to be involved in motor neuron axon g>gg>uidance and positive reg>gg>ulation of BMP sig>gg>naling>gg> pathway. Predicted to act upstream of or within several processes, including>gg> forelimb morphog>gg>enesis; nervous system development; and protein polyubiquitination. Predicted to be part of protein-containing>gg> complex. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RNF169 Gene

ring>gg> fing>gg>er protein 169

Enables K63-linked polyubiquitin modification-dependent protein binding>gg> activity; nucleosome binding>gg> activity; and ubiquitin-modified histone reader activity. Involved in double-strand break repair via homolog>gg>ous recombination and neg>gg>ative reg>gg>ulation of double-strand break repair. Located in cytosol; nuclear lumen; and site of double-strand break. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00996 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 996

PCA3 Gene

prostate cancer associated 3 (non-protein coding>gg>)

This g>gg>ene produces a spliced, long>gg> non-coding>gg> RNA that is hig>gg>hly overexpressed in most types of prostate cancer cells and is used as a specific biomarker for this type of cancer. This g>gg>ene is embedded in an intronic reg>gg>ion of the prune2 g>gg>ene on the opposite DNA strand. The transcript reg>gg>ulates prune2 levels throug>gg>h formation of a double-stranded RNA that underg>gg>oes adenosine deaminase acting>gg> on RNA-dependent adenosine-to-inosine RNA editing>gg>. In prostate cancer derived cells, overexpression of PCA induced downreg>gg>ulation of prune2, leading>gg> to decreased cell proliferation. Conversely, silencing>gg> in prostate cancer cells resulted in increased proliferation. Reg>gg>ulation of this g>gg>ene appears to be sensitive to androg>gg>en-g>receptorg> activation, a molecular sig>gg>nature of prostate cancer. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jan 2017]

MRPL54 Gene

mitochondrial ribosomal protein L54

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]

MRPL55 Gene

mitochondrial ribosomal protein L55

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein. Multiple transcript variants encoding>gg> two different isoforms were identified throug>gg>h sequence analysis. [provided by RefSeq, Jul 2008]

MRPL57 Gene

mitochondrial ribosomal protein L57

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a protein which belong>gg>s to an undetermined ribosomal subunit and which seems to be specific to animal mitoribosomes. Pseudog>gg>enes corresponding>gg> to this g>gg>ene are found on chromosomes 1p, 1q, 3p, 5q, 8q, 14q, and Y. [provided by RefSeq, Jul 2008]

MRPL50 Gene

mitochondrial ribosomal protein L50

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a putative 39S subunit protein and belong>gg>s to the L47P ribosomal protein family. Pseudog>gg>enes corresponding>gg> to this g>gg>ene are found on chromosomes 2p, 2q, 5p, and 10q. [provided by RefSeq, Jul 2008]

MRPL51 Gene

mitochondrial ribosomal protein L51

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein. Pseudog>gg>enes corresponding>gg> to this g>gg>ene are found on chromosomes 4p and 21q. [provided by RefSeq, Jul 2008]

MRPL52 Gene

mitochondrial ribosomal protein L52

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein which has no bacterial homolog>gg>. Multiple transcript variants encoding>gg> different protein isoforms were identified throug>gg>h sequence analysis. [provided by RefSeq, Jul 2008]

MRPL53 Gene

mitochondrial ribosomal protein L53

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein. A pseudog>gg>ene corresponding>gg> to this g>gg>ene is found on chromosome 1p. [provided by RefSeq, Jul 2008]

NPAP1P5 Gene

nuclear pore associated protein 1 pseudog>gg>ene 5

LOC101059907 Gene

protein FAM207A pseudog>gg>ene

RBMY2KP Gene

RNA binding>gg> motif protein, Y-linked, family 2, member K pseudog>gg>ene

DSTYK Gene

dual serine/threonine and tyrosine protein kinase

This g>gg>ene encodes a dual serine/threonine and tyrosine protein kinase which is expressed in multiple tissues. It is thoug>gg>ht to function as a reg>gg>ulator of cell death. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Dec 2008]

PPP1R1A Gene

protein phosphatase 1, reg>gg>ulatory (inhibitor) subunit 1A

Predicted to enable protein serine/threonine phosphatase inhibitor activity. Predicted to be involved in intracellular sig>gg>nal transduction. Predicted to be active in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PPP1R1C Gene

protein phosphatase 1, reg>gg>ulatory (inhibitor) subunit 1C

Protein phosphatase-1 (PP1) is a major serine/threonine phosphatase that reg>gg>ulates a variety of cellular functions. PP1 consists of a catalytic subunit (see PPP1CA; MIM 176875) and reg>gg>ulatory subunits that determine the subcellular localization of PP1 or reg>gg>ulate its function. PPP1R1C belong>gg>s to a g>gg>roup of PP1 inhibitory subunits that are themselves reg>gg>ulated by phosphorylation (Wang>gg> et al., 2008 [PubMed 18310074]).[supplied by OMIM, Feb 2010]

PPP1R1B Gene

protein phosphatase 1, reg>gg>ulatory (inhibitor) subunit 1B

This g>gg>ene encodes a bifunctional sig>gg>nal transduction molecule. Dopaminerg>gg>ic and g>gg>lutamaterg>gg>ic g>receptorg> stimulation reg>gg>ulates its phosphorylation and function as a kinase or phosphatase inhibitor. As a targ>gg>et for dopamine, this g>gg>ene may serve as a therapeutic targ>gg>et for neurolog>gg>ic and psychiatric disorders. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Oct 2011]

LOC100422213 Gene

g>gg>uanine nucleotide binding>gg> protein-like 3 (nucleolar) pseudog>gg>ene

PPP1R11 Gene

protein phosphatase 1, reg>gg>ulatory (inhibitor) subunit 11

This g>gg>ene encodes a specific inhibitor of protein phosphatase-1 (PP1) with a differential sensitivity toward the metal-independent and metal-dependent forms of PP1. The g>gg>ene is located within the major histocompatibility complex class I reg>gg>ion on chromosome 6. [provided by RefSeq, Jul 2008]

PPP1R10 Gene

protein phosphatase 1, reg>gg>ulatory subunit 10

This g>gg>ene encodes a protein phosphatase 1 binding>gg> protein. The encoded protein plays a role in many cellular processes including>gg> cell cycle prog>gg>ression, DNA repair and apoptosis by reg>gg>ulating>gg> the activity of protein phosphatase 1. This g>gg>ene lies within the major histocompatibility complex class I reg>gg>ion on chromosome 6, and alternatively spliced transcript variants have been observed for this g>gg>ene. [provided by RefSeq, Jul 2012]

RPL10P9 Gene

ribosomal protein L10 pseudog>gg>ene 9

RPL10P6 Gene

ribosomal protein L10 pseudog>gg>ene

PPP1R18 Gene

protein phosphatase 1, reg>gg>ulatory subunit 18

Protein phosphatase-1 (PP1; see MIM 176875) interacts with reg>gg>ulatory subunits that targ>gg>et the enzyme to different cellular locations and chang>gg>e its activity toward specific substrates. Phostensin is a reg>gg>ulatory subunit that targ>gg>ets PP1 to F-actin (see MIM 102610) cytoskeleton (Kao et al., 2007 [PubMed 17374523]).[supplied by OMIM, Mar 2008]

RPL10P4 Gene

ribosomal protein L10 pseudog>gg>ene

RPL10P5 Gene

ribosomal protein L10 pseudog>gg>ene 5

RPL10P2 Gene

ribosomal protein L10 pseudog>gg>ene 2

RPL10P3 Gene

ribosomal protein L10 pseudog>gg>ene 3

RPL10P1 Gene

ribosomal protein L10 pseudog>gg>ene 1

LOC102723668 Gene

protein FAM182A-like

SIRPB2 Gene

sig>gg>nal-reg>gg>ulatory protein beta 2

Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SIRPB1 Gene

sig>gg>nal-reg>gg>ulatory protein beta 1

The protein encoded by this g>gg>ene is a member of the sig>gg>nal-reg>gg>ulatory-protein (SIRP) family, and also belong>gg>s to the immunog>gg>lobulin superfamily. SIRP family members are g>receptorg>-type transmembrane g>gg>lycoproteins known to be involved in the neg>gg>ative reg>gg>ulation of g>receptorg> tyrosine kinase-coupled sig>gg>naling>gg> processes. This protein was found to interact with TYROBP/DAP12, a protein bearing>gg> immunog>receptorg> tyrosine-based activation motifs. This protein was also reported to participate in the recruitment of tyrosine kinase SYK. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Feb 2009]

STRIP1 Gene

striatin interacting>gg> protein 1

This g>gg>ene encodes a member of the striatin-interacting>gg> phosphatase and kinase complex, which is involved in localization of the g>Gg>olg>gg>i body. The encoded protein participates in cytosketelal org>gg>anization. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2012]

STRIP2 Gene

striatin interacting>gg> protein 2

Involved in cell mig>gg>ration; cytoskeleton org>gg>anization; and reg>gg>ulation of cell shape. Located in cytosol. Part of FAR/SIN/STRIPAK complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LEP7 Gene

late envelope protein 7

IFI44L Gene

interferon-induced protein 44-like

Predicted to be involved in immune response. Predicted to be located in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

AREL1 Gene

apoptosis resistant E3 ubiquitin protein lig>gg>ase 1

Enables ubiquitin protein lig>gg>ase activity. Involved in neg>gg>ative reg>gg>ulation of apoptotic process; protein polyubiquitination; and ubiquitin-dependent protein catabolic process. Located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL21P46 Gene

ribosomal protein L21 pseudog>gg>ene 46

LASP1 Gene

LIM and SH3 protein 1

This g>gg>ene encodes a member of a subfamily of LIM proteins, characterized by a LIM motif and a domain of Src homolog>gg>y reg>gg>ion 3, and also a member of the nebulin family of actin-binding>gg> proteins. The encoded protein is a cAMP and cg>Gg>MP dependent sig>gg>naling>gg> protein and binds to the actin cytoskeleton at extensions of the cell membrane. The encoded protein has been linked to metastatic breast cancer, hematopoetic tumors such as B-cell lymphomas, and colorectal cancer. [provided by RefSeq, Oct 2012]

RPL21P43 Gene

ribosomal protein L21 pseudog>gg>ene 43

RPL21P42 Gene

ribosomal protein L21 pseudog>gg>ene 42

LOC643438 Gene

hunting>gg>tin interacting>gg> protein K pseudog>gg>ene

LOC100129262 Gene

ribosomal protein L28 pseudog>gg>ene

RPS29P9 Gene

ribosomal protein S29 pseudog>gg>ene 9

RPS29P8 Gene

ribosomal protein S29 pseudog>gg>ene 8

RPS29P5 Gene

ribosomal protein S29 pseudog>gg>ene 5

RPS29P4 Gene

ribosomal protein S29 pseudog>gg>ene 4

RPS29P7 Gene

ribosomal protein S29 pseudog>gg>ene 7

RPS29P6 Gene

ribosomal protein S29 pseudog>gg>ene 6

RPS29P1 Gene

ribosomal protein S29 pseudog>gg>ene 1

RPS29P3 Gene

ribosomal protein S29 pseudog>gg>ene 3

RPS29P2 Gene

ribosomal protein S29 pseudog>gg>ene 2

RPS29P19 Gene

ribosomal protein S29 pseudog>gg>ene 19

RPS29P18 Gene

ribosomal protein S29 pseudog>gg>ene 18

RPS29P13 Gene

ribosomal protein S29 pseudog>gg>ene 13

RPS29P12 Gene

ribosomal protein S29 pseudog>gg>ene 12

RPS29P14 Gene

ribosomal protein S29 pseudog>gg>ene 14

RPS29P17 Gene

ribosomal protein S29 pseudog>gg>ene 17

ZNF816 Gene

zinc fing>gg>er protein 816

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in membrane. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CRISP1 Gene

cysteine-rich secretory protein 1

Fertilization consists of a sequence of specific cell-cell interactions culminating>gg> in the fusion of the sperm and eg>gg>g>gg> plasma membranes. Recog>gg>nition, binding>gg>, and fusion occur throug>gg>h the interaction of complementary molecules that are localized to specific domains of the sperm and eg>gg>g>gg> plasma membranes. In the sperm, the postacrosomal reg>gg>ion or equatorial seg>gg>ment is involved in sperm-eg>gg>g>gg> plasma membrane fusion. The protein encoded by this g>gg>ene is a member of the cysteine-rich secretory protein (CRISP) family. It is expressed in the epididymis, is secreted into the epididymal lumen, and binds to the postacrosomal reg>gg>ion of the sperm head, where it plays a role in sperm-eg>gg>g>gg> fusion. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Mar 2011]

CRISP3 Gene

cysteine-rich secretory protein 3

This g>gg>ene encodes a member of the cysteine-rich secretory protein (CRISP) family within the CRISP, antig>gg>en 5 and pathog>gg>enesis-related 1 proteins superfamily. The encoded protein has an N-terminal CRISP, antig>gg>en 5 and pathog>gg>enesis-related 1 proteins domain, a hing>gg>e reg>gg>ion, and a C-terminal ion channel reg>gg>ulator domain. This protein contains cysteine residues, located in both the N- and C-terminal domains, that form eig>gg>ht disulfide bonds, a disting>gg>uishing>gg> characteristic of this family. This g>gg>ene is expressed in the male reproductive tract where it plays a role in sperm function and fertilization, and the female reproductive tract where it plays a role in endometrial receptivity for embryo implantation. This g>gg>ene is upreg>gg>ulated in certain types of prostate cancer. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Nov 2016]

CRISP2 Gene

cysteine-rich secretory protein 2

Predicted to be located in extracellular reg>gg>ion. Predicted to be active in extracellular space. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

WASF5P Gene

WAS protein family, member 5, pseudog>gg>ene

This g>gg>ene is a pseudog>gg>ene belong>gg>ing>gg> to the family of g>gg>enes encoding>gg> Wiskott-Aldrich syndrome (WAS) proteins, which are involved in the transmission of sig>gg>nals to the actin cytoskeleton. Wiskott-Aldrich syndrome is a disease of the immune system. This pseudog>gg>ene, which is apparently not transcribed, resembles the g>gg>ene encoding>gg> the WAS protein family member 3, which is located on chromosome 13. [provided by RefSeq, Jul 2008]

ZNF814 Gene

zinc fing>gg>er protein 814

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL35AP22 Gene

ribosomal protein L35a pseudog>gg>ene 22

SYNJ2BP Gene

synaptojanin 2 binding>gg> protein

Predicted to enable type II activin g>receptorg> binding>gg> activity. Involved in several processes, including>gg> neg>gg>ative reg>gg>ulation of endothelial cell mig>gg>ration; neg>gg>ative reg>gg>ulation of sprouting>gg> ang>gg>iog>gg>enesis; and reg>gg>ulation of sig>gg>nal transduction. Located in mitochondrial outer membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105374299 Gene

proline-rich protein 36-like

LOC100129693 Gene

mitochondrial ribosomal protein L19 pseudog>gg>ene

RIMKLBP2 Gene

ribosomal modification protein rimK-like family member B pseudog>gg>ene 2

KPTN Gene

kaptin (actin binding>gg> protein)

This g>gg>ene encodes a filamentous-actin-associated protein, which is involved in actin dynamics and plays an important role in neuromorphog>gg>enesis. This protein is part of the KICSTOR protein complex that localizes to lysosomes. Mutations in this g>gg>ene result in an autosomal recessive form of intellectual disability. Alternatively spliced transcript variants have been found for this g>gg>ene. [provided by RefSeq, Jul 2017]

MZT1P2 Gene

mitotic spindle org>gg>anizing>gg> protein 1 pseudog>gg>ene 2

ZNF101P2 Gene

zinc fing>gg>er protein 101 pseudog>gg>ene 2

ZNF101P1 Gene

zinc fing>gg>er protein 101 pseudog>gg>ene 1

RNPS1 Gene

RNA binding>gg> protein S1, serine-rich domain

This g>gg>ene encodes a protein that is part of a post-splicing>gg> multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading>gg> frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this trig>gg>g>gg>ers NMD to deg>gg>rade mRNAs containing>gg> premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting>gg> as a nucleocytoplasmic shuttling>gg> protein. This protein contains many serine residues. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Nov 2013]

LOC100130210 Gene

tyrosine 3-monooxyg>gg>enase/tryptophan 5-monooxyg>gg>enase activation protein, epsilon polypeptide pseudog>gg>ene

MYBPC3 Gene

myosin binding>gg> protein C, cardiac

MYBPC3 encodes the cardiac isoform of myosin-binding>gg> protein C. Myosin-binding>gg> protein C is a myosin-associated protein found in the cross-bridg>gg>e-bearing>gg> zone (C reg>gg>ion) of A bands in striated muscle. MYBPC3 is expressed exclusively in heart muscle and is a key reg>gg>ulator of cardiac contraction. Mutations in this g>gg>ene are a frequent cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, May 2022]

MYBPC2 Gene

myosin binding>gg> protein C, fast type

This g>gg>ene encodes a member of the myosin-binding>gg> protein C family. This family includes the fast-, slow- and cardiac-type isoforms, each of which is a myosin-associated protein found in the cross-bridg>gg>e-bearing>gg> zone (C reg>gg>ion) of A bands in striated muscle. The protein encoded by this locus is referred to as the fast-type isoform. Mutations in the related but distinct g>gg>enes encoding>gg> the slow-type and cardiac-type isoforms have been associated with distal arthrog>gg>ryposis, type 1 and hypertrophic cardiomyopathy, respectively. [provided by RefSeq, Jul 2012]

MYBPC1 Gene

myosin binding>gg> protein C, slow type

This g>gg>ene encodes a member of the myosin-binding>gg> protein C family. Myosin-binding>gg> protein C family members are myosin-associated proteins found in the cross-bridg>gg>e-bearing>gg> zone (C reg>gg>ion) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding>gg> protein C and plays an important role in muscle contraction by recruiting>gg> muscle-type creatine kinase to myosin filaments. Mutations in this g>gg>ene are associated with distal arthrog>gg>ryposis type I. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Dec 2011]

LOC100421267 Gene

phosphodiesterase 4D interacting>gg> protein pseudog>gg>ene

LOC100129384 Gene

ankyrin repeat domain-containing>gg> protein 33B-like

RASA4B Gene

RAS p21 protein activator 4B

Predicted to enable g>Gg>TPase activator activity; metal ion binding>gg> activity; and phospholipid binding>gg> activity. Predicted to be involved in cellular response to calcium ion; intracellular sig>gg>nal transduction; and neg>gg>ative reg>gg>ulation of Ras protein sig>gg>nal transduction. Predicted to be located in cytosol and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MRPS16P3 Gene

mitochondrial ribosomal protein S16 pseudog>gg>ene 3

MRPS16P2 Gene

mitochondrial ribosomal protein S16 pseudog>gg>ene 2

MRPS16P1 Gene

mitochondrial ribosomal protein S16 pseudog>gg>ene 1

LOC100421028 Gene

g>gg>ap junction protein, alpha 4, 37kDa pseudog>gg>ene

LOC100129381 Gene

ribosomal protein S7 pseudog>gg>ene

SLIRP Gene

SRA stem-loop interacting>gg> RNA binding>gg> protein

Steroid g>receptorg> RNA activator (SRA, or SRA1; MIM 603819) is a complex RNA molecule containing>gg> multiple stable stem-loop structures that functions in coactivation of nuclear g>receptorg>s. SLIRP interacts with stem-loop structure-7 of SRA (STR7) and modulates nuclear g>receptorg> transactivation (Hatchell et al., 2006 [PubMed 16762838]).[supplied by OMIM, Mar 2008]

LINC01160 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1160

LINC01163 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1163

LINC01164 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1164

LINC01167 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1167

LINC01169 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1169

LINC01168 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1168

LETM1P1 Gene

leucine zipper-EF-hand containing>gg> transmembrane protein 1, pseudog>gg>ene 1

VPS18 Gene

vacuolar protein sorting>gg> 18 homolog>gg> (S. cerevisiae)

Vesicle mediated protein sorting>gg> plays an important role in seg>gg>reg>gg>ation of intracellular molecules into distinct org>gg>anelles. g>Gg>enetic studies in yeast have identified more than 40 vacuolar protein sorting>gg> (VPS) g>gg>enes involved in vesicle transport to vacuoles. This g>gg>ene encodes the human homolog>gg> of yeast class C Vps18 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking>gg> steps in the endosome/lysosome pathway. [provided by RefSeq, Jul 2008]

VPS11 Gene

vacuolar protein sorting>gg> 11 homolog>gg> (S. cerevisiae)

Vesicle mediated protein sorting>gg> plays an important role in seg>gg>reg>gg>ation of intracellular molecules into distinct org>gg>anelles. g>Gg>enetic studies in yeast have identified more than 40 vacuolar protein sorting>gg> (VPS) g>gg>enes involved in vesicle transport to vacuoles. This g>gg>ene encodes the human homolog>gg> of yeast class C Vps11 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking>gg> steps in the endosome/lysosome pathway. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Feb 2014]

PRO2964 Gene

uncharacterized protein PRO2964

TPD52 Gene

tumor protein D52

Enables calcium ion binding>gg> activity and protein homodimerization activity. Involved in B cell differentiation. Located in endoplasmic reticulum and perinuclear reg>gg>ion of cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PZP Gene

preg>gg>nancy-zone protein

The protein encoded by this g>gg>ene is hig>gg>hly expressed in late-preg>gg>nancy serum and is similar in structure to alpha-2-macrog>gg>lobulin. The encoded protein, which acts as a homotetramer, inhibits the activity of all four classes of proteinases. This protein contains cleavag>gg>e sites for several proteinases. Upon binding>gg> of a proteinase, the conformation of this protein chang>gg>es to trap the proteinase, limiting>gg> its activity. This protein appears to be elevated in the sera of presymptomatic Alzheimer's disease patients. [provided by RefSeq, Dec 2016]

SPESP1 Gene

sperm equatorial seg>gg>ment protein 1

The encoded protein is a human alloantig>gg>en involved in sperm-eg>gg>g>gg> binding>gg> and fusion. [provided by RefSeq, Apr 2010]

MRPL40P1 Gene

mitochondrial ribosomal protein L40 pseudog>gg>ene 1

BICC1 Gene

BicC family RNA binding>gg> protein 1

This g>gg>ene encodes an RNA-binding>gg> protein that is active in reg>gg>ulating>gg> g>gg>ene expression by modulating>gg> protein translation during>gg> embryonic development. Mouse studies identified the corresponding>gg> protein to be under strict control during>gg> cell differentiation and to be a maternally provided g>gg>ene product. [provided by RefSeq, Apr 2009]

MRPL20P1 Gene

mitochondrial ribosomal protein L20 pseudog>gg>ene 1

LOC102724694 Gene

cyclin-Y-like protein 2

EHBP1 Gene

EH domain binding>gg> protein 1

This g>gg>ene encodes an Eps15 homolog>gg>y domain binding>gg> protein. The encoded protein may play a role in endocytic trafficking>gg>. A sing>gg>le nucleotide polymorphism in this g>gg>ene is associated with an ag>gg>g>gg>ressive form of prostate cancer. Alternate splicing>gg> results in multiple transcript variants. [provided by RefSeq, Feb 2010]

LOC283804 Gene

disinteg>gg>rin and metalloproteinase domain-containing>gg> protein 21-like

LOC101060024 Gene

uncharacterized protein C7orf73-like

LOC399783 Gene

zinc fing>gg>er protein 532 pseudog>gg>ene

LOC100506217 Gene

putative POM121-like protein 1-like

RIMBP2 Gene

RIMS binding>gg> protein 2

Predicted to enable voltag>gg>e-g>gg>ated calcium channel activity involved in reg>gg>ulation of presynaptic cytosolic calcium levels and voltag>gg>e-g>gg>ated monoatomic ion channel activity involved in reg>gg>ulation of presynaptic membrane potential. Predicted to be a structural constituent of presynaptic active zone. Predicted to be involved in neuromuscular synaptic transmission; reg>gg>ulation of calcium-dependent activation of synaptic vesicle fusion; and reg>gg>ulation of presynaptic membrane potential. Predicted to be located in plasma membrane and synapse. Predicted to be active in calyx of Held; g>gg>lutamaterg>gg>ic synapse; and presynaptic active zone cytoplasmic component. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RIMBP3 Gene

RIMS binding>gg> protein 3

Predicted to enable benzodiazepine g>receptorg> binding>gg> activity. Predicted to be involved in fertilization and spermatid development. Predicted to be located in manchette. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

AIMP1P1 Gene

aminoacyl tRNA synthetase complex-interacting>gg> multifunctional protein 1 pseudog>gg>ene 1

AIMP1P2 Gene

aminoacyl tRNA synthetase complex-interacting>gg> multifunctional protein 1 pseudog>gg>ene 2

LOC643494 Gene

RNA binding>gg> motif protein 4B pseudog>gg>ene

LOC100174950 Gene

speckle-type POZ protein-like pseudog>gg>ene

CNTNAP3B Gene

contactin associated protein-like 3B

Predicted to be involved in cell adhesion. Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RMST Gene

rhabdomyosarcoma 2 associated transcript (non-protein coding>gg>)

This g>gg>ene produces a long>gg> non-coding>gg> RNA that functions in neurog>gg>enesis by aiding>gg> in the association of Sox2 transcription factor to its targ>gg>et promoters. [provided by RefSeq, Dec 2017]

LOC100128948 Gene

zinc fing>gg>er protein 607 pseudog>gg>ene

LOC100132498 Gene

centromere protein N pseudog>gg>ene

LOC105371937 Gene

basic proline-rich protein-like

EMC10 Gene

ER membrane protein complex subunit 10

Contributes to membrane insertase activity. Involved in positive reg>gg>ulation of ang>gg>iog>gg>enesis; positive reg>gg>ulation of endothelial cell proliferation; and protein insertion into ER membrane. Located in endoplasmic reticulum membrane and extracellular reg>gg>ion. Part of EMC complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100420798 Gene

poly(A) binding>gg> protein, nuclear 1 pseudog>gg>ene

LOC100420797 Gene

Fc frag>gg>ment of Ig>gg>g>Gg> binding>gg> protein pseudog>gg>ene

KRTAP21-1 Gene

keratin associated protein 21-1

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SRP14 Gene

sig>gg>nal recog>gg>nition particle 14kDa (homolog>gg>ous Alu RNA binding>gg> protein)

Enables RNA binding>gg> activity. Involved in protein targ>gg>eting>gg> to ER. Located in nucleus. Part of sig>gg>nal recog>gg>nition particle, endoplasmic reticulum targ>gg>eting>gg>. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100421462 Gene

trafficking>gg> protein particle complex 2-like pseudog>gg>ene

LOC105369140 Gene

putative neuroblastoma breakpoint family member 6-like protein

LOC100506400 Gene

transmembrane protein 258 pseudog>gg>ene

CNTNAP3 Gene

contactin associated protein-like 3

The protein encoded by this g>gg>ene belong>gg>s to the NCP family of cell-recog>gg>nition molecules. This family represents a distinct subg>gg>roup of the neurexins. NCP proteins mediate neuron-g>gg>lial interactions in vertebrates and g>gg>lial-g>gg>lial contact in invertebrates. The protein encoded by this g>gg>ene may play a role in cell recog>gg>nition within the nervous system. Alternatively spliced transcript variants encoding>gg> different isoforms have been described but their biolog>gg>ical nature has not been determined. [provided by RefSeq, Jul 2008]

CNTNAP2 Gene

contactin associated protein-like 2

This g>gg>ene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and g>receptorg>s. This protein, like other neurexin proteins, contains epidermal g>gg>rowth factor repeats and laminin g>Gg> domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinog>gg>en-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding>gg> site. This protein is localized at the juxtaparanodes of myelinated axons, and mediates interactions between neurons and g>gg>lia during>gg> nervous system development and is also involved in localization of potassium channels within differentiating>gg> axons. This g>gg>ene encompasses almost 1.5% of chromosome 7 and is one of the larg>gg>est g>gg>enes in the human g>gg>enome. It is directly bound and reg>gg>ulated by forkhead box protein P2, a transcription factor related to speech and lang>gg>uag>gg>e development. This g>gg>ene has been implicated in multiple neurodevelopmental disorders, including>gg> g>Gg>illes de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and intellectual disability. [provided by RefSeq, Jul 2017]

CNTNAP5 Gene

contactin associated protein-like 5

This g>gg>ene product belong>gg>s to the neurexin family, members of which function in the vertebrate nervous system as cell adhesion molecules and g>receptorg>s. This protein, like other neurexin proteins, contains epidermal g>gg>rowth factor repeats and laminin g>Gg> domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinog>gg>en-like domains, and thrombospondin N-terminal-like domains. [provided by RefSeq, Jul 2008]

CNTNAP4 Gene

contactin associated protein-like 4

This g>gg>ene encodes a member of the neurexin protein family. Members of this family function in the vertebrate nervous system as cell adhesion molecules and g>receptorg>s. This protein contains epidermal g>gg>rowth factor repeats and laminin g>Gg> domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinog>gg>en-like domains, and thrombospondin N-terminal-like domains. This protein may also play a role in proper neurotransmission in the dopaminerg>gg>ic and g>Gg>ABAerg>gg>ic systems and mutations in this g>gg>ene may be associated with certain psychiatric illnesses. A polymorphism in an intron of this g>gg>ene may be associated with long>gg>evity. [provided by RefSeq, Apr 2016]

LOC388813 Gene

uncharacterized protein ENSP00000383407-like

ZNF736P8Y Gene

zinc fing>gg>er protein 736 pseudog>gg>ene 8, Y-linked

ZFY Gene

zinc fing>gg>er protein, Y-linked

This g>gg>ene encodes a zinc fing>gg>er-containing>gg> protein that may function as a transcription factor. This g>gg>ene was once a candidate g>gg>ene for the testis-determining>gg> factor (TDF) and was erroneously referred to as TDF. [provided by RefSeq, Jul 2008]

CEP295 Gene

centrosomal protein 295kDa

Enables microtubule binding>gg> activity. Involved in several processes, including>gg> centriole replication; positive reg>gg>ulation of protein acetylation; and reg>gg>ulation of centrosome duplication. Located in cytosol; microtubule cytoskeleton; and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC388104 Gene

transmembrane protein 183A pseudog>gg>ene

CEP290 Gene

centrosomal protein 290kDa

This g>gg>ene encodes a protein with 13 putative coiled-coil domains, a reg>gg>ion with homolog>gg>y to SMC chromosome seg>gg>reg>gg>ation ATPases, six KID motifs, three tropomyosin homolog>gg>y domains and an ATP/g>Gg>TP binding>gg> site motif A. The protein is localized to the centrosome and cilia and has sites for N-g>gg>lycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this g>gg>ene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies ag>gg>ainst this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008]

IPCEF1 Gene

interaction protein for cytohesin exchang>gg>e factors 1

Predicted to enable peroxidase activity. Predicted to be involved in response to oxidative stress. Predicted to be located in cytoplasm and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF888 Gene

zinc fing>gg>er protein 888

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PRMT5P1 Gene

protein arg>gg>inine methyltransferase 5 pseudog>gg>ene 1

DMAP1 Gene

DNA methyltransferase 1 associated protein 1

This g>gg>ene encodes a subunit of several, distinct complexes involved in the repression or activation of transcription. The encoded protein can independently repress transcription and is targ>gg>eted to replication foci throug>gg>hout S phase by interacting>gg> directly with the N-terminus of DNA methyltransferase 1. During>gg> late S phase, histone deacetylase 2 is added to this complex, providing>gg> a means to deacetylate histones in transcriptionally inactive heterochromatin following>gg> replication. The encoded protein is also a component of the nucleosome acetyltransferase of H4 complex and interacts with the transcriptional corepressor tumor susceptibility g>gg>ene 101 and the pro-apoptotic death-associated protein 6, among>gg> others. Alternatively spliced transcript variants encoding>gg> the same protein have been described. [provided by RefSeq, Jul 2008]

FTX Gene

FTX transcript, XIST reg>gg>ulator (non-protein coding>gg>)

This g>gg>ene is located upstream of XIST, within the X-inactivation center (XIC). It produces a spliced long>gg> non-coding>gg> RNA that is thoug>gg>ht to positively reg>gg>ulate the expression of XIST, which is essential for the initiation and spread of X-inactivation. [provided by RefSeq, May 2015]

LOC100129098 Gene

serine/arg>gg>inine repetitive matrix protein 2-like

RPS28P4 Gene

ribosomal protein S28 pseudog>gg>ene 4

RPS28P6 Gene

ribosomal protein S28 pseudog>gg>ene 6

RPS28P7 Gene

ribosomal protein S28 pseudog>gg>ene 7

RPS28P2 Gene

ribosomal protein S28 pseudog>gg>ene 2

RPS28P3 Gene

ribosomal protein S28 pseudog>gg>ene 3

RPS10P28 Gene

ribosomal protein S10 pseudog>gg>ene 28

RPS10P29 Gene

ribosomal protein S10 pseudog>gg>ene 29

TMEM151B Gene

transmembrane protein 151B

Predicted to be active in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM151A Gene

transmembrane protein 151A

Located in endoplasmic reticulum and membrane. Implicated in episodic kinesig>gg>enic dyskinesia 3. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPTOR Gene

reg>gg>ulatory associated protein of MTOR, complex 1

This g>gg>ene encodes a component of a sig>gg>naling>gg> pathway that reg>gg>ulates cell g>gg>rowth in response to nutrient and insulin levels. The encoded protein forms a stoichiometric complex with the mTOR kinase, and also associates with eukaryotic initiation factor 4E-binding>gg> protein-1 and ribosomal protein S6 kinase. The protein positively reg>gg>ulates the downstream effector ribosomal protein S6 kinase, and neg>gg>atively reg>gg>ulates the mTOR kinase. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Sep 2009]

RYBP Gene

RINg>Gg>1 and YY1 binding>gg> protein

Enables nucleic acid binding>gg> activity. Involved in several processes, including>gg> neg>gg>ative reg>gg>ulation of proteasomal ubiquitin-dependent protein catabolic process; positive reg>gg>ulation of DNA-templated transcription; and positive reg>gg>ulation of apoptotic process. Located in nucleoplasm. Part of Pcg>Gg> protein complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL22P17 Gene

ribosomal protein L22 pseudog>gg>ene 17

CILP Gene

cartilag>gg>e intermediate layer protein, nucleotide pyrophosphohydrolase

Major alterations in the composition of the cartilag>gg>e extracellular matrix occur in joint disease, such as osteoarthrosis. This g>gg>ene encodes the cartilag>gg>e intermediate layer protein (CILP), which increases in early osteoarthrosis cartilag>gg>e. The encoded protein was thoug>gg>ht to encode a protein precursor for two different proteins; an N-terminal CILP and a C-terminal homolog>gg> of NTPPHase, however, later studies identified no nucleotide pyrophosphatase phosphodiesterase (NPP) activity. The full-leng>gg>th and the N-terminal domain of this protein was shown to function as an Ig>Gg>F-1 antag>gg>onist. An allelic variant of this g>gg>ene has been associated with lumbar disc disease. [provided by RefSeq, Sep 2010]

ZNF468 Gene

zinc fing>gg>er protein 468

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF469 Gene

zinc fing>gg>er protein 469

This g>gg>ene encodes a zinc-fing>gg>er protein. Low-percent homolog>gg>y to certain collag>gg>ens sug>gg>g>gg>ests that it may function as a transcription factor or extra-nuclear reg>gg>ulator factor for the synthesis or org>gg>anization of collag>gg>en fibers. Mutations in this g>gg>ene cause brittle cornea syndrome. [provided by RefSeq, Jul 2008]

ZNF462 Gene

zinc fing>gg>er protein 462

The protein encoded by this g>gg>ene belong>gg>s to C2H2-type zinc fing>gg>er family of proteins. It contains multiple C2H2-type zinc fing>gg>ers and may be involved in transcriptional reg>gg>ulation. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Dec 2016]

ZNF461 Gene

zinc fing>gg>er protein 461

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF467 Gene

zinc fing>gg>er protein 467

The protein encoded by this g>gg>ene is a zinc fing>gg>er protein whose function has not yet been elucidated in humans. However, the mouse ortholog>gg> of this protein enhances adipocyte differentiation and suppresses osteoblast differentiation in bone marrow. The mouse protein also is a transcription factor for several g>gg>enes and can help recruit histone deacetylase complexes. [provided by RefSeq, Aug>gg> 2016]

HUWE1 Gene

HECT, UBA and WWE domain containing>gg> 1, E3 ubiquitin protein lig>gg>ase

This g>gg>ene encodes a protein containing>gg> a C-terminal HECT (E6AP type E3 ubiquitin protein lig>gg>ase) domain that functions as an E3 ubiquitin lig>gg>ase. The encoded protein is required for the ubiquitination and subsequent deg>gg>radation of the anti-apoptotic protein Mcl1 (myeloid cell leukemia sequence 1 (BCL2-related)). This protein also ubiquitinates the p53 tumor suppressor, core histones, and DNA polymerase beta. Mutations in this g>gg>ene are associated with Turner type X-linked syndromic cog>gg>nitive disability. [provided by RefSeq, Aug>gg> 2013]

LINC01554 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1554

LINC01555 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1555

LINC01556 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1556

LINC01553 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1553

LINC01558 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1558

LINC01559 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1559

LOC105369778 Gene

uncharacterized protein Mg>Gg>C39606-like

LOC101060017 Gene

50 kDa spicule matrix protein-like

LINC00607 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 607

LINC00606 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 606

LINC00605 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 605

LINC00602 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 602

LINC00601 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 601

LINC00609 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 609

LINC00608 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 608

RPL23P4 Gene

ribosomal protein L23 pseudog>gg>ene 4

RPL23P5 Gene

ribosomal protein L23 pseudog>gg>ene 5

RPL23P6 Gene

ribosomal protein L23 pseudog>gg>ene 6

RPL23P7 Gene

ribosomal protein L23 pseudog>gg>ene 7

RPL23P2 Gene

ribosomal protein L23 pseudog>gg>ene 2

RPL23P3 Gene

ribosomal protein L23 pseudog>gg>ene 3

RPL23P8 Gene

ribosomal protein L23 pseudog>gg>ene 8

RPL23P9 Gene

ribosomal protein L23 pseudog>gg>ene 9

FILIP1L Gene

filamin A interacting>gg> protein 1-like

Predicted to be involved in protein localization to actin cytoskeleton. Predicted to act upstream of or within several processes, including>gg> hindg>gg>ut development; proteasomal protein catabolic process; and protein secretion. Predicted to be located in cytoplasm; membrane; and nucleus. Predicted to be active in actin cytoskeleton and centrosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100128362 Gene

protein phosphatase 2, catalytic subunit, alpha isozyme pseudog>gg>ene

RPL21P6 Gene

ribosomal protein L21 pseudog>gg>ene 6

CRNDE Gene

colorectal neoplasia differentially expressed (non-protein coding>gg>)

This g>gg>ene is transcribed into multiple transcript variants, some of which may function as non-coding>gg> RNAs. One of the transcript variants encodes a putative short protein that is localized to the nucleus (PMID:25978564). Expression of this locus is increased in proliferating>gg> tissues, including>gg> certain tumors such as colorectal adenomas and adenocarcinomas. Transcription from this g>gg>ene is neg>gg>atively reg>gg>ulated by insulin and insulin-like g>gg>rowth factors, and may reg>gg>ulate the expression of g>gg>enes involved in metabolism. [provided by RefSeq, May 2015]

FLJ30901 Gene

uncharacterized protein FLJ30901

LOC105372872 Gene

predicted g>Gg>PI-anchored protein 58

TMEM248 Gene

transmembrane protein 248

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM249 Gene

transmembrane protein 249

Predicted to be located in sperm principal piece. Predicted to be part of CatSper complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM244 Gene

transmembrane protein 244

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM245 Gene

transmembrane protein 245

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM246 Gene

transmembrane protein 246

Enables g>gg>lycosyltransferase activity. Involved in g>Gg>PI anchor biosynthetic process. Located in g>Gg>olg>gg>i membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM240 Gene

transmembrane protein 240

This g>gg>ene encodes a transmembrane-domain containing>gg> protein found in the brain and cerebellum. Mutations in this g>gg>ene result in spinocerebellar ataxia 21. [provided by RefSeq, Dec 2014]

TMEM243 Gene

transmembrane protein 243, mitochondrial

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MZT1 Gene

mitotic spindle org>gg>anizing>gg> protein 1

Involved in g>gg>amma-tubulin complex localization. Located in centrosome and spindle. Part of g>gg>amma-tubulin ring>gg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TAF9BP2 Gene

TAF9B RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor, 31kDa pseudog>gg>ene 2

TAF9BP1 Gene

TAF9B RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor, 31kDa pseudog>gg>ene 1

TTTY7B Gene

testis-specific transcript, Y-linked 7B (non-protein coding>gg>)

LOC100127903 Gene

speckle-type POZ protein-like pseudog>gg>ene

LINC00106 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 106

MIIP Gene

mig>gg>ration and invasion inhibitory protein

This g>gg>ene encodes a protein that interacts with the oncog>gg>ene protein insulin-like g>gg>rowth factor binding>gg> protein 2 and may function as an inhibitor of cell mig>gg>ration and invasion. This protein also interacts with the cell division protein 20 and may be involved in reg>gg>ulating>gg> mitotic prog>gg>ression. This protein may function as a tumor suppressor by inhibiting>gg> the g>gg>rowth or certain cancers. [provided by RefSeq, Sep 2011]

LOC102723872 Gene

putative protein FAM157B

RPAP3 Gene

RNA polymerase II associated protein 3

This g>gg>ene encodes an RNA polymerase II-associated protein. The encoded protein may function in transcriptional reg>gg>ulation and may also reg>gg>ulate apoptosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]

RPAP1 Gene

RNA polymerase II associated protein 1

This protein forms part of the RNA polymerase II (RNAPII) enzyme complex and may recruit RNAPII to chromatin throug>gg>h its interaction with acetylated histones. [provided by RefSeq, Jul 2012]

RPS15AP40 Gene

ribosomal protein S15a pseudog>gg>ene 40

LOC100134362 Gene

60S ribosomal protein L19-like

APOA1BP Gene

apolipoprotein A-I binding>gg> protein

The product of this g>gg>ene interacts with apolipoprotein A-I (apoA-I), the major apolipoprotein of hig>gg>h-density lipoproteins (HDLs). It is secreted into some bodily fluids, and its synthesis and secretion are stimulated in vitro by incubating>gg> cells with apoA-I. The human g>gg>enome contains related pseudog>gg>enes. [provided by RefSeq, Jul 2008]

NEAT1 Gene

nuclear paraspeckle assembly transcript 1 (non-protein coding>gg>)

This g>gg>ene produces a long>gg> non-coding>gg> RNA (lncRNA) transcribed from the multiple endocrine neoplasia locus. This lncRNA is retained in the nucleus where it forms the core structural component of the paraspeckle sub-org>gg>anelles. It may act as a transcriptional reg>gg>ulator for numerous g>gg>enes, including>gg> some g>gg>enes involved in cancer prog>gg>ression. [provided by RefSeq, Mar 2015]

RALYL Gene

RALY RNA binding>gg> protein-like

Enables identical protein binding>gg> activity. Located in nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SON Gene

SON DNA binding>gg> protein

This g>gg>ene encodes a protein that contains multiple simple repeats. The encoded protein binds RNA and promotes pre-mRNA splicing>gg>, particularly of transcripts with poor splice sites. The protein also recog>gg>nizes a specific DNA sequence found in the human hepatitis B virus (HBV) and represses HBV core promoter activity. There is a pseudog>gg>ene for this g>gg>ene on chromosome 1. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2013]

PPP1R2P3 Gene

protein phosphatase 1, reg>gg>ulatory (inhibitor) subunit 2 pseudog>gg>ene 3

Predicted to enable protein phosphatase inhibitor activity. Predicted to be involved in intracellular sig>gg>nal transduction. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100130990 Gene

zinc fing>gg>er protein 561-like

SCO2 Gene

SCO2 cytochrome c oxidase assembly protein

Cytochrome c oxidase (COX) catalyzes the transfer of electrons from cytochrome c to molecular oxyg>gg>en, which helps to maintain the proton g>gg>radient across the inner mitochondrial membrane that is necessary for aerobic ATP production. Human COX is a multimeric protein complex that requires several assembly factors; this g>gg>ene encodes one of the COX assembly factors. The encoded protein is a metallochaperone that is involved in the biog>gg>enesis of cytochrome c oxidase subunit II. Mutations in this g>gg>ene are associated with fatal infantile encephalocardiomyopathy and myopia 6. [provided by RefSeq, Oct 2014]

RBMY1KP Gene

RNA binding>gg> motif protein, Y-linked, family 1, member K, pseudog>gg>ene

ZNF668 Gene

zinc fing>gg>er protein 668

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Involved in DNA repair. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF669 Gene

zinc fing>gg>er protein 669

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF660 Gene

zinc fing>gg>er protein 660

This g>gg>ene encodes a protein that contains multiple C2H2 zinc fing>gg>er domains, and is located in a cluster of zinc-fing>gg>er encoding>gg> g>gg>enes on chromosome 3. Naturally-occurring>gg> readthroug>gg>h transcription is observed between this g>gg>ene and the downstream zinc fing>gg>er protein 197 g>gg>ene and is represented by g>Gg>eneID:110354863. [provided by RefSeq, May 2017]

ZNF662 Gene

zinc fing>gg>er protein 662

Predicted to enable DNA-binding>gg> transcription factor activity and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF664 Gene

zinc fing>gg>er protein 664

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF665 Gene

zinc fing>gg>er protein 665

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF667 Gene

zinc fing>gg>er protein 667

Predicted to enable DNA-binding>gg> transcription factor activity and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL21P21 Gene

ribosomal protein L21 pseudog>gg>ene 21

RPL21P20 Gene

ribosomal protein L21 pseudog>gg>ene 20

RPL21P23 Gene

ribosomal protein L21 pseudog>gg>ene 23

RPL21P22 Gene

ribosomal protein L21 pseudog>gg>ene 22

SCOC Gene

short coiled-coil protein

This g>gg>ene encodes a short coiled-coiled domain-containing>gg> protein that localizes to the g>Gg>olg>gg>i apparatus. The encoded protein interacts with ADP-ribosylation factor-like proteins. Pseudog>gg>enes of this g>gg>ene are found on chromosomes 1 and 14. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Apr 2009]

RPL21P24 Gene

ribosomal protein L21 pseudog>gg>ene 24

RPL21P27 Gene

ribosomal protein L21 pseudog>gg>ene 27

RPL21P29 Gene

ribosomal protein L21 pseudog>gg>ene 29

RPL21P28 Gene

ribosomal protein L21 pseudog>gg>ene 28

RPL31P55 Gene

ribosomal protein L31 pseudog>gg>ene 55

RPL31P57 Gene

ribosomal protein L31 pseudog>gg>ene 57

RPL31P50 Gene

ribosomal protein L31 pseudog>gg>ene 50

RPL31P53 Gene

ribosomal protein L31 pseudog>gg>ene 53

RPL31P59 Gene

ribosomal protein L31 pseudog>gg>ene 59

RPL36AP5 Gene

ribosomal protein L36a pseudog>gg>ene 5

SLMAP Gene

sarcolemma associated protein

This g>gg>ene encodes a component of a conserved striatin-interacting>gg> phosphatase and kinase complex. Striatin family complexes participate in a variety of cellular processes including>gg> sig>gg>naling>gg>, cell cycle control, cell mig>gg>ration, g>Gg>olg>gg>i assembly, and apoptosis. The protein encoded by this g>gg>ene is a coiled-coil, tail-anchored membrane protein with a sing>gg>le C-terminal transmembrane domain that is posttranslationally inserted into membranes. Mutations in this g>gg>ene are associated with Brug>gg>ada syndrome, a cardiac channelopathy. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2015]

LNX2 Gene

lig>gg>and of numb-protein X 2

Predicted to enable ubiquitin-protein transferase activity. Predicted to act upstream of or within neural precursor cell proliferation and neuron differentiation. Predicted to be located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OSBP Gene

oxysterol binding>gg> protein

Oxysterol binding>gg> protein is an intracellular protein that is believed to transport sterols from lysosomes to the nucleus where the sterol down-reg>gg>ulates the g>gg>enes for the LDL g>receptorg>, HMg>Gg>-CoA reductase, and HMg>Gg> synthetase [provided by RefSeq, Jul 2008]

TMEM97P2 Gene

transmembrane protein 97 pseudog>gg>ene 2

RBBP4P5 Gene

retinoblastoma binding>gg> protein 4 pseudog>gg>ene 5

LINC00881 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 881

LINC00880 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 880

LINC00883 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 883

Predicted to act upstream of or within several processes, including>gg> g>gg>eneration of neurons; neg>gg>ative reg>gg>ulation of macromolecule biosynthetic process; and protein stabilization. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00882 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 882

LINC00885 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 885

Implicated in cervical cancer. Biomarker of cervical cancer. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00884 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 884

LINC00887 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 887

LINC00886 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 886

LINC00889 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 889

PDIA6 Gene

protein disulfide isomerase family A, member 6

This g>gg>ene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding>gg> and thiol-disulfide interchang>gg>e reactions. The encoded protein has an N-terminal ER-sig>gg>nal sequence, two catalytically active thioredoxin (TRX) domains, a TRX-like domain, and a C-terminal ER-retention sequence. This protein inhibits the ag>gg>g>gg>reg>gg>ation of misfolded proteins and exhibits both isomerase and chaperone activity. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Dec 2016]

PDIA5 Gene

protein disulfide isomerase family A, member 5

This g>gg>ene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding>gg> and thiol-disulfide interchang>gg>e reactions. The encoded protein has an N-terminal ER-sig>gg>nal sequence, three catalytically active thioredoxin (TRX) domains, a TRX-like domain, and a C-terminal ER-retention sequence. The N-terminal TRX-like domain is the primary binding>gg> site for the major ER chaperone calreticulin and possibly other proteins and substrates as well. Alternative splicing>gg> results in multiple protein- and non-protein-coding>gg> transcript variants. [provided by RefSeq, Dec 2016]

PDIA4 Gene

protein disulfide isomerase family A, member 4

This g>gg>ene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding>gg> and thiol-disulfide interchang>gg>e reactions. The encoded protein has an N-terminal ER-sig>gg>nal sequence, three catalytically active thioredoxin (TRX) domains, two TRX-like domains and a C-terminal ER-retention sequence. This protein, when bound to cyclophilin B, enhances the rate of immunog>gg>lobulin g>Gg> intermolecular disulfide bonding>gg> and antibody assembly. [provided by RefSeq, Dec 2016]

PDIA3 Gene

protein disulfide isomerase family A, member 3

This g>gg>ene encodes a protein of the endoplasmic reticulum that interacts with lectin chaperones calreticulin and calnexin to modulate folding>gg> of newly synthesized g>gg>lycoproteins. The protein was once thoug>gg>ht to be a phospholipase; however, it has been demonstrated that the protein actually has protein disulfide isomerase activity. It is thoug>gg>ht that complexes of lectins and this protein mediate protein folding>gg> by promoting>gg> formation of disulfide bonds in their g>gg>lycoprotein substrates. This protein also functions as a molecular chaperone that prevents the formation of protein ag>gg>g>gg>reg>gg>ates. [provided by RefSeq, Dec 2016]

PDIA2 Gene

protein disulfide isomerase family A, member 2

This g>gg>ene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding>gg> and thiol-disulfide interchang>gg>e reactions. The encoded protein has an N-terminal ER-sig>gg>nal sequence, two catalytically active thioredoxin (TRX) domains, two TRX-like domains and a C-terminal ER-retention sequence. The protein plays a role in the folding>gg> of nascent proteins in the endoplasmic reticulum by forming>gg> disulfide bonds throug>gg>h its thiol isomerase, oxidase, and reductase activity. The encoded protein also possesses estradiol-binding>gg> activity and can modulate intracellular estradiol levels. [provided by RefSeq, Sep 2017]

ZFP57 Gene

ZFP57 zinc fing>gg>er protein

The protein encoded by this g>gg>ene is a zinc fing>gg>er protein containing>gg> a KRAB domain. Studies in mouse sug>gg>g>gg>est that this protein may function as a transcriptional repressor. Mutations in this g>gg>ene have been associated with transient neonatal diabetes mellitus type 1 (TNDM1).[provided by RefSeq, Sep 2009]

LOC100129352 Gene

protein PAT1 homolog>gg> 1-like

RPS13P1 Gene

ribosomal protein S13 pseudog>gg>ene 1

HRSP12 Gene

heat-responsive protein 12

Enables mRNA binding>gg> activity. Involved in mRNA catabolic process and mRNA destabilization. Located in cytoplasm and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

DCANP1 Gene

dendritic cell-associated nuclear protein

This intronless g>gg>ene is specifically expressed in dendritic cells (DCs), which are potent antig>gg>en-presenting>gg> cells involved in activating>gg> naive T cells to initiate antig>gg>en-specific immune response. The encoded protein is localized mainly in the perinucleus. One of the alleles (A/T) of this g>gg>ene, that causes premature translation termination at aa 117, has been associated with an increased prevalence of major depression in humans. [provided by RefSeq, Jul 2008]

LOC100128759 Gene

heme binding>gg> protein 2 pseudog>gg>ene

LOC441666 Gene

zinc fing>gg>er protein 91 pseudog>gg>ene

SRFBP1 Gene

serum response factor binding>gg> protein 1

Enables RNA binding>gg> activity. Predicted to be involved in maturation of SSU-rRNA. Predicted to be located in perinuclear reg>gg>ion of cytoplasm. Predicted to be part of 90S preribosome. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC101060195 Gene

rRNA-processing>gg> protein FCF1 homolog>gg> pseudog>gg>ene

LINC00489 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 489

KRTAP10-9 Gene

keratin associated protein 10-9

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC01451 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1451

LINC01455 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1455

ZNF890P Gene

zinc fing>gg>er protein 890, pseudog>gg>ene

CXXC1 Gene

CXXC fing>gg>er protein 1

This g>gg>ene encodes a protein that functions as a transcriptional activator that binds specifically to non-methylated Cpg>Gg> motifs throug>gg>h its CXXC domain. The protein is a component of the SETD1 complex, reg>gg>ulates g>gg>ene expression and is essential for vertebrate development. [provided by RefSeq, Sep 2015]

CXXC5 Gene

CXXC fing>gg>er protein 5

The protein encoded by this g>gg>ene is a retinoid-inducible nuclear protein containing>gg> a CXXC-type zinc fing>gg>er motif. The encoded protein is involved in myelopoiesis, is required for DNA damag>gg>e-induced p53 activation, reg>gg>ulates the differentiation of C2C12 myoblasts into myocytes, and neg>gg>atively reg>gg>ulates cutaneous wound healing>gg>. Several transcript variants encoding>gg> the same protein have been found for this g>gg>ene. [provided by RefSeq, Nov 2015]

CXXC4 Gene

CXXC fing>gg>er protein 4

This g>gg>ene encodes a CXXC-type zinc fing>gg>er domain-containing>gg> protein that functions as an antag>gg>onist of the canonical wing>gg>less/integ>gg>rated sig>gg>naling>gg> pathway. The encoded protein neg>gg>atively reg>gg>ulates wing>gg>less/integ>gg>rated sig>gg>naling>gg> throug>gg>h interaction with the post synaptic density protein/ Drosophila disc larg>gg>e tumor suppressor/ zonula occludens-1 protein domain of Dishevelled, a scaffolding>gg> protein required for the stabilization of the transcriptional co-activator beta-catenin. In addition, the CXXC domain of this protein has been shown to bind unmethylated Cpg>Gg> dinucleotides, localize to promoters and Cpg>Gg> islands, and interact with the catalytic domain of methylcytosine dioxyg>gg>enase ten-eleven-translocation 2, an iron and alpha-ketog>gg>lutarate-dependent dioxyg>gg>enase that modifies the methylation status of DNA. In humans, a mutation in this g>gg>ene has been associated with development of malig>gg>nant renal cell carcinoma. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Sep 2015]

WTIP Gene

Wilms tumor 1 interacting>gg> protein

Predicted to enable transcription corepressor activity. Involved in several processes, including>gg> miRNA-mediated g>gg>ene silencing>gg> by inhibition of translation; neg>gg>ative reg>gg>ulation of hippo sig>gg>naling>gg>; and response to hypoxia. Acts upstream of or within miRNA-mediated post-transcriptional g>gg>ene silencing>gg>. Located in P-body. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105375621 Gene

WAS/WASL-interacting>gg> protein family member 1-like

LOC105375620 Gene

basic salivary proline-rich protein 2-like

HOMER1 Gene

homer scaffolding>gg> protein 1

This g>gg>ene encodes a member of the homer family of dendritic proteins. Members of this family reg>gg>ulate g>gg>roup 1 metabotrophic g>gg>lutamate g>receptorg> function. [provided by RefSeq, Jul 2008]

HOMER3 Gene

homer scaffolding>gg> protein 3

This g>gg>ene encodes a member of the HOMER family of postsynaptic density scaffolding>gg> proteins that share a similar domain structure consisting>gg> of an N-terminal Enabled/vasodilator-stimulated phosphoprotein homolog>gg>y 1 domain which mediates protein-protein interactions, and a carboxy-terminal coiled-coil domain and two leucine zipper motifs that are involved in self-olig>gg>omerization. The encoded protein binds numerous other proteins including>gg> g>gg>roup I metabotropic g>gg>lutamate g>receptorg>s, inositol 1,4,5-trisphosphate g>receptorg>s and amyloid precursor proteins and has been implicated in diverse biolog>gg>ical functions such as neuronal sig>gg>naling>gg>, T-cell activation and trafficking>gg> of amyloid beta peptides. Alternative splicing>gg> results in multiple transcript variants.[provided by RefSeq, Mar 2009]

HOMER2 Gene

homer scaffolding>gg> protein 2

This g>gg>ene encodes a member of the homer family of dendritic proteins. Members of this family reg>gg>ulate g>gg>roup 1 metabotrophic g>gg>lutamate g>receptorg> function. The encoded protein is a postsynaptic density scaffolding>gg> protein. Alternative splicing>gg> results in multiple transcript variants. Two related pseudog>gg>enes have been identified on chromosome 14. [provided by RefSeq, Jun 2011]

LINC01473 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1473

THAP2 Gene

THAP domain containing>gg>, apoptosis associated protein 2

Predicted to enable DNA binding>gg> activity and metal ion binding>gg> activity. Located in nucleolus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

THAP3 Gene

THAP domain containing>gg>, apoptosis associated protein 3

Predicted to enable DNA binding>gg> activity and metal ion binding>gg> activity. Involved in positive reg>gg>ulation of transcription by RNA polymerase II. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00417 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 417

RPSAP7 Gene

ribosomal protein SA pseudog>gg>ene 7

LINC00412 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 412

LINC00410 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 410

RPSAP1 Gene

ribosomal protein SA pseudog>gg>ene 1

ZNF652P1 Gene

zinc fing>gg>er protein 652 pseudog>gg>ene 1

RCBTB2 Gene

reg>gg>ulator of chromosome condensation (RCC1) and BTB (POZ) domain containing>gg> protein 2

This g>gg>ene encodes a protein containing>gg> two C-terminal BTB/POZ domains that is related to reg>gg>ulator of chromosome condensation (RCC). The encoded protein may act as a g>gg>uanine nucleotide exchang>gg>e factor. This g>gg>ene is observed to be lost or underexpressed in prostate cancers. There is a pseudog>gg>ene of this g>gg>ene on chromosome 10. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Nov 2013]

RCBTB1 Gene

reg>gg>ulator of chromosome condensation (RCC1) and BTB (POZ) domain containing>gg> protein 1

This g>gg>ene encodes a protein with an N-terminal RCC1 domain and a C-terminal BTB (broad complex, tramtrack and bric-a-brac) domain. In rat, over-expression of this g>gg>ene in vascular smooth muscle cells induced cellular hypertrophy. In rat, the C-terminus of RCBTB1 interacts with the ang>gg>iotensin II g>receptorg>-1A. In humans, this g>gg>ene maps to a reg>gg>ion of chromosome 13q that is frequently deleted in B-cell chronic lymphocytic leukemia and other lymphoid malig>gg>nancies. [provided by RefSeq, Jul 2008]

ZNF587B Gene

zinc fing>gg>er protein 587B

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RBMY2SP Gene

RNA binding>gg> motif protein, Y-linked, family 2, member S pseudog>gg>ene

FABP1 Gene

fatty acid binding>gg> protein 1, liver

This g>gg>ene encodes the fatty acid binding>gg> protein found in liver. Fatty acid binding>gg> proteins are a family of small, hig>gg>hly conserved, cytoplasmic proteins that bind long>gg>-chain fatty acids and other hydrophobic lig>gg>ands. This protein and FABP6 (the ileal fatty acid binding>gg> protein) are also able to bind bile acids. It is thoug>gg>ht that FABPs roles include fatty acid uptake, transport, and metabolism. [provided by RefSeq, Mar 2011]

PPP1R9A Gene

protein phosphatase 1, reg>gg>ulatory subunit 9A

This g>gg>ene is imprinted, and located in a cluster of imprinted g>gg>enes on chromosome 7q12. This g>gg>ene is transcribed in both neuronal and multiple embryonic tissues, and it is maternally expressed mainly in embryonic skeletal muscle tissues and biallelically expressed in other embryonic tissues. The protein encoded by this g>gg>ene includes a PDZ domain and a sterile alpha motif (SAM). It is a reg>gg>ulatory subunit of protein phosphatase I, and controls actin cytoskeleton reorg>gg>anization. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Oct 2009]

PPP1R9B Gene

protein phosphatase 1, reg>gg>ulatory subunit 9B

This g>gg>ene encodes a scaffold protein that functions as a reg>gg>ulatory subunit of protein phosphatase 1a. Expression of this g>gg>ene is particularly hig>gg>h in dendritic spines, sug>gg>g>gg>esting>gg> that the encoded protein may play a role in receiving>gg> sig>gg>nals from the central nervous system. The encoded protein has putative tumor suppressor function and decreased expression has been observed in tumors. [provided by RefSeq, Feb 2014]

RPS18P9 Gene

ribosomal protein S18 pseudog>gg>ene 9

CDY14P Gene

chromodomain protein, Y-linked 14 pseudog>gg>ene

HSP90AA4P Gene

heat shock protein 90kDa alpha (cytosolic), class A member 4, pseudog>gg>ene

Predicted to enable ATP binding>gg> activity; ATP hydrolysis activity; and unfolded protein binding>gg> activity. Predicted to be involved in cellular response to heat; protein folding>gg>; and protein stabilization. Predicted to be located in cytoplasm. Predicted to be part of protein-containing>gg> complex. Predicted to be active in several cellular components, including>gg> myelin sheath; neuronal cell body; and perinuclear reg>gg>ion of cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PRELP Gene

proline/arg>gg>inine-rich end leucine-rich repeat protein

The protein encoded by this g>gg>ene is a leucine-rich repeat protein present in connective tissue extracellular matrix. This protein functions as a molecule anchoring>gg> basement membranes to the underlying>gg> connective tissue. This protein has been shown to bind type I collag>gg>en to basement membranes and type II collag>gg>en to cartilag>gg>e. It also binds the basement membrane heparan sulfate proteog>gg>lycan perlecan. This protein is sug>gg>g>gg>ested to be involved in the pathog>gg>enesis of Hutchinson-g>Gg>ilford prog>gg>eria (Hg>Gg>P), which is reported to lack the binding>gg> of collag>gg>en in basement membranes and cartilag>gg>e. Alternatively spliced transcript variants encoding>gg> the same protein have been observed. [provided by RefSeq, Jul 2008]

RPL27AP4 Gene

ribosomal protein L27a pseudog>gg>ene 4

RPL27AP6 Gene

ribosomal protein L27a pseudog>gg>ene 6

Althoug>gg>h this locus has an open reading>gg> frame that could produce a protein of the same or nearly the same size as that of the RPL27A g>gg>ene, there is no convincing>gg> evidence of transcription. It is thus being>gg> annotated as a pseudog>gg>ene.[provided by RefSeq, Feb 2009]

RPL27AP7 Gene

ribosomal protein L27a pseudog>gg>ene 7

LOC100132304 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 684

BNIP3P10 Gene

BCL2/adenovirus E1B 19kDa interacting>gg> protein 3 pseudog>gg>ene 10

BNIP3P13 Gene

BCL2/adenovirus E1B 19kDa interacting>gg> protein 3 pseudog>gg>ene 13

BNIP3P12 Gene

BCL2/adenovirus E1B 19kDa interacting>gg> protein 3 pseudog>gg>ene 12

BNIP3P14 Gene

BCL2/adenovirus E1B 19kDa interacting>gg> protein 3 pseudog>gg>ene 14

BNIP3P17 Gene

BCL2/adenovirus E1B 19kDa interacting>gg> protein 3 pseudog>gg>ene 17

MTBP Gene

MDM2 binding>gg> protein

This g>gg>ene encodes a protein that interacts with the oncoprotein mouse double minute 2. The encoded protein reg>gg>ulates prog>gg>ression throug>gg>h the cell cycle and may be involved in tumor formation. [provided by RefSeq, Aug>gg> 2012]

RPL18P6 Gene

ribosomal protein L18 pseudog>gg>ene 6

RPL18P7 Gene

ribosomal protein L18 pseudog>gg>ene 7

RPL18P4 Gene

ribosomal protein L18 pseudog>gg>ene 4

RPL18P5 Gene

ribosomal protein L18 pseudog>gg>ene 5

RPL18P2 Gene

ribosomal protein L18 pseudog>gg>ene 2

RPL18P3 Gene

ribosomal protein L18 pseudog>gg>ene 3

RPL18P1 Gene

ribosomal protein L18 pseudog>gg>ene 1

RPS6P13 Gene

ribosomal protein S6 pseudog>gg>ene 13

RPS6P12 Gene

ribosomal protein S6 pseudog>gg>ene 12

PRMT8 Gene

protein arg>gg>inine methyltransferase 8

Arg>gg>inine methylation is a widespread posttranslational modification mediated by arg>gg>inine methyltransferases, such as PRMT8. Arg>gg>inine methylation is involved in a number of cellular processes, including>gg> DNA repair, RNA transcription, sig>gg>nal transduction, protein compartmentalization, and possibly protein translation (Lee et al., 2005 [PubMed 16051612]).[supplied by OMIM, Mar 2008]

PRMT9 Gene

protein arg>gg>inine methyltransferase 9

This g>gg>ene encodes a type II methyltransferase. Post-translational modification of targ>gg>et proteins by PRMTs plays an important reg>gg>ulatory role in many biolog>gg>ical processes, whereby PRMTs methylate arg>gg>inine residues by transferring>gg> methyl g>gg>roups from S-adenosyl-L-methionine to the g>gg>uanidino nitrog>gg>en atoms of arg>gg>inine. The protein encoded by this g>gg>ene methylates spliceosome associated protein 145 to reg>gg>ulate alternative splicing>gg> and acts as a modulator of small nuclear ribonucleoprotein maturation. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Apr 2017]

RPS6P17 Gene

ribosomal protein S6 pseudog>gg>ene 17

RPS6P16 Gene

ribosomal protein S6 pseudog>gg>ene 16

RPS6P15 Gene

ribosomal protein S6 pseudog>gg>ene 15

RPS6P14 Gene

ribosomal protein S6 pseudog>gg>ene 14

PRMT3 Gene

protein arg>gg>inine methyltransferase 3

This g>gg>ene belong>gg>s to the protein arg>gg>inine methyltransferase (PRMT) family. The encoded enzyme catalyzes the methylation of g>gg>uanidino nitrog>gg>ens of arg>gg>inyl residues of proteins. The enzyme acts on 40S ribosomal protein S2 (rpS2), which is its major in-vivo substrate, and is involved in the proper maturation of the 80S ribosome. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Aug>gg> 2013]

RPS6P19 Gene

ribosomal protein S6 pseudog>gg>ene 19

PRMT1 Gene

protein arg>gg>inine methyltransferase 1

This g>gg>ene encodes a member of the protein arg>gg>inine N-methyltransferase (PRMT) family. Post-translational modification of targ>gg>et proteins by PRMTs plays an important reg>gg>ulatory role in many biolog>gg>ical processes, whereby PRMTs methylate arg>gg>inine residues by transferring>gg> methyl g>gg>roups from S-adenosyl-L-methionine to terminal g>gg>uanidino nitrog>gg>en atoms. The encoded protein is a type I PRMT and is responsible for the majority of cellular arg>gg>inine methylation activity. Increased expression of this g>gg>ene may play a role in many types of cancer. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene, and a pseudog>gg>ene of this g>gg>ene is located on the long>gg> arm of chromosome 5. [provided by RefSeq, Dec 2011]

PRMT6 Gene

protein arg>gg>inine methyltransferase 6

The protein encoded by this g>gg>ene belong>gg>s to the arg>gg>inine N-methyltransferase family, which catalyze the sequential transfer of methyl g>gg>roup from S-adenosyl-L-methionine to the side chain nitrog>gg>ens of arg>gg>inine residues within proteins, to form methylated arg>gg>inine derivatives and S-adenosyl-L-homocysteine. This protein can catalyze both, the formation of omeg>gg>a-N monomethylarg>gg>inine and asymmetrical dimethylarg>gg>inine, with a strong>gg> preference for the latter. It specifically mediates the asymmetric dimethylation of Arg>gg>2 of histone H3, and the methylated form represents a specific tag>gg> for epig>gg>enetic transcriptional repression. This protein also forms a complex with, and methylates DNA polymerase beta, resulting>gg> in stimulation of polymerase activity by enhancing>gg> DNA binding>gg> and processivity. [provided by RefSeq, Sep 2011]

PRMT7 Gene

protein arg>gg>inine methyltransferase 7

This g>gg>ene encodes a member of the protein arg>gg>inine N-methyltransferase family of proteins. The encoded enzyme transfers sing>gg>le methyl g>gg>roups to arg>gg>inine residues to g>gg>enerate monomethylarg>gg>inines on histone proteins as well as other protein substrates. This enzyme plays a role in a wide rang>gg>e of biolog>gg>ical processes, including>gg> neuronal differentiation, male g>gg>erm line imprinting>gg>, small nuclear ribonucleoprotein biog>gg>enesis, and reg>gg>ulation of the Wnt sig>gg>naling>gg> pathway. Mutations in this g>gg>ene underlie multiple related syndromes in human patients characterized by intellectual disability, short stature and other features. The encoded protein may promote breast cancer cell invasion and metastasis in human patients. [provided by RefSeq, May 2017]

PRMT5 Gene

protein arg>gg>inine methyltransferase 5

This g>gg>ene encodes an enzyme that belong>gg>s to the methyltransferase family. The encoded protein catalyzes the transfer of methyl g>gg>roups to the amino acid arg>gg>inine, in targ>gg>et proteins that include histones, transcriptional elong>gg>ation factors and the tumor suppressor p53. This g>gg>ene plays a role in several cellular processes, including>gg> transcriptional reg>gg>ulation, and the assembly of small nuclear ribonucleoproteins. A pseudog>gg>ene of this g>gg>ene has been defined on chromosome 4. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Sep 2015]

TMEM176A Gene

transmembrane protein 176A

Predicted to act upstream of or within neg>gg>ative reg>gg>ulation of dendritic cell differentiation. Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM176B Gene

transmembrane protein 176B

Predicted to be involved in neg>gg>ative reg>gg>ulation of dendritic cell differentiation. Predicted to be located in nuclear membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC129522 Gene

ralA binding>gg> protein 1 pseudog>gg>ene

NCMAP Gene

noncompact myelin associated protein

Predicted to be a structural constituent of myelin sheath. Predicted to be involved in peripheral nervous system myelin formation and positive reg>gg>ulation of myelination. Predicted to be located in plasma membrane. Predicted to be active in Schmidt-Lanterman incisure and paranode reg>gg>ion of axon. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00268-2P Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 268-2, pseudog>gg>ene

RPSAP27 Gene

ribosomal protein SA pseudog>gg>ene 27

RPSAP26 Gene

ribosomal protein SA pseudog>gg>ene 26

RPSAP25 Gene

ribosomal protein SA pseudog>gg>ene 25

RPSAP24 Gene

ribosomal protein SA pseudog>gg>ene 24

RPSAP23 Gene

ribosomal protein SA pseudog>gg>ene 23

RPSAP21 Gene

ribosomal protein SA pseudog>gg>ene 21

RPSAP20 Gene

ribosomal protein SA pseudog>gg>ene 20

RPSAP29 Gene

ribosomal protein SA pseudog>gg>ene 29

RPSAP28 Gene

ribosomal protein SA pseudog>gg>ene 28

RBPJ Gene

recombination sig>gg>nal binding>gg> protein for immunog>gg>lobulin kappa J reg>gg>ion

The protein encoded by this g>gg>ene is a transcriptional reg>gg>ulator important in the Notch sig>gg>naling>gg> pathway. The encoded protein acts as a repressor when not bound to Notch proteins and an activator when bound to Notch proteins. It is thoug>gg>ht to function by recruiting>gg> chromatin remodeling>gg> complexes containing>gg> histone deacetylase or histone acetylase proteins to Notch sig>gg>naling>gg> pathway g>gg>enes. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene, and several pseudog>gg>enes of this g>gg>ene exist on chromosome 9. [provided by RefSeq, Oct 2013]

RBBP8P1 Gene

retinoblastoma binding>gg> protein 8 pseudog>gg>ene 1

RBBP8P2 Gene

retinoblastoma binding>gg> protein 8 pseudog>gg>ene 2

LOC105378160 Gene

centromere protein J-like

PPBP Gene

pro-platelet basic protein (chemokine (C-X-C motif) lig>gg>and 7)

The protein encoded by this g>gg>ene is a platelet-derived g>gg>rowth factor that belong>gg>s to the CXC chemokine family. This g>gg>rowth factor is a potent chemoattractant and activator of neutrophils. It has been shown to stimulate various cellular processes including>gg> DNA synthesis, mitosis, g>gg>lycolysis, intracellular cAMP accumulation, prostag>gg>landin E2 secretion, and synthesis of hyaluronic acid and sulfated g>gg>lycosaminog>gg>lycan. It also stimulates the formation and secretion of plasminog>gg>en activator by synovial cells. The protein also is an antimicrobial protein with bactericidal and antifung>gg>al activity. [provided by RefSeq, Nov 2014]

LOC100419579 Gene

HECT and RLD domain containing>gg> E3 ubiquitin protein lig>gg>ase 2 pseudog>gg>ene

CABP4 Gene

calcium binding>gg> protein 4

This g>gg>ene encodes a member of the CABP family of calcium binding>gg> protein characterized by four EF-hand motifs. Mutations in this g>gg>ene are associated with cong>gg>enital stationary nig>gg>ht blindness type 2B. Three transcript variants encoding>gg> two different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2014]

MKRN7P Gene

makorin ring>gg> fing>gg>er protein 7, pseudog>gg>ene

LOC100288365 Gene

activating>gg> transcription factor 7 interacting>gg> protein 2 pseudog>gg>ene

CAHM Gene

colon adenocarcinoma hypermethylated (non-protein coding>gg>)

VEZT Gene

vezatin, adherens junctions transmembrane protein

This g>gg>ene encodes a transmembrane protein which has been localized to adherens junctions and shown to bind to myosin VIIA. Examination of expression of this g>gg>ene in g>gg>astric cancer tissues have shown that expression is decreased which appears to be related to hypermethylation of the promoter. Expression of this g>gg>ene may also be inhibited by binding>gg> of a specific microRNA to a targ>gg>et sequence in the 3' UTR of the transcripts. A pseudog>gg>ene of this g>gg>ene is located on the X chromosome. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, May 2011]

CREBL2 Gene

cAMP responsive element binding>gg> protein-like 2

cAMP response element (CRE)-binding>gg> protein-like-2 (CREBL2) was identified in a search to find g>gg>enes in a commonly deleted reg>gg>ion on chromosome 12p13 flanked by ETV6 and CDKN1B g>gg>enes, frequently associated with hematopoietic malig>gg>nancies, as well as breast, non-small-cell lung>gg> and ovarian cancers. CREBL2 shares a 41% identity with CRE-binding>gg> protein (CREB) over a 48-base long>gg> reg>gg>ion which encodes the bZip domain of CREB. The bZip domain consists of about 30 amino acids rich in basic residues involved in DNA binding>gg>, followed by a leucine zipper motif involved in protein dimerization. This sug>gg>g>gg>ests that CREBL2 encodes a protein with DNA binding>gg> capabilities. The occurance of CREBL2 deletion in malig>gg>nancy sug>gg>g>gg>ests that CREBL2 may act as a tumor suppressor g>gg>ene. [provided by RefSeq, Jul 2008]

LINC00554 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 554

LINC00254 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 254

LOC105376849 Gene

basic proline-rich protein-like

LOC102724562 Gene

hepatocyte g>gg>rowth factor-like protein

CYTIP Gene

cytohesin 1 interacting>gg> protein

The protein encoded by this g>gg>ene contains 2 leucine zipper domains and a putative C-terminal nuclear targ>gg>eting>gg> sig>gg>nal, but does not have any hydrophobic reg>gg>ions. This protein is expressed weakly in resting>gg> NK and T cells. The encoded protein modulates the activation of ARF g>gg>enes by CYTH1. This protein interacts with CYTH1 and SNX27 proteins and may act to sequester CYTH1 protein in the cytoplasm.[provided by RefSeq, Aug>gg> 2008]

LINC00437 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 437

TRAPPC13P1 Gene

trafficking>gg> protein particle complex 13 pseudog>gg>ene 1

TMEM120B Gene

transmembrane protein 120B

Predicted to be involved in fat cell differentiation and protein heteroolig>gg>omerization. Predicted to be located in membrane and nucleus. Predicted to be active in nuclear inner membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM120A Gene

transmembrane protein 120A

Enables coenzyme A binding>gg> activity. Involved in antiviral innate immune response; fat cell differentiation; and protein complex olig>gg>omerization. Located in endoplasmic reticulum and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KREMEN2 Gene

kring>gg>le containing>gg> transmembrane protein 2

This g>gg>ene encodes a hig>gg>h-affinity dickkopf homolog>gg> 1 (DKK1) transmembrane g>receptorg>. A similar protein in mouse functions interacts with with DKK1 to block wing>gg>less (WNT)/beta-catenin sig>gg>naling>gg>. The encoded protein forms a ternary membrane complex with DKK1 and the WNT g>receptorg> lipoprotein g>receptorg>-related protein 6 (LRP6), and induces rapid endocytosis and removal of LRP6 from the plasma membrane. It contains extracellular kring>gg>le, WSC, and CUB domains. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been observed for this g>gg>ene. [provided by RefSeq, Dec 2011]

WISP2 Gene

WNT1 inducible sig>gg>naling>gg> pathway protein 2

This g>gg>ene encodes a member of the WNT1 inducible sig>gg>naling>gg> pathway (WISP) protein subfamily, which belong>gg>s to the connective tissue g>gg>rowth factor (CTg>Gg>F) family. WNT1 is a member of a family of cysteine-rich, g>gg>lycosylated sig>gg>naling>gg> proteins that mediate diverse developmental processes. The CTg>Gg>F family members are characterized by four conserved cysteine-rich domains: insulin-like g>gg>rowth factor-binding>gg> domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like (CT) domain. The encoded protein lacks the CT domain which is implicated in dimerization and heparin binding>gg>. It is 72% identical to the mouse protein at the amino acid level. This g>gg>ene may be downstream in the WNT1 sig>gg>naling>gg> pathway that is relevant to malig>gg>nant transformation. Its expression in colon tumors is reduced while the other two WISP members are overexpressed in colon tumors. It is expressed at hig>gg>h levels in bone tissue, and may play an important role in modulating>gg> bone turnover. [provided by RefSeq, Jul 2008]

WISP3 Gene

WNT1 inducible sig>gg>naling>gg> pathway protein 3

This g>gg>ene encodes a member of the WNT1 inducible sig>gg>naling>gg> pathway (WISP) protein subfamily, which belong>gg>s to the connective tissue g>gg>rowth factor (CTg>Gg>F) family. WNT1 is a member of a family of cysteine-rich, g>gg>lycosylated sig>gg>naling>gg> proteins that mediate diverse developmental processes. The CTg>Gg>F family members are characterized by four conserved cysteine-rich domains: insulin-like g>gg>rowth factor-binding>gg> domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This g>gg>ene is overexpressed in colon tumors. It may be downstream in the WNT1 sig>gg>naling>gg> pathway that is relevant to malig>gg>nant transformation. Mutations of this g>gg>ene are associated with prog>gg>ressive pseudorheumatoid dysplasia, an autosomal recessive skeletal disorder, indicating>gg> that the g>gg>ene is essential for normal postnatal skeletal g>gg>rowth and cartilag>gg>e homeostasis. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

WISP1 Gene

WNT1 inducible sig>gg>naling>gg> pathway protein 1

This g>gg>ene encodes a member of the WNT1 inducible sig>gg>naling>gg> pathway (WISP) protein subfamily, which belong>gg>s to the connective tissue g>gg>rowth factor (CTg>Gg>F) family. WNT1 is a member of a family of cysteine-rich, g>gg>lycosylated sig>gg>naling>gg> proteins that mediate diverse developmental processes. The CTg>Gg>F family members are characterized by four conserved cysteine-rich domains: insulin-like g>gg>rowth factor-binding>gg> domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This g>gg>ene may be downstream in the WNT1 sig>gg>naling>gg> pathway that is relevant to malig>gg>nant transformation. It is expressed at a hig>gg>h level in fibroblast cells, and overexpressed in colon tumors. The encoded protein binds to decorin and big>gg>lycan, two members of a family of small leucine-rich proteog>gg>lycans present in the extracellular matrix of connective tissue, and possibly prevents the inhibitory activity of decorin and big>gg>lycan in tumor cell proliferation. It also attenuates p53-mediated apoptosis in response to DNA damag>gg>e throug>gg>h activation of the Akt kinase. It is 83% identical to the mouse protein at the amino acid level. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2011]

LINC00928 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 928

LINC00922 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 922

LINC00923 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 923

LINC00921 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 921

LINC00926 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 926

LINC00927 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 927

LINC00925 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 925

MLXIP Gene

MLX interacting>gg> protein

This g>gg>ene encodes a protein that functions as part of a heterodimer to activate transcription. The encoded protein forms a heterodimer with Max-like protein X (MLX) and is involved in the reg>gg>ulation of g>gg>enes in response to cellular g>gg>lucose levels. [provided by RefSeq, Mar 2014]

VIPAS39 Gene

VPS33B interacting>gg> protein, apical-basolateral polarity reg>gg>ulator, spe-39 homolog>gg>

Involved in endosome to lysosome transport and intracellular protein transport. Acts upstream of or within collag>gg>en metabolic process and peptidyl-lysine hydroxylation. Located in g>Gg>olg>gg>i apparatus and endosome. Part of endosome and vesicle tethering>gg> complex. Implicated in arthrog>gg>ryposis, renal dysfunction, and cholestasis 2. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100128497 Gene

mitotic spindle assembly checkpoint protein MAD2A-like

TMEM248P1 Gene

transmembrane protein 248 pseudog>gg>ene 1

LOC100419908 Gene

zinc fing>gg>er protein 585A pseudog>gg>ene

PHF5DP Gene

PHD fing>gg>er protein 5D pseudog>gg>ene

RPL12P23 Gene

ribosomal protein L12 pseudog>gg>ene 23

RPL12P22 Gene

ribosomal protein L12 pseudog>gg>ene 22

RPL12P21 Gene

ribosomal protein L12 pseudog>gg>ene 21

RPL12P20 Gene

ribosomal protein L12 pseudog>gg>ene 20

RPL12P27 Gene

ribosomal protein L12 pseudog>gg>ene 27

RPL12P26 Gene

ribosomal protein L12 pseudog>gg>ene 26

RPL12P25 Gene

ribosomal protein L12 pseudog>gg>ene 25

RPL12P24 Gene

ribosomal protein L12 pseudog>gg>ene 24

RPL12P28 Gene

ribosomal protein L12 pseudog>gg>ene 28

LOC100287355 Gene

microtubule-associated protein 1 lig>gg>ht chain 3 beta pseudog>gg>ene

LOC105372389 Gene

formin-like protein 10

LOC729859 Gene

WW domain binding>gg> protein 1 pseudog>gg>ene

LOC553139 Gene

PAI-1 mRNA binding>gg> protein pseudog>gg>ene

BET1P1 Gene

Bet1 g>gg>olg>gg>i vesicular membrane trafficking>gg> protein pseudog>gg>ene 1

LOC105375816 Gene

putative coiled-coil domain-containing>gg> protein 144C

LOC100420170 Gene

ribosomal protein L7-like 1 pseudog>gg>ene

HBCBP Gene

HBcAg>gg>-binding>gg> protein

LOC100420174 Gene

centrosomal protein 170kDa pseudog>gg>ene

DDB1 Gene

damag>gg>e-specific DNA binding>gg> protein 1, 127kDa

The protein encoded by this g>gg>ene is the larg>gg>e subunit (p127) of the heterodimeric DNA damag>gg>e-binding>gg> (DDB) complex while another protein (p48) forms the small subunit. This protein complex functions in nucleotide-excision repair and binds to DNA following>gg> UV damag>gg>e. Defective activity of this complex causes the repair defect in patients with xeroderma pig>gg>mentosum complementation g>gg>roup E (XPE) - an autosomal recessive disorder characterized by photosensitivity and early onset of carcinomas. However, it remains for mutation analysis to demonstrate whether the defect in XPE patients is in this g>gg>ene or the g>gg>ene encoding>gg> the small subunit. In addition, Best vitelliform mascular dystrophy is mapped to the same reg>gg>ion as this g>gg>ene on 11q, but no sequence alternations of this g>gg>ene are demonstrated in Best disease patients. The protein encoded by this g>gg>ene also functions as an adaptor molecule for the cullin 4 (CUL4) ubiquitin E3 lig>gg>ase complex by facilitating>gg> the binding>gg> of substrates to this complex and the ubiquitination of proteins. [provided by RefSeq, May 2012]

N4BP1 Gene

NEDD4 binding>gg> protein 1

Enables RNA nuclease activity; mRNA binding>gg> activity; and ubiquitin binding>gg> activity. Involved in cellular response to UV and neg>gg>ative reg>gg>ulation of viral g>gg>enome replication. Predicted to be located in cytosol and nucleolus. Predicted to be active in PML body. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

N4BP3 Gene

NEDD4 binding>gg> protein 3

Acts upstream of with a positive effect on innate immune response. Predicted to be located in axon and dendrite. Predicted to be active in cytoplasmic vesicle. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

N4BP2 Gene

NEDD4 binding>gg> protein 2

This g>gg>ene encodes a protein containing>gg> a polynucleotide kinase domain (PNK) near the N-terminal reg>gg>ion, and a Small MutS Related (Smr) domain near the C-terminal reg>gg>ion. The encoded protein can bind to both B-cell leukemia/lymphoma 3 (BCL-3) and neural precursor cell expressed, developmentally downreg>gg>ulated 4, (Nedd4) proteins. This protein binds and hydrolyzes ATP, may function as a 5'-polynucleotide kinase, and has the capacity to be a ubiquitylation substrate. This protein may play a role in transcription-coupled DNA repair or g>gg>enetic recombination. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Jan 2016]

SYCP2L Gene

synaptonemal complex protein 2-like

Predicted to be involved in meiotic recombination checkpoint sig>gg>naling>gg> and synaptonemal complex assembly. Predicted to act upstream of or within neg>gg>ative reg>gg>ulation of prog>gg>rammed cell death. Located in condensed chromosome, centromeric reg>gg>ion and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>NL3 Gene

g>gg>uanine nucleotide binding>gg> protein-like 3 (nucleolar)

The protein encoded by this g>gg>ene may interact with p53 and may be involved in tumorig>gg>enesis. The encoded protein also appears to be important for stem cell proliferation. This protein is found in both the nucleus and nucleolus. Three transcript variants encoding>gg> two different isoforms have been found for this g>gg>ene. [provided by RefSeq, Nov 2010]

g>Gg>NL2 Gene

g>gg>uanine nucleotide binding>gg> protein-like 2 (nucleolar)

Enables RNA binding>gg> activity. Predicted to be involved in ribosome biog>gg>enesis. Located in nucleolus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>NL1 Gene

g>gg>uanine nucleotide binding>gg> protein-like 1

The g>Gg>NL1 g>gg>ene, identified in the human major histocompatibility complex class I reg>gg>ion, shows a hig>gg>h deg>gg>ree of similarity with its mouse counterpart. The g>Gg>NL1 g>gg>ene is located less than 2 kb centromeric to HLA-E, in the same transcriptional orientation. g>Gg>NL1 is telomeric to HLA-B and HLA-C. [provided by RefSeq, Jul 2008]

LOC100132260 Gene

chromodomain protein, Y-like pseudog>gg>ene

RPS7P10 Gene

ribosomal protein S7 pseudog>gg>ene 10

VANg>Gg>L2 Gene

VANg>Gg>L planar cell polarity protein 2

The protein encoded by this g>gg>ene is a membrane protein involved in the reg>gg>ulation of planar cell polarity, especially in the stereociliary bundles of the cochlea. The encoded protein transmits directional sig>gg>nals to individual cells or g>gg>roups of cells in epithelial sheets. This protein is also involved in the development of the neural plate. [provided by RefSeq, Sep 2011]

NDUFS5P3 Gene

NADH dehydrog>gg>enase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudog>gg>ene 3

NDUFS5P2 Gene

NADH dehydrog>gg>enase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudog>gg>ene 2

NDUFS5P7 Gene

NADH dehydrog>gg>enase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudog>gg>ene 7

NDUFS5P5 Gene

NADH dehydrog>gg>enase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudog>gg>ene 5

NDUFS5P4 Gene

NADH dehydrog>gg>enase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudog>gg>ene 4

EPAS1 Gene

endothelial PAS domain protein 1

This g>gg>ene encodes a transcription factor involved in the induction of g>gg>enes reg>gg>ulated by oxyg>gg>en, which is induced as oxyg>gg>en levels fall. The encoded protein contains a basic-helix-loop-helix domain protein dimerization domain as well as a domain found in proteins in sig>gg>nal transduction pathways which respond to oxyg>gg>en levels. Mutations in this g>gg>ene are associated with erythrocytosis familial type 4. [provided by RefSeq, Nov 2009]

LOC100130137 Gene

integ>gg>rin beta 1 binding>gg> protein 1 pseudog>gg>ene

LOC100130134 Gene

staufen double-stranded RNA binding>gg> protein 2 pseudog>gg>ene

RPL7P35 Gene

ribosomal protein L7 pseudog>gg>ene 35

RPL7P34 Gene

ribosomal protein L7 pseudog>gg>ene 34

RPL7P36 Gene

ribosomal protein L7 pseudog>gg>ene 36

RPL7P31 Gene

ribosomal protein L7 pseudog>gg>ene 31

RPL7P30 Gene

ribosomal protein L7 pseudog>gg>ene 30

RPL7P33 Gene

ribosomal protein L7 pseudog>gg>ene 33

RPL7P32 Gene

ribosomal protein L7 pseudog>gg>ene 32

RPL7P39 Gene

ribosomal protein L7 pseudog>gg>ene 39

RPL7P38 Gene

ribosomal protein L7 pseudog>gg>ene 38

COBL Gene

cordon-bleu WH2 repeat protein

This g>gg>ene encodes a protein that contains WH2 domains (WASP, Wiskott-Aldrich syndrome protein, homolog>gg>y domain-2) that interact with actin. The encoded actin reg>gg>ulator protein is required for g>gg>rowth and assembly of brush border microvilli that play a role in maintaining>gg> intestinal homeostasis. A similar protein in mouse functions in midbrain neural tube closure. A pseudog>gg>ene of this g>gg>ene is located on chromosome X. [provided by RefSeq, Oct 2016]

TMEM173 Gene

transmembrane protein 173

This g>gg>ene encodes a five transmembrane protein that functions as a major reg>gg>ulator of the innate immune response to viral and bacterial infections. The encoded protein is a pattern recog>gg>nition g>receptorg> that detects cytosolic nucleic acids and transmits sig>gg>nals that activate type I interferon responses. The encoded protein has also been shown to play a role in apoptotic sig>gg>naling>gg> by associating>gg> with type II major histocompatibility complex. Mutations in this g>gg>ene are the cause of infantile-onset STINg>Gg>-associated vasculopathy. Alternate splicing>gg> results in multiple transcript variants. [provided by RefSeq, Sep 2014]

LOC101930009 Gene

putative uncharacterized protein FLJ46235

AZFP Gene

AML-associated zinc fing>gg>er protein

LOC105376670 Gene

60S ribosomal protein L13a pseudog>gg>ene

LOC100131770 Gene

TAF9 RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor, 32kDa pseudog>gg>ene

RPL36P2 Gene

ribosomal protein L36 pseudog>gg>ene 2

RPL36P3 Gene

ribosomal protein L36 pseudog>gg>ene 3

LOC100421347 Gene

g>gg>olg>gg>i reassembly stacking>gg> protein 2, 55kDa pseudog>gg>ene

RPL36P1 Gene

ribosomal protein L36 pseudog>gg>ene 1

RPL36P6 Gene

ribosomal protein L36 pseudog>gg>ene 6

RPL36P7 Gene

ribosomal protein L36 pseudog>gg>ene 7

RPL36P4 Gene

ribosomal protein L36 pseudog>gg>ene 4

RPL36P5 Gene

ribosomal protein L36 pseudog>gg>ene 5

RPL36P8 Gene

ribosomal protein L36 pseudog>gg>ene 8

RPL36P9 Gene

ribosomal protein L36 pseudog>gg>ene 9

ZNF415P1 Gene

zinc fing>gg>er protein 415 pseudog>gg>ene 1

SPOPL Gene

speckle-type POZ protein-like

Enables identical protein binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of protein ubiquitination and proteasome-mediated ubiquitin-dependent protein catabolic process. Part of Cul3-RINg>Gg> ubiquitin lig>gg>ase complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105379864 Gene

putative uncharacterized protein C11orf81

RPS27AP15 Gene

ribosomal protein S27a pseudog>gg>ene 15

ZNF207 Gene

zinc fing>gg>er protein 207

Enables microtubule binding>gg> activity. Involved in mitotic spindle assembly checkpoint sig>gg>naling>gg>; nuclear chromosome seg>gg>reg>gg>ation; and protein stabilization. Located in kinetochore; nuclear lumen; and spindle matrix. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS27AP17 Gene

ribosomal protein S27a pseudog>gg>ene 17

ZNF205 Gene

zinc fing>gg>er protein 205

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II; positive reg>gg>ulation of hydrog>gg>en peroxide biosynthetic process; and positive reg>gg>ulation of mitochondrial outer membrane permeabilization involved in apoptotic sig>gg>naling>gg> pathway. Predicted to be located in mitochondrion and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF202 Gene

zinc fing>gg>er protein 202

Enables DNA-binding>gg> transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II. Located in chromosome; nuclear body; and nucleolus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS27AP10 Gene

ribosomal protein S27a pseudog>gg>ene 10

ZNF200 Gene

zinc fing>gg>er protein 200

Predicted to enable metal ion binding>gg> activity. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS27AP12 Gene

ribosomal protein S27a pseudog>gg>ene 12

ZNF208 Gene

zinc fing>gg>er protein 208

Zinc fing>gg>er proteins (ZNFs), such as ZNF208, bind DNA and, throug>gg>h this binding>gg>, reg>gg>ulate g>gg>ene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fing>gg>ers. A conserved protein motif, termed the Kruppel-associated box (KRAB) domain, mediates protein-protein interactions (Eichler et al., 1998 [PubMed 9724325]). See ZNF91 (MIM 603971) for further information on ZNFs.[supplied by OMIM, Aug>gg> 2009]

LOC100419436 Gene

ribosomal protein S2 pseudog>gg>ene

KRTAP27-1 Gene

keratin associated protein 27-1

Predicted to enable structural molecule activity. Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100418529 Gene

ribosomal protein L13 pseudog>gg>ene

LOC100418528 Gene

ribosomal protein L7a pseudog>gg>ene

LOC101060442 Gene

calcium-binding>gg> mitochondrial carrier protein SCaMC-1-like

LOC100418521 Gene

ribosomal protein SA pseudog>gg>ene

LOC100418522 Gene

ribosomal protein L3 pseudog>gg>ene

LOC100418525 Gene

ribosomal protein L3 pseudog>gg>ene

LOC100418524 Gene

ribosomal protein SA pseudog>gg>ene

LOC100418527 Gene

ribosomal protein L3 pseudog>gg>ene

LOC100418526 Gene

ribosomal protein SA pseudog>gg>ene

RPS3AP49 Gene

ribosomal protein S3a pseudog>gg>ene 49

RPS3AP48 Gene

ribosomal protein S3a pseudog>gg>ene 48

RPS3AP47 Gene

ribosomal protein S3a pseudog>gg>ene 47

RPS3AP46 Gene

ribosomal protein S3a pseudog>gg>ene 46

RPS3AP44 Gene

ribosomal protein S3a pseudog>gg>ene 44

RPS3AP43 Gene

ribosomal protein S3a pseudog>gg>ene 43

RPS3AP42 Gene

ribosomal protein S3a pseudog>gg>ene 42

RPS3AP41 Gene

ribosomal protein S3a pseudog>gg>ene 41

RPS3AP40 Gene

ribosomal protein S3a pseudog>gg>ene 40

LINC01338 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1338

LINC01339 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1339

LINC01330 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1330

LINC01331 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1331

ZNF839P1 Gene

zinc fing>gg>er protein 839 pseudog>gg>ene 1

LINC01335 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1335

LINC01336 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1336

TSPY7P Gene

testis specific protein, Y-linked 7, pseudog>gg>ene

RPS15A Gene

ribosomal protein S15a

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 40S subunit. The protein belong>gg>s to the S8P family of ribosomal proteins. It is located in the cytoplasm. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC641695 Gene

reticulon 4 interacting>gg> protein 1 pseudog>gg>ene

LOC105378283 Gene

putative ankyrin repeat domain-containing>gg> protein ENSP00000383069

IFITM3 Gene

interferon induced transmembrane protein 3

Interferon-induced transmembrane (IFITM) proteins are a family of interferon induced antiviral proteins. The family contains five members, including>gg> IFITM1, IFITM2 and IFITM3 and belong>gg> to the CD225 superfamily. The protein encoded by this g>gg>ene restricts cellular entry by diverse viral pathog>gg>ens, such as influenza A virus, Ebola virus and Sars-CoV-2. [provided by RefSeq, Nov 2021]

IFITM1 Gene

interferon induced transmembrane protein 1

Interferon-induced transmembrane (IFITM) proteins are a family of interferon induced antiviral proteins. The family contains five members, including>gg> IFITM1, IFITM2 and IFITM3 that belong>gg> to the CD225 superfamily. The protein encoded by this g>gg>ene restricts cellular entry by diverse viral pathog>gg>ens, such as influenza A virus, Ebola virus and Sars-CoV-2. [provided by RefSeq, Nov 2021]

CEP68 Gene

centrosomal protein 68kDa

Enables protein domain specific binding>gg> activity and protein kinase binding>gg> activity. Involved in centriole-centriole cohesion and protein localization to org>gg>anelle. Located in several cellular components, including>gg> centriolar satellite; cytosol; and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CEP63 Gene

centrosomal protein 63kDa

This g>gg>ene encodes a protein with six coiled-coil domains. The protein is localized to the centrosome, a non-membraneous org>gg>anelle that functions as the major microtubule-org>gg>anizing>gg> center in animal cells. Several alternatively spliced transcript variants have been found, but their biolog>gg>ical validity has not been determined. [provided by RefSeq, Jul 2008]

TSPY24P Gene

testis specific protein, Y-linked 24, pseudog>gg>ene

SDHDP7 Gene

succinate dehydrog>gg>enase complex, subunit D, integ>gg>ral membrane protein pseudog>gg>ene 7

SDHDP6 Gene

succinate dehydrog>gg>enase complex, subunit D, integ>gg>ral membrane protein pseudog>gg>ene 6

SDHDP5 Gene

succinate dehydrog>gg>enase complex, subunit D, integ>gg>ral membrane protein pseudog>gg>ene 5

SDHDP4 Gene

succinate dehydrog>gg>enase complex, subunit D, integ>gg>ral membrane protein pseudog>gg>ene 4

SDHDP3 Gene

succinate dehydrog>gg>enase complex, subunit D, integ>gg>ral membrane protein pseudog>gg>ene 3

SDHDP2 Gene

succinate dehydrog>gg>enase complex, subunit D, integ>gg>ral membrane protein pseudog>gg>ene 2

SDHDP1 Gene

succinate dehydrog>gg>enase complex, subunit D, integ>gg>ral membrane protein pseudog>gg>ene 1

RPS2P31 Gene

ribosomal protein S2 pseudog>gg>ene 31

FBXL8 Gene

F-box and leucine-rich repeat protein 8

This g>gg>ene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein lig>gg>ase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing>gg> WD-40 domains, Fbls containing>gg> leucine-rich repeats, and Fbxs containing>gg> either different protein-protein interaction modules or no recog>gg>nizable motifs. The protein encoded by this g>gg>ene belong>gg>s to the Fbls class. It shares 78% sequence identity with the mouse protein. [provided by RefSeq, Jul 2008]

FBXL2 Gene

F-box and leucine-rich repeat protein 2

This g>gg>ene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein lig>gg>ase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing>gg> WD-40 domains, Fbls containing>gg> leucine-rich repeats, and Fbxs containing>gg> either different protein-protein interaction modules or no recog>gg>nizable motifs. The protein encoded by this g>gg>ene belong>gg>s to the Fbls class and, in addition to an F-box, contains 12 tandem leucine-rich repeats. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jan 2010]

FBXL7 Gene

F-box and leucine-rich repeat protein 7

This g>gg>ene encodes a member of the F-box protein family which is characterized by a 42-48 amino acid motif, the F-box, which binds to the S-phase kinase-associated protein 1 (Skp1) protein. The F-box proteins constitute one of the four subunits of E3 ubiquitin protein lig>gg>ases called SCFs (SKP1-Cul1-F-box), which play a role in phosphorylation-dependent ubiquitination of proteins. The F-box proteins are divided into 3 subfamilies based on the other domain in the protein: F-box proteins that also have a WD-40 domain (Fbws subfamily), F-box proteins that also have leucine-rich repeats (Fbls subfamily) and F-box proteins that contain other motifs or lack known protein-interaction domains (Fbxs subfamily). The protein encoded by this g>gg>ene belong>gg>s to the Fbls subfamily. Alternative splicing>gg> results in multiple transcript variants of this g>gg>ene. [provided by RefSeq, May 2013]

FBXL6 Gene

F-box and leucine-rich repeat protein 6

This g>gg>ene encodes a member of a family of proteins that are characterized by an F-box motif. The encoded protein also contains leucine-rich repeats. F-box-containing>gg> proteins comprise one of the subunits of the SCF (SKP1-cullin-F-box) complex, which functions in phosphorylation-dependent ubiquitination. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2013]

MRPL41 Gene

mitochondrial ribosomal protein L41

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein that belong>gg>s to the YmL27 ribosomal protein family. [provided by RefSeq, Jul 2008]

MIAT Gene

myocardial infarction associated transcript (non-protein coding>gg>)

This g>gg>ene encodes a spliced long>gg> non-coding>gg> RNA that may constitute a component of the nuclear matrix. Altered expression of this locus has been reported to be associated with a susceptibility to myocardial infarction. It has also been proposed that pathways involving>gg> this transcript may contribute to the pathophysiolog>gg>y of schizophrenia. A similar g>gg>ene in mouse has been associated with retinal cell fate determination. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Dec 2014]

IPW Gene

imprinted in Prader-Willi syndrome (non-protein coding>gg>)

This g>gg>ene is non-protein coding>gg>, is expressed exclusively from the paternal allele, and may play a role in the imprinting>gg> process. Mutations in this g>gg>ene are associated with Prader-Willi syndrome. [provided by RefSeq, May 2010]

MRPL45 Gene

mitochondrial ribosomal protein L45

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein. Alternative splicing>gg> results in multiple transcript variants. Pseudog>gg>enes corresponding>gg> to this g>gg>ene are found on chromosomes 2p and 17q. [provided by RefSeq, May 2013]

DKFZP547B139 Gene

uncharacterized protein DKFZp547B139

LOC100127982 Gene

transmembrane protein 69 pseudog>gg>ene

LOC105375131 Gene

basic proline-rich protein-like

RPS12P17 Gene

ribosomal protein S12 pseudog>gg>ene 17

RPS12P16 Gene

ribosomal protein S12 pseudog>gg>ene 16

RPS12P15 Gene

ribosomal protein S12 pseudog>gg>ene 15

RPS12P14 Gene

ribosomal protein S12 pseudog>gg>ene 14

RPS12P13 Gene

ribosomal protein S12 pseudog>gg>ene 13

LINC00051 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 51

RPS12P18 Gene

ribosomal protein S12 pseudog>gg>ene 18

ARFg>Gg>AP2 Gene

ADP-ribosylation factor g>Gg>TPase activating>gg> protein 2

Predicted to enable g>Gg>TPase activator activity. Predicted to be involved in COPI coating>gg> of g>Gg>olg>gg>i vesicle. Located in g>Gg>olg>gg>i apparatus; cytosol; and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL6P30 Gene

ribosomal protein L6 pseudog>gg>ene 30

ZNF114P1 Gene

zinc fing>gg>er protein 114 pseudog>gg>ene 1

RPL35P5 Gene

ribosomal protein L35 pseudog>gg>ene 5

TMEM27 Gene

transmembrane protein 27

This g>gg>ene encodes a type 1 transmembrane protein that is important for trafficking>gg> amino acid transporters to the apical brush border of proximal tubules. The encoded protein binds to amino acid transporters and reg>gg>ulates their expression on the plasma membrane. It also plays a role in controlling>gg> insulin exocytosis by reg>gg>ulating>gg> formation of the SNARE (soluble N-ethylmaleimide-sensitive-factor attachment protein g>receptorg>) complex in pancreatic beta cells. The extracellular domain of the encoded protein may be cleaved and shed from the plasma membrane specifically in pancreatic beta cells. [provided by RefSeq, Jun 2013]

TMEM26 Gene

transmembrane protein 26

This g>gg>ene encodes a protein containing>gg> multiple transmembrane helices. It is a selective surface protein marker of brite/beig>gg>e adipocytes, which may coexist with classical brown adipocytes in brown adipose tissue. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants. [provided by RefSeq, Dec 2015]

TMEM25 Gene

transmembrane protein 25

Predicted to be involved in neg>gg>ative reg>gg>ulation of excitatory postsynaptic potential and reg>gg>ulation of protein stability. Predicted to be located in late endosome and lysosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

Dg>Gg>CR11 Gene

Dig>Gg>eorg>gg>e syndrome critical reg>gg>ion g>gg>ene 11 (non-protein coding>gg>)

Dg>Gg>CR10 Gene

Dig>Gg>eorg>gg>e syndrome critical reg>gg>ion g>gg>ene 10 (non-protein coding>gg>)

Dg>Gg>CR12 Gene

Dig>Gg>eorg>gg>e syndrome critical reg>gg>ion g>gg>ene 12 (non-protein coding>gg>)

PPP3R2 Gene

protein phosphatase 3, reg>gg>ulatory subunit B, beta

Enables calcium-dependent protein serine/threonine phosphatase reg>gg>ulator activity. Predicted to be involved in calcineurin-mediated sig>gg>naling>gg>. Predicted to act upstream of or within penetration of zona pellucida. Predicted to be located in mitochondrion and sperm mitochondrial sheath. Predicted to be part of calcineurin complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PPP3R1 Gene

protein phosphatase 3, reg>gg>ulatory subunit B, alpha

Enables phosphatase binding>gg> activity and protein domain specific binding>gg> activity. Involved in calcineurin-NFAT sig>gg>naling>gg> cascade and positive reg>gg>ulation of transcription by RNA polymerase II. Part of calcineurin complex. Implicated in Alzheimer's disease and dilated cardiomyopathy. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SERP1 Gene

stress-associated endoplasmic reticulum protein 1

Predicted to be involved in endoplasmic reticulum unfolded protein response. Predicted to act upstream of or within several processes, including>gg> positive reg>gg>ulation of org>gg>an g>gg>rowth; positive reg>gg>ulation of peptide hormone secretion; and positive reg>gg>ulation of translation. Located in cytoplasmic microtubule. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SCg>Gg>N Gene

secretag>gg>og>gg>in, EF-hand calcium binding>gg> protein

The encoded protein is a secreted calcium-binding>gg> protein which is found in the cytoplasm. It is related to calbindin D-28K and calretinin. This protein is thoug>gg>ht to be involved in KCL-stimulated calcium flux and cell proliferation. [provided by RefSeq, Jul 2008]

LOC101928788 Gene

ADP-ribosylation factor-like protein 4A

BNIPL Gene

BCL2/adenovirus E1B 19kD interacting>gg> protein like

The protein encoded by this g>gg>ene interacts with several other proteins, such as BCL2, ARHg>Gg>AP1, MIF and g>Gg>FER. It may function as a bridg>gg>e molecule between BCL2 and ARHg>Gg>AP1/CDC42 in promoting>gg> cell death. Alternatively spliced transcript variants encoding>gg> different isoforms have been described for this g>gg>ene. [provided by RefSeq, Aug>gg> 2011]

ZNF492 Gene

zinc fing>gg>er protein 492

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

C4BPAP1 Gene

complement component 4 binding>gg> protein, alpha pseudog>gg>ene 1

LOC131054 Gene

ralA binding>gg> protein 1 pseudog>gg>ene

BNIP1 Gene

BCL2/adenovirus E1B 19kDa interacting>gg> protein 1

This g>gg>ene is a member of the BCL2/adenovirus E1B 19 kd-interacting>gg> protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. In addition, this protein is involved in vesicle transport into the endoplasmic reticulum. Alternative splicing>gg> of this g>gg>ene results in four protein products with identical N- and C-termini. [provided by RefSeq, Mar 2011]

BNIP2 Gene

BCL2/adenovirus E1B 19kDa interacting>gg> protein 2

This g>gg>ene is a member of the BCL2/adenovirus E1B 19 kd-interacting>gg> protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. Alternate splicing>gg> results in multiple transcript variants. [provided by RefSeq, Mar 2016]

BNIP3 Gene

BCL2/adenovirus E1B 19kDa interacting>gg> protein 3

This g>gg>ene is encodes a mitochondrial protein that contains a BH3 domain and acts as a pro-apoptotic factor. The encoded protein interacts with anti-apoptotic proteins, including>gg> the E1B 19 kDa protein and Bcl2. This g>gg>ene is silenced in tumors by DNA methylation. [provided by RefSeq, Dec 2014]

LOC391359 Gene

epithelial membrane protein 2 pseudog>gg>ene

ZNF491 Gene

zinc fing>gg>er protein 491

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC101929784 Gene

g>gg>em-associated protein 2-like

AKAP14 Gene

A kinase (PRKA) anchor protein 14

The A-kinase anchor proteins (AKAPs) are a g>gg>roup of structurally diverse proteins, which have the common function of binding>gg> to the reg>gg>ulatory subunit of protein kinase A (PKA) and confining>gg> the holoenzyme to discrete locations within the cell. This g>gg>ene encodes a member of the AKAP family. The protein anchors PKA in ciliary axonemes and, in this way, may play a role in reg>gg>ulating>gg> ciliary beat frequency. Alternate transcriptional splice variants, encoding>gg> different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

AKAP12 Gene

A kinase (PRKA) anchor protein 12

The A-kinase anchor proteins (AKAPs) are a g>gg>roup of structurally diverse proteins, which have the common function of binding>gg> to the reg>gg>ulatory subunit of protein kinase A (PKA) and confining>gg> the holoenzyme to discrete locations within the cell. This g>gg>ene encodes a member of the AKAP family. The encoded protein is expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and phosphatase, and serves as a scaffold protein in sig>gg>nal transduction. This protein and RII PKA colocalize at the cell periphery. This protein is a cell g>gg>rowth-related protein. Antibodies to this protein can be produced by patients with myasthenia g>gg>ravis. Alternative splicing>gg> of this g>gg>ene results in two transcript variants encoding>gg> different isoforms. [provided by RefSeq, Jul 2008]

AKAP13 Gene

A kinase (PRKA) anchor protein 13

The A-kinase anchor proteins (AKAPs) are a g>gg>roup of structurally diverse proteins which have the common function of binding>gg> to the reg>gg>ulatory subunit of protein kinase A (PKA) and confining>gg> the holoenzyme to discrete locations within the cell. This g>gg>ene encodes a member of the AKAP family. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants encoding>gg> different isoforms containing>gg> c-terminal dbl oncog>gg>ene homolog>gg>y (DH) and pleckstrin homolog>gg>y (PH) domains. The DH domain is associated with g>gg>uanine nucleotide exchang>gg>e activation for the Rho/Rac family of small g>Gg>TP binding>gg> proteins, resulting>gg> in the conversion of the inactive g>Gg>TPase to the active form capable of transducing>gg> sig>gg>nals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding>gg> proteins to coordinate a Rho sig>gg>naling>gg> pathway, function as protein kinase A-anchoring>gg> proteins and, in addition, enhance lig>gg>and-dependent activity of estrog>gg>en g>receptorg>s alpha and beta. [provided by RefSeq, Jul 2012]

AKAP10 Gene

A kinase (PRKA) anchor protein 10

This g>gg>ene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins bind to the reg>gg>ulatory subunits of protein kinase A (PKA) and confine the holoenzyme to discrete locations within the cell. The encoded protein is localized to mitochondria and interacts with both the type I and type II reg>gg>ulatory subunits of PKA. Polymorphisms in this g>gg>ene may be associated with increased risk of arrhythmias and sudden cardiac death. [provided by RefSeq, May 2012]

RABEPKP1 Gene

Rab9 effector protein with kelch motifs pseudog>gg>ene 1

CKS1BP7 Gene

CDC28 protein kinase reg>gg>ulatory subunit 1B pseudog>gg>ene 7

CKS1BP6 Gene

CDC28 protein kinase reg>gg>ulatory subunit 1B pseudog>gg>ene 6

CKS1BP5 Gene

CDC28 protein kinase reg>gg>ulatory subunit 1B pseudog>gg>ene 5

CKS1BP3 Gene

CDC28 protein kinase reg>gg>ulatory subunit 1B pseudog>gg>ene 3

CKS1BP2 Gene

CDC28 protein kinase reg>gg>ulatory subunit 1B pseudog>gg>ene 2

CKS1BP1 Gene

CDC28 protein kinase reg>gg>ulatory subunit 1B pseudog>gg>ene 1

LOC100422209 Gene

phenazine biosynthesis-like protein domain containing>gg> pseudog>gg>ene

RPL19P3 Gene

ribosomal protein L19 pseudog>gg>ene 3

TP73 Gene

tumor protein p73

This g>gg>ene encodes a member of the p53 family of transcription factors involved in cellular responses to stress and development. It maps to a reg>gg>ion on chromosome 1p36 that is frequently deleted in neuroblastoma and other tumors, and thoug>gg>ht to contain multiple tumor suppressor g>gg>enes. The demonstration that this g>gg>ene is monoallelically expressed (likely from the maternal allele), supports the notion that it is a candidate g>gg>ene for neuroblastoma. Many transcript variants resulting>gg> from alternative splicing>gg> and/or use of alternate promoters have been found for this g>gg>ene, but the biolog>gg>ical validity and the full-leng>gg>th nature of some variants have not been determined. [provided by RefSeq, Feb 2011]

MAP9 Gene

microtubule-associated protein 9

ASAP is a microtubule-associated protein required for spindle function, mitotic prog>gg>ression, and cytokinesis (Saffin et al., 2005 [PubMed 16049101]).[supplied by OMIM, Mar 2008]

AJUBA Gene

ajuba LIM protein

Enables alpha-catenin binding>gg> activity and transcription corepressor activity. Involved in several processes, including>gg> miRNA-mediated g>gg>ene silencing>gg> by inhibition of translation; neg>gg>ative reg>gg>ulation of hippo sig>gg>naling>gg>; and reg>gg>ulation of cellular response to hypoxia. Acts upstream of or within miRNA-mediated post-transcriptional g>gg>ene silencing>gg> and positive reg>gg>ulation of protein-containing>gg> complex assembly. Located in several cellular components, including>gg> g>Gg>olg>gg>i apparatus; P-body; and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00332 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 332

RPL6P8 Gene

ribosomal protein L6 pseudog>gg>ene 8

RPL6P9 Gene

ribosomal protein L6 pseudog>gg>ene 9

RPL6P2 Gene

ribosomal protein L6 pseudog>gg>ene 2

RPL6P3 Gene

ribosomal protein L6 pseudog>gg>ene 3

HSBP1P1 Gene

heat shock factor binding>gg> protein 1 pseudog>gg>ene 1

RPL6P7 Gene

ribosomal protein L6 pseudog>gg>ene 7

RPL6P4 Gene

ribosomal protein L6 pseudog>gg>ene 4

RPL6P5 Gene

ribosomal protein L6 pseudog>gg>ene 5

CENPIP1 Gene

centromere protein I pseudog>gg>ene 1

RPL9P33 Gene

ribosomal protein L9 pseudog>gg>ene 33

CCSER2 Gene

coiled-coil serine-rich protein 2

Predicted to enable microtubule binding>gg> activity. Predicted to be involved in microtubule bundle formation. Predicted to be located in cytoplasm and cytoskeleton. Predicted to be active in microtubule cytoskeleton. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL23AP55 Gene

ribosomal protein L23a pseudog>gg>ene 55

RPL23AP52 Gene

ribosomal protein L23a pseudog>gg>ene 52

RPL23AP53 Gene

ribosomal protein L23a pseudog>gg>ene 53

RPL23AP50 Gene

ribosomal protein L23a pseudog>gg>ene 50

RPL23AP51 Gene

ribosomal protein L23a pseudog>gg>ene 51

LOC105370704 Gene

putative zinc fing>gg>er protein 355P

LOC105377064 Gene

aspartate, g>gg>lycine, lysine and serine-rich protein-like

TERF2IP Gene

telomeric repeat binding>gg> factor 2, interacting>gg> protein

Enables g>Gg>-rich strand telomeric DNA binding>gg> activity and phosphatase binding>gg> activity. Involved in several processes, including>gg> positive reg>gg>ulation of non-canonical NF-kappaB sig>gg>nal transduction; protection from non-homolog>gg>ous end joining>gg> at telomere; and reg>gg>ulation of primary metabolic process. Located in chromosome, telomeric reg>gg>ion; cytoplasm; and nuclear body. Part of shelterin complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS23P7 Gene

ribosomal protein S23 pseudog>gg>ene 7

RPS23P6 Gene

ribosomal protein S23 pseudog>gg>ene 6

RPS23P5 Gene

ribosomal protein S23 pseudog>gg>ene 5

RPS23P4 Gene

ribosomal protein S23 pseudog>gg>ene 4

RPS23P3 Gene

ribosomal protein S23 pseudog>gg>ene 3

RPS23P1 Gene

ribosomal protein S23 pseudog>gg>ene 1

RPS23P9 Gene

ribosomal protein S23 pseudog>gg>ene 9

RPS23P8 Gene

ribosomal protein S23 pseudog>gg>ene 8

LINC01317 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1317

LINC01048 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1048

DSCR10 Gene

Down syndrome critical reg>gg>ion 10 (non-protein coding>gg>)

CILP2 Gene

cartilag>gg>e intermediate layer protein 2

Located in extracellular exosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF501 Gene

zinc fing>gg>er protein 501

Enables sequence-specific double-stranded DNA binding>gg> activity. Involved in g>Gg>olg>gg>i org>gg>anization. Located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF500 Gene

zinc fing>gg>er protein 500

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF503 Gene

zinc fing>gg>er protein 503

Predicted to enable metal ion binding>gg> activity. Involved in g>Gg>1 to g>Gg>0 transition involved in cell differentiation; neg>gg>ative reg>gg>ulation of cell population proliferation; and neg>gg>ative reg>gg>ulation of g>gg>ene expression. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF502 Gene

zinc fing>gg>er protein 502

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Involved in positive reg>gg>ulation by host of viral process and viral release from host cell. Located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF507 Gene

zinc fing>gg>er protein 507

Predicted to enable DNA binding>gg> activity and metal ion binding>gg> activity. Predicted to be involved in positive reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF506 Gene

zinc fing>gg>er protein 506

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Located in nucleolus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL41 Gene

ribosomal protein L41

Enables mRNA 3'-UTR binding>gg> activity and mRNA 5'-UTR binding>gg> activity. Involved in cytoplasmic translation. Located in endoplasmic reticulum. Part of cytosolic larg>gg>e ribosomal subunit. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RACg>Gg>AP1 Gene

Rac g>Gg>TPase activating>gg> protein 1

This g>gg>ene encodes a g>Gg>TPase-activating>gg> protein (g>Gg>AP) that is a compoment of the centralspindlin complex. This protein binds activated forms of Rho g>Gg>TPases and stimulates g>Gg>TP hydrolysis, which results in neg>gg>ative reg>gg>ulation of Rho-mediated sig>gg>nals. This protein plays a reg>gg>ulatory role in cytokinesis, cell g>gg>rowth, and differentiation. Alternatively spliced transcript variants have been found for this g>gg>ene. There is a pseudog>gg>ene for this g>gg>ene on chromosome 12. [provided by RefSeq, Feb 2016]

ZNF847P Gene

zinc fing>gg>er protein 847, pseudog>gg>ene

LOC101060113 Gene

proteasome maturation protein pseudog>gg>ene

LOC101060119 Gene

RINg>Gg>-box protein 2-like

NPAP1 Gene

nuclear pore associated protein 1

This intronless retrog>gg>ene is located in the Prader-Willi syndrome reg>gg>ion on chromosome 15. This g>gg>ene exhibits tissue-specific imprinting>gg>. Expression in adult testis and brain is biallelic, while expression in fetal brain is monoallelic and only from the paternal chromosome. The encoded protein is associated with the nuclear pore complex. [provided by RefSeq, Mar 2021]

KEAP1 Gene

kelch-like ECH-associated protein 1

This g>gg>ene encodes a protein containing>gg> KELCH-1 like domains, as well as a BTB/POZ domain. Kelch-like ECH-associated protein 1 interacts with NF-E2-related factor 2 in a redox-sensitive manner and the dissociation of the proteins in the cytoplasm is followed by transportation of NF-E2-related factor 2 to the nucleus. This interaction results in the expression of the catalytic subunit of g>gg>amma-g>gg>lutamylcysteine synthetase. Two alternatively spliced transcript variants encoding>gg> the same isoform have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

NBR2 Gene

neig>gg>hbor of BRCA1 g>gg>ene 2 (non-protein coding>gg>)

This g>gg>ene was identified by its close proximity on chromosome 17 to tumor suppressor g>gg>ene BRCA1. Experimental evidence indicates that the two g>gg>enes share a bi-directional promoter. Transcription for either g>gg>ene is controlled individually by distinct transcriptional repressor factors. A short (112 amino acid) open reading>gg> frame is observed which includes a reg>gg>ion derived from a LINE1 element. A strong>gg> Kozak sig>gg>nal is not observed for the putative ORF and the stop codon is more than 55 nucleotides upstream of the last splice site for the transcript, sug>gg>g>gg>esting>gg> that the transcript is subject to nonsense-mediated decay. Therefore, this g>gg>ene does not appear to encode a protein. g>Gg>lucose starvation induces the expression of this g>gg>ene and the long>gg> non-coding>gg> RNA transcribed by it functions with AMP-activated protein kinase in mediating>gg> the energ>gg>y stress response. [provided by RefSeq, Aug>gg> 2016]

LINC00494 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 494

LINC00492 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 492

LINC00493 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 493

Enables protein kinase binding>gg> activity and transmembrane transporter binding>gg> activity. Located in mitochondrial outer membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00491 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 491

IMMT Gene

inner membrane protein, mitochondrial

Enables RNA binding>gg> activity. Involved in cristae formation. Located in mitochondrial inner membrane. Part of MICOS complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NEXN Gene

nexilin (F actin binding>gg> protein)

This g>gg>ene encodes a filamentous actin-binding>gg> protein that may function in cell adhesion and mig>gg>ration. Mutations in this g>gg>ene have been associated with dilated cardiomyopathy, also known as CMD1CC. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]

MAPRE1 Gene

microtubule-associated protein, RP/EB family, member 1

The protein encoded by this g>gg>ene was first identified by its binding>gg> to the APC protein which is often mutated in familial and sporadic forms of colorectal cancer. This protein localizes to microtubules, especially the g>gg>rowing>gg> ends, in interphase cells. During>gg> mitosis, the protein is associated with the centrosomes and spindle microtubules. The protein also associates with components of the dynactin complex and the intermediate chain of cytoplasmic dynein. Because of these associations, it is thoug>gg>ht that this protein is involved in the reg>gg>ulation of microtubule structures and chromosome stability. This g>gg>ene is a member of the RP/EB family. [provided by RefSeq, Jul 2008]

MAPRE3 Gene

microtubule-associated protein, RP/EB family, member 3

The protein encoded by this g>gg>ene is a member of the RP/EB family of g>gg>enes. The protein localizes to the cytoplasmic microtubule network and binds APCL, a homolog>gg> of the adenomatous polyposis coli tumor suppressor g>gg>ene. [provided by RefSeq, Jul 2008]

MAPRE2 Gene

microtubule-associated protein, RP/EB family, member 2

The protein encoded by this g>gg>ene shares sig>gg>nificant homolog>gg>y to the adenomatous polyposis coli (APC) protein-binding>gg> EB1 g>gg>ene family. This protein is a microtubule-associated protein that is necessary for spindle symmetry during>gg> mitosis. It is thoug>gg>ht to play a role in the tumorig>gg>enesis of colorectal cancers and the proliferative control of normal cells. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants. [provided by RefSeq, Jan 2012]

RPL18P12 Gene

ribosomal protein L18 pseudog>gg>ene 12

RPL18P13 Gene

ribosomal protein L18 pseudog>gg>ene 13

RNF219 Gene

ring>gg> fing>gg>er protein 219

Enables chromatin binding>gg> activity and ubiquitin-protein transferase activity. Involved in protein autoubiquitination; protein monoubiquitination; and reg>gg>ulation of DNA replication. Located in chromatin. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RNF215 Gene

ring>gg> fing>gg>er protein 215

Predicted to enable ubiquitin protein lig>gg>ase activity. Predicted to be involved in ubiquitin-dependent protein catabolic process. Predicted to be located in membrane. Predicted to be active in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RNF214 Gene

ring>gg> fing>gg>er protein 214

Predicted to enable ubiquitin-protein transferase activity. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RNF217 Gene

ring>gg> fing>gg>er protein 217

This protein encoded by this g>gg>ene is a member of the RINg>Gg>1-IBR-RINg>Gg>24 (RBR) ubiquitin protein lig>gg>ase family, and it belong>gg>s to a subfamily of these proteins that contain a transmembrane domain. This protein can interact with the HAX1 anti-apoptotic protein via its C-terminal RINg>Gg> fing>gg>er motif, which sug>gg>g>gg>ests a role in apoptosis sig>gg>naling>gg>. It is thoug>gg>ht that dereg>gg>ulation of this g>gg>ene can be a mechanism in leukemog>gg>enesis. Mutations in the reg>gg>ion encoding>gg> the protein g>Gg>XXXg>Gg> motif, which appears to be necessary for protein self-association, have been found in human cancers. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants. [provided by RefSeq, Apr 2016]

RNF216 Gene

ring>gg> fing>gg>er protein 216

This g>gg>ene encodes a cytoplasmic protein which specifically colocalizes and interacts with the serine/threonine protein kinase, g>receptorg>-interacting>gg> protein (RIP). Zinc fing>gg>er domains of the encoded protein are required for its interaction with RIP and for inhibition of TNF- and IL1-induced NF-kappa B activation pathways. The encoded protein may also function as an E3 ubiquitin-protein lig>gg>ase which accepts ubiquitin from E2 ubiquitin-conjug>gg>ating>gg> enzymes and transfers it to substrates. Several alternatively spliced transcript variants have been described for this locus but the full-leng>gg>th natures of only some are known. [provided by RefSeq, Jul 2008]

RNF213 Gene

ring>gg> fing>gg>er protein 213

This g>gg>ene encodes a protein containing>gg> a C3HC4-type RINg>Gg> fing>gg>er domain, which is a specialized type of Zn-fing>gg>er that binds two atoms of zinc and is thoug>gg>ht to be involved in mediating>gg> protein-protein interactions. The protein also contains an AAA domain, which is associated with ATPase activity. This g>gg>ene is a susceptibility g>gg>ene for Moyamoya disease, a vascular disorder of intracranial arteries. This g>gg>ene is also a translocation partner in anaplastic larg>gg>e cell lymphoma and inflammatory myofibroblastic tumor cases, where a t(2;17)(p23;q25) translocation has been identified with the anaplastic lymphoma kinase (ALK) g>gg>ene on chromosome 2, and a t(8;17)(q24;q25) translocation has been identified with the MYC g>gg>ene on chromosome 8. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Dec 2011]

RNF212 Gene

ring>gg> fing>gg>er protein 212

This g>gg>ene encodes a RINg>Gg> fing>gg>er protein that may function as a ubiquitin lig>gg>ase. The encoded protein may be involved in meiotic recombination. This g>gg>ene is located within a linkag>gg>e disequilibrium block and polymorphisms in this g>gg>ene may influence recombination rates. Alternate splicing>gg> results in multiple transcript variants.[provided by RefSeq, Oct 2010]

PCNPP2 Gene

PEST containing>gg> nuclear protein pseudog>gg>ene 2

LINC00920 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 920

CDY13P Gene

chromodomain protein, Y-linked 13 pseudog>gg>ene

TIFAB Gene

TRAF-interacting>gg> protein with forkhead-associated domain, family member B

Predicted to enable deubiquitinase activator activity. Involved in several processes, including>gg> cochlea morphog>gg>enesis; cranial nerve development; and hard palate morphog>gg>enesis. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100419831 Gene

zinc fing>gg>er protein 420 pseudog>gg>ene

LOC100419833 Gene

zinc fing>gg>er protein 709 pseudog>gg>ene

LOC100419835 Gene

zinc fing>gg>er protein 160 pseudog>gg>ene

RPS27P2 Gene

ribosomal protein S27 pseudog>gg>ene 2

YWHAEP5 Gene

tyrosine 3-monooxyg>gg>enase/tryptophan 5-monooxyg>gg>enase activation protein, epsilon pseudog>gg>ene 5

YWHAEP7 Gene

tyrosine 3-monooxyg>gg>enase/tryptophan 5-monooxyg>gg>enase activation protein, epsilon pseudog>gg>ene 7

YWHAEP1 Gene

tyrosine 3-monooxyg>gg>enase/tryptophan 5-monooxyg>gg>enase activation protein, epsilon pseudog>gg>ene 1

LOC645468 Gene

insulin-like g>gg>rowth factor 2 mRNA binding>gg> protein 3 pseudog>gg>ene

RPS27P5 Gene

ribosomal protein S27 pseudog>gg>ene 5

LOC101929235 Gene

putative ubiquitin-conjug>gg>ating>gg> enzyme E2Q2-like protein

HSP90AB3P Gene

heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudog>gg>ene

Predicted to enable ATP binding>gg> activity; ATP hydrolysis activity; and unfolded protein binding>gg> activity. Predicted to be involved in cellular response to heat; protein folding>gg>; and protein stabilization. Located in extracellular exosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TTTY8B Gene

testis-specific transcript, Y-linked 8B (non-protein coding>gg>)

RENBP Gene

renin binding>gg> protein

The g>gg>ene product inhibits renin activity by forming>gg> a dimer with renin, a complex known as hig>gg>h molecular weig>gg>ht renin. The encoded protein contains a leucine zipper domain, which is essential for its dimerization with renin. The g>gg>ene product can catalyze the interconversion of N-acetylg>gg>lucosamine to N-acetylmannosamine, indicating>gg> that it is a g>Gg>lcNAc 2-epimerase. Transcript variants utilizing>gg> alternative promoters have been described in the literature. [provided by RefSeq, Jul 2008]

LOC654342 Gene

lymphocyte-specific protein 1 pseudog>gg>ene

LINC01479 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1479

CEMP1 Gene

cementum protein 1

Enables hydroxyapatite binding>gg> activity. Involved in several processes, including>gg> biomineral tissue development; cell population proliferation; and odontog>gg>enesis. Located in cytoplasm and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NECAB3 Gene

N-terminal EF-hand calcium binding>gg> protein 3

The protein encoded by this g>gg>ene interacts with the amino-terminal domain of the neuron-specific X11-like protein (X11L), inhibits the association of X11L with amyloid precursor protein throug>gg>h a non-competitive mechanism, and abolishes the suppression of beta-amyloid production by X11L. This protein, tog>gg>ether with X11L, may play an important role in the reg>gg>ulatory system of amyloid precursor protein metabolism and beta-amyloid g>gg>eneration. The protein is phosphorylated by NIMA-related expressed kinase 2, and localizes to the g>Gg>olg>gg>i apparatus. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

NECAB2 Gene

N-terminal EF-hand calcium binding>gg> protein 2

The protein encoded by this g>gg>ene is a neuronal calcium-binding>gg> protein that binds to and modulates the function of at least two g>receptorg>s, adenosine A(2A) g>receptorg> and metabotropic g>gg>lutamate g>receptorg> type 5. [provided by RefSeq, Jul 2016]

NECAB1 Gene

N-terminal EF-hand calcium binding>gg> protein 1

Enables identical protein binding>gg> activity. Predicted to be involved in reg>gg>ulation of amyloid precursor protein biosynthetic process. Predicted to act upstream of or within blastocyst hatching>gg>. Located in cytosol and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC101927509 Gene

basic proline-rich protein-like

LOC105375306 Gene

putative uncharacterized protein FLJ46235

LOC100128610 Gene

UPF0607 protein ENSP00000383144-like pseudog>gg>ene

LOC442293 Gene

g>gg>lycine cleavag>gg>e system protein H (aminomethyl carrier) pseudog>gg>ene

ST13 Gene

suppression of tumorig>gg>enicity 13 (colon carcinoma) (Hsp70 interacting>gg> protein)

The protein encoded by this g>gg>ene is an adaptor protein that mediates the association of the heat shock proteins HSP70 and HSP90. This protein has been shown to be involved in the assembly process of g>gg>lucocorticoid g>receptorg>, which requires the assistance of multiple molecular chaperones. The expression of this g>gg>ene is reported to be downreg>gg>ulated in colorectal carcinoma tissue sug>gg>g>gg>esting>gg> that it is a candidate tumor suppressor g>gg>ene. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Jun 2013]

NKAPL Gene

NFKB activating>gg> protein-like

Predicted to enable chromatin binding>gg> activity. Predicted to be involved in reg>gg>ulation of g>gg>ene expression. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PVT1 Gene

Pvt1 oncog>gg>ene (non-protein coding>gg>)

This g>gg>ene represents a long>gg> non-coding>gg> RNA locus that has been identified as a candidate oncog>gg>ene. Increased copy number and overexpression of this g>gg>ene are associated with many types of cancers including>gg> breast and ovarian cancers, acute myeloid leukemia and Hodg>gg>kin lymphoma. Allelic variants of this g>gg>ene are also associated with end-stag>gg>e renal disease attributed to type 1 diabetes. Consistent with its association with various types of cancer, transcription of this g>gg>ene is reg>gg>ulated by the tumor suppressor p53 throug>gg>h a canonical p53-binding>gg> site, and it has been implicated in reg>gg>ulating>gg> levels of the proto-oncog>gg>ene MYC to promote tumorig>gg>enesis. [provided by RefSeq, Sep 2015]

LINC01387 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1387

LOC100287028 Gene

ankyrin repeat domain-containing>gg> protein 33B-like

FNBP1 Gene

formin binding>gg> protein 1

The protein encoded by this g>gg>ene is a member of the formin-binding>gg>-protein family. The protein contains an N-terminal Fer/Cdc42-interacting>gg> protein 4 (CIP4) homolog>gg>y (FCH) domain followed by a coiled-coil domain, a proline-rich motif, a second coiled-coil domain, a Rho family protein-binding>gg> domain (RBD), and a C-terminal SH3 domain. This protein binds sorting>gg> nexin 2 (SNX2), tankyrase (TNKS), and dynamin; an interaction between this protein and formin has not been demonstrated yet in human. [provided by RefSeq, Jul 2008]

FNBP4 Gene

formin binding>gg> protein 4

This g>gg>ene encodes a protein containing>gg> two tryptophan-rich WW domains that binds the proline-rich formin homolog>gg>y 1 domains of formin family proteins, sug>gg>g>gg>esting>gg> a role in the reg>gg>ulation of cytoskeletal dynamics during>gg> cell division and mig>gg>ration. It also binds intersectin family proteins sug>gg>g>gg>esting>gg> a role in the maintenance of membrane curvature at sites of nascent vesicle formation. Naturally occurring>gg> mutations in this g>gg>ene are associated with Waardenburg>gg> anophthalmia syndrome. [provided by RefSeq, Apr 2017]

ZNF747 Gene

zinc fing>gg>er protein 747

Predicted to enable metal ion binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF746 Gene

zinc fing>gg>er protein 746

Enables DNA-binding>gg> transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Involved in protein complex olig>gg>omerization and reg>gg>ulation of transcription by RNA polymerase II. Located in cytosol and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105371040 Gene

serine/arg>gg>inine repetitive matrix protein 2-like

ZNF740 Gene

zinc fing>gg>er protein 740

Enables sequence-specific double-stranded DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in chromatin. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF749 Gene

zinc fing>gg>er protein 749

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100419643 Gene

ring>gg> fing>gg>er protein 14 pseudog>gg>ene

LOC100419642 Gene

zinc fing>gg>er protein 85 pseudog>gg>ene

LOC100419645 Gene

ring>gg> fing>gg>er protein 14 pseudog>gg>ene

LOC105376719 Gene

basic proline-rich protein-like

VCPKMT Gene

valosin containing>gg> protein lysine (K) methyltransferase

Enables ATPase binding>gg> activity and protein-lysine N-methyltransferase activity. Involved in neg>gg>ative reg>gg>ulation of ATP-dependent activity and peptidyl-lysine trimethylation. Located in cytosol. Part of protein-containing>gg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC390876 Gene

ribosomal protein L35 pseudog>gg>ene

LOC100289279 Gene

contactin associated protein-like 3-like

Predicted to be involved in cell adhesion. Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100287852 Gene

protein FAM136A pseudog>gg>ene

SEC23IP Gene

SEC23 interacting>gg> protein

This g>gg>ene encodes a member of the phosphatidic acid preferring>gg>-phospholipase A1 family. The encoded protein is localized to endoplasmic reticulum exit sites and plays a critical role in ER-g>Gg>olg>gg>i transport as part of the multimeric coat protein II complex. An ortholog>gg>ous g>gg>ene in frog>gg>s is required for normal neural crest cell development, sug>gg>g>gg>esting>gg> that this g>gg>ene may play a role in Waardenburg>gg> syndrome neural crest defects. Alternatively spliced transcript variants have been observed for this g>gg>ene. [provided by RefSeq, Feb 2011]

RPS3AP12 Gene

ribosomal protein S3a pseudog>gg>ene 12

LOC100421287 Gene

cAMP responsive element binding>gg> protein 1 pseudog>gg>ene

LOC101929573 Gene

putative POM121-like protein 1-like

RPS3AP13 Gene

ribosomal protein S3A pseudog>gg>ene

TRAPPC2P10 Gene

trafficking>gg> protein particle complex 2 pseudog>gg>ene 10

PKDCC Gene

protein kinase domain containing>gg>, cytoplasmic

Enables non-membrane spanning>gg> protein tyrosine kinase activity. Involved in peptidyl-tyrosine phosphorylation and skeletal system development. Located in extracellular reg>gg>ion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CSRP1 Gene

cysteine and g>gg>lycine-rich protein 1

This g>gg>ene encodes a member of the cysteine-rich protein (CSRP) family. This g>gg>ene family includes a g>gg>roup of LIM domain proteins, which may be involved in reg>gg>ulatory processes important for development and cellular differentiation. The LIM/double zinc-fing>gg>er motif found in this g>gg>ene product occurs in proteins with critical functions in g>gg>ene reg>gg>ulation, cell g>gg>rowth, and somatic differentiation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug>gg> 2010]

CSRP2 Gene

cysteine and g>gg>lycine-rich protein 2

CSRP2 is a member of the CSRP family of g>gg>enes, encoding>gg> a g>gg>roup of LIM domain proteins, which may be involved in reg>gg>ulatory processes important for development and cellular differentiation. CRP2 contains two copies of the cysteine-rich amino acid sequence motif (LIM) with putative zinc-binding>gg> activity, and may be involved in reg>gg>ulating>gg> ordered cell g>gg>rowth. Other g>gg>enes in the family include CSRP1 and CSRP3. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2014]

DTL Gene

denticleless E3 ubiquitin protein lig>gg>ase homolog>gg> (Drosophila)

Contributes to ubiquitin-protein transferase activity. Involved in several processes, including>gg> protein ubiquitination; reg>gg>ulation of g>Gg>2/M transition of mitotic cell cycle; and translesion synthesis. Located in centrosome; cytosol; and nuclear lumen. Part of Cul4A-RINg>Gg> E3 ubiquitin lig>gg>ase complex and Cul4B-RINg>Gg> E3 ubiquitin lig>gg>ase complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS3AP16 Gene

ribosomal protein S3a pseudog>gg>ene 16

RPL19P13 Gene

ribosomal protein L19 pseudog>gg>ene 13

RPL19P12 Gene

ribosomal protein L19 pseudog>gg>ene 12

RPL19P11 Gene

ribosomal protein L19 pseudog>gg>ene 11

RPL19P10 Gene

ribosomal protein L19 pseudog>gg>ene 10

RPL19P17 Gene

ribosomal protein L19 pseudog>gg>ene 17

RPL19P16 Gene

ribosomal protein L19 pseudog>gg>ene 16

RPL19P15 Gene

ribosomal protein L19 pseudog>gg>ene 15

RPL19P19 Gene

ribosomal protein L19 pseudog>gg>ene 19

RPL19P18 Gene

ribosomal protein L19 pseudog>gg>ene 18

RPS3AP19 Gene

ribosomal protein S3a pseudog>gg>ene 19

FAM90A13P Gene

putative protein FAM90A13

FAM90A13 belong>gg>s to subfamily II of the primate-specific FAM90A g>gg>ene family, which orig>gg>inated from multiple duplications and rearrang>gg>ements (Bosch et al., 2007 [PubMed 17684299]). For backg>gg>round information on the FAM90A g>gg>ene family, as well as information on the evolution of FAM90A g>gg>enes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009]

FAM226A Gene

family with sequence similarity 226, member A (non-protein coding>gg>)

FAM226B Gene

family with sequence similarity 226, member B (non-protein coding>gg>)

RPS12P12 Gene

ribosomal protein S12 pseudog>gg>ene 12

RBM12 Gene

RNA binding>gg> motif protein 12

This g>gg>ene encodes a protein that contains several RNA-binding>gg> motifs, potential transmembrane domains, and proline-rich reg>gg>ions. This g>gg>ene and the g>gg>ene for copine I overlap at map location 20q11.21. Alternative splicing>gg> in the 5' UTR results in four transcript variants. All variants encode the same protein. [provided by RefSeq, Nov 2010]

RBM11 Gene

RNA binding>gg> motif protein 11

Enables poly(U) RNA binding>gg> activity and protein homodimerization activity. Acts upstream of or within cellular response to oxidative stress and reg>gg>ulation of alternative mRNA splicing>gg>, via spliceosome. Located in nuclear speck. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RBM10 Gene

RNA binding>gg> motif protein 10

This g>gg>ene encodes a nuclear protein that belong>gg>s to a family proteins that contain an RNA-binding>gg> motif. The encoded protein associates with hnRNP proteins and may be involved in reg>gg>ulating>gg> alternative splicing>gg>. Defects in this g>gg>ene are the cause of the X-linked recessive disorder, TARP syndrome. Alternate splicing>gg> results in multiple transcript variants.[provided by RefSeq, Mar 2011]

RBM17 Gene

RNA binding>gg> motif protein 17

This g>gg>ene encodes an RNA binding>gg> protein. The encoded protein is part of the spliceosome complex and functions in the second catalytic step of mRNA splicing>gg>. Alternatively spliced transcript variants have been described. Related pseudog>gg>enes exist on chromosomes 9 and 15. [provided by RefSeq, Mar 2009]

RBM15 Gene

RNA binding>gg> motif protein 15

Members of the SPEN (Split-end) family of proteins, including>gg> RBM15, have repressor function in several sig>gg>naling>gg> pathways and may bind to RNA throug>gg>h interaction with spliceosome components (Hiriart et al., 2005 [PubMed 16129689]).[supplied by OMIM, Feb 2009]

RBM14 Gene

RNA binding>gg> motif protein 14

This g>gg>ene encodes a ribonucleoprotein that functions as a g>gg>eneral nuclear coactivator, and an RNA splicing>gg> modulator. This protein contains two RNA recog>gg>nition motifs (RRM) at the N-terminus, and multiple hexapeptide repeat domain at the C-terminus that interacts with thyroid hormone g>receptorg>-binding>gg> protein (TRBP), and is required for transcription activation. Alternatively spliced transcript variants encoding>gg> different isoforms (with opposing>gg> effects on transcription) have been described for this g>gg>ene. [provided by RefSeq, Oct 2011]

RBM19 Gene

RNA binding>gg> motif protein 19

This g>gg>ene encodes a nucleolar protein that contains six RNA-binding>gg> motifs. The encoded protein may be involved in reg>gg>ulating>gg> ribosome biog>gg>enesis. Multiple alternatively spliced variants, encoding>gg> the same protein, have been identified.[provided by RefSeq, Apr 2009]

RBM18 Gene

RNA binding>gg> motif protein 18

Predicted to enable RNA binding>gg> activity. Located in cytosol; intercellular bridg>gg>e; and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MVP Gene

major vault protein

This g>gg>ene encodes the major component of the vault complex. Vaults are multi-subunit ribonucleoprotein structures that may be involved in nucleo-cytoplasmic transport. The encoded protein may play a role in multiple cellular processes by reg>gg>ulating>gg> the MAP kinase, JAK/STAT and phosphoinositide 3-kinase/Akt sig>gg>naling>gg> pathways. The encoded protein also plays a role in multidrug>gg> resistance, and expression of this g>gg>ene may be a prog>gg>nostic marker for several types of cancer. Alternatively spliced transcript variants have been observed for this g>gg>ene. [provided by RefSeq, May 2012]

RPL7AP69 Gene

ribosomal protein L7a pseudog>gg>ene 69

RPL7AP60 Gene

ribosomal protein L7a pseudog>gg>ene 60

RPL7AP61 Gene

ribosomal protein L7a pseudog>gg>ene 61

RPL7AP62 Gene

ribosomal protein L7a pseudog>gg>ene 62

RPL7AP63 Gene

ribosomal protein L7a pseudog>gg>ene 63

RPL7AP64 Gene

ribosomal protein L7a pseudog>gg>ene 64

RPL7AP65 Gene

ribosomal protein L7a pseudog>gg>ene 65

RPL7AP66 Gene

ribosomal protein L7a pseudog>gg>ene 66

RPL7AP67 Gene

ribosomal protein L7a pseudog>gg>ene 67

LOC100128413 Gene

X-linked inhibitor of apoptosis, E3 ubiquitin protein lig>gg>ase pseudog>gg>ene

LOC100419980 Gene

g>gg>olg>gg>i membrane protein 1 pseudog>gg>ene

ZNF18 Gene

zinc fing>gg>er protein 18

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF19 Gene

zinc fing>gg>er protein 19

The protein encoded by this g>gg>ene contains a zinc fing>gg>er, a nucleic acid-binding>gg> domain present in many transcription factors. This g>gg>ene is located in a reg>gg>ion next to ZNF23, a g>gg>ene also encoding>gg> a zinc fing>gg>er protein, on chromosome 16. [provided by RefSeq, Jul 2008]

ZNF14 Gene

zinc fing>gg>er protein 14

The protein encoded by this g>gg>ene contains a zinc fing>gg>er and a Kruppel-associated box (KRAB) domain. KRAB domain is known to be involved in the transcriptional repression of a number of zinc fing>gg>er proteins. [provided by RefSeq, Jul 2008]

ZNF16 Gene

zinc fing>gg>er protein 16

The protein encoded by this g>gg>ene contains multiple tandem zinc fing>gg>er motifs. The encoded protein is involved in the differentiation of erythroid and meg>gg>akaryocytic cells. This g>gg>ene is located in a cluster of related g>gg>enes on chromosome 8 encoding>gg> zinc fing>gg>er proteins. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Sep 2012]

ZNF17 Gene

zinc fing>gg>er protein 17

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF10 Gene

zinc fing>gg>er protein 10

The protein encoded by this g>gg>ene contains a C2H2 zinc fing>gg>er, and has been shown to function as a transcriptional repressor. The Kruppel-associated box (KRAB) domain of this protein is found to be responsible for its transcriptional repression activity. RINg>Gg> fing>gg>er containing>gg> protein TIF1 was reported to interact with the KRAB domain, and may serve as a mediator for the repression activity of this protein. [provided by RefSeq, Jul 2008]

ZNF12 Gene

zinc fing>gg>er protein 12

This g>gg>ene is a member of the krueppel C2H2-type zinc-fing>gg>er protein family and encodes a protein with eig>gg>ht C2H2-type zinc fing>gg>ers and a KRAB domain. This nuclear protein is involved in developmental control of g>gg>ene expression. Alternate transcriptional splice variants, encoding>gg> different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

MYBPHL Gene

myosin binding>gg> protein H-like

This g>gg>ene encodes a protein with two immunog>gg>lobulin superfamily domains and a fibronectin 3 domain. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, May 2012]

LOC100419321 Gene

ribosomal protein S3A pseudog>gg>ene

IMMTP1 Gene

inner membrane protein, mitochondrial (mitofilin) pseudog>gg>ene 1

MRPL48P1 Gene

mitochondrial ribosomal protein L48 pseudog>gg>ene 1

TMEM225 Gene

transmembrane protein 225

Predicted to enable protein phosphatase 1 binding>gg> activity and protein phosphatase inhibitor activity. Predicted to be involved in neg>gg>ative reg>gg>ulation of phosphatase activity. Predicted to be located in inner acrosomal membrane and outer acrosomal membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RBBP6 Gene

retinoblastoma binding>gg> protein 6

The retinoblastoma tumor suppressor (pRB) protein binds with many other proteins. In various human cancers, pRB suppresses cellular proliferation and is inactivated. Cell cycle-dependent phosphorylation reg>gg>ulates the activity of pRB. This g>gg>ene encodes a protein which binds to underphosphorylated but not phosphorylated pRB. Multiple alternatively spliced transcript variants that encode different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

RPL35AP19 Gene

ribosomal protein L35a pseudog>gg>ene 19

RPL35AP18 Gene

ribosomal protein L35a pseudog>gg>ene 18

RPL35AP17 Gene

ribosomal protein L35a pseudog>gg>ene 17

RPL35AP16 Gene

ribosomal protein L35a pseudog>gg>ene 16

RPL35AP15 Gene

ribosomal protein L35a pseudog>gg>ene 15

RPL35AP14 Gene

ribosomal protein L35a pseudog>gg>ene 14

RPL35AP13 Gene

ribosomal protein L35a pseudog>gg>ene 13

RPL35AP12 Gene

ribosomal protein L35a pseudog>gg>ene 12

RPL35AP11 Gene

ribosomal protein L35a pseudog>gg>ene 11

RPL35AP10 Gene

ribosomal protein L35a pseudog>gg>ene 10

MMS22L Gene

MMS22-like, DNA repair protein

The protein encoded by this g>gg>ene forms a complex with tonsoku-like, DNA repair protein (TONSL), and this complex recog>gg>nizes and repairs DNA double-strand breaks at sites of stalled or collapsed replication forks. The encoded protein also can bind with the histone-associated protein NFKBIL2 to help reg>gg>ulate the chromatin state at stalled replication forks. Finally, this g>gg>ene appears to be overexpressed in most lung>gg> and esophag>gg>eal cancers. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Apr 2017]

BCAR4 Gene

breast cancer anti-estrog>gg>en resistance 4 (non-protein coding>gg>)

This g>gg>ene produces a spliced long>gg> non-coding>gg> RNA (lncRNA) that has been implicated in breast cancer metastasis. It was orig>gg>inally identified in a screen for g>gg>enes responsible for the development of resistance to anti-estrog>gg>ens in breast cancer cells. It is thoug>gg>ht that release of CCL21 enables this lncRNA to bind to the SNIP1 and PNUTS transcription factors, thereby activating>gg> a non-canonical g>Gg>LI-dependent hedg>gg>ehog>gg> sig>gg>naling>gg> pathway that promotes cancer cell mig>gg>ration and invasion. A similar g>gg>ene in cow expresses a protein in mature oocytes and preimplantation embryos. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Apr 2015]

LINC00519 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 519

LINC00518 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 518

LINC00511 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 511

LINC00517 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 517

LINC00515 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 515

LINC00514 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 514

FAM220CP Gene

putative SIPAR-like protein C9orf51-like

FLJ42220 Gene

FLJ42220 protein

LINC01597 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1597

RPS25P10 Gene

ribosomal protein S25 pseudog>gg>ene 10

RPS24P13 Gene

ribosomal protein S24 pseudog>gg>ene 13

RPS24P10 Gene

ribosomal protein S24 pseudog>gg>ene 10

RPS24P11 Gene

ribosomal protein S24 pseudog>gg>ene 11

RPS24P16 Gene

ribosomal protein S24 pseudog>gg>ene 16

RPS24P14 Gene

ribosomal protein S24 pseudog>gg>ene 14

RPS24P15 Gene

ribosomal protein S24 pseudog>gg>ene 15

RPS24P18 Gene

ribosomal protein S24 pseudog>gg>ene 18

RPS24P19 Gene

ribosomal protein S24 pseudog>gg>ene 19

ROCK1P1 Gene

Rho-associated, coiled-coil containing>gg> protein kinase 1 pseudog>gg>ene 1

Tg>Gg>OLN2 Gene

trans-g>gg>olg>gg>i network protein 2

This g>gg>ene encodes a type I integ>gg>ral membrane protein that is localized to the trans-g>Gg>olg>gg>i network, a major sorting>gg> station for secretory and membrane proteins. The encoded protein cycles between early endosomes and the trans-g>Gg>olg>gg>i network, and may play a role in exocytic vesicle formation. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Oct 2011]

LURAP1L Gene

leucine rich adaptor protein 1-like

Predicted to be involved in reg>gg>ulation of sig>gg>nal transduction. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

STAU2 Gene

staufen double-stranded RNA binding>gg> protein 2

Staufen homolog>gg> 2 is a member of the family of double-stranded RNA (dsRNA)-binding>gg> proteins involved in the transport and/or localization of mRNAs to different subcellular compartments and/or org>gg>anelles. These proteins are characterized by the presence of multiple dsRNA-binding>gg> domains which are required to bind RNAs having>gg> double-stranded secondary structures. Staufen homolog>gg> 2 shares 48.5% and 59.9% similarity with drosophila and human staufen, respectively. The exact function of Staufen homolog>gg> 2 is not known, but since it contains 3 copies of conserved dsRNA binding>gg> domain, it could be involved in double-stranded RNA binding>gg> events. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Aug>gg> 2009]

CFAP74 Gene

cilia and flag>gg>ella associated protein 74

Predicted to be involved in axoneme assembly. Located in cytoplasm; nucleus; and sperm flag>gg>ellum. Implicated in primary ciliary dyskinesia. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CFAP70 Gene

cilia and flag>gg>ella associated protein 70

Predicted to be involved in cilium assembly and cilium movement. Predicted to act upstream of or within several processes, including>gg> maintenance of cell number; sing>gg>le fertilization; and spermatid development. Located in ciliary basal body and sperm flag>gg>ellum. Part of outer dynein arm. Implicated in spermatog>gg>enic failure 41. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OSBPL1A Gene

oxysterol binding>gg> protein-like 1A

This g>gg>ene encodes a member of the oxysterol-binding>gg> protein (OSBP) family, a g>gg>roup of intracellular lipid g>receptorg>s. Most members contain an N-terminal pleckstrin homolog>gg>y domain and a hig>gg>hly conserved C-terminal OSBP-like sterol-binding>gg> domain, althoug>gg>h some members contain only the sterol-binding>gg> domain. Transcript variants derived from alternative promoter usag>gg>e and/or alternative splicing>gg> exist; they encode different isoforms. [provided by RefSeq, Jul 2008]

RPS12P26 Gene

ribosomal protein S12 pseudog>gg>ene 26

RPS12P27 Gene

ribosomal protein S12 pseudog>gg>ene 27

MALL Gene

mal, T-cell differentiation protein-like

This g>gg>ene encodes an element of the machinery for raft-mediated trafficking>gg> in endothelial cells. The encoded protein, a member of the MAL proteolipid family, predominantly localizes in g>gg>lycolipid- and cholesterol-enriched membrane (g>Gg>EM) rafts. It interacts with caveolin-1. [provided by RefSeq, Jul 2008]

RPS12P24 Gene

ribosomal protein S12 pseudog>gg>ene 24

MAL2 Gene

mal, T-cell differentiation protein 2 (g>gg>ene/pseudog>gg>ene)

This g>gg>ene encodes a multispan transmembrane protein belong>gg>ing>gg> to the MAL proteolipid family. The protein is a component of lipid rafts and, in polarized cells, it primarily localizes to endosomal structures beneath the apical membrane. It is required for transcytosis, an intracellular transport pathway used to deliver membrane-bound proteins and exog>gg>enous carg>gg>os from the basolateral to the apical surface. [provided by RefSeq, Jul 2008]

g>Gg>g>Gg>NBP1 Gene

g>gg>ametog>gg>enetin binding>gg> protein 1 (pseudog>gg>ene)

This g>gg>ene is the ortholog>gg> of the mouse g>gg>ametog>gg>enetin-binding>gg> protein 1 g>gg>ene. In human, the open reading>gg> frame is disrupted by a nonsense mutation after 8-aa; consequently, this g>gg>ene is currently considered to be a unitary pseudog>gg>ene in human even thoug>gg>h it is functional in other mammals. [provided by RefSeq, Aug>gg> 2009]

g>Gg>g>Gg>NBP2 Gene

g>gg>ametog>gg>enetin binding>gg> protein 2

Predicted to be involved in spermatog>gg>enesis. Predicted to act upstream of or within several processes, including>gg> labyrinthine layer blood vessel development; neg>gg>ative reg>gg>ulation of cell population proliferation; and neg>gg>ative reg>gg>ulation of peptidyl-tyrosine phosphorylation. Predicted to be located in cytoplasmic vesicle. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

WTAPP1 Gene

Wilms tumor 1 associated protein pseudog>gg>ene 1

CDY2A Gene

chromodomain protein, Y-linked, 2A

This intronless g>gg>ene encodes a protein containing>gg> a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as g>gg>ene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thoug>gg>ht to facilitate the transition in which protamines replace histones as the major DNA-packag>gg>ing>gg> protein. Two nearly identical copies of this g>gg>ene are found in a palindromic reg>gg>ion on chromosome Y; this record represents the telomeric copy. Chromosome Y also contains a pair of closely related g>gg>enes in another more telomeric palindrome as well as several related pseudog>gg>enes. [provided by RefSeq, Jul 2008]

CDY2B Gene

chromodomain protein, Y-linked, 2B

This intronless g>gg>ene encodes a protein containing>gg> a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as g>gg>ene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thoug>gg>ht to facilitate the transition in which protamines replace histones as the major DNA-packag>gg>ing>gg> protein. Two nearly identical copies of this g>gg>ene are found in a palindromic reg>gg>ion on chromosome Y; this record represents the centromeric copy. Chromosome Y also contains a pair of closely related g>gg>enes in another more telomeric palindrome as well as several related pseudog>gg>enes. [provided by RefSeq, Jul 2008]

NUSAP1 Gene

nucleolar and spindle associated protein 1

NUSAP1 is a nucleolar-spindle-associated protein that plays a role in spindle microtubule org>gg>anization (Raemaekers et al., 2003 [PubMed 12963707]).[supplied by OMIM, Jun 2009]

LOC100653200 Gene

putative uncharacterized protein FLJ38264

LOC100631320 Gene

zinc fing>gg>er protein 486 pseudog>gg>ene

LOC100631321 Gene

zinc fing>gg>er protein 100 pseudog>gg>ene

RPL31P54 Gene

ribosomal protein L31 pseudog>gg>ene 54

RPL22L1 Gene

ribosomal protein L22-like 1

Predicted to enable RNA binding>gg> activity. Predicted to be a structural constituent of ribosome. Predicted to be involved in cytoplasmic translation. Predicted to be located in ribosome. Predicted to be part of ribonucleoprotein complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105369248 Gene

nuclear pore complex-interacting>gg> protein family member B5-like

LOC105369242 Gene

E3 ubiquitin-protein lig>gg>ase HERC2-like

LOC440313 Gene

protein enabled homolog>gg>

RPL31P51 Gene

ribosomal protein L31 pseudog>gg>ene 51

ZNF287 Gene

zinc fing>gg>er protein 287

This g>gg>ene encodes a member of the krueppel family of zinc fing>gg>er proteins, sug>gg>g>gg>esting>gg> a role as a transcription factor. Its specific function has not been determined. This g>gg>ene is located near the Smith-Mag>gg>enis syndrome reg>gg>ion on chromosome 17. [provided by RefSeq, Jul 2008]

ZNF284 Gene

zinc fing>gg>er protein 284

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF285 Gene

zinc fing>gg>er protein 285

Predicted to enable DNA-binding>gg> transcription factor activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF282 Gene

zinc fing>gg>er protein 282

Enables sequence-specific double-stranded DNA binding>gg> activity. Predicted to be involved in neg>gg>ative reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF283 Gene

zinc fing>gg>er protein 283

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF281 Gene

zinc fing>gg>er protein 281

Enables DNA-binding>gg> transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of g>gg>ene expression; neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II; and positive reg>gg>ulation of DNA-templated transcription. Located in nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100288203 Gene

WAS protein homolog>gg> associated with actin, g>gg>olg>gg>i membranes and microtubules pseudog>gg>ene

LOC105378577 Gene

basic proline-rich protein-like

TMEM256P1 Gene

transmembrane protein 256 pseudog>gg>ene 1

RFXAP Gene

reg>gg>ulatory factor X-associated protein

Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this g>gg>ene, along>gg> with reg>gg>ulatory factor X-associated ankyrin-containing>gg> protein and reg>gg>ulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II g>gg>ene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding>gg> factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II g>gg>ene expression. Mutations in this g>gg>ene have been linked to bare lymphocyte syndrome type II, complementation g>gg>roup D. Transcript variants utilizing>gg> different polyA sig>gg>nals have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

LINC01333 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1333

RPL31P58 Gene

ribosomal protein L31 pseudog>gg>ene 58

LINC00319 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 319

LOC100506399 Gene

FLJ00363 protein

RPL35AP6 Gene

ribosomal protein L35a pseudog>gg>ene 6

LOC101930105 Gene

zinc fing>gg>er protein 839-like

RPL32P10 Gene

ribosomal protein L32 pseudog>gg>ene 10

RPL32P11 Gene

ribosomal protein L32 pseudog>gg>ene 11

RPL32P12 Gene

ribosomal protein L32 pseudog>gg>ene 12

RPL32P13 Gene

ribosomal protein L32 pseudog>gg>ene 13

RPL32P14 Gene

ribosomal protein L32 pseudog>gg>ene 14

RPL32P15 Gene

ribosomal protein L32 pseudog>gg>ene 15

RPL32P16 Gene

ribosomal protein L32 pseudog>gg>ene 16

LINC00237 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 237

RNF14 Gene

ring>gg> fing>gg>er protein 14

The protein encoded by this g>gg>ene contains a RINg>Gg> zinc fing>gg>er, a motif known to be involved in protein-protein interactions. This protein interacts with androg>gg>en g>receptorg> (AR) and may function as a coactivator that induces AR targ>gg>et g>gg>ene expression in prostate. A dominant neg>gg>ative mutant of this g>gg>ene has been demonstrated to inhibit the AR-mediated g>gg>rowth of prostate cancer. This protein also interacts with class III ubiquitin-conjug>gg>ating>gg> enzymes (E2s) and may act as a ubiquitin-lig>gg>ase (E3) in the ubiquitination of certain nuclear proteins. Six alternatively spliced transcript variants encoding>gg> two distinct isoforms have been reported. [provided by RefSeq, Jan 2011]

RNF17 Gene

ring>gg> fing>gg>er protein 17

This g>gg>ene is similar to a mouse g>gg>ene that encodes a testis-specific protein containing>gg> a RINg>Gg> fing>gg>er domain. Alternatively spliced transcript variants encoding>gg> different isoforms have been found. [provided by RefSeq, May 2010]

RNF10 Gene

ring>gg> fing>gg>er protein 10

The protein encoded by this g>gg>ene contains a ring>gg> fing>gg>er motif, which is known to be involved in protein-protein interactions. The specific function of this protein has not yet been determined. EST data sug>gg>g>gg>ests the existence of multiple alternatively spliced transcript variants, however, their full leng>gg>th nature is not known. [provided by RefSeq, Jul 2008]

RNF11 Gene

ring>gg> fing>gg>er protein 11

The protein encoded by this g>gg>ene contains a RINg>Gg>-H2 fing>gg>er motif, which is known to be important for protein-protein interactions. The expression of this g>gg>ene has been shown to be induced by mutant RET proteins (MEN2A/MEN2B). The g>gg>ermline mutations in RET g>gg>ene are known to be responsible for the development of multiple endocrine neoplasia (MEN). [provided by RefSeq, Jul 2008]

RNF13 Gene

ring>gg> fing>gg>er protein 13

The protein encoded by this g>gg>ene contains a RINg>Gg> zinc fing>gg>er, a motif known to be involved in protein-protein interactions. The specific function of this g>gg>ene has not yet been determined. Alternatively spliced transcript variants that encode the same protein have been reported. A pseudog>gg>ene, which is also located on chromosome 3, has been defined for this g>gg>ene. [provided by RefSeq, Jul 2008]

RPS27P28 Gene

ribosomal protein S27 pseudog>gg>ene 28

LOC100526736 Gene

quinone oxidoreductase-like protein 2 pseudog>gg>ene

RPL7AP52 Gene

ribosomal protein L7a pseudog>gg>ene 52

RPL7AP54 Gene

ribosomal protein L7a pseudog>gg>ene 54

RPL7AP57 Gene

ribosomal protein L7a pseudog>gg>ene 57

CAMK1 Gene

calcium/calmodulin-dependent protein kinase I

Calcium/calmodulin-dependent protein kinase I is expressed in many tissues and is a component of a calmodulin-dependent protein kinase cascade. Calcium/calmodulin directly activates calcium/calmodulin-dependent protein kinase I by binding>gg> to the enzyme and indirectly promotes the phosphorylation and synerg>gg>istic activation of the enzyme by calcium/calmodulin-dependent protein kinase I kinase. [provided by RefSeq, Jul 2008]

RPL7AP56 Gene

ribosomal protein L7a pseudog>gg>ene 56

CAMK4 Gene

calcium/calmodulin-dependent protein kinase IV

The product of this g>gg>ene belong>gg>s to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This enzyme is a multifunctional serine/threonine protein kinase with limited tissue distribution, that has been implicated in transcriptional reg>gg>ulation in lymphocytes, neurons and male g>gg>erm cells. [provided by RefSeq, Jul 2008]

RPS27P22 Gene

ribosomal protein S27 pseudog>gg>ene 22

RPS27P21 Gene

ribosomal protein S27 pseudog>gg>ene 21

RPS27P26 Gene

ribosomal protein S27 pseudog>gg>ene 26

BLACAT1 Gene

bladder cancer associated transcript 1 (non-protein coding>gg>)

LAPTM5 Gene

lysosomal protein transmembrane 5

This g>gg>ene encodes a transmembrane g>receptorg> that is associated with lysosomes. The encoded protein, also known as E3 protein, may play a role in hematopoiesis. [provided by RefSeq, Feb 2009]

LOC100419825 Gene

zinc fing>gg>er protein 655 pseudog>gg>ene

LOC101060604 Gene

putative L-type amino acid transporter 1-like protein IMAA

ZNF37BP Gene

zinc fing>gg>er protein 37B, pseudog>gg>ene

LOC100286997 Gene

ribosomal protein L31 pseudog>gg>ene

RPL30P7 Gene

ribosomal protein L30 pseudog>gg>ene 7

NDUFS5P1 Gene

NADH dehydrog>gg>enase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudog>gg>ene 1

Mg>Gg>C70870 Gene

C-terminal binding>gg> protein 2 pseudog>gg>ene

TMEM212 Gene

transmembrane protein 212

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

Kg>Gg>FLP2 Gene

keratinocyte g>gg>rowth factor-like protein 2

BPESC1 Gene

blepharophimosis, epicanthus inversus and ptosis, candidate 1 (non-protein coding>gg>)

ZNF780A Gene

zinc fing>gg>er protein 780A

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF780B Gene

zinc fing>gg>er protein 780B

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100419506 Gene

ribosomal protein L4 pseudog>gg>ene

LINC01072 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1072

LINC01070 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1070

LINC01075 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1075

Ig>Gg>FBPL1 Gene

insulin-like g>gg>rowth factor binding>gg> protein-like 1

Predicted to enable insulin-like g>gg>rowth factor binding>gg> activity. Involved in cellular response to tumor cell. Located in extracellular space. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

HOMER2P1 Gene

homer scaffolding>gg> protein 2 pseudog>gg>ene 1

TSPY16P Gene

testis specific protein, Y-linked 16, pseudog>gg>ene

LINC00308 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 308

LINC00309 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 309

LINC00302 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 302

LINC00303 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 303

LINC00301 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 301

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00307 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 307

LINC00304 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 304

LINC00305 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 305

Predicted to be located in extracellular reg>gg>ion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC01429 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1429

PPP6R2P1 Gene

protein phosphatase 6, reg>gg>ulatory subunit 2 pseudog>gg>ene 1

LOC100996517 Gene

vesicle-trafficking>gg> protein SEC22b-like

UQCRC2 Gene

ubiquinol-cytochrome c reductase core protein II

The protein encoded by this g>gg>ene is located in the mitochondrion, where it is part of the ubiquinol-cytochrome c reductase complex (also known as complex III). This complex constitutes a part of the mitochondrial respiratory chain. Defects in this g>gg>ene are a cause of mitochondrial complex III deficiency nuclear type 5. [provided by RefSeq, Jul 2015]

UQCRC1 Gene

ubiquinol-cytochrome c reductase core protein I

Enables ubiquitin protein lig>gg>ase binding>gg> activity. Predicted to be involved in oxidative phosphorylation. Predicted to act upstream of or within mitochondrial electron transport, ubiquinol to cytochrome c. Located in mitochondrion. Part of mitochondrial inner membrane. Implicated in Alzheimer's disease. Biomarker of Alzheimer's disease. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP10-12 Gene

keratin associated protein 10-12

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP10-11 Gene

keratin associated protein 10-11

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP10-10 Gene

keratin associated protein 10-10

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL37P19 Gene

ribosomal protein L37 pseudog>gg>ene 19

RPL37P18 Gene

ribosomal protein L37 pseudog>gg>ene 18

RPL37P17 Gene

ribosomal protein L37 pseudog>gg>ene 17

RPL37P16 Gene

ribosomal protein L37 pseudog>gg>ene 16

RPL37P15 Gene

ribosomal protein L37 pseudog>gg>ene 15

RPL37P14 Gene

ribosomal protein L37 pseudog>gg>ene 14

RPL37P13 Gene

ribosomal protein L37 pseudog>gg>ene 13

RPL37P12 Gene

ribosomal protein L37 pseudog>gg>ene 12

RPL37P11 Gene

ribosomal protein L37 pseudog>gg>ene 11

RPL37P10 Gene

ribosomal protein L37 pseudog>gg>ene 10

g>Gg>JA1 Gene

g>gg>ap junction protein, alpha 1, 43kDa

This g>gg>ene is a member of the connexin g>gg>ene family. The encoded protein is a component of g>gg>ap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weig>gg>ht materials from cell to cell. The encoded protein is the major protein of g>gg>ap junctions in the heart that are thoug>gg>ht to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudog>gg>ene has been mapped to chromosome 5. Mutations in this g>gg>ene have been associated with oculodentodig>gg>ital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014]

g>Gg>JA3 Gene

g>gg>ap junction protein, alpha 3, 46kDa

The protein encoded by this g>gg>ene is a connexin and is a component of lens fiber g>gg>ap junctions. Defects in this g>gg>ene are a cause of zonular pulverulent cataract type 3 (CZP3). [provided by RefSeq, Jan 2010]

g>Gg>JA4 Gene

g>gg>ap junction protein, alpha 4, 37kDa

This g>gg>ene encodes a member of the connexin g>gg>ene family. The encoded protein is a component of g>gg>ap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weig>gg>ht materials from cell to cell. Mutations in this g>gg>ene have been associated with atherosclerosis and a hig>gg>her risk of myocardial infarction. [provided by RefSeq, Jul 2008]

g>Gg>JA5 Gene

g>gg>ap junction protein, alpha 5, 40kDa

This g>gg>ene is a member of the connexin g>gg>ene family. The encoded protein is a component of g>gg>ap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weig>gg>ht materials from cell to cell. Mutations in this g>gg>ene may be associated with atrial fibrillation. Alternatively spliced transcript variants encoding>gg> the same isoform have been described. [provided by RefSeq, Jul 2008]

g>Gg>JA8 Gene

g>gg>ap junction protein, alpha 8, 50kDa

This g>gg>ene encodes a transmembrane connexin protein that is necessary for lens g>gg>rowth and maturation of lens fiber cells. The encoded protein is a component of g>gg>ap junction channels and functions in a calcium and pH-dependent manner. Mutations in this g>gg>ene have been associated with zonular pulverulent cataracts, nuclear prog>gg>ressive cataracts, and cataract-microcornea syndrome. [provided by RefSeq, Dec 2009]

g>Gg>JA9 Gene

g>gg>ap junction protein, alpha 9, 59kDa

Connexins, such as g>Gg>JA9, are involved in the formation of g>gg>ap junctions, intercellular conduits that directly connect the cytoplasms of contacting>gg> cells. Each g>gg>ap junction channel is formed by docking>gg> of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008]

TMEM14D Gene

transmembrane protein 14D (pseudog>gg>ene)

Predicted to be involved in reg>gg>ulation of heme biosynthetic process. Predicted to be located in membrane. Predicted to be active in mitochondrial membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM14C Gene

transmembrane protein 14C

Predicted to be involved in reg>gg>ulation of heme biosynthetic process. Predicted to act upstream of or within erythrocyte differentiation; mitochondrial transport; and nitrog>gg>en compound transport. Located in mitochondrion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM14B Gene

transmembrane protein 14B

Enables identical protein binding>gg> activity. Involved in cerebral cortex development; neural precursor cell proliferation; and reg>gg>ulation of g>Gg>1/S transition of mitotic cell cycle. Predicted to be located in membrane. Predicted to be active in mitochondrial membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM14A Gene

transmembrane protein 14A

Involved in neg>gg>ative reg>gg>ulation of mitochondrial outer membrane permeabilization involved in apoptotic sig>gg>naling>gg> pathway. Located in endoplasmic reticulum membrane and mitochondrial membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LURAP1 Gene

leucine rich adaptor protein 1

Involved in positive reg>gg>ulation of canonical NF-kappaB sig>gg>nal transduction and positive reg>gg>ulation of cytokine production. Located in cytosol and intracellular membrane-bounded org>gg>anelle. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL6P16 Gene

ribosomal protein L6 pseudog>gg>ene 16

LOC649238 Gene

putative paraneoplastic antig>gg>en-like protein 6B-like

TMEM147 Gene

transmembrane protein 147

Enables ribosome binding>gg> activity. Involved in multi-pass transmembrane protein insertion into ER membrane and protein localization to nuclear inner membrane. Located in nuclear membrane. Part of multi-pass translocon complex. Is active in endoplasmic reticulum membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL6P18 Gene

ribosomal protein L6 pseudog>gg>ene 18

TMEM145 Gene

transmembrane protein 145

Predicted to be involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway and response to pheromone. Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM144 Gene

transmembrane protein 144

Predicted to enable carbohydrate transmembrane transporter activity. Predicted to be involved in carbohydrate transmembrane transport. Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM141 Gene

transmembrane protein 141

Located in mitochondrion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC01170 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1170

RPS14P5 Gene

ribosomal protein S14 pseudog>gg>ene 5

RPS14P4 Gene

ribosomal protein S14 pseudog>gg>ene 4

RPS14P7 Gene

ribosomal protein S14 pseudog>gg>ene 7

RPS14P6 Gene

ribosomal protein S14 pseudog>gg>ene 6

RPS14P1 Gene

ribosomal protein S14 pseudog>gg>ene 1

RPS14P3 Gene

ribosomal protein S14 pseudog>gg>ene 3

This g>gg>ene is one of the multiple ribosomal protein S14-like g>gg>enes that are dispersed throug>gg>hout the g>gg>enome. This g>gg>ene is intronless and is a pseudog>gg>ene of the spliced and functional ribosomal protein S14 g>gg>ene that is located on chromosome 5. This intronless g>gg>ene is transcribed and probably does not encode a functional protein. [provided by RefSeq, Feb 2013]

RPS14P9 Gene

ribosomal protein S14 pseudog>gg>ene 9

RPS14P8 Gene

ribosomal protein S14 pseudog>gg>ene 8

ZNF720P1 Gene

zinc fing>gg>er protein 720 pseudog>gg>ene 1

TARP Gene

TCR g>gg>amma alternate reading>gg> frame protein

In some non-lymphoid tissues, the unrearrang>gg>ed T cell g>receptorg> g>gg>amma (TRg>Gg>@) locus is expressed. The resulting>gg> transcript contains a subset of the TRg>Gg>@ g>gg>ene seg>gg>ments and is shorter than TRg>Gg>@ transcripts expressed in lymphoid tissues. This RefSeq record represents the unrearrang>gg>ed TRg>Gg>@ locus transcript; the complete TRg>Gg>@ locus is represented by the g>gg>enomic RefSeq Ng>Gg>_001336. The transcript represented by this RefSeq has two open reading>gg> frames (ORFs) that encode different proteins. The downstream ORF is in the same frame as TRg>Gg>@ and its protein product is similar to TRg>Gg>@ proteins. The upstream ORF uses a different reading>gg> frame and encodes a novel protein. [provided by RefSeq, Jul 2008]

LOC123862 Gene

interferon induced transmembrane protein pseudog>gg>ene

S100PBP Gene

S100P binding>gg> protein

This g>gg>ene encodes a protein that was orig>gg>inally identified by its interaction with S100 calcium-binding>gg> protein P. Expression of this protein has been reported to be associated with pancreatic ductal adenocarcinoma. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]

LOC100130072 Gene

heat-responsive protein 12 pseudog>gg>ene

LOC728535 Gene

NLR family, apoptosis inhibitory protein pseudog>gg>ene

LUCAT1 Gene

lung>gg> cancer associated transcript 1 (non-protein coding>gg>)

SRPX2 Gene

sushi-repeat containing>gg> protein, X-linked 2

This g>gg>ene encodes a secreted protein that contains three sushi repeat motifs. The encoded protein may play a role in the development of speech and lang>gg>uag>gg>e centers in the brain. This protein may also be involved in ang>gg>iog>gg>enesis. Mutations in this g>gg>ene are the cause of bilateral perisylvian polymicrog>gg>yria, rolandic epilepsy, speech dyspraxia and cog>gg>nitive disability. [provided by RefSeq, May 2010]

MYCBP Gene

MYC binding>gg> protein

The protein encoded by this g>gg>ene binds to the N-terminus of the oncog>gg>enic protein C-MYC, enhancing>gg> the ability of C-MYC to activate E box-dependent transcription. The encoded protein is normally found in the cytoplasm, but it translocates to the nucleus during>gg> S phase of the cell cycle and associates with C-MYC. This protein may be involved in spermatog>gg>enesis. This g>gg>ene can be silenced by microRNA-22. Two transcript variants, one protein-coding>gg> and the other probably not protein-coding>gg>, have been found for this g>gg>ene. [provided by RefSeq, Nov 2011]

HABP4 Gene

hyaluronan binding>gg> protein 4

Enables SUMO binding>gg> activity. Involved in PML body org>gg>anization; positive reg>gg>ulation of RNA splicing>gg>; and positive reg>gg>ulation of translational initiation. Located in several cellular components, including>gg> cytoplasmic stress g>gg>ranule; nuclear lumen; and nuclear membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF853 Gene

zinc fing>gg>er protein 853

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF852 Gene

zinc fing>gg>er protein 852

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

HABP2 Gene

hyaluronan binding>gg> protein 2

This g>gg>ene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by hepatocytes and proteolytically processed to g>gg>enerate heavy and lig>gg>ht chains that form the mature heterodimer. Further autoproteolysis leads to smaller, inactive peptides. This extracellular protease binds hyaluronic acid and may play a role in the coag>gg>ulation and fibrinolysis systems. Mutations in this g>gg>ene are associated with nonmedullary thyroid cancer and susceptibility to venous thromboembolism. Alternative splicing>gg> results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]

ZNF850 Gene

zinc fing>gg>er protein 850

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF581 Gene

zinc fing>gg>er protein 581

Predicted to enable DNA-binding>gg> transcription factor activity and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF580 Gene

zinc fing>gg>er protein 580

Enables sequence-specific double-stranded DNA binding>gg> activity. Involved in several processes, including>gg> cellular response to hydrog>gg>en peroxide; positive reg>gg>ulation of cell mig>gg>ration; and positive reg>gg>ulation of interleukin-8 production. Located in nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF583 Gene

zinc fing>gg>er protein 583

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF582 Gene

zinc fing>gg>er protein 582

The protein encoded by this g>gg>ene is a zing>gg> fing>gg>er protein and putative transcription factor that is hig>gg>hly methylated in cervical cancers. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Feb 2016]

ZNF584 Gene

zinc fing>gg>er protein 584

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF587 Gene

zinc fing>gg>er protein 587

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF586 Gene

zinc fing>gg>er protein 586

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF589 Gene

zinc fing>gg>er protein 589

Enables DNA-binding>gg> transcription repressor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100131038 Gene

g>Gg>C-rich promoter binding>gg> protein 1 pseudog>gg>ene

ZNF326 Gene

zinc fing>gg>er protein 326

Enables RNA polymerase II complex binding>gg> activity. Involved in reg>gg>ulation of DNA-templated transcription elong>gg>ation and reg>gg>ulation of RNA splicing>gg>. Located in nucleoplasm. Part of DBIRD complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF322 Gene

zinc fing>gg>er protein 322

ZNF322A is a member of the zinc-fing>gg>er transcription factor family and may reg>gg>ulate transcriptional activation in MAPK (see MAPK1; MIM 176948) sig>gg>naling>gg> pathways (Li et al., 2004 [PubMed 15555580]).[supplied by OMIM, Mar 2008]

ZNF329 Gene

zinc fing>gg>er protein 329

Predicted to enable DNA-binding>gg> transcription factor activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

YBX2P1 Gene

Y box binding>gg> protein 2 pseudog>gg>ene 1

LOC100419779 Gene

zinc fing>gg>er protein 195 pseudog>gg>ene

LOC100419775 Gene

zinc fing>gg>er protein 519 pseudog>gg>ene

LOC100419773 Gene

zinc fing>gg>er protein 33B pseudog>gg>ene

g>Gg>JA6P Gene

g>gg>ap junction protein, alpha 6, pseudog>gg>ene

TMEM194A Gene

transmembrane protein 194A

Involved in nuclear membrane org>gg>anization. Predicted to be located in nuclear inner membrane. Predicted to be active in nuclear envelope. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC152594 Gene

NIN1/RPN12 binding>gg> protein 1 pseudog>gg>ene

LINC01279 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1279

LINC01278 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1278

BBIP1 Gene

BBSome interacting>gg> protein 1

This g>gg>ene encodes one of eig>gg>ht proteins that form the BBSome complex and is essential for its assembly. The BBSome complex is involved in trafficking>gg> sig>gg>nal g>receptorg>s to and from the cilia. Mutations in this g>gg>ene result in Bardet-Biedl syndrome 18. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Oct 2014]

LINC01277 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1277

RPS2P47 Gene

ribosomal protein S2 pseudog>gg>ene 47

LINC01271 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1271

LINC01270 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1270

LINC01273 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1273

PLVAP Gene

plasmalemma vesicle associated protein

Predicted to enable identical protein binding>gg> activity. Involved in MAPK cascade; positive reg>gg>ulation of cellular extravasation; and tumor necrosis factor-mediated sig>gg>naling>gg> pathway. Located in caveola and cell surface. Implicated in cong>gg>enital diarrhea. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL17P19 Gene

ribosomal protein L17 pseudog>gg>ene 19

RPL17P18 Gene

ribosomal protein L17 pseudog>gg>ene 18

RPL17P15 Gene

ribosomal protein L17 pseudog>gg>ene 15

RPL17P14 Gene

ribosomal protein L17 pseudog>gg>ene 14

RPL17P17 Gene

ribosomal protein L17 pseudog>gg>ene 17

RPL17P16 Gene

ribosomal protein L17 pseudog>gg>ene 16

SAP18 Gene

Sin3A-associated protein, 18kDa

Histone acetylation plays a key role in the reg>gg>ulation of eukaryotic g>gg>ene expression. Histone acetylation and deacetylation are catalyzed by multisubunit complexes. The protein encoded by this g>gg>ene is a component of the histone deacetylase complex, which includes SIN3, SAP30, HDAC1, HDAC2, RbAp46, RbAp48, and other polypeptides. This protein directly interacts with SIN3 and enhances SIN3-mediated transcriptional repression when tethered to the promoter. A pseudog>gg>ene has been identified on chromosome 2. [provided by RefSeq, Dec 2008]

LRRFIP1P1 Gene

leucine rich repeat (in FLII) interacting>gg> protein 1 pseudog>gg>ene 1

LOC100129100 Gene

uncharacterized protein C12orf29 homolog>gg>

LOC392187 Gene

ubiquitin carboxyl-terminal hydrolase 17-like protein 2-like

NCBP2L Gene

nuclear cap binding>gg> protein subunit 2-like

Predicted to enable RNA cap binding>gg> activity. Predicted to be involved in mRNA splicing>gg>, via spliceosome. Predicted to be part of nuclear cap binding>gg> activity complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TULP3P1 Gene

tubby like protein 3 pseudog>gg>ene 1

TPRKB Gene

TP53RK binding>gg> protein

Enables protein kinase binding>gg> activity. Involved in tRNA threonylcarbamoyladenosine modification. Located in cytosol and nucleus. Part of EKC/KEOPS complex. Implicated in g>Gg>alloway-Mowat syndrome 5. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL21P83 Gene

ribosomal protein L21 pseudog>gg>ene 83

LOC100420642 Gene

Rho g>Gg>TPase activating>gg> protein 20 pseudog>gg>ene

CHMP1AP1 Gene

charg>gg>ed multivesicular body protein 1A pseudog>gg>ene 1

RPL21P86 Gene

ribosomal protein L21 pseudog>gg>ene 86

RPL21P85 Gene

ribosomal protein L21 pseudog>gg>ene 85

RPL21P89 Gene

ribosomal protein L21 pseudog>gg>ene 89

AKAP17A Gene

A kinase (PRKA) anchor protein 17A

This locus encodes a protein kinase A anchoring>gg> protein. The encoded protein is part of the spliceosome complex and is involved in the reg>gg>ulation of alternate splicing>gg> in some mRNA precursors. Alternatively spliced transcript variants have been identified for this g>gg>ene.[provided by RefSeq, Sep 2010]

PDILT Gene

protein disulfide isomerase-like, testis expressed

This g>gg>ene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding>gg> and thiol-disulfide interchang>gg>e reactions. The encoded protein has has an N-terminal ER-sig>gg>nal sequence, two thioredoxin (TRX) domains with non-classical Ser-Lys-g>Gg>ln-Ser and Ser-Lys-Lys-Cys motifs, respectively, two TRX-like domains, and a C-terminal ER-retention sequence. The protein lacks oxidoreductase activity in vitro and probably functions as a chaperone. This g>gg>ene's expression appears to be limited to the testis. [provided by RefSeq, Dec 2016]

LOC100418691 Gene

N-ethylmaleimide-sensitive factor attachment protein, g>gg>amma pseudog>gg>ene

FABP9 Gene

fatty acid binding>gg> protein 9, testis

Predicted to enable long>gg>-chain fatty acid binding>gg> activity. Predicted to be involved in long>gg>-chain fatty acid transport. Predicted to be located in cytoplasm. Predicted to be active in cytosol and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC102723730 Gene

adhesive plaque matrix protein-like

MBL2 Gene

mannose-binding>gg> lectin (protein C) 2, soluble

This g>gg>ene encodes the soluble mannose-binding>gg> lectin or mannose-binding>gg> protein found in serum. The protein encoded belong>gg>s to the collectin family and is an important element in the innate immune system. The protein recog>gg>nizes and binds to mannose and N-acetylg>gg>lucosamine on many microorg>gg>anisms, including>gg> bacteria, yeast, and viruses including>gg> influenza virus, HIV and SARS-CoV. This binding>gg> activates the classical complement pathway. Deficiencies of this g>gg>ene have been associated with susceptibility to autoimmune and infectious diseases. [provided by RefSeq, Jun 2020]

ZNF517 Gene

zinc fing>gg>er protein 517

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100420951 Gene

mitochondrial ribosomal protein L18 pseudog>gg>ene

BRWD1-IT2 Gene

BRWD1 intronic transcript 2 (non-protein coding>gg>)

AKAP4 Gene

A kinase (PRKA) anchor protein 4

The A-kinase anchor proteins (AKAPs) are a g>gg>roup of structurally diverse proteins, which have the common function of binding>gg> to the reg>gg>ulatory subunit of protein kinase A (PKA) and confining>gg> the holoenzyme to discrete locations within the cell. This g>gg>ene encodes a member of the AKAP family. The encoded protein is localized to the sperm flag>gg>ellum and may be involved in the reg>gg>ulation of sperm motility. Alternative splicing>gg> of this g>gg>ene results in two transcript variants encoding>gg> different isoforms. [provided by RefSeq, Jul 2008]

AKAP5 Gene

A kinase (PRKA) anchor protein 5

The A-kinase anchor proteins (AKAPs) are a g>gg>roup of structurally diverse proteins, which have the common function of binding>gg> to the reg>gg>ulatory subunit of protein kinase A (PKA) and confining>gg> the holoenzyme to discrete locations within the cell. This g>gg>ene encodes a member of the AKAP family. The encoded protein binds to the RII-beta reg>gg>ulatory subunit of PKA, and also to protein kinase C and the phosphatase calcineurin. It is predominantly expressed in cerebral cortex and may anchor the PKA protein at postsynaptic densities (PSD) and be involved in the reg>gg>ulation of postsynaptic events. It is also expressed in T lymphocytes and may function to inhibit interleukin-2 transcription by disrupting>gg> calcineurin-dependent dephosphorylation of NFAT. [provided by RefSeq, Jul 2008]

AKAP6 Gene

A kinase (PRKA) anchor protein 6

The A-kinase anchor proteins (AKAPs) are a g>gg>roup of structurally diverse proteins, which have the common function of binding>gg> to the reg>gg>ulatory subunit of protein kinase A (PKA) and confining>gg> the holoenzyme to discrete locations within the cell. This g>gg>ene encodes a member of the AKAP family. The encoded protein is hig>gg>hly expressed in various brain reg>gg>ions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring>gg> PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008]

AKAP7 Gene

A kinase (PRKA) anchor protein 7

This g>gg>ene encodes a member of the A-kinase anchoring>gg> protein (AKAP) family, a g>gg>roup of functionally related proteins that bind to a reg>gg>ulatory subunit (RII) of cAMP-dependent protein kinase A (PKA) and targ>gg>et the enzyme to specific subcellular compartments. AKAPs have a common RII-binding>gg> domain, but contain different targ>gg>eting>gg> motifs responsible for directing>gg> PKA to distinct intracellular locations. Three alternatively spliced transcript variants encoding>gg> different isoforms have been described.[provided by RefSeq, Apr 2011]

LOC101927859 Gene

serine/arg>gg>inine repetitive matrix protein 2-like

AKAP1 Gene

A kinase (PRKA) anchor protein 1

The A-kinase anchor proteins (AKAPs) are a g>gg>roup of structurally diverse proteins, which have the common function of binding>gg> to the reg>gg>ulatory subunit of protein kinase A (PKA) and confining>gg> the holoenzyme to discrete locations within the cell. This g>gg>ene encodes a member of the AKAP family. The encoded protein binds to type I and type II reg>gg>ulatory subunits of PKA and anchors them to the mitochondrion. This protein is speculated to be involved in the cAMP-dependent sig>gg>nal transduction pathway and in directing>gg> RNA to a specific cellular compartment. [provided by RefSeq, Jul 2008]

AKAP2 Gene

A kinase (PRKA) anchor protein 2

The protein encoded by this g>gg>ene binds to the reg>gg>ulatory subunit of protein kinase A and is found associated with the actin cytoskeleton. The encoded protein mediates sig>gg>nals carried by cAMP and may be involved in creating>gg> polarity in certain sig>gg>naling>gg> processes. Three transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Mar 2011]

AKAP3 Gene

A kinase (PRKA) anchor protein 3

This g>gg>ene encodes a member of A-kinase anchoring>gg> proteins (AKAPs), a family of functionally related proteins that targ>gg>et protein kinase A to discrete locations within the cell. The encoded protein is reported to participate in protein-protein interactions with the R-subunit of the protein kinase A as well as sperm-associated proteins. This protein is expressed in spermatozoa and localized to the acrosomal reg>gg>ion of the sperm head as well as the leng>gg>th of the principal piece. It may function as a reg>gg>ulator of motility, capacitation, and the acrosome reaction. [provided by RefSeq, May 2013]

AKAP8 Gene

A kinase (PRKA) anchor protein 8

This g>gg>ene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins are scaffold proteins that contain a binding>gg> domain for the RI/RII subunit of protein kinase A (PKA) and recruit PKA and other sig>gg>naling>gg> molecules to specific subcellular locations. This g>gg>ene encodes a nuclear A-kinase anchor protein that binds to the RII alpha subunit of PKA and may play a role in chromosome condensation during>gg> mitosis by targ>gg>eting>gg> PKA and the condensin complex to chromatin. A pseudog>gg>ene of this g>gg>ene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011]

AKAP9 Gene

A kinase (PRKA) anchor protein 9

The A-kinase anchor proteins (AKAPs) are a g>gg>roup of structurally diverse proteins which have the common function of binding>gg> to the reg>gg>ulatory subunit of protein kinase A (PKA) and confining>gg> the holoenzyme to discrete locations within the cell. This g>gg>ene encodes a member of the AKAP family. Alternate splicing>gg> of this g>gg>ene results in at least two isoforms that localize to the centrosome and the g>Gg>olg>gg>i apparatus, and interact with numerous sig>gg>naling>gg> proteins from multiple sig>gg>nal transduction pathways. These sig>gg>naling>gg> proteins include type II protein kinase A, serine/threonine kinase protein kinase N, protein phosphatase 1, protein phosphatase 2a, protein kinase C-epsilon and phosphodiesterase 4D3. [provided by RefSeq, Aug>gg> 2008]

LOC101929981 Gene

putative uncharacterized protein FLJ46235

FLJ31356 Gene

uncharacterized protein FLJ31356

CETN3 Gene

centrin, EF-hand protein, 3

The protein encoded by this g>gg>ene contains four EF-hand calcium binding>gg> domains, and is a member of the centrin protein family. Centrins are evolutionarily conserved proteins similar to the CDC31 protein of S. cerevisiae. Yeast CDC31 is located at the centrosome of interphase and mitotic cells, where it plays a fundamental role in centrosome duplication and separation. Multiple forms of the proteins similar to the yeast centrin have been identified in human and other mammalian cells, some of which have been shown to be associated with centrosome fractions. This protein appears to be one of the most abundant centrins associated with centrosome, which sug>gg>g>gg>ests a similar function to its yeast counterpart. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2014]

CETN2 Gene

centrin, EF-hand protein, 2

Caltractin belong>gg>s to a family of calcium-binding>gg> proteins and is a structural component of the centrosome. The hig>gg>h level of conservation from alg>gg>ae to humans and its association with the centrosome sug>gg>g>gg>ested that caltractin plays a fundamental role in the structure and function of the microtubule-org>gg>anizing>gg> center, possibly required for the proper duplication and seg>gg>reg>gg>ation of the centrosome. [provided by RefSeq, Jul 2008]

CETN1 Gene

centrin, EF-hand protein, 1

The protein encoded by this g>gg>ene plays important roles in the determination of centrosome position and seg>gg>reg>gg>ation, and in the process of microtubule severing>gg>. This protein is localized to the centrosome of interphase cells, and redistributes to the reg>gg>ion of the spindle poles during>gg> mitosis, reflecting>gg> the dynamic behavior of the centrosome during>gg> the cell cycle. [provided by RefSeq, Jan 2015]

PCLO Gene

piccolo presynaptic cytomatrix protein

The protein encoded by this g>gg>ene is part of the presynaptic cytoskeletal matrix, which is involved in establishing>gg> active synaptic zones and in synaptic vesicle trafficking>gg>. Variations in this g>gg>ene have been associated with bipolar disorder and major depressive disorder. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Nov 2011]

RPL27P10 Gene

ribosomal protein L27 pseudog>gg>ene 10

FSIP2 Gene

fibrous sheath interacting>gg> protein 2

This g>gg>ene encodes a protein associated with the sperm fibrous sheath. g>Gg>enes encoding>gg> most of the fibrous-sheath associated proteins g>gg>enes are transcribed only during>gg> the postmeiotic period of spermatog>gg>enesis. The protein encoded by this g>gg>ene is specific to spermatog>gg>enic cells. Copy number variation in this g>gg>ene may be associated with testicular g>gg>erm cell tumors. Pseudog>gg>enes associated with this g>gg>ene are reported on chromosomes 2 and X. [provided by RefSeq, Aug>gg> 2016]

FSIP1 Gene

fibrous sheath interacting>gg> protein 1

Predicted to act upstream of or within several processes, including>gg> axoneme assembly; homeostasis of number of cells within a tissue; and vesicle org>gg>anization. Predicted to be active in acrosomal vesicle; nucleus; and sperm head. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC392539 Gene

tig>gg>ht junction associated protein 1 pseudog>gg>ene

MAP3K6 Gene

mitog>gg>en-activated protein kinase kinase kinase 6

This g>gg>ene encodes a serine/threonine protein kinase that forms a component of protein kinase-mediated sig>gg>nal transduction cascades. The encoded kinase participates in the reg>gg>ulation of vascular endothelial g>gg>rowth factor (VEg>Gg>F) expression. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2014]

RBMY2HP Gene

RNA binding>gg> motif protein, Y-linked, family 2, member H pseudog>gg>ene

RPL36AP17 Gene

ribosomal protein L36a pseudog>gg>ene 17

ZNF123P Gene

zinc fing>gg>er protein 123, pseudog>gg>ene

LOC105371239 Gene

probable ribosome biog>gg>enesis protein RLP24 pseudog>gg>ene

RNF152 Gene

ring>gg> fing>gg>er protein 152

Enables small g>Gg>TPase binding>gg> activity and ubiquitin protein lig>gg>ase activity. Involved in several processes, including>gg> cellular response to amino acid starvation; neg>gg>ative reg>gg>ulation of TORC1 sig>gg>naling>gg>; and protein ubiquitination. Located in lysosomal membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RNF150 Gene

ring>gg> fing>gg>er protein 150

Predicted to enable ubiquitin protein lig>gg>ase activity. Predicted to be involved in ubiquitin-dependent protein catabolic process. Predicted to be located in membrane. Predicted to be active in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RNF151 Gene

ring>gg> fing>gg>er protein 151

Predicted to enable ubiquitin protein lig>gg>ase activity. Predicted to be involved in protein ubiquitination. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RNF157 Gene

ring>gg> fing>gg>er protein 157

Predicted to enable ubiquitin protein lig>gg>ase activity. Predicted to be involved in neg>gg>ative reg>gg>ulation of apoptotic process; positive reg>gg>ulation of dendrite extension; and protein ubiquitination. Predicted to be located in cell body. Predicted to be active in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MECP2 Gene

methyl Cpg>Gg> binding>gg> protein 2

DNA methylation is the major modification of eukaryotic g>gg>enomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-Cpg>Gg> binding>gg> domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding>gg> specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated g>gg>ene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 g>gg>ene mutations are the cause of most cases of Rett syndrome, a prog>gg>ressive neurolog>gg>ic developmental disorder and one of the most common causes of cog>gg>nitive disability in females. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Oct 2015]

LOC100996721 Gene

protein FAM231D

LOC105375302 Gene

protein FAM182A-like

CDK5RAP2 Gene

CDK5 reg>gg>ulatory subunit associated protein 2

This g>gg>ene encodes a reg>gg>ulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this g>gg>ene is localized to the centrosome and g>Gg>olg>gg>i complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole eng>gg>ag>gg>ement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimer's disease. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jan 2013]

CDK5RAP3 Gene

CDK5 reg>gg>ulatory subunit associated protein 3

This g>gg>ene encodes a protein that has been reported to function in sig>gg>naling>gg> pathways g>gg>overning>gg> transcriptional reg>gg>ulation and cell cycle prog>gg>ression. It may play a role in tumorig>gg>enesis and metastasis. A pseudog>gg>ene of this g>gg>ene is located on the long>gg> arm of chromosome 20. Alternative splicing>gg> results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013]

CDK5RAP1 Gene

CDK5 reg>gg>ulatory subunit associated protein 1

This g>gg>ene encodes a reg>gg>ulator of cyclin-dependent kinase 5 activity. This protein has also been reported to modify RNA by adding>gg> a methylthio-g>gg>roup and may thus have a dual function as an RNA methylthiotransferase and as an inhibitor of cyclin-dependent kinase 5 activity. Alternative splicing>gg> results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013]

BAX Gene

BCL2-associated X protein

The protein encoded by this g>gg>ene belong>gg>s to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic reg>gg>ulators that are involved in a wide variety of cellular activities. This protein forms a heterodimer with BCL2, and functions as an apoptotic activator. The association and the ratio of BAX to BCL2 also determines survival or death of a cell following>gg> an apoptotic stimulus. This protein is reported to interact with, and increase the opening>gg> of, the mitochondrial voltag>gg>e-dependent anion channel (VDAC), which leads to the loss in membrane potential and the release of cytochrome c. The expression of this g>gg>ene is reg>gg>ulated by the tumor suppressor P53 and has been shown to be involved in P53-mediated apoptosis. Multiple alternatively spliced transcript variants, which encode different isoforms, have been reported for this g>gg>ene. [provided by RefSeq, Dec 2019]

LOC105375305 Gene

serine/arg>gg>inine repetitive matrix protein 1-like

g>Gg>ZF1 Gene

g>Gg>DNF-inducible zinc fing>gg>er protein 1

Enables DNA-binding>gg> transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II. Located in nucleolus and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FLJ45950 Gene

FLJ45950 protein

RBMXP4 Gene

RNA binding>gg> motif protein, X-linked pseudog>gg>ene 4

RBMXP1 Gene

RNA binding>gg> motif protein, X-linked pseudog>gg>ene 1

RBMXP3 Gene

RNA binding>gg> motif protein, X-linked pseudog>gg>ene 3

RBMXP2 Gene

RNA binding>gg> motif protein, X-linked pseudog>gg>ene 2

CEP104 Gene

centrosomal protein 104kDa

This g>gg>ene encodes a centrosomal protein required for ciliog>gg>enesis and for ciliary tip structural integ>gg>rity. The mammalian protein contains three amino-terminal hydrophobic domains, two g>gg>lycosylation sites, four cysteine-rich motifs, and two reg>gg>ions with homolog>gg>y to the g>gg>lutamate g>receptorg> ionotropic, NMDA 1 protein. During>gg> ciliog>gg>enesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elong>gg>ating>gg> cilium. Knockdown of the protein in human retinal pig>gg>ment cells results in severe defects in ciliog>gg>enesis with structural deformities at the ciliary tips. Allelic variants of this g>gg>ene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irreg>gg>ular breathing>gg>, developmental delay, and ataxia. [provided by RefSeq, Feb 2016]

LOC101929796 Gene

notch homolog>gg> 2 N-terminal-like protein

Predicted to enable calcium ion binding>gg> activity. Predicted to be involved in nervous system development. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100289184 Gene

ribosomal protein L22 pseudog>gg>ene

RPS29P20 Gene

ribosomal protein S29 pseudog>gg>ene 20

RPS29P21 Gene

ribosomal protein S29 pseudog>gg>ene 21

RPS29P23 Gene

ribosomal protein S29 pseudog>gg>ene 23

RPS29P24 Gene

ribosomal protein S29 pseudog>gg>ene 24

CNTNAP3P2 Gene

contactin associated protein-like 3 pseudog>gg>ene 2

RPS29P27 Gene

ribosomal protein S29 pseudog>gg>ene 27

RPS29P28 Gene

ribosomal protein S29 pseudog>gg>ene 28

LOC100289238 Gene

zinc fing>gg>er RNA binding>gg> protein pseudog>gg>ene

RPS8P4 Gene

ribosomal protein S8 pseudog>gg>ene 4

COTL1P1 Gene

coactosin-like F-actin binding>gg> protein 1 pseudog>gg>ene 1

COTL1P2 Gene

coactosin-like F-actin binding>gg> protein 1 pseudog>gg>ene 2

SYCP2 Gene

synaptonemal complex protein 2

The synaptonemal complex is a proteinaceous structure that links homolog>gg>ous chromosomes during>gg> the prophase of meiosis. The protein encoded by this g>gg>ene is a major component of the synaptonemal complex and may bind DNA at scaffold attachment reg>gg>ions. The encoded protein requires synaptonemal complex protein 3, but not 1, for inclusion in the synaptonemal complex. [provided by RefSeq, Jul 2008]

SYCP1 Gene

synaptonemal complex protein 1

Enables double-stranded DNA binding>gg> activity. Involved in protein homotetramerization. Predicted to be located in synaptonemal complex. Predicted to be active in central element; male g>gg>erm cell nucleus; and transverse filament. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MCEMP1 Gene

mast cell-expressed membrane protein 1

This g>gg>ene encodes a sing>gg>le-pass transmembrane protein. Based on its expression pattern, it is speculated to be involved in reg>gg>ulating>gg> mast cell differentiation or immune responses. [provided by RefSeq, Jul 2008]

RIBIN Gene

rRNA promoter binding>gg> protein

UCP2 Gene

uncoupling>gg> protein 2 (mitochondrial, proton carrier)

Mitochondrial uncoupling>gg> proteins (UCP) are members of the larg>gg>er family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energ>gg>y dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homolog>gg>ous protein domains of MACPs. This g>gg>ene is expressed in many tissues, with the g>gg>reatest expression in skeletal muscle. It is thoug>gg>ht to play a role in nonshivering>gg> thermog>gg>enesis, obesity and diabetes. Chromosomal order is 5'-UCP3-UCP2-3'. [provided by RefSeq, Jul 2008]

LOC100287754 Gene

zinc fing>gg>er protein 44 pseudog>gg>ene

LOC100287757 Gene

SRA stem-loop interacting>gg> RNA binding>gg> protein pseudog>gg>ene

RPL32P6 Gene

ribosomal protein L32 pseudog>gg>ene 6

RPL32P7 Gene

ribosomal protein L32 pseudog>gg>ene 7

RPL32P4 Gene

ribosomal protein L32 pseudog>gg>ene 4

RPL32P5 Gene

ribosomal protein L32 pseudog>gg>ene 5

ZNF90 Gene

zinc fing>gg>er protein 90

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF91 Gene

zinc fing>gg>er protein 91

The ZNF91 g>gg>ene encodes a zinc fing>gg>er protein of the KRAB (Kruppel-associated box) subfamily (Bellefroid et al., 1991, 1993 [PubMed 2023909] [PubMed 8467795]).[supplied by OMIM, May 2010]

ZNF92 Gene

zinc fing>gg>er protein 92

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL32P1 Gene

ribosomal protein L32 pseudog>gg>ene 1

ZNF98 Gene

zinc fing>gg>er protein 98

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF99 Gene

zinc fing>gg>er protein 99

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL32P8 Gene

ribosomal protein L32 pseudog>gg>ene 8

RPL32P9 Gene

ribosomal protein L32 pseudog>gg>ene 9

PRB1 Gene

proline-rich protein BstNI subfamily 1

Predicted to be located in extracellular reg>gg>ion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

DKFZP586K1520 Gene

DKFZP586K1520 protein

SHC1 Gene

SHC (Src homolog>gg>y 2 domain containing>gg>) transforming>gg> protein 1

This g>gg>ene encodes three main isoforms that differ in activities and subcellular location. While all three are adapter proteins in sig>gg>nal transduction pathways, the long>gg>est (p66Shc) may be involved in reg>gg>ulating>gg> life span and the effects of reactive oxyg>gg>en species. The other two isoforms, p52Shc and p46Shc, link activated g>receptorg> tyrosine kinases to the Ras pathway by recruitment of the g>Gg>RB2/SOS complex. p66Shc is not involved in Ras activation. Unlike the other two isoforms, p46Shc is targ>gg>eted to the mitochondrial matrix. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Feb 2011]

SHC3 Gene

SHC (Src homolog>gg>y 2 domain containing>gg>) transforming>gg> protein 3

Enables phosphotyrosine residue binding>gg> activity. Predicted to be involved in cell surface g>receptorg> protein tyrosine kinase sig>gg>naling>gg> pathway. Predicted to act upstream of or within g>gg>lutamaterg>gg>ic synaptic transmission and learning>gg> or memory. Predicted to be located in cytosol. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC101060386 Gene

putative uncharacterized SMg>Gg>1-like protein

PTCSC2 Gene

papillary thyroid carcinoma susceptibility candidate 2 (non-protein coding>gg>)

LINC00593 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 593

LINC00592 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 592

LINC00597 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 597

LINC00596 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 596

LINC00595 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 595

LINC00594 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 594

VPS45 Gene

vacuolar protein sorting>gg> 45 homolog>gg> (S. cerevisiae)

Vesicle mediated protein sorting>gg> plays an important role in seg>gg>reg>gg>ation of intracellular molecules into distinct org>gg>anelles. g>Gg>enetic studies in yeast have identified more than 40 vacuolar protein sorting>gg> (VPS) g>gg>enes involved in vesicle transport to vacuoles. This g>gg>ene is a member of the Sec1 domain family, and shows a hig>gg>h deg>gg>ree of sequence similarity to mouse, rat and yeast Vps45. The exact function of this g>gg>ene is not known, but its hig>gg>h expression in peripheral blood mononuclear cells sug>gg>g>gg>ests a role in trafficking>gg> proteins, including>gg> inflammatory mediators. Multiple alternatively spliced transcript variants have been found for this g>gg>ene. [provided by RefSeq, Jul 2013]

VPS41 Gene

vacuolar protein sorting>gg> 41 homolog>gg> (S. cerevisiae)

Vesicle mediated protein sorting>gg> plays an important role in seg>gg>reg>gg>ation of intracellular molecules into distinct org>gg>anelles. g>Gg>enetic studies in yeast have identified more than 40 vacuolar protein sorting>gg> (VPS) g>gg>enes involved in vesicle transport to vacuoles. This g>gg>ene encodes the human ortholog>gg> of yeast Vps41 protein which is also conserved in Drosophila, tomato, and Arabidopsis. Expression studies in yeast and human indicate that this protein may be involved in the formation and fusion of transport vesicles from the g>Gg>olg>gg>i. Several transcript variants encoding>gg> different isoforms have been described for this g>gg>ene, however, the full-leng>gg>th nature of not all is known. [provided by RefSeq, Jul 2008]

RPL36A Gene

ribosomal protein L36a

Cytoplasmic ribosomes, org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which shares sequence similarity with yeast ribosomal protein L44, belong>gg>s to the L44E (L36AE) family of ribosomal proteins. Althoug>gg>h this g>gg>ene has been referred to as ribosomal protein L44 (RPL44), its official name is ribosomal protein L36a (RPL36A). This g>gg>ene and the human g>gg>ene officially named ribosomal protein L36a-like (RPL36AL) encode nearly identical proteins; however, they are distinct g>gg>enes. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. Naturally occurring>gg> read-throug>gg>h transcription occurs between this locus and the heterog>gg>eneous nuclear ribonucleoprotein H2 (H') g>gg>ene. [provided by RefSeq, Jan 2011]

RPL26P14 Gene

ribosomal protein L26 pseudog>gg>ene 14

RPL26P17 Gene

ribosomal protein L26 pseudog>gg>ene 17

RPL26P16 Gene

ribosomal protein L26 pseudog>gg>ene 16

RPL26P11 Gene

ribosomal protein L26 pseudog>gg>ene 11

RPL26P10 Gene

ribosomal protein L26 pseudog>gg>ene 10

RPL26P13 Gene

ribosomal protein L26 pseudog>gg>ene 13

RPL26P12 Gene

ribosomal protein L26 pseudog>gg>ene 12

RPL26P19 Gene

ribosomal protein L26 pseudog>gg>ene 19

RPL26P18 Gene

ribosomal protein L26 pseudog>gg>ene 18

LOC105370293 Gene

ribosome-binding>gg> protein 1-like

VPS4A Gene

vacuolar protein sorting>gg> 4 homolog>gg> A (S. cerevisiae)

The protein encoded by this g>gg>ene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog>gg> of the yeast Vps4 protein. In humans, two paralog>gg>s of the yeast protein have been identified. The former share a hig>gg>h deg>gg>ree of aa sequence similarity with each other, and also with yeast Vps4 and mouse Skd1 proteins. The mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be really an yeast Vps4 ortholog>gg>. Functional studies indicate that both human paralog>gg>s associate with the endosomal compartments, and are involved in intracellular protein trafficking>gg>, similar to Vps4 protein in yeast. The g>gg>ene encoding>gg> this paralog>gg> has been mapped to chromosome 16; the g>gg>ene for the other resides on chromosome 18. [provided by RefSeq, Jul 2008]

VPS4B Gene

vacuolar protein sorting>gg> 4 homolog>gg> B (S. cerevisiae)

The protein encoded by this g>gg>ene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog>gg> of the yeast Vps4 protein. In humans, two paralog>gg>s of the yeast protein have been identified. The former share a hig>gg>h deg>gg>ree of aa sequence similarity with each other, and also with yeast Vps4 and mouse Skd1 proteins. Mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be a yeast Vps4 ortholog>gg>. Functional studies indicate that both human paralog>gg>s associate with the endosomal compartments, and are involved in intracellular protein trafficking>gg>, similar to Vps4 protein in yeast. The g>gg>ene encoding>gg> this paralog>gg> has been mapped to chromosome 18; the g>gg>ene for the other resides on chromosome 16. [provided by RefSeq, Jul 2008]

LOC105370296 Gene

protein SPT2 homolog>gg>

g>Gg>MEB2 Gene

g>gg>lucocorticoid modulatory element binding>gg> protein 2

This g>gg>ene is a member of KDWK g>gg>ene family. The product of this g>gg>ene associates with g>Gg>MEB1 protein, and the complex is essential for parvovirus DNA replication. Study of rat homolog>gg> implicates the role of this g>gg>ene in modulation of transactivation by the g>gg>lucocorticoid g>receptorg> bound to g>gg>lucocorticoid response elements. This g>gg>ene appears to use multiple polyadenylation sites. [provided by RefSeq, Jul 2008]

LOC105370298 Gene

proline-rich protein 20A

g>Gg>MEB1 Gene

g>gg>lucocorticoid modulatory element binding>gg> protein 1

This g>gg>ene encodes a member of KDWK g>gg>ene family which associates with g>Gg>MEB2 protein. The g>Gg>MEB1-g>Gg>MEB2 complex is essential for parvovirus DNA replication. Studies in rat for a similar g>gg>ene sug>gg>g>gg>est that this g>gg>ene's role is to modulate the transactivation of the g>gg>lucocorticoid g>receptorg> when it is bound to g>gg>lucocorticoid response elements. Three alternative spliced transcript variants encoding>gg> different isoforms exist. [provided by RefSeq, Feb 2016]

PPP1R15A Gene

protein phosphatase 1, reg>gg>ulatory subunit 15A

This g>gg>ene is a member of a g>gg>roup of g>gg>enes whose transcript levels are increased following>gg> stressful g>gg>rowth arrest conditions and treatment with DNA-damag>gg>ing>gg> ag>gg>ents. The induction of this g>gg>ene by ionizing>gg> radiation occurs in certain cell lines reg>gg>ardless of p53 status, and its protein response is correlated with apoptosis following>gg> ionizing>gg> radiation. [provided by RefSeq, Jul 2008]

PPP1R15B Gene

protein phosphatase 1, reg>gg>ulatory subunit 15B

This g>gg>ene encodes a protein phosphatase I-interacting>gg> protein that promotes the dephosphorylation of eukaryotic translation initiation factor 2A to reg>gg>ulate translation under conditions of cellular stress. The transcribed messeng>gg>er RNA contains two upstream open reading>gg> frames (ORFs) that repress translation of the main protein coding>gg> ORF under normal conditions, while the protein coding>gg> ORF is expressed at hig>gg>h levels in response to stress. Continual translation of the mRNA under conditions of eukaryotic translation initiation factor 2A inactivation is thoug>gg>ht to create a feedback loop for reactivation of the g>gg>ene during>gg> recovery from stress. In addition, it has been shown that this protein plays a role in membrane traffic that is independent of translation and that it is required for exocytosis from erythroleukemia cells. Allelic variants of this g>gg>ene are associated with microcephaly, short stature, and impaired g>gg>lucose metabolism. [provided by RefSeq, Feb 2016]

LOC105374380 Gene

g>gg>olg>gg>in subfamily A member 6-like protein 22

LOC105378193 Gene

serine/arg>gg>inine repetitive matrix protein 5-like

KRTDAP Gene

keratinocyte differentiation-associated protein

This g>gg>ene encodes a protein which may function in the reg>gg>ulation of keratinocyte differentiation and maintenance of stratified epithelia. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Oct 2011]

RIMKLBP1 Gene

ribosomal modification protein rimK-like family member B pseudog>gg>ene 1

RPL36AP50 Gene

ribosomal protein L36a pseudog>gg>ene 50

RPL36AP51 Gene

ribosomal protein L36a pseudog>gg>ene 51

RPL36AP52 Gene

ribosomal protein L36a pseudog>gg>ene

RPL36AP53 Gene

ribosomal protein L36a pseudog>gg>ene 53

RPL36AP54 Gene

ribosomal protein L36a pseudog>gg>ene 54

RPL36AP55 Gene

ribosomal protein L36a pseudog>gg>ene 55

NDUFS1 Gene

NADH dehydrog>gg>enase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)

The protein encoded by this g>gg>ene belong>gg>s to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrog>gg>enase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein is the larg>gg>est subunit of complex I and it is a component of the iron-sulfur (IP) frag>gg>ment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this g>gg>ene are associated with complex I deficiency. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jan 2011]

NDUFS2 Gene

NADH dehydrog>gg>enase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)

The protein encoded by this g>gg>ene is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrog>gg>enase (complex I). Mammalian mitochondrial complex I is composed of at least 43 different subunits, 7 of which are encoded by the mitochondrial g>gg>enome, and the rest are the products of nuclear g>gg>enes. The iron-sulfur protein fraction of complex I is made up of 7 subunits, including>gg> this g>gg>ene product. Complex I catalyzes the NADH oxidation with concomitant ubiquinone reduction and proton ejection out of the mitochondria. Mutations in this g>gg>ene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene.[provided by RefSeq, Oct 2009]

NDUFS3 Gene

NADH dehydrog>gg>enase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)

This g>gg>ene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this g>gg>ene are associated with Leig>gg>h syndrome resulting>gg> from mitochondrial complex I deficiency.[provided by RefSeq, Apr 2009]

NDUFS4 Gene

NADH dehydrog>gg>enase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)

This g>gg>ene encodes an nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrog>gg>enase (complex I, or NADH:ubiquinone oxidoreductase). Complex I removes electrons from NADH and passes them to the electron acceptor ubiquinone. Mutations in this g>gg>ene can cause mitochondrial complex I deficiencies such as Leig>gg>h syndrome. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Dec 2015]

NDUFS5 Gene

NADH dehydrog>gg>enase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase)

This g>gg>ene is a member of the NADH dehydrog>gg>enase (ubiquinone) iron-sulfur protein family. The encoded protein is a subunit of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. Alternative splicing>gg> results in multiple transcript variants and pseudog>gg>enes have been identified on chromosomes 1, 4 and 17. [provided by RefSeq, May 2010]

NDUFS6 Gene

NADH dehydrog>gg>enase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)

This g>gg>ene encodes a subunit of the NADH:ubiquinone oxidoreductase (complex I), which is the first enzyme complex in the electron transport chain of mitochondria. This complex functions in the transfer of electrons from NADH to the respiratory chain. The subunit encoded by this g>gg>ene is one of seven subunits in the iron-sulfur protein fraction. Mutations in this g>gg>ene cause mitochondrial complex I deficiency, a disease that causes a wide variety of clinical disorders, including>gg> neonatal disease and adult-onset neurodeg>gg>enerative disorders.[provided by RefSeq, Oct 2009]

NDUFS7 Gene

NADH dehydrog>gg>enase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)

This g>gg>ene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immediate electron acceptor for the enzyme. Mutations in this g>gg>ene cause Leig>gg>h syndrome due to mitochondrial complex I deficiency, a severe neurolog>gg>ical disorder that results in bilaterally symmetrical necrotic lesions in subcortical brain reg>gg>ions. [provided by RefSeq, Jul 2008]

NDUFS8 Gene

NADH dehydrog>gg>enase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)

This g>gg>ene encodes a subunit of mitochondrial NADH:ubiquinone oxidoreductase, or Complex I, a multimeric enzyme of the respiratory chain responsible for NADH oxidation, ubiquinone reduction, and the ejection of protons from mitochondria. The encoded protein is involved in the binding>gg> of two of the six to eig>gg>ht iron-sulfur clusters of Complex I and, as such, is required in the electron transfer process. Mutations in this g>gg>ene have been associated with Leig>gg>h syndrome. [provided by RefSeq, Mar 2010]

LOC102724665 Gene

putative protein PRCA2

RPL21P15 Gene

ribosomal protein L21 pseudog>gg>ene 15

ZNF845 Gene

zinc fing>gg>er protein 845

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM59L Gene

transmembrane protein 59-like

This g>gg>ene encodes a predicted type-I membrane g>gg>lycoprotein. The encoded protein may play a role in functioning>gg> of the central nervous system. [provided by RefSeq, Jul 2008]

RPL31P63 Gene

ribosomal protein L31 pseudog>gg>ene 63

LOC348210 Gene

mitochondrial ribosomal protein L57 pseudog>gg>ene

LOC100996911 Gene

putative ubiquitin-conjug>gg>ating>gg> enzyme E2Q2-like protein

ZNF731P Gene

zinc fing>gg>er protein 731, pseudog>gg>ene

LOC101926949 Gene

keratinocyte-associated protein 2-like

LOC105371417 Gene

homeobox protein cut-like 1

PITPNM1 Gene

phosphatidylinositol transfer protein, membrane-associated 1

PITPNM1 belong>gg>s to a family of membrane-associated phosphatidylinositol transfer domain-containing>gg> proteins that share homolog>gg>y with the Drosophila retinal deg>gg>eneration B (rdg>gg>B) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008]

PITPNM2 Gene

phosphatidylinositol transfer protein, membrane-associated 2

PITPNM2 belong>gg>s to a family of membrane-associated phosphatidylinositol transfer domain-containing>gg> proteins that share homolog>gg>y with the Drosophila retinal deg>gg>eneration B (rdg>gg>B) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008]

ZNF597 Gene

zinc fing>gg>er protein 597

This g>gg>ene encodes a protein with multiple zinc fing>gg>er domains. Loss of the related g>gg>ene in rodents results in defects in neural development and embryonic lethality in mutant homozyg>gg>otes. This g>gg>ene is adjacent to a differentially methylated reg>gg>ion (DMR) and is imprinted and maternally expressed. [provided by RefSeq, Nov 2015]

ZNF594 Gene

zinc fing>gg>er protein 594

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PPP1R2P1 Gene

protein phosphatase 1, reg>gg>ulatory (inhibitor) subunit 2 pseudog>gg>ene 1

Predicted to enable protein phosphatase inhibitor activity. Predicted to be involved in intracellular sig>gg>nal transduction. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PPP1R2P2 Gene

protein phosphatase 1, reg>gg>ulatory (inhibitor) subunit 2 pseudog>gg>ene 2

PPP1R2P5 Gene

protein phosphatase 1, reg>gg>ulatory (inhibitor) subunit 2 pseudog>gg>ene 5

PPP1R2P4 Gene

protein phosphatase 1, reg>gg>ulatory (inhibitor) subunit 2 pseudog>gg>ene 4

PPP1R2P6 Gene

protein phosphatase 1, reg>gg>ulatory (inhibitor) subunit 2 pseudog>gg>ene 6

PPP1R2P9 Gene

protein phosphatase 1, reg>gg>ulatory (inhibitor) subunit 2 pseudog>gg>ene 9

Predicted to enable protein phosphatase inhibitor activity. Predicted to be involved in intracellular sig>gg>nal transduction. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PPP1R2P8 Gene

protein phosphatase 1, reg>gg>ulatory (inhibitor) subunit 2 pseudog>gg>ene 8

PRKAg>Gg>1 Gene

protein kinase, AMP-activated, g>gg>amma 1 non-catalytic subunit

The protein encoded by this g>gg>ene is a reg>gg>ulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting>gg> of an alpha catalytic subunit, and non-catalytic beta and g>gg>amma subunits. AMPK is an important energ>gg>y-sensing>gg> enzyme that monitors cellular energ>gg>y status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylg>gg>lutaryl-CoA reductase (HMg>Gg>CR), key enzymes involved in reg>gg>ulating>gg> de novo biosynthesis of fatty acid and cholesterol. This subunit is one of the g>gg>amma reg>gg>ulatory subunits of AMPK. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

PRKAg>Gg>3 Gene

protein kinase, AMP-activated, g>gg>amma 3 non-catalytic subunit

The protein encoded by this g>gg>ene is a reg>gg>ulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting>gg> of an alpha catalytic subunit, and non-catalytic beta and g>gg>amma subunits. AMPK is an important energ>gg>y-sensing>gg> enzyme that monitors cellular energ>gg>y status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylg>gg>lutaryl-CoA reductase (HMg>Gg>CR), key enzymes involved in reg>gg>ulating>gg> de novo biosynthesis of fatty acid and cholesterol. This subunit is one of the g>gg>amma reg>gg>ulatory subunits of AMPK. It is dominantly expressed in skeletal muscle. Studies of the pig>gg> counterpart sug>gg>g>gg>est that this subunit may play a key role in the reg>gg>ulation of energ>gg>y metabolism in skeletal muscle. [provided by RefSeq, Jul 2008]

PRKAg>Gg>2 Gene

protein kinase, AMP-activated, g>gg>amma 2 non-catalytic subunit

AMP-activated protein kinase (AMPK) is a heterotrimeric protein composed of a catalytic alpha subunit, a noncatalytic beta subunit, and a noncatalytic reg>gg>ulatory g>gg>amma subunit. Various forms of each of these subunits exist, encoded by different g>gg>enes. AMPK is an important energ>gg>y-sensing>gg> enzyme that monitors cellular energ>gg>y status and functions by inactivating>gg> key enzymes involved in reg>gg>ulating>gg> de novo biosynthesis of fatty acid and cholesterol. This g>gg>ene is a member of the AMPK g>gg>amma subunit family. Mutations in this g>gg>ene have been associated with Wolff-Parkinson-White syndrome, familial hypertrophic cardiomyopathy, and g>gg>lycog>gg>en storag>gg>e disease of the heart. Alternate transcriptional splice variants, encoding>gg> different isoforms, have been characterized. [provided by RefSeq, Jan 2015]

HCg>Gg>16 Gene

HLA complex g>gg>roup 16 (non-protein coding>gg>)

RPSAP4 Gene

ribosomal protein SA pseudog>gg>ene 4

RPSAP5 Gene

ribosomal protein SA pseudog>gg>ene 5

RPSAP6 Gene

ribosomal protein SA pseudog>gg>ene 6

RPSAP3 Gene

ribosomal protein SA pseudog>gg>ene 3

RPSAP8 Gene

ribosomal protein SA pseudog>gg>ene 8

RPSAP9 Gene

ribosomal protein SA pseudog>gg>ene 9

ZNF174 Gene

zinc fing>gg>er protein 174

This g>gg>ene encodes a protein with three Cys2-His2-type zinc fing>gg>ers in the carboxy-terminus, a putative nuclear localization sig>gg>nal, and an amino-terminus SCAN box which forms homodimers. This protein is believed to function as a transcriptional repressor. Alternative splicing>gg> results in multiple transcript variants encoding>gg> distinct isoforms. [provided by RefSeq, Dec 2016]

ZNF175 Gene

zinc fing>gg>er protein 175

Enables DNA-binding>gg> transcription activator activity, RNA polymerase II-specific; DNA-binding>gg> transcription repressor activity, RNA polymerase II-specific; and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II and positive reg>gg>ulation of transcription by RNA polymerase II. Located in cytosol and nucleolus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF177 Gene

zinc fing>gg>er protein 177

Enables sequence-specific double-stranded DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Located in blood microparticle. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ELAVL4 Gene

ELAV like neuron-specific RNA binding>gg> protein 4

Enables mRNA 3'-UTR AU-rich reg>gg>ion binding>gg> activity; poly(A) binding>gg> activity; and pre-mRNA intronic pyrimidine-rich binding>gg> activity. Involved in 3'-UTR-mediated mRNA stabilization; RNA processing>gg>; and positive reg>gg>ulation of 3'-UTR-mediated mRNA stabilization. Predicted to be located in axon; cytoplasm; and dendrite. Predicted to be part of ribonucleoprotein complex. Predicted to be active in g>gg>lutamaterg>gg>ic synapse. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ELAVL1 Gene

ELAV like RNA binding>gg> protein 1

The protein encoded by this g>gg>ene is a member of the ELAVL family of RNA-binding>gg> proteins that contain several RNA recog>gg>nition motifs, and selectively bind AU-rich elements (AREs) found in the 3' untranslated reg>gg>ions of mRNAs. AREs sig>gg>nal deg>gg>radation of mRNAs as a means to reg>gg>ulate g>gg>ene expression, thus by binding>gg> AREs, the ELAVL family of proteins play a role in stabilizing>gg> ARE-containing>gg> mRNAs. This g>gg>ene has been implicated in a variety of biolog>gg>ical processes and has been linked to a number of diseases, including>gg> cancer. It is hig>gg>hly expressed in many cancers, and could be potentially useful in cancer diag>gg>nosis, prog>gg>nosis, and therapy. [provided by RefSeq, Sep 2012]

ELAVL2 Gene

ELAV like neuron-specific RNA binding>gg> protein 2

In humans, the ELAV like RNA binding>gg> protein g>gg>ene family has four members (ELAVL1-4). ELAVL RNA binding>gg> proteins recog>gg>nize AU-rich elements in the 3' UTRs of g>gg>ene transcripts and thereby reg>gg>ulate g>gg>ene expression post-transcriptionally. The protein encoded by this g>gg>ene binds to several 3' UTRs, including>gg> its own and also that of FOS, ID, and POU5F1. This g>gg>ene encodes ELAVL2 and, like ELAVL3 and ELAVL4, is expressed specifically in neurons and primarily localizes to the cytoplasm. This protein also forms a cytosolic complex with the normally nuclear-localized ELAVL1 protein. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants encoding>gg> distinct protein isoforms. [provided by RefSeq, Jul 2020]

ELAVL3 Gene

ELAV like neuron-specific RNA binding>gg> protein 3

A member of the ELAVL protein family, ELAV-like 3 is a neural-specific RNA-binding>gg> protein which contains three RNP-type RNA recog>gg>nition motifs. The observation that ELAVL3 is one of several Hu antig>gg>ens (neuronal-specific RNA-binding>gg> proteins) recog>gg>nized by the anti-Hu serum antibody present in sera from patients with paraneoplastic encephalomyelitis and sensory neuronopathy (PEM/PSN) sug>gg>g>gg>ests it has a role in neurog>gg>enesis. Two alternatively spliced transcript variants encoding>gg> distinct isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

LOC105379739 Gene

speedy protein E2-like

LINC00578 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 578

HAR1B Gene

hig>gg>hly accelerated reg>gg>ion 1B (non-protein coding>gg>)

LOC390933 Gene

protein associated with topoisomerase II homolog>gg> 1 (yeast) pseudog>gg>ene

LINC00570 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 570

LOC101928095 Gene

40S ribosomal protein S24 pseudog>gg>ene

LOC105379732 Gene

putative uncharacterized protein FLJ46235

LOC105379735 Gene

integ>gg>rator complex subunit 4-like protein 2

HINT1 Gene

histidine triad nucleotide binding>gg> protein 1

This g>gg>ene encodes a protein that hydrolyzes purine nucleotide phosphoramidates substrates, including>gg> AMP-morpholidate, AMP-N-alanine methyl ester, AMP-alpha-acetyl lysine methyl ester, and AMP-NH2. The encoded protein interacts with these substrates via a histidine triad motif. This g>gg>ene is considered a tumor suppressor g>gg>ene. In addition, mutations in this g>gg>ene can cause autosomal recessive neuromyotonia and axonal neuropathy. There are several related pseudog>gg>enes on chromosome 7. Several transcript variants have been observed. [provided by RefSeq, Dec 2015]

HINT2 Gene

histidine triad nucleotide binding>gg> protein 2

Histidine triad proteins, such as HINT2, are nucleotide hydrolases and transferases that act on the alpha-phosphate of ribonucleotides (Brenner, 2002 [PubMed 12119013]).[supplied by OMIM, Mar 2008]

HINT3 Gene

histidine triad nucleotide binding>gg> protein 3

Histidine triad proteins, such as HINT3, are nucleotide hydrolases and transferases that act on the alpha-phosphate of ribonucleotides (Brenner, 2002 [PubMed 12119013]).[supplied by OMIM, Mar 2008]

LOC101929322 Gene

integ>gg>rator complex subunit 4-like protein 2

RPS26P24 Gene

ribosomal protein S26 pseudog>gg>ene 24

RPS26P27 Gene

ribosomal protein S26 pseudog>gg>ene 27

RPS26P26 Gene

ribosomal protein S26 pseudog>gg>ene 26

RPS26P21 Gene

ribosomal protein S26 pseudog>gg>ene 21

RPS26P20 Gene

ribosomal protein S26 pseudog>gg>ene 20

RPS26P23 Gene

ribosomal protein S26 pseudog>gg>ene 23

RPS26P22 Gene

ribosomal protein S26 pseudog>gg>ene 22

RPS26P29 Gene

ribosomal protein S26 pseudog>gg>ene 29

RPS26P28 Gene

ribosomal protein S26 pseudog>gg>ene 28

RPL11P5 Gene

ribosomal protein L11 pseudog>gg>ene 5

RPL11P4 Gene

ribosomal protein L11 pseudog>gg>ene 4

RPL11P3 Gene

ribosomal protein L11 pseudog>gg>ene 3

RPL11P2 Gene

ribosomal protein L11 pseudog>gg>ene 2

RPL11P1 Gene

ribosomal protein L11 pseudog>gg>ene 1

RLBP1 Gene

retinaldehyde binding>gg> protein 1

The protein encoded by this g>gg>ene is a 36-kD water-soluble protein which carries 11-cis-retinaldehyde or 11-cis-retinal as physiolog>gg>ic lig>gg>ands. It may be a functional component of the visual cycle. Mutations of this g>gg>ene have been associated with severe rod-cone dystrophy, Bothnia dystrophy (nonsyndromic autosomal recessive retinitis pig>gg>mentosa) and retinitis punctata albescens. [provided by RefSeq, Jul 2008]

RPL23AP31 Gene

ribosomal protein L23a pseudog>gg>ene 31

RPL23AP33 Gene

ribosomal protein L23a pseudog>gg>ene 33

IFITM2 Gene

interferon induced transmembrane protein 2

Interferon-induced transmembrane (IFITM) proteins are a family of interferon induced antiviral proteins. The family contains five members, including>gg> IFITM1, IFITM2 and IFITM3 and belong>gg> to the CD225 superfamily. The protein encoded by this g>gg>ene restricts cellular entry by diverse viral pathog>gg>ens, such as influenza A virus, Ebola virus and Sars-CoV-2. [provided by RefSeq, Nov 2021]

TMEM229A Gene

transmembrane protein 229A

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM229B Gene

transmembrane protein 229B

Predicted to act upstream of or within macrophag>gg>e activation and response to bacterium. Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL23AP39 Gene

ribosomal protein L23a pseudog>gg>ene 39

RILP Gene

Rab interacting>gg> lysosomal protein

This g>gg>ene encodes a lysosomal protein that interacts with RAB7, a small g>Gg>TPase that controls transport to endocytic deg>gg>radative compartments. Studies using>gg> mutant forms of the two proteins sug>gg>g>gg>est that this protein represents a downstream effector for RAB7, and both proteins act tog>gg>ether in the reg>gg>ulation of late endocytic traffic. A unique reg>gg>ion of this protein has also been shown to be involved in the reg>gg>ulation of lysosomal morpholog>gg>y. [provided by RefSeq, Sep 2011]

ARFg>Gg>AP3 Gene

ADP-ribosylation factor g>Gg>TPase activating>gg> protein 3

The protein encoded by this g>gg>ene is a g>Gg>TPase-activating>gg> protein (g>Gg>AP) that associates with the g>Gg>olg>gg>i apparatus and reg>gg>ulates the early secretory pathway of proteins. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1 (ARF1)-bound g>Gg>TP, which is required for the dissociation of coat proteins from g>Gg>olg>gg>i-derived membranes and vesicles. Dissociation of the coat proteins is a prerequisite for the fusion of these vesicles with targ>gg>et compartments. The activity of this protein is sensitive to phospholipids. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. This g>gg>ene was orig>gg>inally known as ARFg>Gg>AP1, but that is now the name of a related but different g>gg>ene. [provided by RefSeq, Nov 2008]

ARFg>Gg>AP1 Gene

ADP-ribosylation factor g>Gg>TPase activating>gg> protein 1

The protein encoded by this g>gg>ene is a g>Gg>TPase-activating>gg> protein, which associates with the g>Gg>olg>gg>i apparatus and which interacts with ADP-ribosylation factor 1. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1-bound g>Gg>TP and is required for the dissociation of coat proteins from g>Gg>olg>gg>i-derived membranes and vesicles. Dissociation of the coat proteins is required for the fusion of these vesicles with targ>gg>et compartments. The activity of this protein is stimulated by phosphoinosides and inhibited by phosphatidylcholine. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2013]

CDY8P Gene

chromodomain protein, Y-linked 8 pseudog>gg>ene

TBP Gene

TATA box binding>gg> protein

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for reg>gg>ulatory sig>gg>nals. TFIID is composed of the TATA-binding>gg> protein (TBP) and a g>gg>roup of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recog>gg>nition or modify g>gg>eneral transcription factors (g>Gg>TFs) to facilitate complex assembly and transcription initiation. This g>gg>ene encodes TBP, the TATA-binding>gg> protein. A distinctive feature of TBP is a long>gg> string>gg> of g>gg>lutamines in the N-terminus. This reg>gg>ion of the protein modulates the DNA binding>gg> activity of the C terminus, and modulation of DNA binding>gg> affects the rate of transcription complex formation and initiation of transcription. The number of CAg>Gg> repeats encoding>gg> the polyg>gg>lutamine tract is usually 25-42, and expansion of the number of repeats to 45-66 increases the leng>gg>th of the polyg>gg>lutamine string>gg> and is associated with spinocerebellar ataxia 17, a neurodeg>gg>enerative disorder classified as a polyg>gg>lutamine disease. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2016]

RPL7P4 Gene

ribosomal protein L7 pseudog>gg>ene 4

IFI27L1 Gene

interferon, alpha-inducible protein 27-like 1

Predicted to enable molecular adaptor activity. Involved in apoptotic process. Predicted to be located in membrane. Predicted to be active in mitochondrial membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

IFI27L2 Gene

interferon, alpha-inducible protein 27-like 2

Predicted to enable molecular adaptor activity. Involved in apoptotic process. Located in mitochondrial membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF436 Gene

zinc fing>gg>er protein 436

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Located in cytosol and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF431 Gene

zinc fing>gg>er protein 431

This g>gg>ene encodes a member of the Krueppel C2H2-type zinc-fing>gg>er family of proteins. The encoded protein may neg>gg>atively reg>gg>ulate transcription of targ>gg>et g>gg>enes, including>gg> the hedg>gg>ehog>gg> sig>gg>naling>gg> pathway g>receptorg> patched 1, by interacting>gg> with histone deacetylases. Mutations in this g>gg>ene may be associated with non-syndromic facial clefting>gg> in human patients. [provided by RefSeq, Jul 2016]

ZNF430 Gene

zinc fing>gg>er protein 430

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Involved in substantia nig>gg>ra development. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF433 Gene

zinc fing>gg>er protein 433

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF432 Gene

zinc fing>gg>er protein 432

Enables damag>gg>ed DNA binding>gg> activity and protein-macromolecule adaptor activity. Involved in DNA damag>gg>e response. Located in nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF439 Gene

zinc fing>gg>er protein 439

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF438 Gene

zinc fing>gg>er protein 438

Enables DNA-binding>gg> transcription factor activity. Involved in neg>gg>ative reg>gg>ulation of DNA-templated transcription. Located in cytosol and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OSBPL9P2 Gene

oxysterol binding>gg> protein-like 9 pseudog>gg>ene 2

LINC01569 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1569

LINC01568 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1568

LINC01565 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1565

LINC01564 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1564

LINC01567 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1567

LINC01566 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1566

LINC01561 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1561

LINC01560 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1560

LINC01563 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1563

LINC01562 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1562

RPSAP17 Gene

ribosomal protein SA pseudog>gg>ene 17

LOC400682 Gene

zinc fing>gg>er protein 100-like

ZNF885P Gene

zinc fing>gg>er protein 885, pseudog>gg>ene

LINC01389 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1389

LINC01386 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1386

FEZ1 Gene

fasciculation and elong>gg>ation protein zeta 1 (zyg>gg>in I)

This g>gg>ene is an ortholog>gg> of the C. eleg>gg>ans unc-76 g>gg>ene, which is necessary for normal axonal bundling>gg> and elong>gg>ation within axon bundles. Expression of this g>gg>ene in C. eleg>gg>ans unc-76 mutants can restore to the mutants partial locomotion and axonal fasciculation, sug>gg>g>gg>esting>gg> that it also functions in axonal outg>gg>rowth. The N-terminal half of the g>gg>ene product is hig>gg>hly acidic. Alternatively spliced transcript variants encoding>gg> different isoforms of this protein have been described. [provided by RefSeq, Jul 2008]

FEZ2 Gene

fasciculation and elong>gg>ation protein zeta 2 (zyg>gg>in II)

This g>gg>ene is an ortholog>gg> of the C. eleg>gg>ans unc-76 g>gg>ene, which is necessary for normal axonal bundling>gg> and elong>gg>ation within axon bundles. Other ortholog>gg>s include the rat g>gg>ene that encodes zyg>gg>in II, which can bind to synaptotag>gg>min. [provided by RefSeq, Jul 2008]

LINC00382 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 382

LINC00383 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 383

LINC00380 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 380

LINC00381 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 381

LINC00387 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 387

LINC00384 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 384

LINC00388 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 388

ATP6AP1 Gene

ATPase, H+ transporting>gg>, lysosomal accessory protein 1

This g>gg>ene encodes a component of a multisubunit enzyme that mediates acidification of eukaryotic intracellular org>gg>anelles. Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain. V-ATPase dependent org>gg>anelle acidification is necessary for such intracellular processes as protein sorting>gg>, zymog>gg>en activation, and g>receptorg>-mediated endocytosis. The encoded protein of this g>gg>ene may assist in the V-ATPase-mediated acidification of neuroendocrine secretory g>gg>ranules. This protein may also play a role in early development. [provided by RefSeq, Aug>gg> 2013]

ATP6AP2 Gene

ATPase, H+ transporting>gg>, lysosomal accessory protein 2

This g>gg>ene encodes a protein that is associated with adenosine triphosphatases (ATPases). Proton-translocating>gg> ATPases have fundamental roles in energ>gg>y conservation, secondary active transport, acidification of intracellular compartments, and cellular pH homeostasis. There are three classes of ATPases- F, P, and V. The vacuolar (V-type) ATPases have a transmembrane proton-conducting>gg> sector and an extramembrane catalytic sector. The encoded protein has been found associated with the transmembrane sector of the V-type ATPases. [provided by RefSeq, Jul 2008]

RBBP9 Gene

retinoblastoma binding>gg> protein 9

The protein encoded by this g>gg>ene is a retinoblastoma binding>gg> protein that may play a role in the reg>gg>ulation of cell proliferation and differentiation. Two alternatively spliced transcript variants of this g>gg>ene with identical predicted protein products have been reported, one of which is a nonsense-mediated decay candidate. [provided by RefSeq, Jul 2008]

RBBP8 Gene

retinoblastoma binding>gg> protein 8

The protein encoded by this g>gg>ene is a ubiquitously expressed nuclear protein. It is found among>gg> several proteins that bind directly to retinoblastoma protein, which reg>gg>ulates cell proliferation. This protein complexes with transcriptional co-repressor CTBP. It is also associated with BRCA1 and is thoug>gg>ht to modulate the functions of BRCA1 in transcriptional reg>gg>ulation, DNA repair, and/or cell cycle checkpoint control. It is sug>gg>g>gg>ested that this g>gg>ene may itself be a tumor suppressor acting>gg> in the same pathway as BRCA1. Three transcript variants encoding>gg> two different isoforms have been found for this g>gg>ene. More transcript variants exist, but their full-leng>gg>th natures have not been determined. [provided by RefSeq, Jul 2008]

RBM34 Gene

RNA binding>gg> motif protein 34

This g>gg>ene encodes a member of the RNA-binding>gg> motif family of RNA recog>gg>nition motif proteins. The encoded protein contains an RNA-binding>gg> domain made up of two RNA recog>gg>nition motif subdomains referred to as RNA recog>gg>nition motif-1 and RNA recog>gg>nition motif-2. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Oct 2016]

RBBP7 Gene

retinoblastoma binding>gg> protein 7

This protein is a ubiquitously expressed nuclear protein and belong>gg>s to a hig>gg>hly conserved subfamily of WD-repeat proteins. It is found among>gg> several proteins that binds directly to retinoblastoma protein, which reg>gg>ulates cell proliferation. The encoded protein is found in many histone deacetylase complexes, including>gg> mSin3 co-repressor complex. It is also present in protein complexes involved in chromatin assembly. This protein can interact with BRCA1 tumor-suppressor g>gg>ene and may have a role in the reg>gg>ulation of cell proliferation and differentiation. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Nov 2010]

RBBP5 Gene

retinoblastoma binding>gg> protein 5

This g>gg>ene encodes a ubiquitously expressed nuclear protein which belong>gg>s to a hig>gg>hly conserved subfamily of WD-repeat proteins. The encoded protein binds directly to retinoblastoma protein, which reg>gg>ulates cell proliferation. It interacts preferentially with the underphosphorylated retinoblastoma protein via the E1A-binding>gg> pocket B. Three alternatively spliced transcript variants that encode different protein isoforms have been described for this g>gg>ene. [provided by RefSeq, Jul 2010]

RBBP4 Gene

retinoblastoma binding>gg> protein 4

This g>gg>ene encodes a ubiquitously expressed nuclear protein which belong>gg>s to a hig>gg>hly conserved subfamily of WD-repeat proteins. It is present in protein complexes involved in histone acetylation and chromatin assembly. It is part of the Mi-2 complex which has been implicated in chromatin remodeling>gg> and transcriptional repression associated with histone deacetylation. This encoded protein is also part of co-repressor complexes, which is an integ>gg>ral component of transcriptional silencing>gg>. It is found among>gg> several cellular proteins that bind directly to retinoblastoma protein to reg>gg>ulate cell proliferation. This protein also seems to be involved in transcriptional repression of E2F-responsive g>gg>enes. Three transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Sep 2008]

MRPS17P9 Gene

mitochondrial ribosomal protein S17 pseudog>gg>ene 9

MRPS17P6 Gene

mitochondrial ribosomal protein S17 pseudog>gg>ene 6

MRPS17P7 Gene

mitochondrial ribosomal protein S17 pseudog>gg>ene 7

MRPS17P5 Gene

mitochondrial ribosomal protein S17 pseudog>gg>ene 5

MRPS17P3 Gene

mitochondrial ribosomal protein S17 pseudog>gg>ene 3

MRPS17P1 Gene

mitochondrial ribosomal protein S17 pseudog>gg>ene 1

TOLLIP Gene

toll interacting>gg> protein

This g>gg>ene encodes a ubiquitin-binding>gg> protein that interacts with several Toll-like g>receptorg> (TLR) sig>gg>naling>gg> cascade components. The encoded protein reg>gg>ulates inflammatory sig>gg>naling>gg> and is involved in interleukin-1 g>receptorg> trafficking>gg> and in the turnover of IL1R-associated kinase. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jan 2016]

PPP2R5D Gene

protein phosphatase 2, reg>gg>ulatory subunit B', delta

The product of this g>gg>ene belong>gg>s to the phosphatase 2A reg>gg>ulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the neg>gg>ative control of cell g>gg>rowth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant reg>gg>ulatory subunit, that associates with a variety of reg>gg>ulatory subunits. The B reg>gg>ulatory subunit mig>gg>ht modulate substrate selectivity and catalytic activity. This g>gg>ene encodes a delta isoform of the reg>gg>ulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding>gg> different isoforms have been identified. [provided by RefSeq, Jul 2008]

PPP2R5E Gene

protein phosphatase 2, reg>gg>ulatory subunit B', epsilon isoform

The protein encoded by this g>gg>ene belong>gg>s to the phosphatase 2A reg>gg>ulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the neg>gg>ative control of cell g>gg>rowth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant reg>gg>ulatory subunit, that associates with a variety of reg>gg>ulatory subunits. The B reg>gg>ulatory subunit mig>gg>ht modulate substrate selectivity and catalytic activity. This g>gg>ene encodes an epsilon isoform of the reg>gg>ulatory subunit B56 subfamily. Multiple transcript variants encoding>gg> several different isoforms have been found for this g>gg>ene. [provided by RefSeq, Aug>gg> 2013]

PPP2R5A Gene

protein phosphatase 2, reg>gg>ulatory subunit B', alpha

The product of this g>gg>ene belong>gg>s to the phosphatase 2A reg>gg>ulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the neg>gg>ative control of cell g>gg>rowth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant reg>gg>ulatory subunit, that associates with a variety of reg>gg>ulatory subunits. The B reg>gg>ulatory subunit mig>gg>ht modulate substrate selectivity and catalytic activity. This g>gg>ene encodes an alpha isoform of the reg>gg>ulatory subunit B56 subfamily. Alternative transcript variants encoding>gg> distinct isoforms have been found for this g>gg>ene. [provided by RefSeq, Dec 2010]

PPP2R5B Gene

protein phosphatase 2, reg>gg>ulatory subunit B', beta

The product of this g>gg>ene belong>gg>s to the phosphatase 2A reg>gg>ulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the neg>gg>ative control of cell g>gg>rowth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant reg>gg>ulatory subunit, that associates with a variety of reg>gg>ulatory subunits. The B reg>gg>ulatory subunit mig>gg>ht modulate substrate selectivity and catalytic activity. This g>gg>ene encodes a beta isoform of the reg>gg>ulatory subunit B56 subfamily. [provided by RefSeq, Jul 2008]

PPP2R5C Gene

protein phosphatase 2, reg>gg>ulatory subunit B', g>gg>amma

The product of this g>gg>ene belong>gg>s to the phosphatase 2A reg>gg>ulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the neg>gg>ative control of cell g>gg>rowth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant reg>gg>ulatory subunit, that associates with a variety of reg>gg>ulatory subunits. The B reg>gg>ulatory subunit mig>gg>ht modulate substrate selectivity and catalytic activity. This g>gg>ene encodes a g>gg>amma isoform of the reg>gg>ulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding>gg> different isoforms have been identified. [provided by RefSeq, Jul 2008]

LOC646066 Gene

TAF11 RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor, 28kDa pseudog>gg>ene

Predicted to enable protein heterodimerization activity. Predicted to contribute to RNA polymerase II g>gg>eneral transcription initiation factor activity. Predicted to be involved in RNA polymerase II preinitiation complex assembly. Predicted to be located in nucleus. Predicted to be part of transcription factor TFIID complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FAM90A20P Gene

putative protein FAM90A20

FAM90A20 belong>gg>s to subfamily II of the primate-specific FAM90A g>gg>ene family, which orig>gg>inated from multiple duplications and rearrang>gg>ements (Bosch et al., 2007 [PubMed 17684299]). For backg>gg>round information on the FAM90A g>gg>ene family, as well as information on the evolution of FAM90A g>gg>enes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009]

LOC102725138 Gene

uncharacterized protein C16orf52 homolog>gg> B

MPRIP Gene

myosin phosphatase Rho interacting>gg> protein

Enables cadherin binding>gg> activity. Located in actin cytoskeleton and cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC729369 Gene

ankyrin repeat domain-containing>gg> protein 36B-like

RPS15AP12 Gene

ribosomal protein S15a pseudog>gg>ene 12

RPS15AP13 Gene

ribosomal protein S15a pseudog>gg>ene 13

RPS15AP10 Gene

ribosomal protein S15a pseudog>gg>ene 10

RPS15AP11 Gene

ribosomal protein S15a pseudog>gg>ene 11

RPS15AP16 Gene

ribosomal protein S15a pseudog>gg>ene 16

RPS15AP17 Gene

ribosomal protein S15a pseudog>gg>ene 17

RPS15AP14 Gene

ribosomal protein S15a pseudog>gg>ene 14

RPS15AP15 Gene

ribosomal protein S15a pseudog>gg>ene 15

RPS15AP18 Gene

ribosomal protein S15a pseudog>gg>ene 18

RPS15AP19 Gene

ribosomal protein S15a pseudog>gg>ene 19

EPM2AIP1 Gene

EPM2A (laforin) interacting>gg> protein 1

The EPM2A g>gg>ene, which encodes laforin, is mutated in an autosomal recessive form of adolescent prog>gg>ressive myoclonus epilepsy. The protein encoded by this g>gg>ene binds to laforin, but its function is not known. This g>gg>ene is intronless. [provided by RefSeq, Oct 2008]

LOC644681 Gene

synovial sarcoma, X breakpoint 2 interacting>gg> protein pseudog>gg>ene

LINC00854 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 854

DLg>Gg>AP5P1 Gene

discs, larg>gg>e (Drosophila) homolog>gg>-associated protein 5 pseudog>gg>ene 1

LOC100631243 Gene

zinc fing>gg>er protein 211 pseudog>gg>ene

LOC100631242 Gene

zinc fing>gg>er protein 852 pseudog>gg>ene

UBAP2 Gene

ubiquitin associated protein 2

The protein encoded by this g>gg>ene contains a UBA (ubiquitin associated) domain, which is characteristic of proteins that function in the ubiquitination pathway. This g>gg>ene may show increased expression in the adrenal g>gg>land and lymphatic tissues. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Sep 2013]

UBAP1 Gene

ubiquitin associated protein 1

This g>gg>ene is a member of the UBA domain family, whose members include proteins having>gg> connections to ubiquitin and the ubiquitination pathway. The ubiquitin associated domain is thoug>gg>ht to be a non-covalent ubiquitin binding>gg> domain consisting>gg> of a compact three helix bundle. This particular protein orig>gg>inates from a g>gg>ene locus in a refined reg>gg>ion on chromosome 9 underg>gg>oing>gg> loss of heterozyg>gg>osity in nasopharyng>gg>eal carcinoma (NPC). Taking>gg> into account its cytog>gg>enetic location, this UBA domain family member is being>gg> studies as a putative targ>gg>et for mutation in nasopharyng>gg>eal carcinomas. Multiple alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jan 2010]

TMEM98 Gene

transmembrane protein 98

This g>gg>ene encodes a transmembrane protein. A missense mutation in this g>gg>ene result in Nanophthalmos 4 (NNO4). Alternatively spliced transcript variants encoding>gg> the same protein have been found for this g>gg>ene. [provided by RefSeq, Sep 2014]

TMEM99 Gene

transmembrane protein 99

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM92 Gene

transmembrane protein 92

Located in nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM91 Gene

transmembrane protein 91

Predicted to act upstream of or within hematopoietic prog>gg>enitor cell differentiation. Predicted to be active in intracellular membrane-bounded org>gg>anelle and membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM97 Gene

transmembrane protein 97

TMEM97 is a conserved integ>gg>ral membrane protein that plays a role in controlling>gg> cellular cholesterol levels (Bartz et al., 2009 [PubMed 19583955]).[supplied by OMIM, Aug>gg> 2009]

TMEM95 Gene

transmembrane protein 95

Involved in fusion of sperm to eg>gg>g>gg> plasma membrane involved in sing>gg>le fertilization. Predicted to be located in cytoplasmic vesicle and sperm plasma membrane. Predicted to be active in acrosomal membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS8P5 Gene

ribosomal protein S8 pseudog>gg>ene 5

RPS8P7 Gene

ribosomal protein S8 pseudog>gg>ene 7

RPS8P6 Gene

ribosomal protein S8 pseudog>gg>ene 6

RPS8P1 Gene

ribosomal protein S8 pseudog>gg>ene 1

RPS8P3 Gene

ribosomal protein S8 pseudog>gg>ene 3

RPS8P9 Gene

ribosomal protein S8 pseudog>gg>ene 9

RPS8P8 Gene

ribosomal protein S8 pseudog>gg>ene 8

POMP Gene

proteasome maturation protein

The protein encoded by this g>gg>ene is a molecular chaperone that binds 20S preproteasome components and is essential for 20S proteasome formation. The 20S proteasome is the proteolytically active component of the 26S proteasome complex. The encoded protein is deg>gg>raded before the maturation of the 20S proteasome is complete. A variant in the 5' UTR of this g>gg>ene has been associated with KLICK syndrome, a rare skin disorder.[provided by RefSeq, Aug>gg> 2010]

PRB2 Gene

proline-rich protein BstNI subfamily 2

This g>gg>ene encodes a member of the heterog>gg>eneous family of basic, proline-rich, human salivary g>gg>lycoproteins. The encoded preproprotein underg>gg>oes proteolytic processing>gg> to g>gg>enerate one or more mature isoforms before secretion from the parotid g>gg>lands. Multiple alleles of this g>gg>ene exhibiting>gg> variations in the leng>gg>th of the tandem repeats, polymorphic cleavag>gg>e sites and polymorphic stop codons have been identified. This g>gg>ene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. [provided by RefSeq, May 2023]

PRB3 Gene

proline-rich protein BstNI subfamily 3

This g>gg>ene encodes a member of the heterog>gg>eneous family of basic, proline-rich, human salivary g>gg>lycoproteins. Multiple alleles of this g>gg>ene exhibiting>gg> variations in the leng>gg>th of the tandem repeats have been identified. The reference g>gg>enome encodes the `Long>gg>` allele. The protein isoforms encoded by this g>gg>ene are recog>gg>nized as the `first line of oral defense` ag>gg>ainst the detrimental effects of polyphenols in the diet and pathog>gg>en infections. This g>gg>ene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. [provided by RefSeq, Nov 2015]

PRB4 Gene

proline-rich protein BstNI subfamily 4

This g>gg>ene encodes a member of the heterog>gg>eneous family of basic, proline-rich, human salivary g>gg>lycoproteins. The encoded preproprotein underg>gg>oes proteolytic processing>gg> to g>gg>enerate one or more mature peptides before secretion from the parotid g>gg>lands. Multiple alleles of this g>gg>ene exhibiting>gg> variations in the leng>gg>th of the tandem repeats have been identified. The reference g>gg>enome encodes the `Small` allele. This g>gg>ene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms that may underg>gg>o similar proteolytic processing>gg>. [provided by RefSeq, Nov 2015]

POMK Gene

protein-O-mannose kinase

This g>gg>ene encodes a protein that may be involved in the presentation of the laminin-binding>gg> O-linked carbohydrate chain of alpha-dystrog>gg>lycan (a-Dg>Gg>), which forms transmembrane linkag>gg>es between the extracellular matrix and the exoskeleton. Some pathog>gg>ens use this O-linked carbohydrate unit for host entry. Loss of function compound heterozyg>gg>ous mutations in this g>gg>ene were found in a human patient affected by the Walker-Warburg>gg> syndrome (WWS) phenotype. Mice lacking>gg> this g>gg>ene contain misplaced neurons (heterotopia) in some reg>gg>ions of the brain, possibly from defects in neuronal mig>gg>ration. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants. [provided by RefSeq, May 2013]

CDKN2AIPNLP1 Gene

CDKN2A interacting>gg> protein N-terminal like pseudog>gg>ene 1

CDKN2AIPNLP2 Gene

CDKN2A interacting>gg> protein N-terminal like pseudog>gg>ene 2

CDKN2AIPNLP3 Gene

CDKN2A interacting>gg> protein N-terminal like pseudog>gg>ene 3

LINC01436 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1436

RPS13 Gene

ribosomal protein S13

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 40S subunit. The protein belong>gg>s to the S15P family of ribosomal proteins. It is located in the cytoplasm. The protein has been shown to bind to the 5.8S rRNA in rat. The g>gg>ene product of the E. coli ortholog>gg> (ribosomal protein S15) functions at early steps in ribosome assembly. This g>gg>ene is co-transcribed with two U14 small nucleolar RNA g>gg>enes, which are located in its third and fifth introns. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

RPS12 Gene

ribosomal protein S12

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 40S subunit. The protein belong>gg>s to the S12E family of ribosomal proteins. It is located in the cytoplasm. Increased expression of this g>gg>ene in colorectal cancers compared to matched normal colonic mucosa has been observed. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

RPS11 Gene

ribosomal protein S11

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a member of the S17P family of ribosomal proteins that is a component of the 40S subunit. This g>gg>ene is co-transcribed with the small nucleolar RNA g>gg>ene U35B, which is located in the third intron. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>hout the g>gg>enome. [provided by RefSeq, Jul 2012]

RPS10 Gene

ribosomal protein S10

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 40S subunit. The protein belong>gg>s to the S10E family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this g>gg>ene in colorectal cancers compared to adjacent normal tissues has been observed, althoug>gg>h no correlation between the level of expression and the severity of the disease has been found. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. Alternate splicing>gg> results in multiple transcript variants that encode the same protein. Naturally occurring>gg> read-throug>gg>h transcription occurs between this locus and the neig>gg>hboring>gg> locus NUDT3 (nudix (nucleoside diphosphate linked moiety X)-type motif 3).[provided by RefSeq, Feb 2011]

RPS17 Gene

ribosomal protein S17

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 40S subunit. The protein belong>gg>s to the S17E family of ribosomal proteins and is located in the cytoplasm. Mutations in this g>gg>ene cause Diamond-Blackfan anemia 4. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Apr 2014]

RPS16 Gene

ribosomal protein S16

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 40S subunit. The protein belong>gg>s to the S9P family of ribosomal proteins. It is located in the cytoplasm. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

RPS15 Gene

ribosomal protein S15

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 40S subunit. The protein belong>gg>s to the S19P family of ribosomal proteins. It is located in the cytoplasm. This g>gg>ene has been found to be activated in various tumors, such as insulinomas, esophag>gg>eal cancers, and colon cancers. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Apr 2015]

RPS14 Gene

ribosomal protein S14

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 40S subunit. The protein belong>gg>s to the S11P family of ribosomal proteins. It is located in the cytoplasm. Transcript variants utilizing>gg> alternative transcription initiation sites have been described in the literature. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. In Chinese hamster ovary cells, mutations in this g>gg>ene can lead to resistance to emetine, a protein synthesis inhibitor. Multiple alternatively spliced transcript variants encoding>gg> the same protein have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

RPS19 Gene

ribosomal protein S19

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 40S subunit. The protein belong>gg>s to the S19E family of ribosomal proteins. It is located in the cytoplasm. Mutations in this g>gg>ene cause Diamond-Blackfan anemia (DBA), a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors, in a subset of patients. This sug>gg>g>gg>ests a possible extra-ribosomal function for this g>gg>ene in erythropoietic differentiation and proliferation, in addition to its ribosomal function. Hig>gg>her expression levels of this g>gg>ene in some primary colon carcinomas compared to matched normal colon tissues has been observed. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

RPS18 Gene

ribosomal protein S18

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 40S subunit. The protein belong>gg>s to the S13P family of ribosomal proteins. It is located in the cytoplasm. The g>gg>ene product of the E. coli ortholog>gg> (ribosomal protein S13) is involved in the binding>gg> of fMet-tRNA, and thus, in the initiation of translation. This g>gg>ene is an ortholog>gg> of mouse Ke3. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

RPL29P14 Gene

ribosomal protein L29 pseudog>gg>ene 14

FLJ41327 Gene

FLJ41327 protein

RPL21P18 Gene

ribosomal protein L21 pseudog>gg>ene 18

RPL21P19 Gene

ribosomal protein L21 pseudog>gg>ene 19

RPL21P10 Gene

ribosomal protein L21 pseudog>gg>ene 10

RPL21P11 Gene

ribosomal protein L21 pseudog>gg>ene 11

RPL21P12 Gene

ribosomal protein L21 pseudog>gg>ene 12

RPL21P13 Gene

ribosomal protein L21 pseudog>gg>ene 13

RPL21P17 Gene

ribosomal protein L21 pseudog>gg>ene 17

RPL29P18 Gene

ribosomal protein L29 pseudog>gg>ene 18

RPL21P54 Gene

ribosomal protein L21 pseudog>gg>ene 54

RPL31P60 Gene

ribosomal protein L31 pseudog>gg>ene 60

RPL31P61 Gene

ribosomal protein L31 pseudog>gg>ene 61

RPL31P62 Gene

ribosomal protein L31 pseudog>gg>ene 62

LOC157740 Gene

uncharacterized protein C8orf9

g>Gg>APVD1 Gene

g>Gg>TPase activating>gg> protein and VPS9 domains 1

Enables g>Gg>TPase activating>gg> protein binding>gg> activity and g>gg>uanyl-nucleotide exchang>gg>e factor activity. Involved in reg>gg>ulation of protein transport. Located in cytosol and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

DMPK Gene

dystrophia myotonica-protein kinase

The protein encoded by this g>gg>ene is a serine-threonine kinase that is closely related to other kinases that interact with members of the Rho family of small g>Gg>TPases. Substrates for this enzyme include myog>gg>enin, the beta-subunit of the L-type calcium channels, and phospholemman. The 3' untranslated reg>gg>ion of this g>gg>ene contains 5-38 copies of a CTg>Gg> trinucleotide repeat. Expansion of this unstable motif to 50-5,000 copies causes myotonic dystrophy type I, which increases in severity with increasing>gg> repeat element copy number. Repeat expansion is associated with condensation of local chromatin structure that disrupts the expression of g>gg>enes in this reg>gg>ion. Several alternatively spliced transcript variants of this g>gg>ene have been described, but the full-leng>gg>th nature of some of these variants has not been determined. [provided by RefSeq, Jul 2016]

LOC724084 Gene

zinc fing>gg>er protein 706 pseudog>gg>ene

LOC724085 Gene

immediate early response 3 interacting>gg> protein 1 pseudog>gg>ene

IFIT5 Gene

interferon-induced protein with tetratricopeptide repeats 5

Enables nucleic acid binding>gg> activity. Involved in defense response to virus; neg>gg>ative reg>gg>ulation of viral g>gg>enome replication; and positive reg>gg>ulation of canonical NF-kappaB sig>gg>nal transduction. Located in several cellular components, including>gg> IkappaB kinase complex; actin cytoskeleton; and ruffle membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

IFIT3 Gene

interferon-induced protein with tetratricopeptide repeats 3

Enables identical protein binding>gg> activity. Involved in antiviral innate immune response; neg>gg>ative reg>gg>ulation of apoptotic process; and neg>gg>ative reg>gg>ulation of cell population proliferation. Located in cytosol and mitochondrion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

IFIT2 Gene

interferon-induced protein with tetratricopeptide repeats 2

Enables RNA binding>gg> activity. Involved in antiviral innate immune response and positive reg>gg>ulation of apoptotic process. Located in endoplasmic reticulum. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

IFIT1 Gene

interferon-induced protein with tetratricopeptide repeats 1

This g>gg>ene encodes a protein containing>gg> tetratricopeptide repeats that was orig>gg>inally identified as induced upon treatment with interferon. The encoded protein may inhibit viral replication and translational initiation. This g>gg>ene is located in a cluster on chromosome 10 with five other closely related g>gg>enes. There is a pseudog>gg>ene for this g>gg>ene on chromosome 13. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed. [provided by RefSeq, Aug>gg> 2012]

LOC541473 Gene

FK506 binding>gg> protein 6, 36kDa pseudog>gg>ene

MAP1LC3P Gene

microtubule-associated protein 1 lig>gg>ht chain 3 pseudog>gg>ene

MAP1LC3A Gene

microtubule-associated protein 1 lig>gg>ht chain 3 alpha

MAP1A and MAP1B are microtubule-associated proteins which mediate the physical interactions between microtubules and components of the cytoskeleton. MAP1A and MAP1B each consist of a heavy chain subunit and multiple lig>gg>ht chain subunits. The protein encoded by this g>gg>ene is one of the lig>gg>ht chain subunits and can associate with either MAP1A or MAP1B. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. The expression of variant 1 is suppressed in many tumor cell lines, sug>gg>g>gg>esting>gg> that may be involved in carcinog>gg>enesis. [provided by RefSeq, Feb 2012]

MAP1LC3C Gene

microtubule-associated protein 1 lig>gg>ht chain 3 g>gg>amma

Autophag>gg>y is a hig>gg>hly reg>gg>ulated bulk deg>gg>radation process that plays an important role in cellular maintenance and development. MAP1LC3C is an ortholog>gg> of the yeast autophag>gg>osome protein Atg>gg>8 (He et al., 2003 [PubMed 12740394]).[supplied by OMIM, Nov 2010]

MAP1LC3B Gene

microtubule-associated protein 1 lig>gg>ht chain 3 beta

The product of this g>gg>ene is a subunit of neuronal microtubule-associated MAP1A and MAP1B proteins, which are involved in microtubule assembly and important for neurog>gg>enesis. Studies on the rat homolog>gg> implicate a role for this g>gg>ene in autophag>gg>y, a process that involves the bulk deg>gg>radation of cytoplasmic component. [provided by RefSeq, Jul 2008]

ZFP28 Gene

ZFP28 zinc fing>gg>er protein

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL21P108 Gene

ribosomal protein L21 pseudog>gg>ene 108

g>Gg>Ig>Gg>YF1 Gene

g>Gg>RB10 interacting>gg> g>Gg>YF protein 1

This g>gg>ene encodes a member of the g>gg>yf family of adaptor proteins. The encoded protein contains a g>gg>yf protein interaction domain. It binds g>gg>rowth factor g>receptorg> bound 10, another adaptor protein that binds activated insulin-like g>gg>rowth factor 1 and insulin g>receptorg>s and reg>gg>ulates g>receptorg> sig>gg>naling>gg>. [provided by RefSeq, Apr 2017]

g>Gg>Ig>Gg>YF2 Gene

g>Gg>RB10 interacting>gg> g>Gg>YF protein 2

This g>gg>ene contains CAg>Gg> trinucleotide repeats and encodes a protein containing>gg> several stretches of polyg>gg>lutamine residues. The encoded protein may be involved in the reg>gg>ulation of tyrosine kinase g>receptorg> sig>gg>naling>gg>. This g>gg>ene is located in a chromosomal reg>gg>ion that was g>gg>enetically linked to Parkinson disease type 11, and mutations in this g>gg>ene were thoug>gg>ht to be causative for this disease. However, more recent studies in different populations have been unable to replicate this association. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, May 2013]

ZNF736P9Y Gene

zinc fing>gg>er protein 736 pseudog>gg>ene 9, Y-linked

LINC00856 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 856

LINC00857 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 857

AUNIP Gene

aurora kinase A and ninein interacting>gg> protein

Enables damag>gg>ed DNA binding>gg> activity. Involved in double-strand break repair via homolog>gg>ous recombination; neg>gg>ative reg>gg>ulation of double-strand break repair via nonhomolog>gg>ous end joining>gg>; and spindle org>gg>anization. Located in centrosome; site of DNA damag>gg>e; and spindle pole. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00852 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 852

LINC00853 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 853

LINC00850 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 850

LINC00851 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 851

LINC00858 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 858

RPS17P11 Gene

ribosomal protein S17 pseudog>gg>ene 11

RPS17P12 Gene

ribosomal protein S17 pseudog>gg>ene 12

RPS17P16 Gene

ribosomal protein S17 pseudog>gg>ene 16

RPL9P21 Gene

ribosomal protein L9 pseudog>gg>ene 21

LOC643562 Gene

Rho g>Gg>TPase activating>gg> protein 21 pseudog>gg>ene

CFAP99 Gene

cilia and flag>gg>ella associated protein 99

Predicted to be located in motile cilium. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LTBP4 Gene

latent transforming>gg> g>gg>rowth factor beta binding>gg> protein 4

The protein encoded by this g>gg>ene binds transforming>gg> g>gg>rowth factor beta (Tg>Gg>FB) as it is secreted and targ>gg>eted to the extracellular matrix. Tg>Gg>FB is biolog>gg>ically latent after secretion and insertion into the extracellular matrix, and sheds Tg>Gg>FB and other proteins upon activation. Defects in this g>gg>ene may be a cause of cutis laxa and severe pulmonary, g>gg>astrointestinal, and urinary abnormalities. Three transcript variants encoding>gg> different isoforms have been found for this g>gg>ene.[provided by RefSeq, May 2010]

LTBP3 Gene

latent transforming>gg> g>gg>rowth factor beta binding>gg> protein 3

The protein encoded by this g>gg>ene forms a complex with transforming>gg> g>gg>rowth factor beta (Tg>Gg>F-beta) proteins and may be involved in their subcellular localization. Activation of this complex requires removal of the encoded binding>gg> protein. This protein also may play a structural role in the extracellular matrix. Three transcript variants encoding>gg> different isoforms have been found for this g>gg>ene.[provided by RefSeq, Jan 2010]

LTBP2 Gene

latent transforming>gg> g>gg>rowth factor beta binding>gg> protein 2

The protein encoded by this g>gg>ene belong>gg>s to the family of latent transforming>gg> g>gg>rowth factor (Tg>Gg>F)-beta binding>gg> proteins (LTBP), which are extracellular matrix proteins with multi-domain structure. This protein is the larg>gg>est member of the LTBP family possessing>gg> unique reg>gg>ions and with most similarity to the fibrillins. It has thus been sug>gg>g>gg>ested that it may have multiple functions: as a member of the Tg>Gg>F-beta latent complex, as a structural component of microfibrils, and a role in cell adhesion. [provided by RefSeq, Jul 2008]

LTBP1 Gene

latent transforming>gg> g>gg>rowth factor beta binding>gg> protein 1

The protein encoded by this g>gg>ene belong>gg>s to the family of latent Tg>Gg>F-beta binding>gg> proteins (LTBPs). The secretion and activation of Tg>Gg>F-betas is reg>gg>ulated by their association with latency-associated proteins and with latent Tg>Gg>F-beta binding>gg> proteins. The product of this g>gg>ene targ>gg>ets latent complexes of transforming>gg> g>gg>rowth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding>gg> different isoforms have been identified. [provided by RefSeq, Jul 2008]

LOC100506562 Gene

protein LLP homolog>gg>

MBD5 Gene

methyl-Cpg>Gg> binding>gg> domain protein 5

This g>gg>ene encodes a member of the methyl-Cpg>Gg>-binding>gg> domain (MBD) family. The MBD consists of about 70 residues and is the minimal reg>gg>ion required for a methyl-Cpg>Gg>-binding>gg> protein binding>gg> specifically to methylated DNA. In addition to the MBD domain, this protein contains a PWWP domain (Pro-Trp-Trp-Pro motif), which consists of 100-150 amino acids and is found in numerous proteins that are involved in cell division, g>gg>rowth and differentiation. Mutations in this g>gg>ene cause an autosomal dominant type of cog>gg>nitive disability. The encoded protein interacts with the polycomb repressive complex PR-DUB which catalyzes the deubiquitination of a lysine residue of histone 2A. Haploinsufficiency of this g>gg>ene is associated with a syndrome involving>gg> microcephaly, intellectual disabilities, severe speech impairment, and seizures. Alternatively spliced transcript variants have been found, but their full-leng>gg>th nature is not determined. [provided by RefSeq, Jul 2017]

MBD4 Gene

methyl-Cpg>Gg> binding>gg> domain protein 4

The protein encoded by this g>gg>ene is a member of a family of nuclear proteins related by the presence of a methyl-Cpg>Gg> binding>gg> domain (MBD). These proteins are capable of binding>gg> specifically to methylated DNA, and some members can also repress transcription from methylated g>gg>ene promoters. This protein contains an MBD domain at the N-terminus that functions both in binding>gg> to methylated DNA and in protein interactions and a C-terminal mismatch-specific g>gg>lycosylase domain that is involved in DNA repair. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Jan 2013]

MBD6 Gene

methyl-Cpg>Gg> binding>gg> domain protein 6

Enables chromatin binding>gg> activity. Located in chromocenter; fibrillar center; and nucleoplasm. Implicated in autism spectrum disorder. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MBD1 Gene

methyl-Cpg>Gg> binding>gg> domain protein 1

The protein encoded by this g>gg>ene is a member of a family of nuclear proteins related by the presence of a methyl-Cpg>Gg> binding>gg> domain (MBD). These proteins are capable of binding>gg> specifically to methylated DNA, and some members can also repress transcription from methylated g>gg>ene promoters. This protein contains multiple domains: MBD at the N-terminus that functions both in binding>gg> to methylated DNA and in protein interactions; several CXXC-type zinc fing>gg>er domains that mediate binding>gg> to non-methylated Cpg>Gg> dinucleotides; transcriptional repression domain (TRD) at the C-terminus that is involved in transcription repression and in protein interactions. Numerous alternatively spliced transcript variants encoding>gg> different isoforms have been noted for this g>gg>ene.[provided by RefSeq, Feb 2011]

MBD3 Gene

methyl-Cpg>Gg> binding>gg> domain protein 3

DNA methylation is the major modification of eukaryotic g>gg>enomes and plays an essential role in mammalian development. This g>gg>ene belong>gg>s to a family of nuclear proteins which are characterized by the presence of a methyl-Cpg>Gg> binding>gg> domain (MBD). The encoded protein is a subunit of the NuRD, a multisubunit complex containing>gg> nucleosome remodeling>gg> and histone deacetylase activities. Unlike the other family members, the encoded protein is not capable of binding>gg> to methylated DNA. The protein mediates the association of metastasis-associated protein 2 with the core histone deacetylase complex. Alternative splicing>gg> results in multiple transcript variants of this g>gg>ene. [provided by RefSeq, Jul 2013]

MBD2 Gene

methyl-Cpg>Gg> binding>gg> domain protein 2

DNA methylation is the major modification of eukaryotic g>gg>enomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-Cpg>Gg> binding>gg> domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding>gg> specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated g>gg>ene promoters. The protein encoded by this g>gg>ene may function as a mediator of the biolog>gg>ical consequences of the methylation sig>gg>nal. It is also reported that the this protein functions as a demethylase to activate transcription, as DNA methylation causes g>gg>ene silencing>gg>. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Feb 2011]

LOC105369282 Gene

putative tripartite motif-containing>gg> protein 64B

LOC440292 Gene

COMM domain-containing>gg> protein 4-like

SLC25A17 Gene

solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17

This g>gg>ene encodes a peroxisomal membrane protein that belong>gg>s to the family of mitochondrial solute carriers. It is expressed in the liver, and is likely involved in transport. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Sep 2013]

ZNF280D Gene

zinc fing>gg>er protein 280D

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF280C Gene

zinc fing>gg>er protein 280C

This g>gg>ene encodes a member of the zinc fing>gg>er domain-containing>gg> protein family. This family member contains multiple Cys2-His2(C2H2)-type zinc fing>gg>er domains, the most common type of zinc fing>gg>er domain that self-folds to form a beta-beta-alpha structure that binds a zinc ion. [provided by RefSeq, Aug>gg> 2011]

ZNF280B Gene

zinc fing>gg>er protein 280B

The protein encoded by this g>gg>ene is a transcription factor that upreg>gg>ulates expression of MDM2, which neg>gg>atively reg>gg>ulates p53 expression. This g>gg>ene is hig>gg>hly expressed in prostate cancer cells, which leads to a reduction in p53 levels and an increase in g>gg>rowth of the cancer cells. Several transcript variants have been found for this g>gg>ene, but only one of them is protein-coding>gg>. [provided by RefSeq, Jan 2015]

ZNF280A Gene

zinc fing>gg>er protein 280A

This g>gg>ene encodes a zinc fing>gg>er protein. The encoded protein contains 4 C2H2-type zinc fing>gg>ers, which are commonly found in transcription factors. A variety of functions may be performed by this type of zinc fing>gg>er protein, including>gg> the binding>gg> of DNA or RNA. [provided by RefSeq, Apr 2014]

LINC01486 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1486

LINC01481 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1481

LINC01488 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1488

STAR Gene

steroidog>gg>enic acute reg>gg>ulatory protein

The protein encoded by this g>gg>ene plays a key role in the acute reg>gg>ulation of steroid hormone synthesis by enhancing>gg> the conversion of cholesterol into preg>gg>nenolone. This protein permits the cleavag>gg>e of cholesterol into preg>gg>nenolone by mediating>gg> the transport of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane. Mutations in this g>gg>ene are a cause of cong>gg>enital lipoid adrenal hyperplasia (CLAH), also called lipoid CAH. A pseudog>gg>ene of this g>gg>ene is located on chromosome 13. [provided by RefSeq, Jul 2008]

TMEM88B Gene

transmembrane protein 88B

Predicted to be involved in neg>gg>ative reg>gg>ulation of canonical Wnt sig>gg>naling>gg> pathway. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC102725118 Gene

proline-rich protein 23D1-like

MRFAP1 Gene

Morf4 family associated protein 1

This g>gg>ene encodes an intracellular protein that interacts with members of the MORF4/MRg>Gg> (mortality factor on chromosome 4/MORF4 related g>gg>ene) family and the tumor suppressor Rb (retinoblastoma protein.) The protein may play a role in senescence, cell g>gg>rowth and immortalization. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jan 2013]

LOC105373658 Gene

putative uncharacterized protein encoded by LINC00269

CLCP1 Gene

Charcot-Leyden crystal protein pseudog>gg>ene 1

RPL13AP25 Gene

ribosomal protein L13a pseudog>gg>ene 25

LINC00469 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 469

LINC00467 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 467

LINC00463 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 463

LINC00462 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 462

LINC00461 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 461

This is an evolutionarily conserved g>gg>ene that produces alternatively spliced long>gg> non-coding>gg> RNAs that may be expressed predominantly in the brain and visual cortex. These transcripts may be involved in tumorig>gg>enesis, as depletion by siRNA suppressed g>gg>lioma cell division. Transcripts may also bind to and reg>gg>ulate the activity of miR-411-5p and arg>gg>onaut 2, thereby altering>gg> the expression of g>gg>enes involved in tumor g>gg>rowth. [provided by RefSeq, Nov 2017]

LINC00460 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 460

TRIM63 Gene

tripartite motif containing>gg> 63, E3 ubiquitin protein lig>gg>ase

This g>gg>ene encodes a member of the RINg>Gg> zinc fing>gg>er protein family found in striated muscle and iris. The product of this g>gg>ene is an E3 ubiquitin lig>gg>ase that localizes to the Z-line and M-line lattices of myofibrils. This protein plays an important role in the atrophy of skeletal and cardiac muscle and is required for the deg>gg>radation of myosin heavy chain proteins, myosin lig>gg>ht chain, myosin binding>gg> protein, and for muscle-type creatine kinase. [provided by RefSeq, Feb 2012]

LOC645853 Gene

apolipoprotein A-I binding>gg> protein pseudog>gg>ene

LOC100996414 Gene

putative uncharacterized protein FLJ92257

MRPS18BP1 Gene

mitochondrial ribosomal protein S18B pseudog>gg>ene 1

MRPS18BP2 Gene

mitochondrial ribosomal protein S18B pseudog>gg>ene 2

CHMP1B2P Gene

charg>gg>ed multivesicular body protein 1B2, pseudog>gg>ene

LOC100422241 Gene

transforming>gg>, acidic coiled-coil containing>gg> protein 3 pseudog>gg>ene

CLCP2 Gene

Charcot-Leyden crystal protein pseudog>gg>ene 2

PPP1R42 Gene

protein phosphatase 1, reg>gg>ulatory subunit 42

The protein encoded by this g>gg>ene can interact with g>gg>amma-tubulin and PP1 phosphatase, a reg>gg>ulator of centrosome separation. The encoded protein is a positive reg>gg>ulator of PP1 phosphatase and thus plays a role in the control of centrosome integ>gg>rity. [provided by RefSeq, Feb 2017]

PARK7 Gene

parkinson protein 7

The product of this g>gg>ene belong>gg>s to the peptidase C56 family of proteins. It acts as a positive reg>gg>ulator of androg>gg>en g>receptorg>-dependent transcription. It may also function as a redox-sensitive chaperone, as a sensor for oxidative stress, and it apparently protects neurons ag>gg>ainst oxidative stress and cell death. Defects in this g>gg>ene are the cause of autosomal recessive early-onset Parkinson disease 7. Two transcript variants encoding>gg> the same protein have been identified for this g>gg>ene. [provided by RefSeq, Jul 2008]

PARK2 Gene

parkin RBR E3 ubiquitin protein lig>gg>ase

The precise function of this g>gg>ene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin lig>gg>ase complex that mediates the targ>gg>eting>gg> of substrate proteins for proteasomal deg>gg>radation. Mutations in this g>gg>ene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Alternative splicing>gg> of this g>gg>ene produces multiple transcript variants encoding>gg> distinct isoforms. Additional splice variants of this g>gg>ene have been described but currently lack transcript support. [provided by RefSeq, Jul 2008]

KIZ Gene

kizuna centrosomal protein

The protein encoded by this g>gg>ene localizes to centrosomes, streng>gg>thening>gg> and stabilizing>gg> the pericentriolar reg>gg>ion prior to spindle formation. The encoded protein usually remains with the mother centrosome after centrosomal duplication. Sevral transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Feb 2013]

RPL21P87 Gene

ribosomal protein L21 pseudog>gg>ene 87

KIN Gene

Kin17 DNA and RNA binding>gg> protein

The protein encoded by this g>gg>ene is a nuclear protein that forms intranuclear foci during>gg> proliferation and is redistributed in the nucleoplasm during>gg> the cell cycle. Short-wave ultraviolet lig>gg>ht provokes the relocalization of the protein, sug>gg>g>gg>esting>gg> its participation in the cellular response to DNA damag>gg>e. Orig>gg>inally selected based on protein-binding>gg> with RecA antibodies, the mouse protein presents a limited similarity with a functional domain of the bacterial RecA protein, a characteristic shared by this human ortholog>gg>. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants. [provided by RefSeq, Jan 2012]

LOC100419154 Gene

ribosomal protein L4 pseudog>gg>ene

TSg>Gg>A10IP Gene

testis specific, 10 interacting>gg> protein

Predicted to be involved in cilium org>gg>anization. Predicted to be located in ciliary basal body. Predicted to be active in photog>receptorg> connecting>gg> cilium. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PPP4R1L Gene

protein phosphatase 4, reg>gg>ulatory subunit 1-like (pseudog>gg>ene)

LOC105370939 Gene

proline-rich protein HaeIII subfamily 1-like

BNIP3P20 Gene

BCL2/adenovirus E1B 19kDa interacting>gg> protein 3 pseudog>gg>ene 20

BNIP3P21 Gene

BCL2/adenovirus E1B 19kDa interacting>gg> protein 3 pseudog>gg>ene 21

BNIP3P22 Gene

BCL2/adenovirus E1B 19kDa interacting>gg> protein 3 pseudog>gg>ene 22

BNIP3P23 Gene

BCL2/adenovirus E1B 19kDa interacting>gg> protein 3 pseudog>gg>ene 23

BNIP3P24 Gene

BCL2/adenovirus E1B 19kDa interacting>gg> protein 3 pseudog>gg>ene 24

BNIP3P25 Gene

BCL2/adenovirus E1B 19kDa interacting>gg> protein 3 pseudog>gg>ene 25

BNIP3P26 Gene

BCL2/adenovirus E1B 19kDa interacting>gg> protein 3 pseudog>gg>ene 26

BNIP3P27 Gene

BCL2/adenovirus E1B 19kDa interacting>gg> protein 3 pseudog>gg>ene 27

BNIP3P29 Gene

BCL2/adenovirus E1B 19kDa interacting>gg> protein 3 pseudog>gg>ene 29

FKBP4P6 Gene

FK506 binding>gg> protein 4, 59kDa pseudog>gg>ene 6

LOC645763 Gene

intersectin 1 (SH3 domain protein) pseudog>gg>ene

LINC01127 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1127

AMBN Gene

ameloblastin (enamel matrix protein)

This g>gg>ene encodes the nonamelog>gg>enin enamel matrix protein ameloblastin. The encoded protein may be important in enamel matrix formation and mineralization. This g>gg>ene is located in the calcium-binding>gg> phosphoprotein g>gg>ene cluster on chromosome 4. Mutations in this g>gg>ene may be associated with dentinog>gg>enesis imperfect and autosomal dominant amylog>gg>enesis imperfect. [provided by RefSeq, Aug>gg> 2011]

MAD2L1BP Gene

MAD2L1 binding>gg> protein

The protein encoded by this g>gg>ene was identified as a binding>gg> protein of the MAD2 mitotic arrest deficient-like 1 (MAD2/MAD2L1). MAD2 is a key component of the spindle checkpoint that delays the onset of anaphase until all the kinetochores are attached to the spindle. This protein may interact with the spindle checkpoint and coordinate cell cycle events in late mitosis. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

DKFZP547J0410 Gene

DKFZP547J0410 protein

LOC100130842 Gene

small integ>gg>ral membrane protein 7 pseudog>gg>ene

LOC100130841 Gene

MDM2 oncog>gg>ene, E3 ubiquitin protein lig>gg>ase pseudog>gg>ene

FLJ46552 Gene

FLJ46552 protein

ERBB2IP Gene

erbb2 interacting>gg> protein

This g>gg>ene is a member of the leucine-rich repeat and PDZ domain (LAP) family. The encoded protein contains 17 leucine-rich repeats and one PDZ domain. It binds to the unphosphorylated form of the ERBB2 protein and reg>gg>ulates ERBB2 function and localization. It has also been shown to affect the Ras sig>gg>naling>gg> pathway by disrupting>gg> Ras-Raf interaction. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Nov 2011]

KRTAP13-6P Gene

keratin associated protein 13-6, pseudog>gg>ene

LOC105369277 Gene

transmembrane protein C16orf54

LOC105372277 Gene

zinc fing>gg>er protein 799-like

LOC105369279 Gene

g>gg>olg>gg>in subfamily A member 6-like protein 2 pseudog>gg>ene

LOC105369278 Gene

putative uncharacterized protein LOC641298

LOC100419542 Gene

ribosomal protein L37 pseudog>gg>ene

LOC100419545 Gene

zinc fing>gg>er protein 35 pseudog>gg>ene

LOC100419548 Gene

ribosomal protein S27a pseudog>gg>ene

LINC01487 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1487

LINC01485 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1485

LINC01482 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1482

LINC01480 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1480

S100A7L2 Gene

S100 calcium binding>gg> protein A7-like 2

This locus is currently categ>gg>orized as a non-transcribed pseudog>gg>ene, but the locus type of this g>gg>ene is unclear since it does contain an intact CDS. This locus lacks evidence indicating>gg> that it is transcribed, and very little of the upstream reg>gg>ions found in other family members are present at this locus. [provided by RefSeq, May 2018]

LINC01138 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1138

LINC01139 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1139

LINC01136 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1136

LINC01137 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1137

LINC01134 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1134

LINC01135 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1135

LINC01132 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1132

LINC01133 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1133

LINC01489 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1489

LOC100288336 Gene

Putative uncharacterized protein ENSP00000383251

MKRN4P Gene

makorin ring>gg> fing>gg>er protein 4, pseudog>gg>ene

Predicted to enable ubiquitin protein lig>gg>ase activity. Predicted to be involved in protein ubiquitination. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00261 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 261

This g>gg>ene produces a long>gg> non-coding>gg> RNA that acts as a neg>gg>ative reg>gg>ulator of cell g>gg>rowth. This transcript may promote differentiation and apoptosis. [provided by RefSeq, Dec 2017]

LINC00260 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 260

LINC00265 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 265

LINC00264 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 264

LINC00269 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 269

LINC00268 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 268

FBXO44 Gene

F-box protein 44

This g>gg>ene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein lig>gg>ase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing>gg> WD-40 domains, Fbls containing>gg> leucine-rich repeats, and Fbxs containing>gg> either different protein-protein interaction modules or no recog>gg>nizable motifs. The protein encoded by this g>gg>ene belong>gg>s to the Fbxs class. It is also a member of the NFB42 (neural F Box 42 kDa) family, similar to F-box only protein 2 and F-box only protein 6. Several alternatively spliced transcript variants encoding>gg> two distinct isoforms have been found for this g>gg>ene. [provided by RefSeq, Feb 2015]

LOC105378119 Gene

protein g>Gg>VQW1-like

MRPL9P1 Gene

mitochondrial ribosomal protein L9 pseudog>gg>ene 1

HCg>Gg>14 Gene

HLA complex g>gg>roup 14 (non-protein coding>gg>)

DAP Gene

death-associated protein

This g>gg>ene encodes a basic, proline-rich, 15-kD protein. The protein acts as a positive mediator of prog>gg>rammed cell death that is induced by interferon-g>gg>amma. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been found for this g>gg>ene. [provided by RefSeq, May 2014]

MRPS22P1 Gene

mitochondrial ribosomal protein S22 pseudog>gg>ene 1

HCg>Gg>17 Gene

HLA complex g>gg>roup 17 (non-protein coding>gg>)

LOC100418688 Gene

N-ethylmaleimide-sensitive factor attachment protein, g>gg>amma pseudog>gg>ene

PPP4C Gene

protein phosphatase 4, catalytic subunit

Enables protein serine/threonine phosphatase activity. Involved in reg>gg>ulation of double-strand break repair via homolog>gg>ous recombination. Located in cytosol; nucleoplasm; and plasma membrane. Part of chromatin and protein phosphatase 4 complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MEg>Gg>3 Gene

maternally expressed 3 (non-protein coding>gg>)

This g>gg>ene is a maternally expressed imprinted g>gg>ene. Multiple alternatively spliced transcript variants have been transcribed from this g>gg>ene and all of them are long>gg> non-coding>gg> RNAs (lncRNAs). This g>gg>ene is expressed in many normal tissues, but its expression is lost in multiple cancer cell lines of various tissue orig>gg>ins. It inhibits tumor cell proliferation in vitro. It also interacts with the tumor suppressor p53, and reg>gg>ulates p53 targ>gg>et g>gg>ene expression. Its deletion enhances ang>gg>iog>gg>enesis in vivo. Many experimental evidences demonstrate that this g>gg>ene is a lncRNA tumor suppressor. [provided by RefSeq, Mar 2012]

MEg>Gg>9 Gene

maternally expressed 9 (non-protein coding>gg>)

MEg>Gg>8 Gene

maternally expressed 8 (non-protein coding>gg>)

This g>gg>ene is located in a cluster of imprinted g>gg>enes on chromosome 14q32.3. It encodes a a non-protein coding>gg> transcript that is preferentially expressed from the maternal allele in skeletal muscle, and appears to be coordinately reg>gg>ulated with other imprinted g>gg>enes in this reg>gg>ion. [provided by RefSeq, Oct 2010]

MAZ Gene

MYC-associated zinc fing>gg>er protein (purine-binding>gg> transcription factor)

Enables DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Involved in several processes, including>gg> reg>gg>ulation of g>gg>ene expression; reg>gg>ulation of sig>gg>nal transduction; and transcription by RNA polymerase II. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS24P7 Gene

ribosomal protein S24 pseudog>gg>ene 7

MAL Gene

mal, T-cell differentiation protein

The protein encoded by this g>gg>ene is a hig>gg>hly hydrophobic integ>gg>ral membrane protein belong>gg>ing>gg> to the MAL family of proteolipids. The protein has been localized to the endoplasmic reticulum of T-cells and is a candidate linker protein in T-cell sig>gg>nal transduction. In addition, this proteolipid is localized in compact myelin of cells in the nervous system and has been implicated in myelin biog>gg>enesis and/or function. The protein plays a role in the formation, stabilization and maintenance of g>gg>lycosphing>gg>olipid-enriched membrane microdomains. Down-reg>gg>ulation of this g>gg>ene has been associated with a variety of human epithelial malig>gg>nancies. Alternative splicing>gg> produces four transcript variants which vary from each other by the presence or absence of alternatively spliced exons 2 and 3. [provided by RefSeq, May 2012]

LOC105378804 Gene

leucine-rich repeat-containing>gg> protein 53

LOC105378803 Gene

leucine-rich repeat-containing>gg> protein 53-like

Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RBM22P6 Gene

RNA binding>gg> motif protein 22 pseudog>gg>ene 6

RBM22P4 Gene

RNA binding>gg> motif protein 22 pseudog>gg>ene 4

RBM22P5 Gene

RNA binding>gg> motif protein 22 pseudog>gg>ene 5

RBM22P2 Gene

RNA binding>gg> motif protein 22 pseudog>gg>ene 2

RBM22P3 Gene

RNA binding>gg> motif protein 22 pseudog>gg>ene 3

RBM22P1 Gene

RNA binding>gg> motif protein 22 pseudog>gg>ene 1

LSP1P3 Gene

lymphocyte-specific protein 1 pseudog>gg>ene 3

LOC645166 Gene

lymphocyte-specific protein 1 pseudog>gg>ene

Bg>Gg>LT3 Gene

beta g>gg>lobin locus transcript 3 (non-protein coding>gg>)

RAB11FIP3 Gene

RAB11 family interacting>gg> protein 3 (class II)

Proteins of the larg>gg>e Rab g>Gg>TPase family (see RAB1A; MIM 179508) have reg>gg>ulatory roles in the formation, targ>gg>eting>gg>, and fusion of intracellular transport vesicles. RAB11FIP3 is one of many proteins that interact with and reg>gg>ulate Rab g>Gg>TPases (Hales et al., 2001 [PubMed 11495908]).[supplied by OMIM, Mar 2008]

RAB11FIP2 Gene

RAB11 family interacting>gg> protein 2 (class I)

Enables protein homodimerization activity and protein kinase binding>gg> activity. Involved in several processes, including>gg> TRAM-dependent toll-like g>receptorg> 4 sig>gg>naling>gg> pathway; phag>gg>ocytosis; and positive reg>gg>ulation of g>Gg>TPase activity. Located in endosome; nucleoplasm; and phag>gg>ocytic cup. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RAB11FIP1 Gene

RAB11 family interacting>gg> protein 1 (class I)

This g>gg>ene encodes one of the Rab11-family interacting>gg> proteins (Rab11-FIPs), which play a role in the Rab-11 mediated recycling>gg> of vesicles. The encoded protein may be involved in endocytic sorting>gg>, trafficking>gg> of proteins including>gg> integ>gg>rin subunits and epidermal g>gg>rowth factor g>receptorg> (Eg>Gg>FR), and transport between the recycling>gg> endosome and the trans-g>Gg>olg>gg>i network. Alternative splicing>gg> results in multiple transcript variants. A pseudog>gg>ene is described on the X chromosome. [provided by RefSeq, Dec 2013]

RAB11FIP5 Gene

RAB11 family interacting>gg> protein 5 (class I)

Enables g>gg>amma-tubulin binding>gg> activity. Involved in cellular response to acidic pH; neg>gg>ative reg>gg>ulation of adiponectin secretion; and reg>gg>ulation of protein localization to cell surface. Located in centriolar satellite and mitochondrial outer membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RAB11FIP4 Gene

RAB11 family interacting>gg> protein 4 (class II)

The protein encoded by this g>gg>ene interacts with RAB11 and is thoug>gg>ht to be involved in bring>gg>ing>gg> recycling>gg> endosome membranes to the cleavag>gg>e furrow in late cytokinesis. Hypoxic conditions can lead to an upreg>gg>ulation of the encoded protein and enhance the metastatic potential of hepatocellular carcinoma. [provided by RefSeq, Oct 2016]

LOC149844 Gene

synaptotag>gg>min binding>gg>, cytoplasmic RNA interacting>gg> protein pseudog>gg>ene

CH507-42P11.6 Gene

putative uncharacterized protein C21orf125

CLIP3 Gene

CAP-g>Gg>LY domain containing>gg> linker protein 3

This g>gg>ene encodes a member of the cytoplasmic linker protein 170 family. Members of this protein family contain a cytoskeleton-associated protein g>gg>lycine-rich domain and mediate the interaction of microtubules with cellular org>gg>anelles. The encoded protein plays a role in T cell apoptosis by facilitating>gg> the association of tubulin and the lipid raft g>gg>ang>gg>lioside g>Gg>D3. The encoded protein also functions as a scaffold protein mediating>gg> membrane localization of phosphorylated protein kinase B. Alternatively spliced transcript variants have been observed for this g>gg>ene. [provided by RefSeq, Dec 2010]

CLIP2 Gene

CAP-g>Gg>LY domain containing>gg> linker protein 2

The protein encoded by this g>gg>ene belong>gg>s to the family of cytoplasmic linker proteins, which have been proposed to mediate the interaction between specific membranous org>gg>anelles and microtubules. This protein was found to associate with both microtubules and an org>gg>anelle called the dendritic lamellar body. This g>gg>ene is hemizyg>gg>ously deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contig>gg>uous g>gg>enes at 7q11.23. Alternative splicing>gg> of this g>gg>ene g>gg>enerates 2 transcript variants. [provided by RefSeq, Jul 2008]

CLIP1 Gene

CAP-g>Gg>LY domain containing>gg> linker protein 1

The protein encoded by this g>gg>ene links endocytic vesicles to microtubules. This g>gg>ene is hig>gg>hly expressed in Reed-Sternberg>gg> cells of Hodg>gg>kin disease. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Oct 2011]

CLIP4 Gene

CAP-g>Gg>LY domain containing>gg> linker protein family, member 4

Predicted to enable microtubule plus-end binding>gg> activity. Predicted to be involved in cytoplasmic microtubule org>gg>anization. Located in intracellular membrane-bounded org>gg>anelle. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CD46 Gene

CD46 molecule, complement reg>gg>ulatory protein

The protein encoded by this g>gg>ene is a type I membrane protein and is a reg>gg>ulatory part of the complement system. The encoded protein has cofactor activity for inactivation of complement components C3b and C4b by serum factor I, which protects the host cell from damag>gg>e by complement. In addition, the encoded protein can act as a g>receptorg> for the Edmonston strain of measles virus, human herpesvirus-6, and type IV pili of pathog>gg>enic Neisseria. Finally, the protein encoded by this g>gg>ene may be involved in the fusion of the spermatozoa with the oocyte during>gg> fertilization. Mutations at this locus have been associated with susceptibility to hemolytic uremic syndrome. Alternatively spliced transcript variants encoding>gg> different isoforms have been described. [provided by RefSeq, Jun 2010]

TMEM261P1 Gene

transmembrane protein 261 pseudog>gg>ene 1

EIF4EBP1P1 Gene

eukaryotic translation initiation factor 4E binding>gg> protein 1 pseudog>gg>ene 1

CETN4P Gene

centrin EF-hand protein 4, pseudog>gg>ene

Centrins are members of the calcium-binding>gg> EF-hand protein superfamily and accumulate in centrosomes. This g>gg>ene has been inactivated by mutation and is nonfunctional in humans. [provided by RefSeq, Oct 2008]

LOC392364 Gene

nuclear pore associated protein 1 pseudog>gg>ene

LOC105373442 Gene

basic proline-rich protein-like

PAK4 Gene

p21 protein (Cdc42/Rac)-activated kinase 4

PAK proteins, a family of serine/threonine p21-activating>gg> kinases, include PAK1, PAK2, PAK3 and PAK4. PAK proteins are critical effectors that link Rho g>Gg>TPases to cytoskeleton reorg>gg>anization and nuclear sig>gg>naling>gg>. They serve as targ>gg>ets for the small g>Gg>TP binding>gg> proteins Cdc42 and Rac and have been implicated in a wide rang>gg>e of biolog>gg>ical activities. PAK4 interacts specifically with the g>Gg>TP-bound form of Cdc42Hs and weakly activates the JNK family of MAP kinases. PAK4 is a mediator of filopodia formation and may play a role in the reorg>gg>anization of the actin cytoskeleton. Multiple alternatively spliced transcript variants encoding>gg> distinct isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

PAK6 Gene

p21 protein (Cdc42/Rac)-activated kinase 6

This g>gg>ene encodes a member of a family of p21-stimulated serine/threonine protein kinases, which contain an amino-terminal Cdc42/Rac interactive binding>gg> (CRIB) domain and a carboxyl-terminal kinase domain. These kinases function in a number of cellular processes, including>gg> cytoskeleton rearrang>gg>ement, apoptosis, and the mitog>gg>en-activated protein (MAP) kinase sig>gg>naling>gg> pathway. The protein encoded by this g>gg>ene interacts with androg>gg>en g>receptorg> (AR) and translocates to the nucleus, where it is involved in transcriptional reg>gg>ulation. Chang>gg>es in expression of this g>gg>ene have been linked to prostate cancer. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Dec 2015]

PAK7 Gene

p21 protein (Cdc42/Rac)-activated kinase 7

The protein encoded by this g>gg>ene is a member of the PAK family of Ser/Thr protein kinases. PAK family members are known to be effectors of Rac/Cdc42 g>Gg>TPases, which have been implicated in the reg>gg>ulation of cytoskeletal dynamics, proliferation, and cell survival sig>gg>naling>gg>. This kinase contains a CDC42/Rac1 interactive binding>gg> (CRIB) motif, and has been shown to bind CDC42 in the presence of g>Gg>TP. This kinase is predominantly expressed in brain. It is capable of promoting>gg> neurite outg>gg>rowth, and thus may play a role in neurite development. This kinase is associated with microtubule networks and induces microtubule stabilization. The subcellular localization of this kinase is tig>gg>htly reg>gg>ulated during>gg> cell cycle prog>gg>ression. Alternatively spliced transcript variants encoding>gg> the same protein have been described. [provided by RefSeq, Jul 2008]

PAK1 Gene

p21 protein (Cdc42/Rac)-activated kinase 1

This g>gg>ene encodes a family member of serine/threonine p21-activating>gg> kinases, known as PAK proteins. These proteins are critical effectors that link Rhog>Gg>TPases to cytoskeleton reorg>gg>anization and nuclear sig>gg>naling>gg>, and they serve as targ>gg>ets for the small g>Gg>TP binding>gg> proteins Cdc42 and Rac. This specific family member reg>gg>ulates cell motility and morpholog>gg>y. Mutations in this g>gg>ene have been associated with macrocephaly, seizures, and speech delay. Overexpression of this g>gg>ene is also reported in many cancer types, and particularly in breast cancer. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Aug>gg> 2020]

PAK2 Gene

p21 protein (Cdc42/Rac)-activated kinase 2

The p21 activated kinases (PAK) are critical effectors that link Rho g>Gg>TPases to cytoskeleton reorg>gg>anization and nuclear sig>gg>naling>gg>. The PAK proteins are a family of serine/threonine kinases that serve as targ>gg>ets for the small g>Gg>TP binding>gg> proteins, CDC42 and RAC1, and have been implicated in a wide rang>gg>e of biolog>gg>ical activities. The protein encoded by this g>gg>ene is activated by proteolytic cleavag>gg>e during>gg> caspase-mediated apoptosis, and may play a role in reg>gg>ulating>gg> the apoptotic events in the dying>gg> cell. [provided by RefSeq, Jul 2008]

PAK3 Gene

p21 protein (Cdc42/Rac)-activated kinase 3

The protein encoded by this g>gg>ene is a serine-threonine kinase and forms an activated complex with g>Gg>TP-bound RAS-like (P21), CDC2 and RAC1. This protein may be necessary for dendritic development and for the rapid cytoskeletal reorg>gg>anization in dendritic spines associated with synaptic plasticity. Defects in this g>gg>ene are the cause of a non-syndromic form of X-linked intellectual disability. Alternatively spliced transcript variants encoding>gg> different isoforms have been identified. [provided by RefSeq, Jul 2017]

NUBPL Gene

nucleotide binding>gg> protein-like

This g>gg>ene encodes a member of the Mrp/NBP35 ATP-binding>gg> proteins family. The encoded protein is required for the assembly of the respiratory chain NADH dehydrog>gg>enase (complex I), an olig>gg>omeric enzymatic complex located in the inner mitochondrial membrane. Mutations in this g>gg>ene cause mitochondrial complex I deficiency. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, May 2014]

LOC101928547 Gene

putative uncharacterized protein FLJ92257

LOC100913179 Gene

SRA stem-loop interacting>gg> RNA binding>gg> protein pseudog>gg>ene

LOC100420948 Gene

ADP-ribosylation factor-like 14 effector protein pseudog>gg>ene

NUBP2 Gene

nucleotide binding>gg> protein 2

This g>gg>ene encodes an adenosine triphosphate (ATP) and metal-binding>gg> protein that is required for the assembly of cyotosolic iron-sulfur proteins. The encoded protein functions in a heterotetramer with nucleotide-binding>gg> protein 1 (NUBP1). Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Oct 2013]

NUBP1 Gene

nucleotide binding>gg> protein 1

NUBP1 is a member of the NUBP/MRP subfamily of ATP-binding>gg> proteins (Nakashima et al., 1999 [PubMed 10486206]).[supplied by OMIM, Mar 2008]

g>Gg>AS5 Gene

g>gg>rowth arrest-specific 5 (non-protein coding>gg>)

This g>gg>ene produces a spliced long>gg> non-coding>gg> RNA and is a member of the 5' terminal olig>gg>o-pyrimidine class of g>gg>enes. It is a small nucleolar RNA host g>gg>ene, containing>gg> multiple C/D box snoRNA g>gg>enes in its introns. Part of the secondary RNA structure of the encoded transcript mimics g>gg>lucocorticoid response element (g>Gg>RE) which means it can bind to the DNA binding>gg> domain of the g>gg>lucocorticoid g>receptorg> (nuclear g>receptorg> subfamily 3, g>gg>roup C, member 1). This action blocks the g>gg>lucocorticoid g>receptorg> from being>gg> activated and thereby stops it from reg>gg>ulating>gg> the transcription of its targ>gg>et g>gg>enes. This transcript is also thoug>gg>ht to reg>gg>ulate the transcriptional activity of other g>receptorg>s, such as androg>gg>en, prog>gg>esterone and mineralocorticoid g>receptorg>s, that can bind to its g>Gg>RE mimic reg>gg>ion. Multiple functions have been associated with this transcript, including>gg> cellular g>gg>rowth arrest and apoptosis. It has also been identified as a potential tumor suppressor, with its down-reg>gg>ulation associated with cancer in multiple different tissues. [provided by RefSeq, Mar 2015]

RPL15P14 Gene

ribosomal protein L15 pseudog>gg>ene 14

LOC101929634 Gene

keratin-associated protein 5-1-like

LINC00466 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 466

g>Gg>KAP1 Gene

g>Gg> kinase anchoring>gg> protein 1

This g>gg>ene encodes a protein that is hig>gg>hly similar to the mouse cg>Gg>MP-dependent protein kinase anchoring>gg> protein 42kDa. The mouse protein has been found to localize with the g>Gg>olg>gg>i and recruit cg>Gg>MP-dependent protein kinase I alpha to the g>Gg>olg>gg>i in mouse testes. It is thoug>gg>ht to play a role in g>gg>erm cell development. Transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Oct 2008]

LOC100420939 Gene

nucleosome assembly protein 1-like 5 pseudog>gg>ene

FYB Gene

FYN binding>gg> protein

The protein encoded by this g>gg>ene is an adapter for the FYN protein and LCP2 sig>gg>naling>gg> cascades in T-cells. The encoded protein is involved in platelet activation and controls the expression of interleukin-2. Three transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2011]

LINC00909 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 909

RPL7P60 Gene

ribosomal protein L7 pseudog>gg>ene 60

RPL7P61 Gene

ribosomal protein L7 pseudog>gg>ene 61

SP140 Gene

SP140 nuclear body protein

This g>gg>ene encodes a member of the SP100 family of proteins, which are share common domains including>gg> an N-terminal homog>gg>eneously staining>gg> reg>gg>ion domain followed by a SP100/autoimmune reg>gg>ulator/NucP41/P75/deformed epidermal autoreg>gg>ulatory factor domain, a plant homeobox zinc fing>gg>er, and a bromodomain. The encoded protein is interferon-inducible and is expressed at hig>gg>h levels in the nuclei of leukocytes. Variants of this g>gg>ene have been associated with multiple sclerosis, Crohn's disease, and chronic lymphocytic leukemia. Alternative splicing>gg> results in multiple variants. [provided by RefSeq, Aug>gg> 2016]

ARHg>Gg>AP8 Gene

Rho g>Gg>TPase activating>gg> protein 8

This g>gg>ene encodes a member of the RHOg>Gg>AP family. g>Gg>AP (g>Gg>TPase-activating>gg>) family proteins participate in sig>gg>naling>gg> pathways that reg>gg>ulate cell processes involved in cytoskeletal chang>gg>es. g>Gg>AP proteins alternate between an active (g>Gg>TP-bound) and inactive (g>Gg>DP-bound) state based on the g>Gg>TP:g>Gg>DP ratio in the cell. This family member is a multidomain protein that functions to promote Erk activation and cell motility. Alternative splicing>gg> results in multiple transcript variants. Read-throug>gg>h transcripts from the upstream proline rich 5, renal (PRR5) g>gg>ene into this g>gg>ene also exist, which led to the orig>gg>inal description of PRR5 and ARHg>Gg>AP8 being>gg> a sing>gg>le g>gg>ene. [provided by RefSeq, Nov 2010]

ARHg>Gg>AP9 Gene

Rho g>Gg>TPase activating>gg> protein 9

This g>gg>ene encodes a member of the Rho-g>Gg>AP family of g>Gg>TPase activating>gg> proteins. The protein has substantial g>Gg>AP activity towards several Rho-family g>Gg>TPases in vitro, converting>gg> them to an inactive g>Gg>DP-bound state. It is implicated in reg>gg>ulating>gg> adhesion of hematopoietic cells to the extracellular matrix. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

ARHg>Gg>AP4 Gene

Rho g>Gg>TPase activating>gg> protein 4

This g>gg>ene encodes a member of the rhog>Gg>AP family of proteins which play a role in the reg>gg>ulation of small g>Gg>TP-binding>gg> proteins belong>gg>ing>gg> to the RAS superfamily. The protein encoded by the ortholog>gg>ous g>gg>ene in rat is localized to the g>Gg>olg>gg>i complex and can redistribute to microtubules. The rat protein stimulates the activity of some Rho g>Gg>TPases in vitro. g>Gg>enomic deletions of this g>gg>ene and a neig>gg>hboring>gg> g>gg>ene have been found in patients with nephrog>gg>enic diabetes insipidus. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Sep 2009]

ARHg>Gg>AP5 Gene

Rho g>Gg>TPase activating>gg> protein 5

Rho g>Gg>TPase activating>gg> protein 5 neg>gg>atively reg>gg>ulates RHO g>Gg>TPases, a family which may mediate cytoskeleton chang>gg>es by stimulating>gg> the hydrolysis of bound g>Gg>TP. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

ARHg>Gg>AP6 Gene

Rho g>Gg>TPase activating>gg> protein 6

This g>gg>ene encodes a member of the rhog>Gg>AP family of proteins which play a role in the reg>gg>ulation of actin polymerization at the plasma membrane during>gg> several cellular processes. This protein is thoug>gg>ht to have two independent functions, one as a g>Gg>TPase-activating>gg> protein with specificity for RhoA, and another as a cytoskeletal protein that promotes actin remodeling>gg>. Multiple alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

ARHg>Gg>AP1 Gene

Rho g>Gg>TPase activating>gg> protein 1

This g>gg>ene encodes a member of a larg>gg>e family of proteins that activate Rho-type g>gg>uanosine triphosphate (g>Gg>TP) metabolizing>gg> enzymes. The encoded protein contains a SRC homolog>gg>y 3 domain and interacts with Bcl-2-associated protein family members. [provided by RefSeq, Aug>gg> 2012]

LOC100130490 Gene

tumor protein p63 reg>gg>ulated 1-like pseudog>gg>ene

MRPL4 Gene

mitochondrial ribosomal protein L4

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein. Sequence analysis identified alternatively spliced variants that encode different protein isoforms. [provided by RefSeq, Jul 2008]

MRPL2 Gene

mitochondrial ribosomal protein L2

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein that belong>gg>s to the EcoL2 ribosomal protein family. A pseudog>gg>ene corresponding>gg> to this g>gg>ene is found on chromosome 12q. Alternative splicing>gg> results in multiple transcript variants encoding>gg> distinct isoforms. [provided by RefSeq, Jul 2014]

MRPL3 Gene

mitochondrial ribosomal protein L3

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein that belong>gg>s to the L3P ribosomal protein family. A pseudog>gg>ene corresponding>gg> to this g>gg>ene is found on chromosome 13q. [provided by RefSeq, Jul 2008]

MRPL1 Gene

mitochondrial ribosomal protein L1

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein that belong>gg>s to the L1 ribosomal protein family. [provided by RefSeq, Jul 2008]

MRPL9 Gene

mitochondrial ribosomal protein L9

This is a nuclear g>gg>ene encoding>gg> a protein component of the 39S subunit of the mitochondrial ribosome. Alternative splicing>gg> results in multiple transcript variants. A pseudog>gg>ene of this g>gg>ene is found on chromosome 8. [provided by RefSeq, Jul 2014]

WBP1LP2 Gene

WW domain binding>gg> protein 1-like pseudog>gg>ene 2

LOC100996415 Gene

putative uncharacterized protein LOC388882

LOC100418511 Gene

ribosomal protein SA pseudog>gg>ene

LOC100418512 Gene

ribosomal protein L3 pseudog>gg>ene

COL4A3BP Gene

collag>gg>en, type IV, alpha 3 (g>Gg>oodpasture antig>gg>en) binding>gg> protein

This g>gg>ene encodes a kinase that specifically phosphorylates the N-terminal reg>gg>ion of the non-collag>gg>enous domain of the alpha 3 chain of type IV collag>gg>en, known as the g>Gg>oodpasture antig>gg>en. g>Gg>oodpasture disease is the result of an autoimmune response directed at this antig>gg>en. One isoform of this protein is also involved in ceramide intracellular transport. Three transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

LOC100418515 Gene

ribosomal protein L3 pseudog>gg>ene

LOC100418517 Gene

ribosomal protein SA pseudog>gg>ene

LOC100418518 Gene

ribosomal protein SA pseudog>gg>ene

LOC100418519 Gene

ribosomal protein L3 pseudog>gg>ene

LOC101060067 Gene

40S ribosomal protein S3 pseudog>gg>ene

LOC101060064 Gene

Fanconi anemia-associated protein of 24 kDa pseudog>gg>ene

RPS6KC1 Gene

ribosomal protein S6 kinase, 52kDa, polypeptide 1

Sphing>gg>osine kinase catalyzes the formation of sphing>gg>osine 1 phosphate, a lipid cellular messeng>gg>er. The protein encoded by this g>gg>ene can bind to sphing>gg>osine kinase and to phosphatidylinositol 3-phosphate, sug>gg>g>gg>esting>gg> a role in sphing>gg>osine 1 phophate sig>gg>naling>gg>. The encoded protein can also bind to peroxiredoxin-3 and may help transport it to mitochondria. [provided by RefSeq, Mar 2017]

KRTAP22-1 Gene

keratin associated protein 22-1

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP22-2 Gene

keratin associated protein 22-2

Predicted to be located in intermediate filament. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC01272 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1272

ZNF876P Gene

zinc fing>gg>er protein 876, pseudog>gg>ene

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

EDDM3CP Gene

epididymal protein 3C, pseudog>gg>ene

LINC00205 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 205

APMAP Gene

adipocyte plasma membrane associated protein

Enables arylesterase activity. Predicted to be involved in biosynthetic process. Located in cell surface and membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00654 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 654

LINC00656 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 656

LINC00652 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 652

LINC00658 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 658

LINC00659 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 659

RPS10P30 Gene

ribosomal protein S10 pseudog>gg>ene 30

PRO2214 Gene

uncharacterized protein PRO2214

RPS3AP36 Gene

ribosomal protein S3a pseudog>gg>ene 36

RPS3AP37 Gene

ribosomal protein S3a pseudog>gg>ene 37

RPS3AP34 Gene

ribosomal protein S3a pseudog>gg>ene 34

RPS3AP35 Gene

ribosomal protein S3a pseudog>gg>ene 35

RPS3AP32 Gene

ribosomal protein S3a pseudog>gg>ene 32

RPS3AP33 Gene

ribosomal protein S3a pseudog>gg>ene 33

RPS3AP30 Gene

ribosomal protein S3a pseudog>gg>ene 30

RPS3AP31 Gene

ribosomal protein S3a pseudog>gg>ene 31

RFPL4AP2 Gene

ret fing>gg>er protein-like 4A pseudog>gg>ene 2

RPS3AP39 Gene

ribosomal protein S3a pseudog>gg>ene 39

HSP90AB1 Gene

heat shock protein 90kDa alpha (cytosolic), class B member 1

This g>gg>ene encodes a member of the heat shock protein 90 family; these proteins are involved in sig>gg>nal transduction, protein folding>gg> and deg>gg>radation and morpholog>gg>ical evolution. This g>gg>ene encodes the constitutive form of the cytosolic 90 kDa heat-shock protein and is thoug>gg>ht to play a role in g>gg>astric apoptosis and inflammation. Alternative splicing>gg> results in multiple transcript variants. Pseudog>gg>enes have been identified on multiple chromosomes. [provided by RefSeq, Dec 2012]

LINC01300 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1300

PTP4A1 Gene

protein tyrosine phosphatase type IVA, member 1

This g>gg>ene encodes a member of a small class of prenylated protein tyrosine phosphatases (PTPs), which contain a PTP domain and a characteristic C-terminal prenylation motif. The encoded protein is a cell sig>gg>naling>gg> molecule that plays reg>gg>ulatory roles in a variety of cellular processes, including>gg> cell proliferation and mig>gg>ration. The protein may also be involved in cancer development and metastasis. This tyrosine phosphatase is a nuclear protein, but may associate with plasma membrane by means of its prenylation motif. Pseudog>gg>enes related to this g>gg>ene are located on chromosomes 1, 2, 5, 7, 11 and X. [provided by RefSeq, Jun 2013]

LINC01304 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1304

PTP4A3 Gene

protein tyrosine phosphatase type IVA, member 3

This g>gg>ene encodes a member of the protein-tyrosine phosphatase family. Protein tyrosine phosphatases are cell sig>gg>naling>gg> molecules that play reg>gg>ulatory roles in a variety of cellular processes. Studies of this class of protein tyrosine phosphatase in mice demonstrates that they are prenylated in vivo, sug>gg>g>gg>esting>gg> their association with cell plasma membrane. The encoded protein may enhance cell proliferation, and overexpression of this g>gg>ene has been implicated in tumor metastasis. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2013]

PTP4A2 Gene

protein tyrosine phosphatase type IVA, member 2

The protein encoded by this g>gg>ene belong>gg>s to a small class of the protein tyrosine phosphatase (PTP) family. PTPs are cell sig>gg>naling>gg> molecules that play reg>gg>ulatory roles in a variety of cellular processes. PTPs in this class contain a protein tyrosine phosphatase catalytic domain and a characteristic C-terminal prenylation motif. This PTP has been shown to primarily associate with plasmic and endosomal membrane throug>gg>h its C-terminal prenylation. This PTP was found to interact with the beta-subunit of Rab g>gg>eranylg>gg>eranyltransferase II (beta g>Gg>g>Gg>T II), and thus may function as a reg>gg>ulator of g>Gg>g>Gg>T II activity. Overexpression of this g>gg>ene in mammalian cells conferred a transformed phenotype, which sug>gg>g>gg>ested its role in tumorig>gg>enesis. Alternatively spliced transcript variants have been described. Related pseudog>gg>enes exist on chromosomes 11, 12 and 17. [provided by RefSeq, Aug>gg> 2010]

LINC01309 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1309

LOC100130459 Gene

serine/arg>gg>inine repetitive matrix protein 1-like

ULBP2 Gene

UL16 binding>gg> protein 2

This g>gg>ene encodes a major histocompatibility complex (MHC) class I-related molecule that binds to the NKg>Gg>2D g>receptorg> on natural killer (NK) cells to trig>gg>g>gg>er release of multiple cytokines and chemokines that in turn contribute to the recruitment and activation of NK cells. The encoded protein underg>gg>oes further processing>gg> to g>gg>enerate the mature protein that is either anchored to membrane via a g>gg>lycosylphosphatidylinositol moiety, or secreted. Many malig>gg>nant cells secrete the encoded protein to evade immunosurveillance by NK cells. This g>gg>ene is located in a cluster of multiple MHC class I-related g>gg>enes on chromosome 6. [provided by RefSeq, Jul 2015]

ULBP3 Gene

UL16 binding>gg> protein 3

The protein encoded by this g>gg>ene is one of several related lig>gg>ands of the KLRK1/NKg>Gg>2D g>receptorg>, which is found in primary NK cells. Binding>gg> of these lig>gg>ands to the g>receptorg> activates several sig>gg>nal transduction pathways, including>gg> the JAK2, STAT5, and ERK pathways. The encoded protein is expressed solubly and on the surface of many tumor cells, making>gg> it potentially an important targ>gg>et for therapeutics. [provided by RefSeq, Nov 2015]

ULBP1 Gene

UL16 binding>gg> protein 1

The protein encoded by this g>gg>ene is a lig>gg>and of natural killer g>gg>roup 2, member D (NKg>Gg>2D), an immune system-activating>gg> g>receptorg> on NK cells and T-cells. Binding>gg> of the encoded lig>gg>and to NKg>Gg>2D leads to activation of several sig>gg>nal transduction pathways, including>gg> those of JAK2, STAT5, ERK and PI3K kinase/Akt. Also, in cytomeg>gg>alovirus-infected cells, this lig>gg>and binds the UL16 g>gg>lycoprotein and is prevented from activating>gg> the immune system. Three transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Nov 2015]

RPS4XP5 Gene

ribosomal protein S4X pseudog>gg>ene 5

RBMX2 Gene

RNA binding>gg> motif protein, X-linked 2

Enables RNA binding>gg> activity. Involved in mRNA splicing>gg>, via spliceosome. Located in endoplasmic reticulum; nuclear membrane; and nucleolus. Part of U2-type precatalytic spliceosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TSPY21P Gene

testis specific protein, Y-linked 21, pseudog>gg>ene

LOC100996379 Gene

E3 ubiquitin-protein lig>gg>ase HERC2-like

ZNF137P Gene

zinc fing>gg>er protein 137, pseudog>gg>ene

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

VBP1 Gene

von Hippel-Lindau binding>gg> protein 1

The protein encoded by this g>gg>ene interacts with the Von Hippel-Lindau protein to form an intracellular complex. The encoded protein functions as a chaperone protein, and may play a role in the transport of the Von Hippel-Lindau protein from the perinuclear g>gg>ranules to the nucleus or cytoplasm. Alternative splicing>gg> and the use of alternate transcription start sites results in multiple transcript variants encoding>gg> different protein isoforms. [provided by RefSeq, Jan 2015]

TYRO3P Gene

TYRO3P protein tyrosine kinase pseudog>gg>ene

TTTY2B Gene

testis-specific transcript, Y-linked 2B (non-protein coding>gg>)

TTTY21 Gene

testis-specific transcript, Y-linked 21 (non-protein coding>gg>)

TTTY20 Gene

testis-specific transcript, Y-linked 20 (non-protein coding>gg>)

TTTY23 Gene

testis-specific transcript, Y-linked 23 (non-protein coding>gg>)

TTTY22 Gene

testis-specific transcript, Y-linked 22 (non-protein coding>gg>)

TMEM239 Gene

transmembrane protein 239

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM238 Gene

transmembrane protein 238

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM235 Gene

transmembrane protein 235

Predicted to be located in endoplasmic reticulum and membrane. Predicted to be active in apical plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM234 Gene

transmembrane protein 234

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM237 Gene

transmembrane protein 237

The protein encoded by this g>gg>ene is a tetraspanin protein that is thoug>gg>ht to be involved in WNT sig>gg>naling>gg>. Defects in this g>gg>ene are a cause of Joubert syndrome-14. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jan 2012]

TMEM236 Gene

transmembrane protein 236

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM231 Gene

transmembrane protein 231

This g>gg>ene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this g>gg>ene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this g>gg>ene. [provided by RefSeq, Jan 2013]

TMEM230 Gene

transmembrane protein 230

This g>gg>ene encodes a multi-pass transmembrane protein that belong>gg>s to the TMEM134/TMEM230 protein family. The encoded protein localizes to secretory and recycling>gg> vesicle in the neuron and may be involved in synaptic vesicles trafficking>gg> and recycling>gg>. Mutations in this g>gg>ene may be linked to familial Parkinson's disease. [provided by RefSeq, Mar 2017]

TMEM233 Gene

transmembrane protein 233

Located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM232 Gene

transmembrane protein 232

Predicted to be involved in flag>gg>ellated sperm motility and spermatid cytoplasm removal during>gg> spermiation of flag>gg>ellated sperm. Predicted to act upstream of or within maintenance of protein complex location. Predicted to be located in membrane. Predicted to be active in outer dense fiber. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

WASH1 Gene

WAS protein family homolog>gg> 1

Enables alpha-tubulin binding>gg> activity and ubiquitin protein lig>gg>ase binding>gg> activity. Involved in several processes, including>gg> Arp2/3 complex-mediated actin nucleation; endosomal transport; and positive reg>gg>ulation of pseudopodium assembly. Located in several cellular components, including>gg> endosome; exocyst; and lamellipodium. Part of WASH complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TVP23C Gene

trans-g>gg>olg>gg>i network vesicle protein 23 homolog>gg> C (S. cerevisiae)

Predicted to be involved in protein secretion and vesicle-mediated transport. Predicted to be located in membrane. Predicted to be active in g>Gg>olg>gg>i membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TVP23B Gene

trans-g>gg>olg>gg>i network vesicle protein 23 homolog>gg> B (S. cerevisiae)

Predicted to be involved in protein secretion and vesicle-mediated transport. Predicted to be located in membrane. Predicted to be active in g>Gg>olg>gg>i membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TVP23A Gene

trans-g>gg>olg>gg>i network vesicle protein 23 homolog>gg> A (S. cerevisiae)

This g>gg>ene encodes a membrane protein associated with the g>Gg>olg>gg>i apparatus, which plays a crucial role in intracellular vesicular transport. The encoded protein is likely associated with the late (trans) g>Gg>olg>gg>i compartments, which are involved in the delivery of secretory and membrane proteins to the endosome, lysosome or the plasma membrane. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jan 2016]

RPL23AP12 Gene

ribosomal protein L23a pseudog>gg>ene 12

RPS26P8 Gene

ribosomal protein S26 pseudog>gg>ene 8

RPS26P9 Gene

ribosomal protein S26 pseudog>gg>ene 9

TAB3 Gene

Tg>Gg>F-beta activated kinase 1/MAP3K7 binding>gg> protein 3

The product of this g>gg>ene functions in the NF-kappaB sig>gg>nal transduction pathway. The encoded protein, and the similar and functionally redundant protein MAP3K7IP2/TAB2, forms a ternary complex with the protein kinase MAP3K7/TAK1 and either TRAF2 or TRAF6 in response to stimulation with the pro-inflammatory cytokines TNF or IL-1. Subsequent MAP3K7/TAK1 kinase activity trig>gg>g>gg>ers a sig>gg>naling>gg> cascade leading>gg> to activation of the NF-kappaB transcription factor. The human g>gg>enome contains a related pseudog>gg>ene. Alternatively spliced transcript variants have been described, but their biolog>gg>ical validity has not been determined. [provided by RefSeq, Jul 2008]

TAB2 Gene

Tg>Gg>F-beta activated kinase 1/MAP3K7 binding>gg> protein 2

The protein encoded by this g>gg>ene is an activator of MAP3K7/TAK1, which is required for for the IL-1 induced activation of nuclear factor kappaB and MAPK8/JNK. This protein forms a kinase complex with TRAF6, MAP3K7 and TAB1, and it thus serves as an adaptor that links MAP3K7 and TRAF6. This protein, along>gg> with TAB1 and MAP3K7, also participates in the sig>gg>nal transduction induced by TNFSF11/RANKl throug>gg>h the activation of the g>receptorg> activator of NF-kappaB (TNFRSF11A/RANK), which may reg>gg>ulate the development and function of osteoclasts. Studies of the related mouse protein indicate that it functions to protect ag>gg>ainst liver damag>gg>e caused by chemical stressors. Mutations in this g>gg>ene cause cong>gg>enital heart defects, multiple types, 2 (CHTD2). Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, May 2014]

TAB1 Gene

Tg>Gg>F-beta activated kinase 1/MAP3K7 binding>gg> protein 1

The protein encoded by this g>gg>ene was identified as a reg>gg>ulator of the MAP kinase kinase kinase MAP3K7/TAK1, which is known to mediate various intracellular sig>gg>naling>gg> pathways, such as those induced by Tg>Gg>F beta, interleukin 1, and WNT-1. This protein interacts and thus activates TAK1 kinase. It has been shown that the C-terminal portion of this protein is sufficient for binding>gg> and activation of TAK1, while a portion of the N-terminus acts as a dominant-neg>gg>ative inhibitor of Tg>Gg>F beta, sug>gg>g>gg>esting>gg> that this protein may function as a mediator between Tg>Gg>F beta g>receptorg>s and TAK1. This protein can also interact with and activate the mitog>gg>en-activated protein kinase 14 (MAPK14/p38alpha), and thus represents an alternative activation pathway, in addition to the MAPKK pathways, which contributes to the biolog>gg>ical responses of MAPK14 to various stimuli. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

RPS26P1 Gene

ribosomal protein S26 pseudog>gg>ene 1

RPS26P6 Gene

ribosomal protein S26 pseudog>gg>ene 6

RPS26P7 Gene

ribosomal protein S26 pseudog>gg>ene 7

RPS26P4 Gene

ribosomal protein S26 pseudog>gg>ene 4

RPS26P5 Gene

ribosomal protein S26 pseudog>gg>ene 5

RPL32P29 Gene

ribosomal protein L32 pseudog>gg>ene 29

HYDIN2 Gene

HYDIN2, axonemal central pair apparatus protein (pseudog>gg>ene)

MRPS5P3 Gene

mitochondrial ribosomal protein S5 pseudog>gg>ene 3

MRPS5P4 Gene

mitochondrial ribosomal protein S5 pseudog>gg>ene 4

LOC100996813 Gene

multidrug>gg> and toxin extrusion protein 2-like

MIB1 Gene

mindbomb E3 ubiquitin protein lig>gg>ase 1

This g>gg>ene encodes a protein containing>gg> multiple ankyrin repeats and RINg>Gg> fing>gg>er domains that functions as an E3 ubiquitin lig>gg>ase. The encoded protein positively reg>gg>ulates Notch sig>gg>naling>gg> by ubiquitinating>gg> the Notch g>receptorg>s, thereby facilitating>gg> their endocytosis. This protein may also promote the ubiquitination and deg>gg>radation of death-associated protein kinase 1 (DAPK1). [provided by RefSeq, Jun 2013]

MIB2 Gene

mindbomb E3 ubiquitin protein lig>gg>ase 2

The protein encoded by this g>gg>ene is an E3 ubiquitin protein lig>gg>ase that mediates ubiquitination of proteins in the Notch sig>gg>naling>gg> pathway. The encoded protein may be a suppressor of melanoma invasion. [provided by RefSeq, Mar 2017]

LOC101060304 Gene

protein phosphatase 1 reg>gg>ulatory subunit 26-like

LOC101929876 Gene

40S ribosomal protein S26

LINC01358 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1358

LINC01356 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1356

NPIPB9 Gene

nuclear pore complex interacting>gg> protein family, member B9

LINC01353 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1353

LINC01351 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1351

RPL23AP15 Gene

ribosomal protein L23a pseudog>gg>ene 15

SNIP1 Gene

Smad nuclear interacting>gg> protein 1

This g>gg>ene encodes a protein that contains a coiled-coil motif and C-terminal forkhead-associated (FHA) domain. The encoded protein functions as a transcriptional coactivator that increases c-Myc activity and inhibits transforming>gg> g>gg>rowth factor beta (Tg>Gg>F-beta) and nuclear factor kappa-B (NF-kB) sig>gg>naling>gg>. The encoded protein also reg>gg>ulates the stability of cyclin D1 mRNA, and may play a role in cell proliferation and cancer prog>gg>ression. Mutations in this g>gg>ene are a cause of psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED). [provided by RefSeq, Mar 2012]

FSBP Gene

fibrinog>gg>en silencer binding>gg> protein

Enables identical protein binding>gg> activity. Located in nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM11 Gene

transmembrane protein 11

Involved in mitochondrion org>gg>anization. Located in mitochondrial inner membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM17 Gene

transmembrane protein 17

Involved in non-motile cilium assembly. Predicted to be located in ciliary membrane. Predicted to be part of MKS complex. Predicted to be active in ciliary transition zone. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM18 Gene

transmembrane protein 18

Predicted to enable DNA binding>gg> activity. Involved in cell mig>gg>ration. Located in nuclear membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM19 Gene

transmembrane protein 19

Predicted to be active in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

DEPTOR Gene

DEP domain containing>gg> MTOR-interacting>gg> protein

Enables phosphatidic acid binding>gg> activity and protein serine/threonine kinase inhibitor activity. Involved in several processes, including>gg> neg>gg>ative reg>gg>ulation of TOR sig>gg>naling>gg>; neg>gg>ative reg>gg>ulation of cell size; and neg>gg>ative reg>gg>ulation of protein kinase activity. Is active in lysosomal membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF639 Gene

zinc fing>gg>er protein 639

This g>gg>ene encodes a member of the Kruppel-like zinc fing>gg>er family of proteins. Amplification and overexpression of this g>gg>ene have been observed in esophag>gg>eal squamous cell carcinoma. The encoded protein has been shown to bind DNA in a sequence-specific manner and may reg>gg>ulate HIV-1 g>gg>ene expression. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Dec 2014]

ZNF638 Gene

zinc fing>gg>er protein 638

The protein encoded by this g>gg>ene is a nucleoplasmic protein. It binds cytidine-rich sequences in double-stranded DNA. This protein has three types of domains: MH1, MH2 (repeated three times) and MH3. It is associated with packag>gg>ing>gg>, transferring>gg>, or processing>gg> transcripts. Multiple alternatively spliced transcript variants have been found for this g>gg>ene, but the biolog>gg>ical validity of some variants has not been determined. [provided by RefSeq, Jul 2008]

MKRN5P Gene

makorin ring>gg> fing>gg>er protein 5, pseudog>gg>ene

RPS2P55 Gene

ribosomal protein S2 pseudog>gg>ene 55

RPS2P54 Gene

ribosomal protein S2 pseudog>gg>ene 54

ZNF630 Gene

zinc fing>gg>er protein 630

This g>gg>ene encodes a protein containing>gg> an N-terminal Kruppel-associated box-containing>gg> (KRAB) domain and 13 Kruppel-type C2H2 zinc fing>gg>er domains. This g>gg>ene resides on an area of chromosome X that has been implicated in nonsyndromic X-linked cog>gg>nitive disability. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Aug>gg> 2013]

LOC100131520 Gene

ribosomal protein L6 pseudog>gg>ene

RPL21P90 Gene

ribosomal protein L21 pseudog>gg>ene 90

RPL21P91 Gene

ribosomal protein L21 pseudog>gg>ene 91

RPL21P92 Gene

ribosomal protein L21 pseudog>gg>ene 92

RPL21P93 Gene

ribosomal protein L21 pseudog>gg>ene 93

RPL21P94 Gene

ribosomal protein L21 pseudog>gg>ene 94

RPL21P96 Gene

ribosomal protein L21 pseudog>gg>ene 96

RPL21P97 Gene

ribosomal protein L21 pseudog>gg>ene 97

RPL21P98 Gene

ribosomal protein L21 pseudog>gg>ene 98

RPL21P99 Gene

ribosomal protein L21 pseudog>gg>ene 99

LINC01478 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1478

LOC100421602 Gene

CDC42 binding>gg> protein kinase beta (DMPK-like) pseudog>gg>ene

LOC100418555 Gene

zinc fing>gg>er protein 70 pseudog>gg>ene

BTRC Gene

beta-transducin repeat containing>gg> E3 ubiquitin protein lig>gg>ase

This g>gg>ene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein lig>gg>ase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing>gg> WD-40 domains, Fbls containing>gg> leucine-rich repeats, and Fbxs containing>gg> either different protein-protein interaction modules or no recog>gg>nizable motifs. The protein encoded by this g>gg>ene belong>gg>s to the Fbws class; in addition to an F-box, this protein contains multiple WD-40 repeats. The encoded protein mediates deg>gg>radation of CD4 via its interaction with HIV-1 Vpu. It has also been shown to ubiquitinate phosphorylated NFKBIA (nuclear factor of kappa lig>gg>ht polypeptide g>gg>ene enhancer in B-cells inhibitor, alpha), targ>gg>eting>gg> it for deg>gg>radation and thus activating>gg> nuclear factor kappa-B. Alternatively spliced transcript variants have been described. A related pseudog>gg>ene exists in chromosome 6. [provided by RefSeq, Mar 2012]

RPS5P1 Gene

ribosomal protein S5 pseudog>gg>ene 1

RPS5P3 Gene

ribosomal protein S5 pseudog>gg>ene 3

RPS5P5 Gene

ribosomal protein S5 pseudog>gg>ene 5

RPS5P6 Gene

ribosomal protein S5 pseudog>gg>ene 6

RPS5P8 Gene

ribosomal protein S5 pseudog>gg>ene 8

LOC389906 Gene

zinc fing>gg>er protein 839 pseudog>gg>ene

LOC105378949 Gene

basic salivary proline-rich protein 2-like

LOC105378948 Gene

skin secretory protein xP2-like

LOC730110 Gene

zinc fing>gg>er protein 492 pseudog>gg>ene

LOC105378947 Gene

proline-rich extensin-like protein EPR1

FARP2 Gene

FERM, Rhog>Gg>EF and pleckstrin domain protein 2

Enables g>gg>uanyl-nucleotide exchang>gg>e factor activity. Acts upstream of or within Rac protein sig>gg>nal transduction and neuron remodeling>gg>. Located in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FARP1 Gene

FERM, Rhog>Gg>EF (ARHg>Gg>EF) and pleckstrin domain protein 1 (chondrocyte-derived)

This g>gg>ene encodes a protein containing>gg> a FERM (4.2, exrin, radixin, moesin) domain, a Dbl homolog>gg>y domain, and two pleckstrin homolog>gg>y domains. These domains are found in g>gg>uanine nucleotide exchang>gg>e factors and proteins that link the cytoskeleton to the cell membrane. The encoded protein functions in neurons to promote dendritic g>gg>rowth. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Nov 2013]

LOC100129497 Gene

valosin containing>gg> protein lysine (K) methyltransferase pseudog>gg>ene

TMEM194B Gene

transmembrane protein 194B

Predicted to be located in nuclear inner membrane. Predicted to be active in nuclear envelope. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SNAP47 Gene

synaptosomal-associated protein, 47kDa

Predicted to enable SNAP g>receptorg> activity and syntaxin binding>gg> activity. Predicted to be involved in synaptic vesicle fusion to presynaptic active zone membrane and synaptic vesicle priming>gg>. Predicted to act upstream of or within long>gg>-term synaptic potentiation. Located in BLOC-1 complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC728587 Gene

zinc fing>gg>er protein 736 pseudog>gg>ene

STXBP1 Gene

syntaxin binding>gg> protein 1

This g>gg>ene encodes a syntaxin-binding>gg> protein. The encoded protein appears to play a role in release of neurotransmitters via reg>gg>ulation of syntaxin, a transmembrane attachment protein g>receptorg>. Mutations in this g>gg>ene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

STXBP3 Gene

syntaxin binding>gg> protein 3

Enables syntaxin binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of calcium ion-dependent exocytosis; neutrophil deg>gg>ranulation; and platelet ag>gg>g>gg>reg>gg>ation. Located in cytosol; plasma membrane; and secretory g>gg>ranule. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

STXBP2 Gene

syntaxin binding>gg> protein 2

This g>gg>ene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking>gg>, control of SNARE (soluble NSF attachment protein g>receptorg>) complex assembly, and the release of cytotoxic g>gg>ranules by natural killer cells. Mutations in this g>gg>ene are associated with familial hemophag>gg>ocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding>gg> different isoforms have been noted for this g>gg>ene. [provided by RefSeq, Jan 2013]

STXBP5 Gene

syntaxin binding>gg> protein 5 (tomosyn)

Syntaxin 1 is a component of the 7S and 20S SNARE complexes which are involved in docking>gg> and fusion of synaptic vesicles with the presynaptic plasma membrane. This g>gg>ene encodes a syntaxin 1 binding>gg> protein. In rat, a similar protein dissociates syntaxin 1 from the Munc18/n-Sec1/rbSec1 complex to form a 10S complex, an intermediate which can be converted to the 7S SNARE complex. Thus this protein is thoug>gg>ht to be involved in neurotransmitter release by stimulating>gg> SNARE complex formation. Alternatively spliced transcript variants encoding>gg> different isoforms have been identified. [provided by RefSeq, Jul 2008]

STXBP4 Gene

syntaxin binding>gg> protein 4

Enables syntaxin binding>gg> activity. Involved in several processes, including>gg> positive reg>gg>ulation of cell cycle g>Gg>1/S phase transition; positive reg>gg>ulation of keratinocyte proliferation; and protein stabilization. Located in extracellular exosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

STXBP6 Gene

syntaxin binding>gg> protein 6 (amisyn)

Enables cadherin binding>gg> activity involved in cell-cell adhesion. Predicted to be involved in neg>gg>ative reg>gg>ulation of exocytosis. Located in adherens junction. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM200A Gene

transmembrane protein 200A

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CCZ1 Gene

CCZ1 vacuolar protein trafficking>gg> and biog>gg>enesis associated homolog>gg> (S. cerevisiae)

Enables g>gg>uanyl-nucleotide exchang>gg>e factor activity. Predicted to be involved in vesicle-mediated transport. Located in intracellular membrane-bounded org>gg>anelle. Part of Mon1-Ccz1 complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>TSCR1 Gene

g>Gg>illes de la Tourette syndrome chromosome reg>gg>ion, candidate 1 (non-protein coding>gg>)

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

HAP1 Gene

hunting>gg>tin-associated protein 1

Hunting>gg>ton's disease (HD), a neurodeg>gg>enerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyg>gg>lutamine tract in the HD protein hunting>gg>tin. This g>gg>ene encodes a protein that interacts with hunting>gg>tin, with two cytoskeletal proteins (dynactin and pericentriolar autoantig>gg>en protein 1), and with a hepatocyte g>gg>rowth factor-reg>gg>ulated tyrosine kinase substrate. The interactions with cytoskeletal proteins and a kinase substrate sug>gg>g>gg>est a role for this protein in vesicular trafficking>gg> or org>gg>anelle transport. Several alternatively spliced transcript variants encoding>gg> different isoforms have been described for this g>gg>ene. [provided by RefSeq, Jul 2008]

RPS13P3 Gene

ribosomal protein S13 pseudog>gg>ene 3

RPL23AP25 Gene

ribosomal protein L23a pseudog>gg>ene 25

RPL23AP24 Gene

ribosomal protein L23a pseudog>gg>ene 24

HAPLN1 Gene

hyaluronan and proteog>gg>lycan link protein 1

Predicted to enable hyaluronic acid binding>gg> activity. Predicted to be an extracellular matrix structural constituent conferring>gg> compression resistance. Predicted to be involved in nervous system development; positive reg>gg>ulation of neuroblast proliferation; and skeletal system development. Located in collag>gg>en-containing>gg> extracellular matrix. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL23AP22 Gene

ribosomal protein L23a pseudog>gg>ene 22

HAPLN3 Gene

hyaluronan and proteog>gg>lycan link protein 3

This g>gg>ene belong>gg>s to the hyaluronan and proteog>gg>lycan binding>gg> link protein g>gg>ene family. The protein encoded by this g>gg>ene may function in hyaluronic acid binding>gg> and cell adhesion. [provided by RefSeq, Jul 2008]

HAPLN2 Gene

hyaluronan and proteog>gg>lycan link protein 2

Predicted to enable hyaluronic acid binding>gg> activity. Predicted to be involved in nervous system development; positive reg>gg>ulation of neuroblast proliferation; and skeletal system development. Predicted to act upstream of or within establishment of blood-nerve barrier and extracellular matrix assembly. Predicted to be located in extracellular matrix. Predicted to be active in extracellular space; perineuronal net; and synapse. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PIN4P1 Gene

protein (peptidylprolyl cis/trans isomerase) NIMA-interacting>gg>, 4 pseudog>gg>ene 1

PRKCI Gene

protein kinase C, iota

This g>gg>ene encodes a member of the protein kinase C (PKC) family of serine/threonine protein kinases. The PKC family comprises at least eig>gg>ht members, which are differentially expressed and are involved in a wide variety of cellular processes. This protein kinase is calcium-independent and phospholipid-dependent. It is not activated by phorbolesters or diacylg>gg>lycerol. This kinase can be recruited to vesicle tubular clusters (VTCs) by direct interaction with the small g>Gg>TPase RAB2, where this kinase phosphorylates g>gg>lyceraldehyde-3-phosphate dehydrog>gg>enase (g>Gg>APD/g>Gg>APDH) and plays a role in microtubule dynamics in the early secretory pathway. This kinase is found to be necessary for BCL-ABL-mediated resistance to drug>gg>-induced apoptosis and therefore protects leukemia cells ag>gg>ainst drug>gg>-induced apoptosis. There is a sing>gg>le exon pseudog>gg>ene mapped on chromosome X. [provided by RefSeq, Jul 2008]

PRKCH Gene

protein kinase C, eta

Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messeng>gg>er diacylg>gg>lycerol. PKC family members phosphorylate a wide variety of protein targ>gg>ets and are known to be involved in diverse cellular sig>gg>naling>gg> pathways. PKC family members also serve as major g>receptorg>s for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this g>gg>ene is one of the PKC family members. It is a calcium-independent and phospholipids-dependent protein kinase. It is predominantly expressed in epithelial tissues and has been shown to reside specifically in the cell nucleus. This protein kinase can reg>gg>ulate keratinocyte differentiation by activating>gg> the MAP kinase MAPK13 (p38delta)-activated protein kinase cascade that targ>gg>ets CCAAT/enhancer-binding>gg> protein alpha (CEBPA). It is also found to mediate the transcription activation of the transg>gg>lutaminase 1 (Tg>Gg>M1) g>gg>ene. Mutations in this g>gg>ene are associated with susceptibility to cerebral infarction. [provided by RefSeq, Sep 2015]

HSA251708 Gene

microtubule-binding>gg> protein-like

PRKCA Gene

protein kinase C, alpha

Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messeng>gg>er diacylg>gg>lycerol. PKC family members phosphorylate a wide variety of protein targ>gg>ets and are known to be involved in diverse cellular sig>gg>naling>gg> pathways. PKC family members also serve as major g>receptorg>s for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this g>gg>ene is one of the PKC family members. This kinase has been reported to play roles in many different cellular processes, such as cell adhesion, cell transformation, cell cycle checkpoint, and cell volume control. Knockout studies in mice sug>gg>g>gg>est that this kinase may be a fundamental reg>gg>ulator of cardiac contractility and Ca(2+) handling>gg> in myocytes. [provided by RefSeq, Jul 2008]

PRKCB Gene

protein kinase C, beta

Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messeng>gg>er diacylg>gg>lycerol. PKC family members phosphorylate a wide variety of protein targ>gg>ets and are known to be involved in diverse cellular sig>gg>naling>gg> pathways. PKC family members also serve as major g>receptorg>s for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this g>gg>ene is one of the PKC family members. This protein kinase has been reported to be involved in many different cellular functions, such as B cell activation, apoptosis induction, endothelial cell proliferation, and intestinal sug>gg>ar absorption. Studies in mice also sug>gg>g>gg>est that this kinase may also reg>gg>ulate neuronal functions and correlate fear-induced conflict behavior after stress. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

PRKCE Gene

protein kinase C, epsilon

Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messeng>gg>er diacylg>gg>lycerol. PKC family members phosphorylate a wide variety of protein targ>gg>ets and are known to be involved in diverse cellular sig>gg>naling>gg> pathways. PKC family members also serve as major g>receptorg>s for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this g>gg>ene is one of the PKC family members. This kinase has been shown to be involved in many different cellular functions, such as neuron channel activation, apoptosis, cardioprotection from ischemia, heat shock response, as well as insulin exocytosis. Knockout studies in mice sug>gg>g>gg>est that this kinase is important for lipopolysaccharide (LPS)-mediated sig>gg>naling>gg> in activated macrophag>gg>es and may also play a role in controlling>gg> anxiety-like behavior. [provided by RefSeq, Jul 2008]

PRKCD Gene

protein kinase C, delta

The protein encoded by this g>gg>ene is a member of the protein kinase C family of serine- and threonine-specific protein kinases. The encoded protein is activated by diacylg>gg>lycerol and is both a tumor suppressor and a positive reg>gg>ulator of cell cycle prog>gg>ression. Also, this protein can positively or neg>gg>atively reg>gg>ulate apoptosis. Defects in this g>gg>ene are a cause of autoimmune lymphoproliferative syndrome. [provided by RefSeq, Aug>gg> 2017]

PRKCg>Gg> Gene

protein kinase C, g>gg>amma

Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messeng>gg>er diacylg>gg>lycerol. PKC family members phosphorylate a wide variety of protein targ>gg>ets and are known to be involved in diverse cellular sig>gg>naling>gg> pathways. PKC also serve as major g>receptorg>s for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play distinct roles in cells. The protein encoded by this g>gg>ene is one of the PKC family members. This protein kinase is expressed solely in the brain and spinal cord and its localization is restricted to neurons. It has been demonstrated that several neuronal functions, including>gg> long>gg> term potentiation (LTP) and long>gg> term depression (LTD), specifically require this kinase. Knockout studies in mice also sug>gg>g>gg>est that this kinase may be involved in neuropathic pain development. Defects in this protein have been associated with neurodeg>gg>enerative disorder spinocerebellar ataxia-14 (SCA14). Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Oct 2015]

PRKCZ Gene

protein kinase C, zeta

Protein kinase C (PKC) zeta is a member of the PKC family of serine/threonine kinases which are involved in a variety of cellular processes such as proliferation, differentiation and secretion. Unlike the classical PKC isoenzymes which are calcium-dependent, PKC zeta exhibits a kinase activity which is independent of calcium and diacylg>gg>lycerol but not of phosphatidylserine. Furthermore, it is insensitive to typical PKC inhibitors and cannot be activated by phorbol ester. Unlike the classical PKC isoenzymes, it has only a sing>gg>le zinc fing>gg>er module. These structural and biochemical properties indicate that the zeta subspecies is related to, but distinct from other isoenzymes of PKC. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Jul 2008]

Sg>Gg>SM2 Gene

small g>Gg> protein sig>gg>naling>gg> modulator 2

The protein encoded by this g>gg>ene is a g>Gg>TPase activator with activity towards RAB32 and RAB33B, which are reg>gg>ulators of membrane trafficking>gg>. The encoded protein inactivates RAB32 and can bind RAB9A-g>Gg>TP, a protein required for RAB32 activation. [provided by RefSeq, Oct 2016]

Sg>Gg>SM1 Gene

small g>Gg> protein sig>gg>naling>gg> modulator 1

Enables g>Gg>TPase activator activity and small g>Gg>TPase binding>gg> activity. Predicted to act upstream of or within positive reg>gg>ulation of transcription by RNA polymerase II. Located in cytoplasmic vesicle membrane and cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PRKCQ Gene

protein kinase C, theta

Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messeng>gg>er diacylg>gg>lycerol. PKC family members phosphorylate a wide variety of protein targ>gg>ets and are known to be involved in diverse cellular sig>gg>naling>gg> pathways. PKC family members also serve as major g>receptorg>s for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role. The protein encoded by this g>gg>ene is one of the PKC family members. It is a calcium-independent and phospholipid-dependent protein kinase. This kinase is important for T-cell activation. It is required for the activation of the transcription factors NF-kappaB and AP-1, and may link the T cell g>receptorg> (TCR) sig>gg>naling>gg> complex to the activation of the transcription factors. [provided by RefSeq, Jul 2008]

MUL1 Gene

mitochondrial E3 ubiquitin protein lig>gg>ase 1

Enables several functions, including>gg> p53 binding>gg> activity; ubiquitin protein lig>gg>ase binding>gg> activity; and ubiquitin-like protein transferase activity. Involved in several processes, including>gg> neg>gg>ative reg>gg>ulation of defense response; positive reg>gg>ulation of protein metabolic process; and reg>gg>ulation of mitochondrion org>gg>anization. Located in several cellular components, including>gg> mitochondrial outer membrane; neuronal cell body; and peroxisome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PHLPP2 Gene

PH domain and leucine rich repeat protein phosphatase 2

Predicted to enable protein serine/threonine phosphatase activity. Predicted to be involved in intracellular sig>gg>nal transduction. Located in several cellular components, including>gg> intercellular bridg>gg>e; mitotic spindle; and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF570 Gene

zinc fing>gg>er protein 570

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF571 Gene

zinc fing>gg>er protein 571

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF572 Gene

zinc fing>gg>er protein 572

Enables identical protein binding>gg> activity. Predicted to be involved in neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II; reg>gg>ulation of cytokine production; and reg>gg>ulation of immune system process. Located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF573 Gene

zinc fing>gg>er protein 573

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF574 Gene

zinc fing>gg>er protein 574

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF575 Gene

zinc fing>gg>er protein 575

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF576 Gene

zinc fing>gg>er protein 576

Predicted to enable DNA-binding>gg> transcription factor activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF577 Gene

zinc fing>gg>er protein 577

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF578 Gene

zinc fing>gg>er protein 578

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in cytoplasm. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF579 Gene

zinc fing>gg>er protein 579

Enables DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and transcription cis-reg>gg>ulatory reg>gg>ion binding>gg> activity. Involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL14 Gene

ribosomal protein L14

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 60S subunit. The protein belong>gg>s to the L14E family of ribosomal proteins. It contains a basic reg>gg>ion-leucine zipper (bZIP)-like domain. The protein is located in the cytoplasm. This g>gg>ene contains a trinucleotide (g>Gg>CT) repeat tract whose leng>gg>th is hig>gg>hly polymorphic; these triplet repeats result in a stretch of alanine residues in the encoded protein. Transcript variants utilizing>gg> alternative polyA sig>gg>nals and alternative 5'-terminal exons exist but all encode the same protein. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

RPL15 Gene

ribosomal protein L15

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a member of the L15E family of ribosomal proteins and a component of the 60S subunit. This g>gg>ene shares sequence similarity with the yeast ribosomal protein YL10 g>gg>ene. Elevated expression of this g>gg>ene has been observed in esophag>gg>eal tumors and g>gg>astric cancer tissues, and deletion of this g>gg>ene has been observed in a Diamond-Blackfan anemia (DBA) patient. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Mar 2017]

RPL17 Gene

ribosomal protein L17

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 60S subunit. The protein belong>gg>s to the L22P family of ribosomal proteins. It is located in the cytoplasm. This g>gg>ene has been referred to as rpL23 because the encoded protein shares amino acid identity with ribosomal protein L23 from Halobacterium marismortui; however, its official symbol is RPL17. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. Alternative splicing>gg> results in multiple transcript variants. Read-throug>gg>h transcription also exists between this g>gg>ene and the neig>gg>hboring>gg> downstream C18orf32 (chromosome 18 open reading>gg> frame 32) g>gg>ene. [provided by RefSeq, Dec 2010]

RPL10 Gene

ribosomal protein L10

This g>gg>ene encodes a ribosomal protein that is a component of the 60S ribosome subunit. The related protein in chicken can bind to c-Jun and can repress c-Jun-mediated transcriptional activation. Some studies have detected an association between variation in this g>gg>ene and autism spectrum disorders, thoug>gg>h others do not detect this relationship. There are multiple pseudog>gg>enes of this g>gg>ene dispersed throug>gg>hout the g>gg>enome. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jan 2015]

RPL11 Gene

ribosomal protein L11

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 60S subunit. The protein belong>gg>s to the L5P family of ribosomal proteins. It is located in the cytoplasm. The protein probably associates with the 5S rRNA. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Dec 2010]

RPL13 Gene

ribosomal protein L13

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 60S subunit. The protein belong>gg>s to the L13E family of ribosomal proteins. It is located in the cytoplasm. This g>gg>ene is expressed at sig>gg>nificantly hig>gg>her levels in benig>gg>n breast lesions than in breast carcinomas. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been found for this g>gg>ene. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2011]

LINC01405 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1405

RPL18 Gene

ribosomal protein L18

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a member of the L18E family of ribosomal proteins that is a component of the 60S subunit. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Jul 2012]

RPL19 Gene

ribosomal protein L19

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 60S subunit. The protein belong>gg>s to the L19E family of ribosomal proteins. It is located in the cytoplasm. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC105376057 Gene

protein FRg>Gg>1B-like

LOC105376056 Gene

putative zinc fing>gg>er protein LOC441666

RPL18AP10 Gene

ribosomal protein L18a pseudog>gg>ene 10

RBM48P1 Gene

RNA binding>gg> motif protein 48 pseudog>gg>ene 1

KRTAP23-1 Gene

keratin associated protein 23-1

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CSRP2BP Gene

CSRP2 binding>gg> protein

CSRP2 is a protein containing>gg> two LIM domains, which are double zinc fing>gg>er motifs found in proteins of diverse function. CSRP2 and some related proteins are thoug>gg>ht to act as protein adapters, bridg>gg>ing>gg> two or more proteins to form a larg>gg>er protein complex. The protein encoded by this g>gg>ene binds to one of the LIM domains of CSRP2 and contains an acetyltransferase domain. Althoug>gg>h the encoded protein has been detected in the cytoplasm, it is predominantly a nuclear protein. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2011]

PPP1R26P3 Gene

protein phosphatase 1, reg>gg>ulatory subunit 26 pseudog>gg>ene 3

RPL18AP13 Gene

ribosomal protein L18a pseudog>gg>ene 13

RPL37P3 Gene

ribosomal protein L37 pseudog>gg>ene 3

RPL37P2 Gene

ribosomal protein L37 pseudog>gg>ene 2

RPL37P1 Gene

ribosomal protein L37 pseudog>gg>ene 1

RPL37P7 Gene

ribosomal protein L37 pseudog>gg>ene 7

RPL37P6 Gene

ribosomal protein L37 pseudog>gg>ene 6

RPL37P5 Gene

ribosomal protein L37 pseudog>gg>ene 5

RPL37P4 Gene

ribosomal protein L37 pseudog>gg>ene 4

PDZK1IP1 Gene

PDZK1 interacting>gg> protein 1

Located in extracellular exosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MBL1P Gene

mannose-binding>gg> lectin (protein A) 1, pseudog>gg>ene

Predicted to enable several functions, including>gg> D-mannose binding>gg> activity; calcium-dependent carbohydrate binding>gg> activity; and protein homodimerization activity. Predicted to be involved in protein homotrimerization. Predicted to act upstream of or within defense response to other org>gg>anism and positive reg>gg>ulation of phag>gg>ocytosis. Predicted to be located in extracellular space. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PCAT19 Gene

prostate cancer associated transcript 19 (non-protein coding>gg>)

PCAT18 Gene

prostate cancer associated transcript 18 (non-protein coding>gg>)

Predicted to be involved in RNA processing>gg>. Predicted to be located in nucleolus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PCAT14 Gene

prostate cancer associated transcript 14 (non-protein coding>gg>)

LOC105379550 Gene

putative uncharacterized protein LOC388882

SFTPA3P Gene

surfactant protein A3, pseudog>gg>ene

RBMY2XP Gene

RNA binding>gg> motif protein, Y-linked, family 2, member X pseudog>gg>ene

RABEP2 Gene

rabaptin, RAB g>Gg>TPase binding>gg> effector protein 2

Predicted to enable g>Gg>TPase activator activity and g>gg>rowth factor activity. Involved in reg>gg>ulation of cilium assembly. Located in cytosol; intracellular membrane-bounded org>gg>anelle; and microtubule org>gg>anizing>gg> center. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RABEP1 Gene

rabaptin, RAB g>Gg>TPase binding>gg> effector protein 1

Enables protein domain specific binding>gg> activity and protein homodimerization activity. Involved in vesicle-mediated transport. Located in endocytic vesicle and endosome. Part of protein-containing>gg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RABEPK Gene

Rab9 effector protein with kelch motifs

Predicted to be involved in g>receptorg>-mediated endocytosis and vesicle docking>gg> involved in exocytosis. Located in intracellular membrane-bounded org>gg>anelle. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC643058 Gene

interferon induced transmembrane protein 3 pseudog>gg>ene

CENPC Gene

centromere protein C

Centromere protein C 1 is a centromere autoantig>gg>en and a component of the inner kinetochore plate. The protein is required for maintaining>gg> proper kinetochore size and a timely transition to anaphase. A putative pseudog>gg>ene exists on chromosome 12. [provided by RefSeq, Jul 2008]

CENPB Gene

centromere protein B, 80kDa

This g>gg>ene product is a hig>gg>hly conserved protein that facilitates centromere formation. It is a DNA-binding>gg> protein that is derived from transposases of the pog>gg>o DNA transposon family. It contains a helix-loop-helix DNA binding>gg> motif at the N-terminus, and a dimerization domain at the C-terminus. The DNA binding>gg> domain recog>gg>nizes and binds a 17-bp sequence (CENP-B box) in the centromeric alpha satellite DNA. This protein is proposed to play an important role in the assembly of specific centromere structures in interphase nuclei and on mitotic chromosomes. It is also considered a major centromere autoantig>gg>en recog>gg>nized by sera from patients with anti-centromere antibodies. [provided by RefSeq, Jul 2008]

CENPA Gene

centromere protein A

Centromeres are the differentiated chromosomal domains that specify the mitotic behavior of chromosomes. This g>gg>ene encodes a centromere protein which contains a histone H3 related histone fold domain that is required for targ>gg>eting>gg> to the centromere. Centromere protein A is proposed to be a component of a modified nucleosome or nucleosome-like structure in which it replaces 1 or both copies of conventional histone H3 in the (H3-H4)2 tetrameric core of the nucleosome particle. The protein is a replication-independent histone that is a member of the histone H3 family. Alternative splicing>gg> results in multiple transcript variants encoding>gg> distinct isoforms. [provided by RefSeq, Nov 2015]

LOC105379471 Gene

putative uncharacterized protein encoded by LINC00612

RPS15AP1 Gene

ribosomal protein S15a pseudog>gg>ene 1

RPS15AP2 Gene

ribosomal protein S15a pseudog>gg>ene 2

RPS15AP3 Gene

ribosomal protein S15a pseudog>gg>ene 3

RPS15AP4 Gene

ribosomal protein S15a pseudog>gg>ene 4

RPS15AP5 Gene

ribosomal protein S15a pseudog>gg>ene 5

RPS15AP6 Gene

ribosomal protein S15a pseudog>gg>ene 6

RNF212B Gene

ring>gg> fing>gg>er protein 212B

Predicted to enable SUMO transferase activity and ubiquitin protein lig>gg>ase activity. Predicted to be involved in chiasma assembly and protein ubiquitination. Predicted to be located in chromosome. Predicted to be active in synaptonemal complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC646103 Gene

TAF11 RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor, 28kDa pseudog>gg>ene

Predicted to enable protein heterodimerization activity. Predicted to contribute to RNA polymerase II g>gg>eneral transcription initiation factor activity. Predicted to be involved in RNA polymerase II preinitiation complex assembly. Predicted to be located in nucleus. Predicted to be part of transcription factor TFIID complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NHLRC1 Gene

NHL repeat containing>gg> E3 ubiquitin protein lig>gg>ase 1

The protein encoded by this g>gg>ene is a sing>gg>le subunit E3 ubiquitin lig>gg>ase. Laforin is polyubiquitinated by the encoded protein. Defects in this intronless g>gg>ene lead to an accumulation of laforin and onset of Lafora disease, also known as prog>gg>ressive myoclonic epilepsy type 2 (EPM2).[provided by RefSeq, Mar 2010]

g>Gg>SE1 Gene

g>Gg>se1 coiled-coil protein

This g>gg>ene encodes a proline-rich protein with coiled coil domains that may be a subunit of a BRAF35-HDAC (BHC) histone deacetylase complex. This g>gg>ene may function as an oncog>gg>ene in breast cancer and enhanced expression of the encoded protein has been observed in breast cancer patients. [provided by RefSeq, May 2017]

CENPP Gene

centromere protein P

CENPP is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targ>gg>ets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic prog>gg>ression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008]

HSPA9P1 Gene

heat shock 70kDa protein 9 pseudog>gg>ene 1

HSPA9P2 Gene

heat shock 70kDa protein 9 pseudog>gg>ene 2

TSPY26P Gene

testis specific protein, Y-linked 26, pseudog>gg>ene

Predicted to enable chromatin binding>gg> activity and histone binding>gg> activity. Predicted to be involved in nucleosome assembly. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100133059 Gene

centromere protein N pseudog>gg>ene

LOC101929242 Gene

S-phase kinase-associated protein 1 pseudog>gg>ene

UBXN8 Gene

UBX domain protein 8

p97 or VCP (valosin-containing>gg> protein) is a versatile ATPase complex, and many cofactors are required for the p97 functional diversity. This g>gg>ene encodes one of the p97 cofactors. This cofactor is a transmembrane protein and localized in the endoplasmic reticulum (ER) membrane. It tethers p97 to the ER membrane via its UBX domain. The association of this cofactor with p97 facilitates efficient ER-associated deg>gg>radation of misfolded proteins. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene.[provided by RefSeq, Aug>gg> 2013]

UBXN4 Gene

UBX domain protein 4

UBXD2 is an integ>gg>ral membrane protein of the endoplasmic reticulum (ER) that binds valosin-containing>gg> protein (VCP; MIM 601023) and promotes ER-associated protein deg>gg>radation (ERAD) (Liang>gg> et al., 2006 [PubMed 16968747]).[supplied by OMIM, Mar 2008]

LOC729086 Gene

vesicular, overexpressed in cancer, prosurvival protein 1 pseudog>gg>ene

UBXN6 Gene

UBX domain protein 6

Involved in ERAD pathway; endosome to lysosome transport via multivesicular body sorting>gg> pathway; and macroautophag>gg>y. Located in bounding>gg> membrane of org>gg>anelle and cytosol. Part of endosome and protein-containing>gg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

UBXN7 Gene

UBX domain protein 7

Enables RNA polymerase II-specific DNA-binding>gg> transcription factor binding>gg> activity; ubiquitin binding>gg> activity; and ubiquitin protein lig>gg>ase binding>gg> activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Located in nucleoplasm. Part of VCP-NPL4-UFD1 AAA ATPase complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

UBXN1 Gene

UBX domain protein 1

Enables several functions, including>gg> enzyme binding>gg> activity; polyubiquitin modification-dependent protein binding>gg> activity; and proteasome reg>gg>ulatory particle binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of protein metabolic process. Located in cytosol; endoplasmic reticulum; and nucleoplasm. Part of VCP-NPL4-UFD1 AAA ATPase complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC102723780 Gene

protein FRg>Gg>1-like

DRAXIN Gene

dorsal inhibitory axon g>gg>uidance protein

Enables molecular adaptor activity. Predicted to be involved in neg>gg>ative reg>gg>ulation of canonical Wnt sig>gg>naling>gg> pathway and nervous system development. Predicted to act upstream of or within neg>gg>ative reg>gg>ulation of axon extension and neg>gg>ative reg>gg>ulation of hippocampal neuron apoptotic process. Predicted to be active in extracellular reg>gg>ion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100294188 Gene

protein FAM136A-like

ANLN Gene

anillin, actin binding>gg> protein

This g>gg>ene encodes an actin-binding>gg> protein that plays a role in cell g>gg>rowth and mig>gg>ration, and in cytokinesis. The encoded protein is thoug>gg>ht to reg>gg>ulate actin cytoskeletal dynamics in podocytes, components of the g>gg>lomerulus. Mutations in this g>gg>ene are associated with focal seg>gg>mental g>gg>lomerulosclerosis 8. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Oct 2014]

SSBP1 Gene

sing>gg>le-stranded DNA binding>gg> protein 1, mitochondrial

SSBP1 is a housekeeping>gg> g>gg>ene involved in mitochondrial biog>gg>enesis (Tiranti et al., 1995 [PubMed 7789991]). It is also a subunit of a sing>gg>le-stranded DNA (ssDNA)-binding>gg> complex involved in the maintenance of g>gg>enome stability (Huang>gg> et al., 2009) [PubMed 19683501].[supplied by OMIM, Feb 2010]

SSBP3 Gene

sing>gg>le stranded DNA binding>gg> protein 3

Predicted to enable sing>gg>le-stranded DNA binding>gg> activity and transcription coactivator activity. Predicted to be involved in positive reg>gg>ulation of transcription by RNA polymerase II. Predicted to act upstream of or within hematopoietic prog>gg>enitor cell differentiation. Predicted to be part of transcription reg>gg>ulator complex. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SSBP2 Gene

sing>gg>le-stranded DNA binding>gg> protein 2

This g>gg>ene encodes a subunit of a protein complex that interacts with sing>gg>le-stranded DNA and is involved in the DNA damag>gg>e response and maintenance of g>gg>enome stability. The encoded protein may also play a role in telomere repair. A variant of this g>gg>ene may be associated with survival in human g>gg>lioblastoma patients. [provided by RefSeq, Sep 2016]

LOC100422441 Gene

heat shock protein 90kDa alpha (cytosolic), class B member 1 pseudog>gg>ene

POg>Gg>LUT1 Gene

protein O-g>gg>lucosyltransferase 1

This g>gg>ene encodes a protein with both O-g>gg>lucosyltransferase and O-xylosyltransferase activity which localizes to the lumen of the endoplasmic reticulum. This protein has a carboxy-terminal KTEL motif which is predicted to function as an endoplasmic reticulum retention sig>gg>nal. This g>gg>ene is an essential reg>gg>ulator of Notch sig>gg>nalling>gg> and likely plays a role in cell fate and tissue formation during>gg> development. It may also play a role in the pathog>gg>enesis of leukemia. Mutations in this g>gg>ene have been associated with the autosomal dominant g>gg>enodermatosis Dowling>gg>-Deg>gg>os disease 4. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Apr 2014]

RBMY2EP Gene

RNA binding>gg> motif protein, Y-linked, family 2, member E pseudog>gg>ene

RPSAP40 Gene

ribosomal protein SA pseudog>gg>ene 40

KNOP1P4 Gene

lysine-rich nucleolar protein 1 pseudog>gg>ene 4

LOC100419639 Gene

ribosomal protein L21 pseudog>gg>ene

RPSAP49 Gene

ribosomal protein SA pseudog>gg>ene 49

ZNF778 Gene

zinc fing>gg>er protein 778

The protein encoded by this g>gg>ene is a member of the krueppel C2H2-type zinc-fing>gg>er protein family, and it contains one KRAB domain and eig>gg>hteen C2H2-type zinc fing>gg>ers. This g>gg>ene is a candidate g>gg>ene for autism and variable cog>gg>nitive impairment in the 16q24.3 microdeletion syndrome. Alternatively spliced transcript variants have been found for this g>gg>ene. [provided by RefSeq, Jan 2011]

AKAP8P1 Gene

A kinase (PRKA) anchor protein 8 pseudog>gg>ene 1

ZNF776 Gene

zinc fing>gg>er protein 776

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF777 Gene

zinc fing>gg>er protein 777

Predicted to enable DNA-binding>gg> transcription factor activity. Involved in neg>gg>ative reg>gg>ulation of DNA-templated transcription; neg>gg>ative reg>gg>ulation of cell population proliferation; and protein heteroolig>gg>omerization. Located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF775 Gene

zinc fing>gg>er protein 775

Predicted to enable DNA-binding>gg> transcription factor activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF772 Gene

zinc fing>gg>er protein 772

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF773 Gene

zinc fing>gg>er protein 773

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF770 Gene

zinc fing>gg>er protein 770

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF771 Gene

zinc fing>gg>er protein 771

Enables sequence-specific double-stranded DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Located in nucleolus and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RBMY3AP Gene

RNA binding>gg> motif protein, Y-linked, family 3, member A pseudog>gg>ene

RNF10P1 Gene

ring>gg> fing>gg>er protein 10 pseudog>gg>ene 1

g>Gg>ZMH Gene

g>gg>ranzyme H (cathepsin g>Gg>-like 2, protein h-CCPX)

This g>gg>ene encodes a member of the peptidase S1 family of serine proteases. Alternative splicing>gg> results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to g>gg>enerate a chymotrypsin-like protease. This protein is reported to be constitutively expressed in the NK (natural killer) cells of the immune system and may play a role in the cytotoxic arm of the innate immune response by inducing>gg> targ>gg>et cell death and by directly cleaving>gg> substrates in pathog>gg>en-infected cells. This g>gg>ene is present in a g>gg>ene cluster with another member of the g>gg>ranzyme subfamily on chromosome 14. [provided by RefSeq, Nov 2015]

PPP2R1A Gene

protein phosphatase 2, reg>gg>ulatory subunit A, alpha

This g>gg>ene encodes a constant reg>gg>ulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the neg>gg>ative control of cell g>gg>rowth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant reg>gg>ulatory subunit, that associates with a variety of reg>gg>ulatory subunits. The constant reg>gg>ulatory subunit A serves as a scaffolding>gg> molecule to coordinate the assembly of the catalytic subunit and a variable reg>gg>ulatory B subunit. This g>gg>ene encodes an alpha isoform of the constant reg>gg>ulatory subunit A. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]

PIK3AP1 Gene

phosphoinositide-3-kinase adaptor protein 1

Predicted to enable phosphatidylinositol 3-kinase reg>gg>ulatory subunit binding>gg> activity and sig>gg>naling>gg> g>receptorg> binding>gg> activity. Predicted to be involved in positive reg>gg>ulation of phosphatidylinositol 3-kinase/protein kinase B sig>gg>nal transduction; reg>gg>ulation of inflammatory response; and reg>gg>ulation of innate immune response. Predicted to be located in membrane. Predicted to be active in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PPP1R11P2 Gene

protein phosphatase 1, reg>gg>ulatory (inhibitor) subunit 11 pseudog>gg>ene 2

PPP1R11P1 Gene

protein phosphatase 1, reg>gg>ulatory (inhibitor) subunit 11 pseudog>gg>ene 1

SMIM10L2A Gene

small integ>gg>ral membrane protein 10 like 2A

This g>gg>ene encodes a hig>gg>hly conserved small protein that contains a conserved motif (DUF4560) and may function as an integ>gg>ral membrane protein. This transcript was also shown to associate with enhancer chromatin and therefore may also function as an RNA to reg>gg>ulate enhancers. [provided by RefSeq, Jan 2017]

RPS10P1 Gene

ribosomal protein S10 pseudog>gg>ene 1

RPS10P3 Gene

ribosomal protein S10 pseudog>gg>ene 3

RPS10P2 Gene

ribosomal protein S10 pseudog>gg>ene 2

RPS10P5 Gene

ribosomal protein S10 pseudog>gg>ene 5

Predicted to enable RNA binding>gg> activity. Predicted to be a structural constituent of ribosome. Predicted to be located in ribosome. Predicted to be part of cytosolic small ribosomal subunit. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS10P4 Gene

ribosomal protein S10 pseudog>gg>ene 4

RPS10P7 Gene

ribosomal protein S10 pseudog>gg>ene 7

RPS10P6 Gene

ribosomal protein S10 pseudog>gg>ene 6

RPS10P9 Gene

ribosomal protein S10 pseudog>gg>ene 9

RPS10P8 Gene

ribosomal protein S10 pseudog>gg>ene 8

RPL39P28 Gene

ribosomal protein L39 pseudog>gg>ene 28

REC114 Gene

REC114 meiotic recombination protein

The protein encoded by this g>gg>ene is ortholog>gg>ous to the mouse meiotic recombination protein REC114, which is involved in DNA double-strand break formation during>gg> meiosis. The encoded protein is conserved in most eukaryotes and was first discovered and characterized in yeast. [provided by RefSeq, Feb 2017]

RPL39P21 Gene

ribosomal protein L39 pseudog>gg>ene 21

IVNS1ABP Gene

influenza virus NS1A binding>gg> protein

Predicted to enable ubiquitin-like lig>gg>ase-substrate adaptor activity. Involved in RNA splicing>gg>; neg>gg>ative reg>gg>ulation of protein ubiquitination; and response to virus. Located in cytosol. Implicated in immunodeficiency 70. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SCIMP Gene

SLP adaptor and CSK interacting>gg> membrane protein

This g>gg>ene encodes a transmembrane adaptor protein that is expressed in antig>gg>en-presenting>gg> cells and is localized in the immunolog>gg>ic synapse. The encoded protein is involved in major histocompatibility complex class II sig>gg>nal transduction and immune synapse formation. Alternatively spliced transcript variants have been found for this g>gg>ene. [provided by RefSeq, Dec 2012]

RPS26P33 Gene

ribosomal protein S26 pseudog>gg>ene 33

LOC100419621 Gene

ribosomal protein L24 pseudog>gg>ene

LOC100419622 Gene

ribosomal protein L37 pseudog>gg>ene

LINC00959 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 959

LINC00958 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 958

LINC00951 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 951

LINC00950 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 950

LINC00957 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 957

LINC00955 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 955

MIP Gene

major intrinsic protein of lens fiber

Major intrinsic protein is a member of the water-transporting>gg> aquaporins as well as the orig>gg>inal member of the MIP family of channel proteins. The function of the fiber cell membrane protein encoded by this g>gg>ene is undetermined, yet this protein is speculated to play a role in intracellular communication. The MIP protein is expressed in the ocular lens and is required for correct lens function. This g>gg>ene has been mapped among>gg> aquaporins AQP2, AQP5, and AQP6, in a potential g>gg>ene cluster at 12q13. [provided by RefSeq, Jul 2008]

LOC100128355 Gene

ribosomal protein S27a pseudog>gg>ene

PHF5CP Gene

PHD fing>gg>er protein 5C pseudog>gg>ene

RLIMP2 Gene

ring>gg> fing>gg>er protein, LIM domain interacting>gg> pseudog>gg>ene 2

RLIMP3 Gene

ring>gg> fing>gg>er protein, LIM domain interacting>gg> pseudog>gg>ene 3

RLIMP1 Gene

ring>gg> fing>gg>er protein, LIM domain interacting>gg> pseudog>gg>ene 1

LOC100129135 Gene

selenocysteine insertion sequence-binding>gg> protein 2-like

LOC100129133 Gene

transmembrane protein 184C pseudog>gg>ene

LOC100129138 Gene

THAP domain containing>gg>, apoptosis associated protein 3 pseudog>gg>ene

LOC100128428 Gene

UBX domain protein 2A pseudog>gg>ene

RPS7P2 Gene

ribosomal protein S7 pseudog>gg>ene 2

RPS7P1 Gene

ribosomal protein S7 pseudog>gg>ene 1

LOC102724868 Gene

translationally-controlled tumor protein pseudog>gg>ene

TIFA Gene

TRAF-interacting>gg> protein with forkhead-associated domain

This g>gg>ene encodes an adapter protein involved in adaptive and innate immunity. This protein includes a forkhead-associated (FHA) domain that specifically binds to phosphorylated serine and threonine residues. In response to bacterial infection, the encoded host cell protein underg>gg>oes an intermolecular interaction between the FHA domain and a phosphorylated threonine that leads to protein olig>gg>omerization and stimulation of the NF-kappa B and other downstream sig>gg>naling>gg> pathways. This protein exhibits reduced expression in hepatocellular carcinoma and may suppress hepatocellular carcinoma prog>gg>ression. This protein may also play a role in the DNA damag>gg>e response. [provided by RefSeq, Jun 2018]

ZNF25 Gene

zinc fing>gg>er protein 25

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF24 Gene

zinc fing>gg>er protein 24

Enables DNA-binding>gg> transcription activator activity, RNA polymerase II-specific; identical protein binding>gg> activity; and sequence-specific DNA binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of DNA-templated transcription and positive reg>gg>ulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF26 Gene

zinc fing>gg>er protein 26

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FAM223B Gene

family with sequence similarity 223, member B (non-protein coding>gg>)

ZNF20 Gene

zinc fing>gg>er protein 20

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF23 Gene

zinc fing>gg>er protein 23

Enables sequence-specific double-stranded DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF22 Gene

zinc fing>gg>er protein 22

Predicted to enable DNA binding>gg> activity. Predicted to be involved in odontog>gg>enesis and reg>gg>ulation of DNA-templated transcription. Located in nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF28 Gene

zinc fing>gg>er protein 28

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100420899 Gene

mitochondrial ribosomal protein S25 pseudog>gg>ene

RNF113B Gene

ring>gg> fing>gg>er protein 113B

Predicted to enable metal ion binding>gg> activity. Predicted to be involved in snoRNA splicing>gg>. Predicted to be part of U2-type spliceosomal complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RNF113A Gene

ring>gg> fing>gg>er protein 113A

This intronless g>gg>ene encodes a protein which contains a C3H1-type zinc fing>gg>er domain and a C3HC4 Ring>gg>-type (Really Interesting>gg> New g>Gg>ene-type) zinc fing>gg>er domain. The Ring>gg>-type zinc fing>gg>er domain is identified in various tumor suppressors, DNA repair g>gg>enes and cytokine g>receptorg>-associated molecules, and is probably involved in mediating>gg> protein-protein interactions. [provided by RefSeq, May 2010]

RANBP9 Gene

RAN binding>gg> protein 9

This g>gg>ene encodes a protein that binds RAN, a small g>Gg>TP binding>gg> protein belong>gg>ing>gg> to the RAS superfamily that is essential for the translocation of RNA and proteins throug>gg>h the nuclear pore complex. The protein encoded by this g>gg>ene has also been shown to interact with several other proteins, including>gg> met proto-oncog>gg>ene, homeodomain interacting>gg> protein kinase 2, androg>gg>en g>receptorg>, and cyclin-dependent kinase 11. [provided by RefSeq, Jul 2008]

RANBP6 Gene

RAN binding>gg> protein 6

Predicted to enable nuclear import sig>gg>nal g>receptorg> activity and nuclear localization sequence binding>gg> activity. Predicted to be involved in protein import into nucleus. Located in mitochondrion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RANBP1 Gene

RAN binding>gg> protein 1

This g>gg>ene encodes a protein that forms a complex with Ras-related nuclear protein (Ran) and metabolizes g>gg>uanoside triphosphate (g>Gg>TP). This complex participates in the reg>gg>ulation of the cell cycle by controlling>gg> transport of proteins and nucleic acids into the nucleus. There are multiple pseudog>gg>enes for this g>gg>ene on chromosomes 9, 12, 17, and X. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2013]

RANBP3 Gene

RAN binding>gg> protein 3

This g>gg>ene encodes a protein with a RanBD1 domain that is found in both the nucleus and cytoplasm. This protein plays a role in nuclear export as part of a heteromeric complex. Alternate transcriptional splice variants, encoding>gg> different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

RANBP2 Gene

RAN binding>gg> protein 2

RAN is a small g>Gg>TP-binding>gg> protein of the RAS superfamily that is associated with the nuclear membrane and is thoug>gg>ht to control a variety of cellular functions throug>gg>h its interactions with other proteins. This g>gg>ene encodes a very larg>gg>e RAN-binding>gg> protein that immunolocalizes to the nuclear pore complex. The protein is a g>gg>iant scaffold and mosaic cyclophilin-related nucleoporin implicated in the Ran-g>Gg>TPase cycle. The encoded protein directly interacts with the E2 enzyme UBC9 and strong>gg>ly enhances SUMO1 transfer from UBC9 to the SUMO1 targ>gg>et SP100. These finding>gg>s place sumoylation at the cytoplasmic filaments of the nuclear pore complex and sug>gg>g>gg>est that, for some substrates, modification and nuclear import are linked events. This g>gg>ene is partially duplicated in a g>gg>ene cluster that lies in a hot spot for recombination on chromosome 2q. [provided by RefSeq, Jul 2008]

TMEM9 Gene

transmembrane protein 9

Involved in intracellular pH reduction; positive reg>gg>ulation of canonical Wnt sig>gg>naling>gg> pathway; and proton-transporting>gg> V-type ATPase complex assembly. Located in bounding>gg> membrane of org>gg>anelle; intercellular bridg>gg>e; and mitotic spindle. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM2 Gene

transmembrane protein 2

This g>gg>ene encodes a type II transmembrane protein that belong>gg>s to the interferon-induced transmembrane (IFITM) protein superfamily. The encoded protein functions as a cell surface hyaluronidase that cleaves extracellular hig>gg>h molecular weig>gg>ht hyaluronan into intermediate size frag>gg>ments before internalization and deg>gg>radation in the lysosome. It also has an interferon-mediated antiviral function in humans throug>gg>h activation of the JAK STAT sig>gg>naling>gg> pathway. The activation of this g>gg>ene by transcription factor SOX4 in breast cancer cells has been shown to mediate the patholog>gg>ical effects of SOX4 on cancer prog>gg>ression. Naturally occurring>gg> mutations in this g>gg>ene are associated with autosomal recessive non-syndromic hearing>gg> loss. [provided by RefSeq, Mar 2017]

TSPO Gene

translocator protein (18kDa)

Present mainly in the mitochondrial compartment of peripheral tissues, the protein encoded by this g>gg>ene interacts with some benzodiazepines and has different affinities than its endog>gg>enous counterpart. The protein is a key factor in the flow of cholesterol into mitochondria to permit the initiation of steroid hormone synthesis. Alternatively spliced transcript variants have been reported; one of the variants lacks an internal exon and is considered non-coding>gg>, and the other variants encode the same protein. [provided by RefSeq, Feb 2012]

TMEM5 Gene

transmembrane protein 5

This g>gg>ene encodes a type II transmembrane protein that is thoug>gg>ht to have g>gg>lycosyltransferase function. Mutations in this g>gg>ene result in cobblestone lissencephaly. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, May 2013]

LOC100630920 Gene

ribosomal protein L10 pseudog>gg>ene

CAPRIN1 Gene

cell cycle associated protein 1

Enables several functions, including>gg> ATP binding>gg> activity; molecular condensate scaffold activity; and sig>gg>naling>gg> adaptor activity. Involved in membraneless org>gg>anelle assembly; positive reg>gg>ulation of stress g>gg>ranule assembly; and reg>gg>ulation of g>gg>ene expression. Located in cell leading>gg> edg>gg>e and cytosol. Is active in intracellular membraneless org>gg>anelle. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RASA4DP Gene

RAS p21 protein activator 4CD, pseudog>gg>ene

LINC00540 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 540

LINC00543 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 543

LINC00544 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 544

LINC00545 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 545

LINC00547 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 547

LINC00548 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 548

LINC00683 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 683

RPL39L Gene

ribosomal protein L39-like

This g>gg>ene encodes a protein sharing>gg> hig>gg>h sequence similarity with ribosomal protein L39. Althoug>gg>h the name of this g>gg>ene has been referred to as 'ribosomal protein L39' in the public databases, its official name is 'ribosomal protein L39-like'. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. [provided by RefSeq, Jul 2008]

LOC93622 Gene

Morf4 family associated protein 1-like 1 pseudog>gg>ene

Involved in reg>gg>ulation of cell cycle. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC102723432 Gene

serine/threonine-protein kinase PAK 2 pseudog>gg>ene

TMEM38A Gene

transmembrane protein 38A

Predicted to enable potassium channel activity. Predicted to be involved in reg>gg>ulation of release of sequestered calcium ion into cytosol. Predicted to act upstream of or within several processes, including>gg> cellular response to caffeine; monoatomic cation transmembrane transport; and reg>gg>ulation of cardiac muscle contraction by reg>gg>ulation of the release of sequestered calcium ion. Located in extracellular exosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM38B Gene

transmembrane protein 38B

This g>gg>ene encodes an intracellular monovalent cation channel that functions in maintenance of intracellular calcium release. Mutations in this g>gg>ene may be associated with autosomal recessive osteog>gg>enesis. [provided by RefSeq, Oct 2012]

RPS12P30 Gene

ribosomal protein S12 pseudog>gg>ene 30

PRRT4 Gene

proline-rich transmembrane protein 4

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PRRT1 Gene

proline-rich transmembrane protein 1

Enables identical protein binding>gg> activity. Predicted to be involved in several processes, including>gg> long>gg>-term synaptic depression; protein localization to cell surface; and reg>gg>ulation of AMPA g>receptorg> activity. Predicted to act upstream of or within several processes, including>gg> learning>gg> or memory; long>gg>-term synaptic potentiation; and synapse org>gg>anization. Predicted to be located in plasma membrane and synaptic vesicle membrane. Predicted to be active in g>gg>lutamaterg>gg>ic synapse and postsynaptic density membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PRRT3 Gene

proline-rich transmembrane protein 3

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PRRT2 Gene

proline-rich transmembrane protein 2

This g>gg>ene encodes a transmembrane protein containing>gg> a proline-rich domain in its N-terminal half. Studies in mice sug>gg>g>gg>est that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stag>gg>es. Mutations in this g>gg>ene are associated with episodic kinesig>gg>enic dyskinesia-1. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jan 2012]

LOC102724135 Gene

g>gg>olg>gg>in subfamily A member 2-like protein 3

RPL21P130 Gene

ribosomal protein L21 pseudog>gg>ene 130

RPL21P131 Gene

ribosomal protein L21 pseudog>gg>ene 131

RPL21P132 Gene

ribosomal protein L21 pseudog>gg>ene 132

RPL21P133 Gene

ribosomal protein L21 pseudog>gg>ene 133

RPL21P134 Gene

ribosomal protein L21 pseudog>gg>ene 134

RPL21P136 Gene

ribosomal protein L21 pseudog>gg>ene 136

CFAP46 Gene

cilia and flag>gg>ella associated protein 46

Predicted to be involved in axoneme assembly. Predicted to be located in axoneme. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FAP Gene

fibroblast activation protein, alpha

The protein encoded by this g>gg>ene is a homodimeric integ>gg>ral membrane g>gg>elatinase belong>gg>ing>gg> to the serine protease family. It is selectively expressed in reactive stromal fibroblasts of epithelial cancers, g>gg>ranulation tissue of healing>gg> wounds, and malig>gg>nant cells of bone and soft tissue sarcomas. This protein is thoug>gg>ht to be involved in the control of fibroblast g>gg>rowth or epithelial-mesenchymal interactions during>gg> development, tissue repair, and epithelial carcinog>gg>enesis. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Apr 2014]

CFAP45 Gene

cilia and flag>gg>ella associated protein 45

Enables AMP binding>gg> activity. Involved in establishment of left/rig>gg>ht asymmetry and flag>gg>ellated sperm motility. Located in 9+2 motile cilium; axonemal microtubule; and nucleoplasm. Implicated in visceral heterotaxy. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CFAP43 Gene

cilia and flag>gg>ella associated protein 43

This g>gg>ene encodes a member of the cilia- and flag>gg>ella-associated protein family. [provided by RefSeq, Sep 2016]

WRBP1 Gene

tryptophan rich basic protein pseudog>gg>ene 1

RSRP1 Gene

arg>gg>inine/serine-rich protein 1

Involved in spliceosomal complex assembly. Located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC138159 Gene

prog>gg>estag>gg>en-associated endometrial protein pseudog>gg>ene

AKAP17BP Gene

A kinase (PRKA) anchor protein 17B, pseudog>gg>ene

LOC100419624 Gene

RAN binding>gg> protein 1 pseudog>gg>ene

CTBP2P8 Gene

C-terminal binding>gg> protein 2 pseudog>gg>ene 8

PCBP2 Gene

poly(rC) binding>gg> protein 2

The protein encoded by this g>gg>ene appears to be multifunctional. Along>gg> with PCBP-1 and hnRNPK, it is one of the major cellular poly(rC)-binding>gg> proteins. The encoded protein contains three K-homolog>gg>ous (KH) domains which may be involved in RNA binding>gg>. Tog>gg>ether with PCBP-1, this protein also functions as a translational coactivator of poliovirus RNA via a sequence-specific interaction with stem-loop IV of the IRES, promoting>gg> poliovirus RNA replication by binding>gg> to its 5'-terminal cloverleaf structure. It has also been implicated in translational control of the 15-lipoxyg>gg>enase mRNA, human papillomavirus type 16 L2 mRNA, and hepatitis A virus RNA. The encoded protein is also sug>gg>g>gg>ested to play a part in formation of a sequence-specific alpha-g>gg>lobin mRNP complex which is associated with alpha-g>gg>lobin mRNA stability. This multiexon structural mRNA is thoug>gg>ht to be retrotransposed to g>gg>enerate PCBP-1, an intronless g>gg>ene with functions similar to that of PCBP2. This g>gg>ene and PCBP-1 have paralog>gg>ous g>gg>enes (PCBP3 and PCBP4) which are thoug>gg>ht to have arisen as a result of duplication events of entire g>gg>enes. This g>gg>ene also has two processed pseudog>gg>enes (PCBP2P1 and PCBP2P2). Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jan 2018]

PCBP3 Gene

poly(rC) binding>gg> protein 3

This g>gg>ene encodes a member of the KH-domain protein subfamily. Proteins of this subfamily, also referred to as alpha-CPs, bind to RNA with a specificity for C-rich pyrimidine reg>gg>ions. Alpha-CPs play important roles in post-transcriptional activities and have different cellular distributions. The protein encoded by this g>gg>ene lacks the nuclear localization sig>gg>nals found in other subfamily members. Alternative splicing>gg> results in multiple transcript variants encoding>gg> distinct isoforms. [provided by RefSeq, Jan 2017]

PCBP1 Gene

poly(rC) binding>gg> protein 1

This intronless g>gg>ene is thoug>gg>ht to have been g>gg>enerated by retrotransposition of a fully processed PCBP-2 mRNA. This g>gg>ene and PCBP-2 have paralog>gg>ues (PCBP3 and PCBP4) which are thoug>gg>ht to have arisen as a result of duplication events of entire g>gg>enes. The protein encoded by this g>gg>ene appears to be multifunctional. It along>gg> with PCBP-2 and hnRNPK corresponds to the major cellular poly(rC)-binding>gg> protein. It contains three K-homolog>gg>ous (KH) domains which may be involved in RNA binding>gg>. This encoded protein tog>gg>ether with PCBP-2 also functions as translational coactivators of poliovirus RNA via a sequence-specific interaction with stem-loop IV of the IRES and promote poliovirus RNA replication by binding>gg> to its 5'-terminal cloverleaf structure. It has also been implicated in translational control of the 15-lipoxyg>gg>enase mRNA, human Papillomavirus type 16 L2 mRNA, and hepatitis A virus RNA. The encoded protein is also sug>gg>g>gg>ested to play a part in formation of a sequence-specific alpha-g>gg>lobin mRNP complex which is associated with alpha-g>gg>lobin mRNA stability. [provided by RefSeq, Jul 2008]

PAK1IP1 Gene

PAK1 interacting>gg> protein 1

Predicted to enable protein kinase inhibitor activity. Involved in reg>gg>ulation of sig>gg>nal transduction by p53 class mediator and ribosomal larg>gg>e subunit biog>gg>enesis. Located in nucleolus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100131233 Gene

AKT interacting>gg> protein pseudog>gg>ene

RFWD2 Gene

ring>gg> fing>gg>er and WD repeat domain 2, E3 ubiquitin protein lig>gg>ase

Enables ubiquitin protein lig>gg>ase activity. Involved in positive reg>gg>ulation of proteasomal ubiquitin-dependent protein catabolic process; proteasome-mediated ubiquitin-dependent protein catabolic process; and response to ionizing>gg> radiation. Part of Cul4A-RINg>Gg> E3 ubiquitin lig>gg>ase complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS20P23 Gene

ribosomal protein S20 pseudog>gg>ene 23

RPS20P27 Gene

ribosomal protein S20 pseudog>gg>ene 27

RPS20P24 Gene

ribosomal protein S20 pseudog>gg>ene 24

RPS20P29 Gene

ribosomal protein S20 pseudog>gg>ene 29

LOC154937 Gene

protein phosphatase 2, reg>gg>ulatory subunit B', epsilon isoform pseudog>gg>ene

ZNF251 Gene

zinc fing>gg>er protein 251

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to act upstream of or within hematopoietic stem cell homeostasis. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF250 Gene

zinc fing>gg>er protein 250

Enables identical protein binding>gg> activity and sequence-specific double-stranded DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF253 Gene

zinc fing>gg>er protein 253

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF254 Gene

zinc fing>gg>er protein 254

Zinc fing>gg>er proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc fing>gg>er domain is a conserved amino acid sequence motif containing>gg> 2 specifically positioned cysteines and 2 histidines that are involved in coordinating>gg> zinc. Kruppel-related proteins form 1 family of zinc fing>gg>er proteins. See ZFP93 (MIM 604749) for additional information on zinc fing>gg>er proteins.[supplied by OMIM, Jul 2002]

ZNF257 Gene

zinc fing>gg>er protein 257

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF256 Gene

zinc fing>gg>er protein 256

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of DNA-templated transcription. Located in nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM183A Gene

transmembrane protein 183A

Predicted to be involved in reg>gg>ulation of protein stability. Predicted to be located in membrane. Predicted to be part of SCF ubiquitin lig>gg>ase complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM183B Gene

transmembrane protein 183B

This locus was thoug>gg>ht to represent a pseudog>gg>ene of chromosome 1 open reading>gg> frame 37 because it is intronless and retains a polyA tail at the 3' end. It does however contain a complete open reading>gg> frame that subsequent research has demonstrated to be transcribed in a limited number of human tissues. The encoded protein may represent a transmembrane protein associated with cell membranes and be involved in cell-cell or cell-environment interactions. [provided by RefSeq, Jul 2010]

RPL34P27 Gene

ribosomal protein L34 pseudog>gg>ene 27

RPL34P26 Gene

ribosomal protein L34 pseudog>gg>ene 26

RPL34P25 Gene

ribosomal protein L34 pseudog>gg>ene 25

RPL34P23 Gene

ribosomal protein L34 pseudog>gg>ene 23

RPL34P22 Gene

ribosomal protein L34 pseudog>gg>ene 22

RPL34P21 Gene

ribosomal protein L34 pseudog>gg>ene 21

RPL34P20 Gene

ribosomal protein L34 pseudog>gg>ene 20

RPL34P29 Gene

ribosomal protein L34 pseudog>gg>ene 29

RPL34P28 Gene

ribosomal protein L34 pseudog>gg>ene 28

RPL5P15 Gene

ribosomal protein L5 pseudog>gg>ene 15

RPL5P14 Gene

ribosomal protein L5 pseudog>gg>ene 14

RPL5P11 Gene

ribosomal protein L5 pseudog>gg>ene 11

RPL5P12 Gene

ribosomal protein L5 pseudog>gg>ene 12

CREB3L3 Gene

cAMP responsive element binding>gg> protein 3-like 3

This g>gg>ene encodes a member of the basic-leucine zipper family and the AMP-dependent transcription factor family. The encoded protein is localized to the endoplasmic reticulum and acts as a transcription factor activated by cyclic AMP stimulation. The encoded protein binds the cyclic AMP response element (CRE) and the box-B element and has been linked to acute inflammatory response, hepatocellular carcinoma, trig>gg>lyceride metabolism, and hepcidin expression. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Dec 2012]

CREB3L1 Gene

cAMP responsive element binding>gg> protein 3-like 1

The protein encoded by this g>gg>ene is normally found in the membrane of the endoplasmic reticulum (ER). However, upon stress to the ER, the encoded protein is cleaved and the released cytoplasmic transcription factor domain translocates to the nucleus. There it activates the transcription of targ>gg>et g>gg>enes by binding>gg> to box-B elements. [provided by RefSeq, Jun 2013]

CREB3L4 Gene

cAMP responsive element binding>gg> protein 3-like 4

This g>gg>ene encodes a CREB (cAMP responsive element binding>gg>) protein with a transmembrane domain which localizes it to the ER membrane. The encoded protein is a transcriptional activator which contains a dimerization domain, and this protein may function in a number of processing>gg> pathways including>gg> protein processing>gg>. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Dec 2011]

HEBP1 Gene

heme binding>gg> protein 1

The full-leng>gg>th protein encoded by this g>gg>ene is an intracellular tetrapyrrole-binding>gg> protein. This protein includes a natural chemoattractant peptide of 21 amino acids at the N-terminus, which is a natural lig>gg>and for formyl peptide g>receptorg>-like g>receptorg> 2 (FPRL2) and promotes calcium mobilization and chemotaxis in monocytes and dendritic cells. [provided by RefSeq, Jul 2008]

HEBP2 Gene

heme binding>gg> protein 2

The protein encoded by this g>gg>ene is found predominately in the cytoplasm, where it plays a role in the collapse of mitochondrial membrane potential (MMP) prior to necrotic cell death. The encoded protein enhances outer and inner mitochondrial membrane permeabilization, especially under conditions of oxidative stress. [provided by RefSeq, May 2016]

MRPL57P7 Gene

mitochondrial ribosomal protein L57 pseudog>gg>ene 7

MRPL57P6 Gene

mitochondrial ribosomal protein L57 pseudog>gg>ene 6

MRPL57P1 Gene

mitochondrial ribosomal protein L57 pseudog>gg>ene 1

MRPL57P3 Gene

mitochondrial ribosomal protein L57 pseudog>gg>ene 3

MRPL57P2 Gene

mitochondrial ribosomal protein L57 pseudog>gg>ene 2

MRPL57P9 Gene

mitochondrial ribosomal protein L57 pseudog>gg>ene 9

MRPL57P8 Gene

mitochondrial ribosomal protein L57 pseudog>gg>ene 8

ATF7IP2 Gene

activating>gg> transcription factor 7 interacting>gg> protein 2

Predicted to enable transcription coreg>gg>ulator activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be part of transcription reg>gg>ulator complex. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100533853 Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudog>gg>ene

LINC00032 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 32

OPCML Gene

opioid binding>gg> protein/cell adhesion molecule-like

This g>gg>ene encodes a member of the Ig>gg>LON subfamily in the immunog>gg>lobulin protein superfamily of proteins. The encoded preprotein is proteolytically processed to g>gg>enerate the mature protein. This protein is localized in the plasma membrane and may have an accessory role in opioid g>receptorg> function. This g>gg>ene has an ortholog>gg> in rat and bovine. The opioid binding>gg>-cell adhesion molecule encoded by the rat g>gg>ene binds opioid alkaloids in the presence of acidic lipids, exhibits selectivity for mu lig>gg>ands and acts as a g>Gg>PI-anchored protein. Since the encoded protein is hig>gg>hly conserved in species during>gg> evolution, it may have a fundamental role in mammalian systems. Alternative splicing>gg> results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]

LOC642574 Gene

IQ motif and ankyrin repeat domain-containing>gg> protein LOC642574

LRR1 Gene

leucine rich repeat protein 1

The protein encoded by this g>gg>ene contains a leucine-rich repeat (LRR). It specifically interacts with TNFRSF9/4-1BB, a member of the tumor necrosis factor g>receptorg> (TNFR) superfamily. Overexpression of this g>gg>ene suppresses the activation of NF-kappa B induced by TNFRSF9 or TNF g>receptorg>-associated factor 2 (TRAF2), which sug>gg>g>gg>ests that this protein is a neg>gg>ative reg>gg>ulator of TNFRSF9-mediated sig>gg>naling>gg> cascades. Alternative splicing>gg> results in multiple transcript variants.[provided by RefSeq, Feb 2011]

RPL7AP11 Gene

ribosomal protein L7a pseudog>gg>ene 11

LOC441098 Gene

putative POM121-like protein 1-like

LINC01011 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1011

LINC01010 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1010

RNF25 Gene

ring>gg> fing>gg>er protein 25

The protein encoded by this g>gg>ene contains a RINg>Gg> fing>gg>er motif. The mouse counterpart of this protein has been shown to interact with Rela, the p65 subunit of NF-kappaB (NFKB), and modulate NFKB-mediated transcription activity. The mouse protein also binds ubiquitin-conjug>gg>ating>gg> enzymes (E2s) and is a substrate for E2-dependent ubiquitination. [provided by RefSeq, Jul 2008]

RNF24 Gene

ring>gg> fing>gg>er protein 24

This g>gg>ene encodes an integ>gg>ral membrane protein that contains a RINg>Gg>-type zinc fing>gg>er. The encoded protein may interact with multiple transient g>receptorg> potential cation channel subfamily C (TRPC) proteins and reg>gg>ulate the trafficking>gg> and insertion of these proteins into the plasma membrane. [provided by RefSeq, Mar 2016]

RNF26 Gene

ring>gg> fing>gg>er protein 26

The protein encoded by this intronless g>gg>ene contains a C3HC5 type of RINg>Gg> fing>gg>er, a motif known to be involved in protein-DNA and protein-protein interactions. The expression of this g>gg>ene was found to be upreg>gg>ulated in cancer cell lines derived from different types of cancer. [provided by RefSeq, Jul 2008]

LSP1 Gene

lymphocyte-specific protein 1

This g>gg>ene encodes an intracellular F-actin binding>gg> protein. The protein is expressed in lymphocytes, neutrophils, macrophag>gg>es, and endothelium and may reg>gg>ulate neutrophil motility, adhesion to fibrinog>gg>en matrix proteins, and transendothelial mig>gg>ration. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Jul 2008]

KRTAP19-10P Gene

keratin associated protein 19-10, pseudog>gg>ene

LOC100533711 Gene

cytoskeleton associated protein 2-like pseudog>gg>ene

TAF8 Gene

TAF8 RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor, 43kDa

This g>gg>ene encodes one of several TATA-binding>gg> protein (TBP)-associated factors (TAFs), which are integ>gg>ral subunits of the g>gg>eneral transcription factor complex TFIID. TFIID recog>gg>nizes the core promoter of many g>gg>enes and nucleates the assembly of a transcription preinitiation complex containing>gg> RNA polymerase II and other initiation factors. The protein encoded by this g>gg>ene contains an H4-like histone fold domain, and interacts with several subunits of TFIID including>gg> TBP and the histone-fold protein TAF10. Alternatively spliced transcript variants have been described, but their biolog>gg>ical validity has not been determined. [provided by RefSeq, Jul 2008]

LOC102723534 Gene

E3 ubiquitin-protein lig>gg>ase HERC2-like

TMEM41A Gene

transmembrane protein 41A

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM41B Gene

transmembrane protein 41B

Enables phospholipid scramblase activity. Involved in autophag>gg>osome assembly and intracellular lipid transport. Located in mitochondria-associated endoplasmic reticulum membrane contact site. Is active in endoplasmic reticulum membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100419851 Gene

protein serine kinase H1 pseudog>gg>ene

LINC00940 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 940

LOC102724985 Gene

pyridoxal-dependent decarboxylase domain-containing>gg> protein 1

LOC102724984 Gene

uncharacterized protein KIAA2013

FAM90A7P Gene

putative protein FAM90A7

FAM90A7 belong>gg>s to subfamily II of the primate-specific FAM90A g>gg>ene family, which orig>gg>inated from multiple duplications and rearrang>gg>ements (Bosch et al., 2007 [PubMed 17684299]). For backg>gg>round information on the FAM90A g>gg>ene family, as well as information on the evolution of FAM90A g>gg>enes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009]

LOC729900 Gene

g>gg>olg>gg>in subfamily A member 6-like protein 2

RASAL1 Gene

RAS protein activator like 1 (g>Gg>AP1 like)

The protein encoded by this g>gg>ene is member of the g>Gg>AP1 family of g>Gg>TPase-activating>gg> proteins. These proteins stimulate the g>Gg>TPase activity of normal RAS p21 but not its oncog>gg>enic counterpart. Acting>gg> as a suppressor of RAS function, the protein enhances the weak intrinsic g>Gg>TPase activity of RAS proteins resulting>gg> in the inactive g>Gg>DP-bound form of RAS, thereby allowing>gg> control of cellular proliferation and differentiation. This particular family member contains domains which are characteristic of the g>Gg>AP1 subfamily of Rasg>Gg>AP proteins but, in contrast to the other g>Gg>AP1 family members, this protein is strong>gg>ly and selectively expressed in endocrine tissues. Alternatively spliced transcript variants that encode different isoforms have been described [provided by RefSeq, Jul 2010]

RASAL3 Gene

RAS protein activator like 3

This g>gg>ene belong>gg>s to the Ras g>Gg>TPase-activating>gg> proteins (Rasg>Gg>AP) family and encodes a protein with pleckstrin homolog>gg>y (PH), C2, and Ras g>Gg>TPase-activation protein (Rasg>Gg>AP) domains. This protein is localized near or at the plasma membrane when expressed exog>gg>enously. Reduced expression of this g>gg>ene in some cell lines resulted in increased levels of the active form of Ras (Ras-g>Gg>TP), sug>gg>g>gg>esting>gg> that this g>gg>ene may play a role in neg>gg>atively reg>gg>ulating>gg> the Ras sig>gg>naling>gg> pathway. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Jan 2017]

RASAL2 Gene

RAS protein activator like 2

This g>gg>ene encodes a protein that contains the g>Gg>AP-related domain (g>Gg>RD), a characteristic domain of g>Gg>TPase-activating>gg> proteins (g>Gg>APs). g>Gg>APs function as activators of Ras superfamily of small g>Gg>TPases. The protein encoded by this g>gg>ene is able to complement the defective Rasg>Gg>AP function in a yeast system. Two alternatively spliced transcript variants of this g>gg>ene encoding>gg> distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

PRO2012 Gene

uncharacterized protein PRO2012

LRRCC1 Gene

leucine rich repeat and coiled-coil centrosomal protein 1

This g>gg>ene encodes a centrosomal protein that maintains the structural integ>gg>rity of the centrosome and plays a key role in mitotic spindle formation. The encoded protein contains an N-terminal leucine-rich repeat domain and a C-terminal coiled-coil domain. It associates with the centrosome throug>gg>hout the cell cycle and accumulates on the mitotic centrosome. [provided by RefSeq, Mar 2017]

STK26 Gene

serine/threonine protein kinase 26

The product of this g>gg>ene is a member of the g>Gg>CK g>gg>roup III family of kinases, which are a subset of the Ste20-like kinases. The encoded protein contains an amino-terminal kinase domain, and a carboxy-terminal reg>gg>ulatory domain that mediates homodimerization. The protein kinase localizes to the g>Gg>olg>gg>i apparatus and is specifically activated by binding>gg> to the g>Gg>olg>gg>i matrix protein g>Gg>M130. It is also cleaved by caspase-3 in vitro, and may function in the apoptotic pathway. Several alternatively spliced transcript variants of this g>gg>ene have been described, but the full-leng>gg>th nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

LOC100420060 Gene

stem-loop binding>gg> protein pseudog>gg>ene

LOC100420067 Gene

transmembrane protein 231 pseudog>gg>ene

LOC100420066 Gene

transmembrane protein 111 pseudog>gg>ene

LOC105379422 Gene

octapeptide-repeat protein T2-like

LINC01269 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1269

SDCBPP3 Gene

syndecan binding>gg> protein (syntenin) pseudog>gg>ene 3

LINC01020 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1020

LINC01021 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1021

LINC01023 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1023

LINC01028 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1028

LINC01029 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1029

ZNF725P Gene

zinc fing>gg>er protein 725, pseudog>gg>ene

DNMBP Gene

dynamin binding>gg> protein

This g>gg>ene encodes a protein belong>gg>ing>gg> to the g>gg>uanine nucleotide exchang>gg>e factor family, and which reg>gg>ulates the config>gg>uration of cell junctions. It contains multiple binding>gg> sites for dynamin and thus links dynamin to actin reg>gg>ulatory proteins. Polymorphisms in this g>gg>ene have been linked to Alzheimer's disease in some populations, thoug>gg>h there are conflicting>gg> reports of such linkag>gg>es in other populations. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Dec 2015]

LOC100996520 Gene

40S ribosomal protein SA-like

MRPL49P1 Gene

mitochondrial ribosomal protein L49 pseudog>gg>ene 1

MRPL49P2 Gene

mitochondrial ribosomal protein L49 pseudog>gg>ene 2

LINC01262 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1262

LOC102724159 Gene

periodic tryptophan protein 2 homolog>gg>

LOC101928422 Gene

protein FAM115C-like

LOC101928425 Gene

protein shisa-5 pseudog>gg>ene

g>Gg>ABARAPL3 Gene

g>Gg>ABA(A) g>receptorg>s associated protein like 3, pseudog>gg>ene

Predicted to enable g>Gg>ABA g>receptorg> binding>gg> activity; phosphatidylethanolamine binding>gg> activity; and ubiquitin protein lig>gg>ase binding>gg> activity. Predicted to be involved in cellular response to nitrog>gg>en starvation and macroautophag>gg>y. Predicted to be located in cytoplasmic vesicle; membrane; and microtubule. Predicted to be active in autophag>gg>osome membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

DVL1 Gene

dishevelled seg>gg>ment polarity protein 1

DVL1, the human homolog>gg> of the Drosophila dishevelled g>gg>ene (dsh) encodes a cytoplasmic phosphoprotein that reg>gg>ulates cell proliferation, acting>gg> as a transducer molecule for developmental processes, including>gg> seg>gg>mentation and neuroblast specification. DVL1 is a candidate g>gg>ene for neuroblastomatous transformation. The Schwartz-Jampel syndrome and Charcot-Marie-Tooth disease type 2A have been mapped to the same reg>gg>ion as DVL1. The phenotypes of these diseases may be consistent with defects which mig>gg>ht be expected from aberrant expression of a DVL g>gg>ene during>gg> development. [provided by RefSeq, Jul 2008]

TOPBP1 Gene

topoisomerase (DNA) II binding>gg> protein 1

This g>gg>ene encodes a binding>gg> protein which interacts with the C-terminal reg>gg>ion of topoisomerase II beta. This interaction sug>gg>g>gg>ests a supportive role for this protein in the catalytic reactions of topoisomerase II beta throug>gg>h transient breakag>gg>es of DNA strands. [provided by RefSeq, Jul 2008]

TSPY15P Gene

testis specific protein, Y-linked 15, pseudog>gg>ene

LOC732229 Gene

AN1-type zinc fing>gg>er protein 5 pseudog>gg>ene

LOC100129144 Gene

zinc fing>gg>er protein 681 pseudog>gg>ene

g>Gg>JD4 Gene

g>gg>ap junction protein, delta 4, 40.1kDa

Connexins, such as g>Gg>JD4, are involved in the formation of g>gg>ap junctions, intercellular conduits that directly connect the cytoplasms of contacting>gg> cells. Each g>gg>ap junction channel is formed by docking>gg> of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008]

g>Gg>JD3 Gene

g>gg>ap junction protein, delta 3, 31.9kDa

This g>gg>ene is a member of the larg>gg>e family of connexins that are required for the formation of g>gg>ap junctions. Six connexin monomers form a hemichannel, or connexon, on the cell surface. This connexon can interact with a connexon from a neig>gg>hboring>gg> cell, thus forming>gg> a channel linking>gg> the cytoplasm of the 2 cells. [provided by RefSeq, Jul 2008]

g>Gg>JD2 Gene

g>gg>ap junction protein, delta 2, 36kDa

This g>gg>ene encodes a member of the connexin protein family. Connexins are g>gg>ap junction proteins which are arrang>gg>ed in g>gg>roups of 6 around a central pore to form a connexon, a component of the g>gg>ap junction intercellular channel. The channels formed by this protein allow cationic molecule exchang>gg>e between human beta cells and may function in the reg>gg>ulation of insulin secretion. [provided by RefSeq, Oct 2012]

NAIP Gene

NLR family, apoptosis inhibitory protein

This g>gg>ene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated reg>gg>ion contains at least four g>gg>enes and repetitive elements which make it prone to rearrang>gg>ements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining>gg> the org>gg>anization of this g>gg>enomic reg>gg>ion. This copy of the g>gg>ene is full leng>gg>th; additional copies with truncations and internal deletions are also present in this reg>gg>ion of chromosome 5q13. It is thoug>gg>ht that this g>gg>ene is a modifier of spinal muscular atrophy caused by mutations in a neig>gg>hboring>gg> g>gg>ene, SMN1. The protein encoded by this g>gg>ene contains reg>gg>ions of homolog>gg>y to two baculovirus inhibitor of apoptosis proteins, and it is able to suppress apoptosis induced by various sig>gg>nals. Alternative splicing>gg> and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Nov 2016]

MIS18BP1 Gene

MIS18 binding>gg> protein 1

Predicted to enable DNA binding>gg> activity. Predicted to be involved in cell division. Predicted to be located in nucleoplasm. Predicted to be part of CENP-A recruiting>gg> complex. Predicted to be active in chromosome, centromeric reg>gg>ion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM179 Gene

transmembrane protein 179

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NOP16 Gene

NOP16 nucleolar protein

This g>gg>ene encodes a protein that is localized to the nucleolus. Expression of this g>gg>ene is induced by estrog>gg>ens and Myc protein and is a marker of poor patient survival in breast cancer. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Dec 2015]

KRTAP8-2P Gene

keratin associated protein 8-2, pseudog>gg>ene

LOC101926938 Gene

60S ribosomal protein L12 pseudog>gg>ene

HSPD1P22 Gene

heat shock 60kDa protein 1 (chaperonin) pseudog>gg>ene 22

HSPD1P20 Gene

heat shock 60kDa protein 1 (chaperonin) pseudog>gg>ene 20

HSPD1P21 Gene

heat shock 60kDa protein 1 (chaperonin) pseudog>gg>ene 21

S100P Gene

S100 calcium binding>gg> protein P

The protein encoded by this g>gg>ene is a member of the S100 family of proteins containing>gg> 2 EF-hand calcium-binding>gg> motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide rang>gg>e of cells, and involved in the reg>gg>ulation of a number of cellular processes such as cell cycle prog>gg>ression and differentiation. S100 g>gg>enes include at least 13 members which are located as a cluster on chromosome 1q21; however, this g>gg>ene is located at 4p16. This protein, in addition to binding>gg> Ca2+, also binds Zn2+ and Mg>gg>2+. This protein may play a role in the etiolog>gg>y of prostate cancer. [provided by RefSeq, Jul 2008]

S100g>Gg> Gene

S100 calcium binding>gg> protein g>Gg>

This g>gg>ene encodes calbindin D9K, a vitamin D-dependent calcium-binding>gg> protein. This cytosolic protein belong>gg>s to a family of calcium-binding>gg> proteins that includes calmodulin, parvalbumin, troponin C, and S100 protein. In the intestine, the protein is vitamin D-dependent and its expression correlates with calcium transport activity. The protein may increase Ca2+ absorption by buffering>gg> Ca2+ in the cytoplasm and increase ATP-dependent Ca2+ transport in duodenal basolateral membrane vesicles. [provided by RefSeq, Jul 2008]

S100B Gene

S100 calcium binding>gg> protein B

The protein encoded by this g>gg>ene is a member of the S100 family of proteins containing>gg> 2 EF-hand calcium-binding>gg> motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide rang>gg>e of cells, and involved in the reg>gg>ulation of a number of cellular processes such as cell cycle prog>gg>ression and differentiation. S100 g>gg>enes include at least 13 members which are located as a cluster on chromosome 1q21; however, this g>gg>ene is located at 21q22.3. This protein may function in Neurite extension, proliferation of melanoma cells, stimulation of Ca2+ fluxes, inhibition of PKC-mediated phosphorylation, astrocytosis and axonal proliferation, and inhibition of microtubule assembly. Chromosomal rearrang>gg>ements and altered expression of this g>gg>ene have been implicated in several neurolog>gg>ical, neoplastic, and other types of diseases, including>gg> Alzheimer's disease, Down's syndrome, epilepsy, amyotrophic lateral sclerosis, melanoma, and type I diabetes. [provided by RefSeq, Jul 2008]

PSMC3IP Gene

PSMC3 interacting>gg> protein

This g>gg>ene encodes a protein that functions in meiotic recombination. It is a subunit of the PSMC3IP/MND1 complex, which interacts with PSMC3/TBP1 to stimulate DMC1- and RAD51-mediated strand exchang>gg>e during>gg> meiosis. The protein encoded by this g>gg>ene can also co-activate lig>gg>and-driven transcription mediated by estrog>gg>en, androg>gg>en, g>gg>lucocorticoid, prog>gg>esterone, and thyroid nuclear g>receptorg>s. Mutations in this g>gg>ene cause XX female g>gg>onadal dysg>gg>enesis. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants. [provided by RefSeq, Dec 2011]

ZNF865 Gene

zinc fing>gg>er protein 865

Predicted to enable DNA-binding>gg> transcription factor activity and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF862 Gene

zinc fing>gg>er protein 862

Predicted to enable metal ion binding>gg> activity and protein dimerization activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF860 Gene

zinc fing>gg>er protein 860

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF512B Gene

zinc fing>gg>er protein 512B

Enables DNA-binding>gg> transcription repressor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of miRNA transcription. Located in nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZFP1 Gene

ZFP1 zinc fing>gg>er protein

This g>gg>ene belong>gg>s to the zinc fing>gg>er protein family. Some members of this family bind to DNA by zinc-mediated secondary structures called zinc fing>gg>ers, and are involved in transcriptional reg>gg>ulation. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Jan 2016]

ZFP2 Gene

ZFP2 zinc fing>gg>er protein

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZFP3 Gene

ZFP3 zinc fing>gg>er protein

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC101060149 Gene

40S ribosomal protein S24 pseudog>gg>ene

RPL12P41 Gene

ribosomal protein L12 pseudog>gg>ene 41

LOC100419706 Gene

zinc fing>gg>er protein 84 pseudog>gg>ene

RPL12P40 Gene

ribosomal protein L12 pseudog>gg>ene 40

RPL12P43 Gene

ribosomal protein L12 pseudog>gg>ene 43

PABPC1 Gene

poly(A) binding>gg> protein, cytoplasmic 1

This g>gg>ene encodes a poly(A) binding>gg> protein. The protein shuttles between the nucleus and cytoplasm and binds to the 3' poly(A) tail of eukaryotic messeng>gg>er RNAs via RNA-recog>gg>nition motifs. The binding>gg> of this protein to poly(A) promotes ribosome recruitment and translation initiation; it is also required for poly(A) shortening>gg> which is the first step in mRNA decay. The g>gg>ene is part of a small g>gg>ene family including>gg> three protein-coding>gg> g>gg>enes and several pseudog>gg>enes.[provided by RefSeq, Aug>gg> 2010]

PABPC3 Gene

poly(A) binding>gg> protein, cytoplasmic 3

Messeng>gg>er RNA stability and translation initiation are extensively under the control of poly(A)-binding>gg> proteins (PABP). See PABPC1 (MIM 604679) for backg>gg>round information.[supplied by OMIM, Jul 2002]

PABPC4 Gene

poly(A) binding>gg> protein, cytoplasmic 4 (inducible form)

Poly(A)-binding>gg> proteins (PABPs) bind to the poly(A) tail present at the 3-prime ends of most eukaryotic mRNAs. PABPC4 or IPABP (inducible PABP) was isolated as an activation-induced T-cell mRNA encoding>gg> a protein. Activation of T cells increased PABPC4 mRNA levels in T cells approximately 5-fold. PABPC4 contains 4 RNA-binding>gg> domains and proline-rich C terminus. PABPC4 is localized primarily to the cytoplasm. It is sug>gg>g>gg>ested that PABPC4 mig>gg>ht be necessary for reg>gg>ulation of stability of labile mRNA species in activated T cells. PABPC4 was also identified as an antig>gg>en, APP1 (activated-platelet protein-1), expressed on thrombin-activated rabbit platelets. PABPC4 may also be involved in the reg>gg>ulation of protein translation in platelets and meg>gg>akaryocytes or may participate in the binding>gg> or stabilization of polyadenylates in platelet dense g>gg>ranules. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. This protein has also been found to interact with coronavirus nucleocapsid proteins and is thoug>gg>ht to inhibit coronavirus replication. [provided by RefSeq, Nov 2021]

PABPC5 Gene

poly(A) binding>gg> protein, cytoplasmic 5

This g>gg>ene encodes a protein that binds to the polyA tail found at the 3' end of most eukaryotic mRNAs. It is thoug>gg>ht to play a role in the reg>gg>ulation of mRNA metabolic processes in the cytoplasm. This g>gg>ene is located in a g>gg>ene-poor reg>gg>ion within the X-specific 13d-sY43 subinterval of the chromosome Xq21.3/Yp11.2 homolog>gg>y block. It is located close to translocation breakpoints associated with premature ovarian failure, and is therefore a potential candidate g>gg>ene for this disorder. [provided by RefSeq, May 2010]

ZNF840P Gene

zinc fing>gg>er protein 840, pseudog>gg>ene

g>Gg>OLPH3 Gene

g>gg>olg>gg>i phosphoprotein 3 (coat-protein)

The g>Gg>olg>gg>i complex plays a key role in the sorting>gg> and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this g>gg>ene is a peripheral membrane protein of the g>Gg>olg>gg>i stack and may have a reg>gg>ulatory role in g>Gg>olg>gg>i trafficking>gg>. Several alternatively spliced transcript variants of this g>gg>ene have been described, but the full-leng>gg>th nature of these variants has not been determined. [provided by RefSeq, Jul 2008]

PPME1 Gene

protein phosphatase methylesterase 1

This g>gg>ene encodes a protein phosphatase methylesterase localized to the nucleus. The encoded protein acts on the protein phosphatase-2A catalytic subunit and supports the ERK pathway throug>gg>h dephosphorylation of reg>gg>ulatory proteins. It plays a role in malig>gg>nant g>gg>lioma prog>gg>ression. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Oct 2012]

HSF2BP Gene

heat shock transcription factor 2 binding>gg> protein

HSF2 binding>gg> protein (HSF2BP) associates with HSF2. The interaction occurs between the trimerization domain of HSF2 and the amino terminal hydrophilic reg>gg>ion of HSF2BP that comprises two leucine zipper motifs. HSF2BP may therefore be involved in modulating>gg> HSF2 activation. [provided by RefSeq, Jul 2008]

LOC101060852 Gene

protein phosphatase 1 reg>gg>ulatory subunit 26-like

LOC100507556 Gene

putative uncharacterized protein NCRNA00269-like

OBP2B Gene

odorant binding>gg> protein 2B

Predicted to enable odorant binding>gg> activity. Predicted to be involved in chemosensory behavior and sensory perception of smell. Predicted to be located in extracellular reg>gg>ion. Predicted to be active in extracellular space. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OBP2A Gene

odorant binding>gg> protein 2A

This g>gg>ene encodes a small extracellular protein belong>gg>ing>gg> to the lipocalin superfamily. The protein is thoug>gg>ht to transport small, hydrophobic, volatile molecules or odorants throug>gg>h the nasal mucus to olfactory g>receptorg>s, and may also function as a scaveng>gg>er of hig>gg>hly concentrated or toxic odors. The protein is expressed as a monomer in the nasal mucus, and can bind diverse types of odorants with a hig>gg>her affinity for aldehydes and fatty acids. This g>gg>ene and a hig>gg>hly similar family member are located in a cluster of lipocalin g>gg>enes on chromosome 9. Alternatively spliced transcript variants have been described, but their biolog>gg>ical validity has not been determined. [provided by RefSeq, Jul 2008]

LINC01222 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1222

LINC01226 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1226

LINC01224 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1224

LINC01225 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1225

LINC01228 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1228

LINC01229 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1229

DLC1 Gene

DLC1 Rho g>Gg>TPase activating>gg> protein

This g>gg>ene encodes a g>Gg>TPase-activating>gg> protein (g>Gg>AP) that is a member of the rhog>Gg>AP family of proteins which play a role in the reg>gg>ulation of small g>Gg>TP-binding>gg> proteins. g>Gg>AP family proteins participate in sig>gg>naling>gg> pathways that reg>gg>ulate cell processes involved in cytoskeletal chang>gg>es. This g>gg>ene functions as a tumor suppressor g>gg>ene in a number of common cancers, including>gg> prostate, lung>gg>, colorectal, and breast cancers. Multiple transcript variants due to alternative promoters and alternative splicing>gg> have been found for this g>gg>ene.[provided by RefSeq, Apr 2010]

ID4 Gene

inhibitor of DNA binding>gg> 4, dominant neg>gg>ative helix-loop-helix protein

This g>gg>ene encodes a member of the inhibitor of DNA binding>gg> (ID) protein family. The encoded protein lacks DNA binding>gg> ability, and instead reg>gg>ulates g>gg>ene expression throug>gg>h binding>gg> to and inhibiting>gg> basic helix-loop-helix transcription factors. This protein has been implicated in the reg>gg>ulation of diverse cellular processes that play a role in development and tumorig>gg>enesis. [provided by RefSeq, Aug>gg> 2017]

ID2 Gene

inhibitor of DNA binding>gg> 2, dominant neg>gg>ative helix-loop-helix protein

The protein encoded by this g>gg>ene belong>gg>s to the inhibitor of DNA binding>gg> family, members of which are transcriptional reg>gg>ulators that contain a helix-loop-helix (HLH) domain but not a basic domain. Members of the inhibitor of DNA binding>gg> family inhibit the functions of basic helix-loop-helix transcription factors in a dominant-neg>gg>ative manner by suppressing>gg> their heterodimerization partners throug>gg>h the HLH domains. This protein may play a role in neg>gg>atively reg>gg>ulating>gg> cell differentiation. A pseudog>gg>ene of this g>gg>ene is located on chromosome 3. [provided by RefSeq, Aug>gg> 2011]

ID3 Gene

inhibitor of DNA binding>gg> 3, dominant neg>gg>ative helix-loop-helix protein

The protein encoded by this g>gg>ene is a helix-loop-helix (HLH) protein that can form heterodimers with other HLH proteins. However, the encoded protein lacks a basic DNA-binding>gg> domain and therefore inhibits the DNA binding>gg> of any HLH protein with which it interacts. [provided by RefSeq, Aug>gg> 2011]

ID1 Gene

inhibitor of DNA binding>gg> 1, dominant neg>gg>ative helix-loop-helix protein

The protein encoded by this g>gg>ene is a helix-loop-helix (HLH) protein that can form heterodimers with members of the basic HLH family of transcription factors. The encoded protein has no DNA binding>gg> activity and therefore can inhibit the DNA binding>gg> and transcriptional activation ability of basic HLH proteins with which it interacts. This protein may play a role in cell g>gg>rowth, senescence, and differentiation. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

RPL17P25 Gene

ribosomal protein L17 pseudog>gg>ene 25

RPL17P27 Gene

ribosomal protein L17 pseudog>gg>ene 27

RPL17P28 Gene

ribosomal protein L17 pseudog>gg>ene 28

RPL17P29 Gene

ribosomal protein L17 pseudog>gg>ene 29

HSP90AB6P Gene

heat shock protein 90kDa alpha (cytosolic), class B member 6, pseudog>gg>ene

KRTAP19-9P Gene

keratin associated protein 19-9, pseudog>gg>ene

CDY16P Gene

chromodomain protein, Y-linked 16 pseudog>gg>ene

RRBP1 Gene

ribosome binding>gg> protein 1

This g>gg>ene encodes a ribosome-binding>gg> protein of the endoplasmic reticulum (ER) membrane. Studies sug>gg>g>gg>est that this g>gg>ene plays a role in ER proliferation, secretory pathways and secretory cell differentiation, and mediation of ER-microtubule interactions. Alternative splicing>gg> has been observed and protein isoforms are characterized by reg>gg>ions of N-terminal decapeptide and C-terminal heptad repeats. Splicing>gg> of the tandem repeats results in variations in ribosome-binding>gg> affinity and secretory function. The full-leng>gg>th nature of variants which differ in repeat leng>gg>th has not been determined. Pseudog>gg>enes of this g>gg>ene have been identified on chromosomes 3 and 7, and RRBP1 has been excluded as a candidate g>gg>ene in the cause of Alag>gg>ille syndrome, the result of a mutation in a nearby g>gg>ene on chromosome 20p12. [provided by RefSeq, Apr 2012]

LINC00266-2P Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 266-2, pseudog>gg>ene

LOC105374861 Gene

putative uncharacterized protein C8orf44

ZNF970P Gene

zinc fing>gg>er protein 970, pseudog>gg>ene

SERBP1 Gene

SERPINE1 mRNA binding>gg> protein 1

Enables several functions, including>gg> SUMO binding>gg> activity; mRNA 3'-UTR binding>gg> activity; and ribosome binding>gg> activity. Involved in PML body org>gg>anization and ribosome hibernation. Located in cytosol and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MRPS25P1 Gene

mitochondrial ribosomal protein S25 pseudog>gg>ene 1

LOC400174 Gene

sing>gg>le stranded DNA binding>gg> protein 4 pseudog>gg>ene

LOC100420064 Gene

density-reg>gg>ulated protein pseudog>gg>ene

LOC105379554 Gene

maFF-interacting>gg> protein

TMEM56 Gene

transmembrane protein 56

Predicted to be involved in lipid homeostasis. Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SH2B2 Gene

SH2B adaptor protein 2

The protein encoded by this g>gg>ene is expressed in B lymphocytes and contains pleckstrin homolog>gg>y and src homolog>gg>y 2 (SH2) domains. In Burkitt's lymphoma cell lines, it is tyrosine-phosphorylated in response to B cell g>receptorg> stimulation. Because it binds Shc independent of stimulation and g>Gg>rb2 after stimulation, it appears to play a role in sig>gg>nal transduction from the g>receptorg> to the Shc/g>Gg>rb2 pathway. [provided by RefSeq, Jun 2009]

SH2B3 Gene

SH2B adaptor protein 3

This g>gg>ene encodes a member of the SH2B adaptor family of proteins, which are involved in a rang>gg>e of sig>gg>naling>gg> activities by g>gg>rowth factor and cytokine g>receptorg>s. The encoded protein is a key neg>gg>ative reg>gg>ulator of cytokine sig>gg>naling>gg> and plays a critical role in hematopoiesis. Mutations in this g>gg>ene have been associated with susceptibility to celiac disease type 13 and susceptibility to insulin-dependent diabetes mellitus. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Apr 2014]

SH2B1 Gene

SH2B adaptor protein 1

This g>gg>ene encodes a member of the SH2-domain containing>gg> mediators family. The encoded protein mediates activation of various kinases and may function in cytokine and g>gg>rowth factor g>receptorg> sig>gg>naling>gg> and cellular transformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]

HCCAT5 Gene

hepatocellular carcinoma associated transcript 5 (non-protein coding>gg>)

FLJ40536 Gene

FLJ40536 protein

TSPO2 Gene

translocator protein 2

Enables 5-aminolevulinic acid transmembrane transporter activity. Involved in 5-aminolevulinic acid import across plasma membrane. Located in org>gg>anelle membrane and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

Pg>Gg>LYRP3 Gene

peptidog>gg>lycan recog>gg>nition protein 3

This g>gg>ene encodes a peptidog>gg>lycan recog>gg>nition protein, which belong>gg>s to the N-acetylmuramoyl-L-alanine amidase 2 family. These proteins are part of the innate immune system and recog>gg>nize peptidog>gg>lycan, a ubiquitous component of bacterial cell walls. This antimicrobial protein binds to murein peptidog>gg>lycans of g>Gg>ram-positive bacteria. [provided by RefSeq, Oct 2014]

Pg>Gg>LYRP2 Gene

peptidog>gg>lycan recog>gg>nition protein 2

This g>gg>ene encodes a peptidog>gg>lycan recog>gg>nition protein, which belong>gg>s to the N-acetylmuramoyl-L-alanine amidase 2 family. This protein hydrolyzes the link between N-acetylmuramoyl residues and L-amino acid residues in bacterial cell wall g>gg>lycopeptides, and thus may play a scaveng>gg>er role by dig>gg>esting>gg> biolog>gg>ically active peptidog>gg>lycan into biolog>gg>ically inactive frag>gg>ments. [provided by RefSeq, Sep 2011]

Pg>Gg>LYRP1 Gene

peptidog>gg>lycan recog>gg>nition protein 1

Enables several functions, including>gg> Hsp70 protein binding>gg> activity; peptidog>gg>lycan binding>gg> activity; and peptidog>gg>lycan immune g>receptorg> activity. Involved in antimicrobial humoral immune response mediated by antimicrobial peptide; defense response to g>Gg>ram-positive bacterium; and detection of bacterium. Located in extracellular exosome. Is active in extracellular space. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100130550 Gene

g>gg>2/M phase-specific E3 ubiquitin-protein lig>gg>ase-like

SYCE1L Gene

synaptonemal complex central element protein 1-like

Predicted to be involved in synaptonemal complex assembly. Located in intermediate filament cytoskeleton. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

Pg>Gg>LYRP4 Gene

peptidog>gg>lycan recog>gg>nition protein 4

Summary: This g>gg>ene encodes a peptidog>gg>lycan recog>gg>nition protein, which belong>gg>s to the N-acetylmuramoyl-L-alanine amidase 2 family. These proteins are part of the innate immune system and recog>gg>nize peptidog>gg>lycan, a ubiquitous component of bacterial cell walls. This antimicrobial protein binds to murein peptidog>gg>lycans of g>Gg>ram-positive bacteria. [provided by RefSeq, Oct 2014]

Rg>Gg>S22 Gene

reg>gg>ulator of g>Gg>-protein sig>gg>naling>gg> 22

Enables g>Gg>-protein alpha-subunit binding>gg> activity. Predicted to be involved in neg>gg>ative reg>gg>ulation of sig>gg>nal transduction. Located in actin cytoskeleton; cytosol; and fibrillar center. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

Rg>Gg>S21 Gene

reg>gg>ulator of g>Gg>-protein sig>gg>naling>gg> 21

Reg>gg>ulator of g>Gg> protein sig>gg>naling>gg> (Rg>Gg>S) proteins are reg>gg>ulatory and structural components of g>Gg> g>protein-coupledg> g>receptorg> complexes. Rg>Gg>S proteins are g>Gg>TPase-activating>gg> proteins for g>Gg>i (see g>Gg>NAI1; MIM 139310) and g>Gg>q (see g>Gg>NAQ; MIM 600998) class g>Gg>-alpha proteins. They accelerate transit throug>gg>h the cycle of g>Gg>TP binding>gg> and hydrolysis and thereby accelerate sig>gg>naling>gg> kinetics and termination.[supplied by OMIM, Nov 2008]

Rg>Gg>S20 Gene

reg>gg>ulator of g>Gg>-protein sig>gg>naling>gg> 20

The protein encoded by this g>gg>ene belong>gg>s to the family of reg>gg>ulator of g>Gg> protein sig>gg>naling>gg> (Rg>Gg>S) proteins, which are reg>gg>ulatory and structural components of g>Gg> g>protein-coupledg> g>receptorg> complexes. Rg>Gg>S proteins inhibit sig>gg>nal transduction by increasing>gg> the g>Gg>TPase activity of g>Gg> protein alpha subunits, thereby driving>gg> them into their inactive g>Gg>DP-bound forms. This protein selectively binds to g>Gg>(z)-alpha and g>Gg>(alpha)-i2 subunits, and reg>gg>ulates their sig>gg>naling>gg> activities. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Sep 2011]

VPS54 Gene

vacuolar protein sorting>gg> 54 homolog>gg> (S. cerevisiae)

This g>gg>ene encodes for a protein that in yeast forms part of a trimeric vacuolar-protein-sorting>gg> complex that is required for retrog>gg>rade transport of proteins from prevacuoles to the late g>Gg>olg>gg>i compartment. As in yeast, mammalian Vps54 proteins contain a coiled-coil reg>gg>ion and dileucine motifs. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms [provided by RefSeq, Jul 2008]

RBMY2MP Gene

RNA binding>gg> motif protein, Y-linked, family 2, member M pseudog>gg>ene

ESRP2 Gene

epithelial splicing>gg> reg>gg>ulatory protein 2

ESPR2 is an epithelial cell-type-specific splicing>gg> reg>gg>ulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug>gg> 2009]

MRPL36 Gene

mitochondrial ribosomal protein L36

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein. A pseudog>gg>ene corresponding>gg> to this g>gg>ene is found on chromosome 2p. [provided by RefSeq, Jul 2008]

MRPL37 Gene

mitochondrial ribosomal protein L37

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]

MRPL34 Gene

mitochondrial ribosomal protein L34

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]

MRPL35 Gene

mitochondrial ribosomal protein L35

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein. Sequence analysis identified three transcript variants. Pseudog>gg>enes corresponding>gg> to this g>gg>ene are found on chromosomes 6p, 10q, and Xp. [provided by RefSeq, Jul 2008]

MRPL32 Gene

mitochondrial ribosomal protein L32

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein that belong>gg>s to the L32 ribosomal protein family. A pseudog>gg>ene corresponding>gg> to this g>gg>ene is found on chromosome Xp. [provided by RefSeq, Jul 2008]

MRPL33 Gene

mitochondrial ribosomal protein L33

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein. Alternatively spliced transcript variants encoding>gg> different isoforms have been described. [provided by RefSeq, Jul 2008]

MRPL30 Gene

mitochondrial ribosomal protein L30

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein. Alternative splicing>gg> results in multiple transcript variants. Pseudog>gg>enes corresponding>gg> to this g>gg>ene are found on chromosomes 6p and 12p. Read-throug>gg>h transcription also exists between this g>gg>ene and the neig>gg>hboring>gg> upstream lipoyltransferase 1 (LIPT1) g>gg>ene. [provided by RefSeq, Mar 2011]

MRPL38 Gene

mitochondrial ribosomal protein L38

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]

RNF103 Gene

ring>gg> fing>gg>er protein 103

The protein encoded by this g>gg>ene contains a RINg>Gg>-H2 fing>gg>er, a motif known to be involved in protein-protein and protein-DNA interactions. This g>gg>ene is hig>gg>hly expressed in normal cerebellum, but not in the cerebral cortex. The expression of the rat counterpart in the frontal cortex and hippocampus was shown to be induced by elctroconvulsive treatment (ECT) as well as chronic antidepressant treatment, sug>gg>g>gg>esting>gg> that this g>gg>ene may be a molecular targ>gg>et for ECT and antidepressants. The protein is a ubiquitin lig>gg>ase that functions in the endoplasmic reticulum-associated deg>gg>radation pathway. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants. Read-throug>gg>h transcription also exists between this g>gg>ene and the downstream CHMP3 (charg>gg>ed multivesicular body protein 3) g>gg>ene. [provided by RefSeq, Oct 2011]

RECQL5 Gene

RecQ protein-like 5

The protein encoded by this g>gg>ene is a helicase that is important for g>gg>enome stability. The encoded protein also prevents aberrant homolog>gg>ous recombination by displacing>gg> RAD51 from ssDNA. Three transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2011]

RECQL4 Gene

RecQ protein-like 4

The protein encoded by this g>gg>ene is a DNA helicase that belong>gg>s to the RecQ helicase family. DNA helicases unwind double-stranded DNA into sing>gg>le-stranded DNAs and may modulate chromosome seg>gg>reg>gg>ation. This g>gg>ene is predominantly expressed in thymus and testis. Mutations in this g>gg>ene are associated with Rothmund-Thomson, RAPADILINO and Baller-g>Gg>erold syndromes. [provided by RefSeq, Jan 2010]

LINC01589 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1589

YTHDF3 Gene

YTH N(6)-methyladenosine RNA binding>gg> protein 3

This g>gg>ene encodes a member of the YTH (YT521-B homolog>gg>y) domain protein family. The YTH domain is common in eukaryotes, is often found in the middle of the protein sequence, and may function in binding>gg> to RNA. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Apr 2013]

YTHDF1 Gene

YTH N(6)-methyladenosine RNA binding>gg> protein 1

Enables N6-methyladenosine-containing>gg> RNA reader activity and ribosome binding>gg> activity. Involved in mRNA destabilization; positive reg>gg>ulation of translational initiation; and stress g>gg>ranule assembly. Located in P-body and cytoplasmic stress g>gg>ranule. Implicated in colorectal cancer. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NPIPB11 Gene

nuclear pore complex interacting>gg> protein family, member B11

Predicted to act upstream of or within prevention of polyspermy. Predicted to be located in external side of plasma membrane and sperm head plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TERF2IPP1 Gene

telomeric repeat binding>gg> factor 2, interacting>gg> protein pseudog>gg>ene 1

RPS2P16 Gene

ribosomal protein S2 pseudog>gg>ene 16

LOC100421893 Gene

insulin-like g>gg>rowth factor 2 mRNA binding>gg> protein 2 pseudog>gg>ene

NPIPB1P Gene

nuclear pore complex interacting>gg> protein family, member B1, pseudog>gg>ene

LOC102725001 Gene

putative ankyrin repeat domain-containing>gg> protein 20A5

SNAP23P Gene

synaptosomal-associated protein, 23kDa pseudog>gg>ene

LOC391136 Gene

RNA binding>gg> motif protein 3 pseudog>gg>ene

LRRC3DN Gene

LRRC3 downstream neig>gg>hbor (non-protein coding>gg>)

CEP57L1 Gene

centrosomal protein 57kDa-like 1

Enables identical protein binding>gg> activity. Predicted to be located in cytoplasm; microtubule; and microtubule org>gg>anizing>gg> center. Predicted to be active in centrosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100292922 Gene

putative ankyrin repeat domain-containing>gg> protein ENSP00000330211

KRTAP6-2 Gene

keratin associated protein 6-2

Enables identical protein binding>gg> activity. Predicted to be involved in keratinization. Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KRTAP6-1 Gene

keratin associated protein 6-1

Predicted to be involved in keratinization. Located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100287072 Gene

ribosomal protein S6 kinase, 70kDa, polypeptide 1 pseudog>gg>ene

CEP131 Gene

centrosomal protein 131kDa

Enables protein homodimerization activity. Involved in several processes, including>gg> intraciliary transport involved in cilium assembly; protein localization to centrosome; and reg>gg>ulation of centrosome duplication. Located in ciliary transition zone; microtubule org>gg>anizing>gg> center; and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CEP135 Gene

centrosomal protein 135kDa

This g>gg>ene encodes a centrosomal protein, which acts as a scaffolding>gg> protein during>gg> early centriole biog>gg>enesis, and is also required for centriole-centriole cohesion during>gg> interphase. Mutations in this g>gg>ene are associated with autosomal recessive primary microcephaly-8. [provided by RefSeq, Jun 2012]

WIPF3 Gene

WAS/WASL interacting>gg> protein family, member 3

Predicted to enable alpha-tubulin binding>gg> activity and g>gg>amma-tubulin binding>gg> activity. Predicted to be involved in Arp2/3 complex-mediated actin nucleation; endosomal transport; and exocytosis. Predicted to be located in cytosol. Predicted to be part of WASH complex. Predicted to be active in early endosome; recycling>gg> endosome; and synapse. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

WIPF2 Gene

WAS/WASL interacting>gg> protein family, member 2

This g>gg>ene encodes a WASP interacting>gg> protein (WIP)-related protein. It has been shown that this protein has a role in the WASP-mediated org>gg>anization of the actin cytoskeleton and that this protein is a potential link between the activated platelet-derived g>gg>rowth factor g>receptorg> and the actin polymerization machinery. [provided by RefSeq, Jul 2008]

WIPF1 Gene

WAS/WASL interacting>gg> protein family, member 1

This g>gg>ene encodes a protein that plays an important role in the org>gg>anization of the actin cytoskeleton. The encoded protein binds to a reg>gg>ion of Wiskott-Aldrich syndrome protein that is frequently mutated in Wiskott-Aldrich syndrome, an X-linked recessive disorder. Impairment of the interaction between these two proteins may contribute to the disease. Two transcript variants encoding>gg> the same protein have been identified for this g>gg>ene. [provided by RefSeq, Jul 2008]

RBM4B Gene

RNA binding>gg> motif protein 4B

Enables RNA binding>gg> activity. Predicted to be involved in entrainment of circadian clock by photoperiod; mRNA splicing>gg>, via spliceosome; and reg>gg>ulation of g>gg>ene expression. Predicted to act upstream of or within positive reg>gg>ulation of g>gg>ene expression. Located in cytosol and nucleoplasm. Part of protein-containing>gg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100129205 Gene

ribosomal protein S24 pseudog>gg>ene

TMEM178A Gene

transmembrane protein 178A

Predicted to be involved in neg>gg>ative reg>gg>ulation of osteoclast differentiation and reg>gg>ulation of cytosolic calcium ion concentration. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be active in endoplasmic reticulum membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS17P8 Gene

ribosomal protein S17 pseudog>gg>ene 8

RPS17P9 Gene

ribosomal protein S17 pseudog>gg>ene 9

RPS17P6 Gene

ribosomal protein S17 pseudog>gg>ene 6

RPS17P7 Gene

ribosomal protein S17 pseudog>gg>ene 7

RPS17P5 Gene

ribosomal protein S17 pseudog>gg>ene 5

RPS17P2 Gene

ribosomal protein S17 pseudog>gg>ene 2

RPS17P3 Gene

ribosomal protein S17 pseudog>gg>ene 3

RPS17P1 Gene

ribosomal protein S17 pseudog>gg>ene 1

LOC100289206 Gene

uncharacterized protein CXorf49-like

RBM41 Gene

RNA binding>gg> motif protein 41

Predicted to enable U12 snRNA binding>gg> activity and pre-mRNA intronic binding>gg> activity. Predicted to be involved in mRNA splicing>gg>, via spliceosome. Predicted to be part of U12-type spliceosomal complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RBM42 Gene

RNA binding>gg> motif protein 42

Enables RNA binding>gg> activity. Predicted to be involved in mRNA splicing>gg>, via spliceosome. Predicted to act upstream of or within neg>gg>ative reg>gg>ulation of mRNA splicing>gg>, via spliceosome. Part of U4/U6 x U5 tri-snRNP complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RBM43 Gene

RNA binding>gg> motif protein 43

Predicted to enable RNA binding>gg> activity. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RBM44 Gene

RNA binding>gg> motif protein 44

Predicted to enable mRNA 3'-UTR binding>gg> activity and protein homodimerization activity. Predicted to be involved in mRNA splicing>gg>, via spliceosome. Predicted to be located in cytoplasm and intercellular bridg>gg>e. Predicted to be part of catalytic step 2 spliceosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RBM45 Gene

RNA binding>gg> motif protein 45

This g>gg>ene encodes a member of the RNA recog>gg>nition motif (RRM)-type RNA-binding>gg> family of proteins. This protein exhibits preferential binding>gg> to poly(C) RNA. Initial cloning>gg> of this g>gg>ene found that the rat ortholog>gg> was dynamically expressed in the developing>gg> rat brain. This protein has been localized to inclusion bodies in the brain and spinal cord of amyotrophic lateral sclerosis and Alzheimer's patients. A pseudog>gg>ene has been identified on chromosome 8. [provided by RefSeq, Feb 2015]

RBM46 Gene

RNA binding>gg> motif protein 46

Predicted to enable mRNA binding>gg> activity. Predicted to be involved in several processes, including>gg> cell cycle switching>gg>, mitotic to meiotic cell cycle; meiotic nuclear division; and spermatid differentiation. Predicted to act upstream of or within mRNA stabilization and trophectodermal cell differentiation. Predicted to be located in cytoplasm. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RBM47 Gene

RNA binding>gg> motif protein 47

Enables enzyme binding>gg> activity; enzyme-substrate adaptor activity; and mRNA 3'-UTR binding>gg> activity. Involved in cytidine to uridine editing>gg>; positive reg>gg>ulation of type I interferon-mediated sig>gg>naling>gg> pathway; and reg>gg>ulation of mRNA metabolic process. Located in cytoplasm and nucleus. Part of apolipoprotein B mRNA editing>gg> enzyme complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RBM48 Gene

RNA binding>gg> motif protein 48

Predicted to enable RNA binding>gg> activity. Predicted to be involved in RNA splicing>gg> and mRNA processing>gg>. Located in nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC101060689 Gene

protein FAM115C-like

RPL7AP37 Gene

ribosomal protein L7a pseudog>gg>ene 37

RPL7AP36 Gene

ribosomal protein L7a pseudog>gg>ene 36

RPL7AP35 Gene

ribosomal protein L7a pseudog>gg>ene 35

RPL7AP33 Gene

ribosomal protein L7a pseudog>gg>ene 33

RPL7AP32 Gene

ribosomal protein L7a pseudog>gg>ene 32

RPL7AP31 Gene

ribosomal protein L7a pseudog>gg>ene 31

RPL7AP30 Gene

ribosomal protein L7a pseudog>gg>ene 30

RPL7AP39 Gene

ribosomal protein L7a pseudog>gg>ene 39

RPL7AP38 Gene

ribosomal protein L7a pseudog>gg>ene 38

PPM1g>Gg> Gene

protein phosphatase, Mg>gg>2+/Mn2+ dependent, 1g>Gg>

The protein encoded by this g>gg>ene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be neg>gg>ative reg>gg>ulators of cell stress response pathways. This phosphatase is found to be responsible for the dephosphorylation of Pre-mRNA splicing>gg> factors, which is important for the formation of functional spliceosome. Studies of a similar g>gg>ene in mice sug>gg>g>gg>ested a role of this phosphatase in reg>gg>ulating>gg> cell cycle prog>gg>ression. [provided by RefSeq, Apr 2010]

PPM1F Gene

protein phosphatase, Mg>gg>2+/Mn2+ dependent, 1F

The protein encoded by this g>gg>ene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be neg>gg>ative reg>gg>ulators of cell stress response pathways. This phosphatase can interact with Rho g>gg>uanine nucleotide exchang>gg>e factors (PIX), and thus block the effects of p21-activated kinase 1 (PAK), a protein kinase mediating>gg> biolog>gg>ical effects downstream of Rho g>Gg>TPases. Calcium/calmodulin-dependent protein kinase II g>gg>amma (CAMK2g>Gg>/CAMK-II) is found to be one of the substrates of this phosphatase. The overexpression of this phosphatase or CAMK2g>Gg> has been shown to mediate caspase-dependent apoptosis. An alternatively spliced transcript variant has been identified, but its full-leng>gg>th nature has not been determined. [provided by RefSeq, Jul 2008]

PPM1E Gene

protein phosphatase, Mg>gg>2+/Mn2+ dependent, 1E

This g>gg>ene encodes a member of the PPM family of serine/threonine-protein phosphatases. The encoded protein is localized to the nucleus and dephosphorylates and inactivates multiple substrates including>gg> serine/threonine-protein kinase PAK 1, 5'-AMP-activated protein kinase (AMPK) and the multifunctional calcium/calmodulin-dependent protein kinases. Alternatively spliced transcript variants have been observed for this g>gg>ene. [provided by RefSeq, May 2012]

PPM1D Gene

protein phosphatase, Mg>gg>2+/Mn2+ dependent, 1D

The protein encoded by this g>gg>ene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be neg>gg>ative reg>gg>ulators of cell stress response pathways. The expression of this g>gg>ene is induced in a p53-dependent manner in response to various environmental stresses. While being>gg> induced by tumor suppressor protein TP53/p53, this phosphatase neg>gg>atively reg>gg>ulates the activity of p38 MAP kinase, MAPK/p38, throug>gg>h which it reduces the phosphorylation of p53, and in turn suppresses p53-mediated transcription and apoptosis. This phosphatase thus mediates a feedback reg>gg>ulation of p38-p53 sig>gg>naling>gg> that contributes to g>gg>rowth inhibition and the suppression of stress induced apoptosis. This g>gg>ene is located in a chromosomal reg>gg>ion known to be amplified in breast cancer. The amplification of this g>gg>ene has been detected in both breast cancer cell line and primary breast tumors, which sug>gg>g>gg>ests a role of this g>gg>ene in cancer development. [provided by RefSeq, Jul 2008]

PPM1B Gene

protein phosphatase, Mg>gg>2+/Mn2+ dependent, 1B

The protein encoded by this g>gg>ene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be neg>gg>ative reg>gg>ulators of cell stress response pathways. This phosphatase has been shown to dephosphorylate cyclin-dependent kinases (CDKs), and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to cause cell-g>gg>rowth arrest or cell death. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. Additional transcript variants have been described, but currently do not represent full-leng>gg>th sequences. [provided by RefSeq, Jul 2008]

PPM1A Gene

protein phosphatase, Mg>gg>2+/Mn2+ dependent, 1A

The protein encoded by this g>gg>ene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be neg>gg>ative reg>gg>ulators of cell stress response pathways. This phosphatase dephosphorylates, and neg>gg>atively reg>gg>ulates the activities of, MAP kinases and MAP kinase kinases. It has been shown to inhibit the activation of p38 and JNK kinase cascades induced by environmental stresses. This phosphatase can also dephosphorylate cyclin-dependent kinases, and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to activate the expression of the tumor suppressor g>gg>ene TP53/p53, which leads to g>Gg>2/M cell cycle arrest and apoptosis. Three alternatively spliced transcript variants encoding>gg> distinct isoforms have been described. [provided by RefSeq, Jul 2008]

PPM1N Gene

protein phosphatase, Mg>gg>2+/Mn2+ dependent, 1N (putative)

Predicted to enable protein serine/threonine phosphatase activity. Predicted to be involved in positive reg>gg>ulation of canonical Wnt sig>gg>naling>gg> pathway and reg>gg>ulation of canonical NF-kappaB sig>gg>nal transduction. Predicted to be active in cytosol and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PPM1M Gene

protein phosphatase, Mg>gg>2+/Mn2+ dependent, 1M

Predicted to enable [pyruvate dehydrog>gg>enase (acetyl-transferring>gg>)]-phosphatase activity and mang>gg>anese ion binding>gg> activity. Predicted to be involved in protein dephosphorylation and sig>gg>nal transduction. Predicted to be located in nucleus. Predicted to be active in mitochondrion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PPM1L Gene

protein phosphatase, Mg>gg>2+/Mn2+ dependent, 1L

The protein encoded by this g>gg>ene is a mag>gg>nesium or mang>gg>anese-requiring>gg> phosphatase that is involved in several sig>gg>naling>gg> pathways. The encoded protein downreg>gg>ulates apoptosis sig>gg>nal-reg>gg>ulating>gg> kinase 1, a protein that initiates a sig>gg>naling>gg> cascade that leads to apoptosis when cells are subjected to cytotoxic stresses. This protein also is an endoplasmic reticulum transmembrane protein that helps reg>gg>ulate ceramide transport from the endoplasmic reticulum to the g>Gg>olg>gg>i apparatus. Finally, this g>gg>ene may be involved in adiposity since it is upreg>gg>ulated in adipose tissues. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Dec 2015]

PPM1K Gene

protein phosphatase, Mg>gg>2+/Mn2+ dependent, 1K

This g>gg>ene encodes a member of the PPM family of Mn2+/Mg>gg>2+-dependent protein phosphatases. The encoded protein, essential for cell survival and development, is targ>gg>eted to the mitochondria where it plays a key role in reg>gg>ulation of the mitochondrial permeability transition pore. [provided by RefSeq, Sep 2012]

PPM1J Gene

protein phosphatase, Mg>gg>2+/Mn2+ dependent, 1J

This g>gg>ene encodes the serine/threonine protein phosphatase. The mouse homolog>gg> of this g>gg>ene apparently belong>gg>s to the protein phosphatase 2C family of g>gg>enes. The exact function of this g>gg>ene is not yet known. [provided by RefSeq, Jul 2008]

PPM1H Gene

protein phosphatase, Mg>gg>2+/Mn2+ dependent, 1H

Enables identical protein binding>gg> activity and phosphoprotein phosphatase activity. Predicted to be involved in sig>gg>nal transduction. Located in cytoplasm and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KPRP Gene

keratinocyte proline-rich protein

This g>gg>ene encodes a proline-rich skin protein possibly involved in keratinocyte differentiation. [provided by RefSeq, Jul 2016]

Mg>Gg>C10814 Gene

uncharacterized protein Mg>Gg>C10814

ZNF402P Gene

zinc fing>gg>er protein 402, pseudog>gg>ene

RPL10AP8 Gene

ribosomal protein L10a pseudog>gg>ene 8

RPL10AP9 Gene

ribosomal protein L10a pseudog>gg>ene 9

RPL10AP2 Gene

ribosomal protein L10a pseudog>gg>ene 2

RPL10AP3 Gene

ribosomal protein L10a pseudog>gg>ene 3

RPL10AP1 Gene

ribosomal protein L10a pseudog>gg>ene 1

RPL10AP6 Gene

ribosomal protein L10a pseudog>gg>ene 6

RPL10AP7 Gene

ribosomal protein L10a pseudog>gg>ene 7

RPL10AP4 Gene

ribosomal protein L10a pseudog>gg>ene 4

RPL10AP5 Gene

ribosomal protein L10a pseudog>gg>ene 5

LOC101928021 Gene

formin-like protein 18

KRTAP15-1 Gene

keratin associated protein 15-1

Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PP2D1 Gene

protein phosphatase 2C-like domain containing>gg> 1

Predicted to enable protein serine/threonine phosphatase activity. Predicted to be involved in sig>gg>nal transduction. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF861P Gene

zinc fing>gg>er protein 861, pseudog>gg>ene

Predicted to enable DNA-binding>gg> transcription factor activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PPP1CB Gene

protein phosphatase 1, catalytic subunit, beta isozyme

The protein encoded by this g>gg>ene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/threonine specific protein phosphatase known to be involved in the reg>gg>ulation of a variety of cellular processes, such as cell division, g>gg>lycog>gg>en metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Mouse studies sug>gg>g>gg>est that PP1 functions as a suppressor of learning>gg> and memory. Two alternatively spliced transcript variants encoding>gg> distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

PPP1CC Gene

protein phosphatase 1, catalytic subunit, g>gg>amma isozyme

The protein encoded by this g>gg>ene belong>gg>s to the protein phosphatase family, PP1 subfamily. PP1 is an ubiquitous serine/threonine phosphatase that reg>gg>ulates many cellular processes, including>gg> cell division. It is expressed in mammalian cells as three closely related isoforms, alpha, beta/delta and g>gg>amma, which have distinct localization patterns. This g>gg>ene encodes the g>gg>amma isozyme. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Oct 2011]

PPP1CA Gene

protein phosphatase 1, catalytic subunit, alpha isozyme

The protein encoded by this g>gg>ene is one of the three catalytic subunits of protein phosphatase 1 (PP1). This broadly expressed g>gg>ene encodes the alpha subunit of the PP1 complex that associates with over 200 reg>gg>ulatory proteins to form holoenzymes which dephosphorylate their biolog>gg>ical targ>gg>ets with hig>gg>h specificity. PP1 is a serine/threonine specific protein phosphatase known to be involved in the reg>gg>ulation of a variety of cellular processes, such as cell division, g>gg>lycog>gg>en metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Increased PP1 activity has been observed in the end stag>gg>e of heart failure. Studies sug>gg>g>gg>est that PP1 is an important reg>gg>ulator of cardiac function and that PP1 dereg>gg>ulation is implicated in diabetes and multiple types of cancer. Three alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2020]

RPL36AP48 Gene

ribosomal protein L36a pseudog>gg>ene 48

LOC100288962 Gene

S-phase kinase-associated protein 1 pseudog>gg>ene

ZNF460 Gene

zinc fing>gg>er protein 460

Zinc fing>gg>er proteins, such as ZNF272, interact with nucleic acids and have diverse functions. The zinc fing>gg>er domain is a conserved amino acid sequence motif containing>gg> 2 specifically positioned cysteines and 2 histidines that are involved in coordinating>gg> zinc. Kruppel-related proteins form 1 family of zinc fing>gg>er proteins. See ZFP93 (MIM 604749) for additional information on zinc fing>gg>er proteins.[supplied by OMIM, May 2004]

PPP1R16A Gene

protein phosphatase 1, reg>gg>ulatory subunit 16A

Myosin lig>gg>ht chain kinase and phosphatase (MLCP) complexes control the phosphorylation states of reg>gg>ulatory myosin lig>gg>ht chains, which is crucial for muscle and intracellular movement. MLCPs typically contain a catalytic protein phosphatase 1 (PP1c) subunit, a myosin phosphatase targ>gg>eting>gg> (MYPT) subunit, and another smaller subunit. The protein encoded by this g>gg>ene represents an MYPT subunit, which is responsible for directing>gg> PP1c to its intended targ>gg>ets. However, while the phosphorylation of other MYPT members results in PP1c inactivation, phosphorylation of the encoded protein by protein kinase A results in PP1c activation. [provided by RefSeq, Jan 2020]

PPP1R16B Gene

protein phosphatase 1, reg>gg>ulatory subunit 16B

The protein encoded by this g>gg>ene is membrane-associated and contains five ankyrin repeats, a protein phosphatase-1-interacting>gg> domain, and a carboxy-terminal CAAX box domain. Synthesis of the encoded protein is inhibited by transforming>gg> g>gg>rowth factor beta-1. The protein may bind to the membrane throug>gg>h its CAAX box domain and may act as a sig>gg>naling>gg> molecule throug>gg>h interaction with protein phosphatase-1. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms that may underg>gg>o similar processing>gg> to g>gg>enerate mature protein. [provided by RefSeq, Sep 2015]

PPP2CA Gene

protein phosphatase 2, catalytic subunit, alpha isozyme

This g>gg>ene encodes the phosphatase 2A catalytic subunit. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the neg>gg>ative control of cell g>gg>rowth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant reg>gg>ulatory subunit, that associates with a variety of reg>gg>ulatory subunits. This g>gg>ene encodes an alpha isoform of the catalytic subunit. [provided by RefSeq, Jul 2008]

PPP2CB Gene

protein phosphatase 2, catalytic subunit, beta isozyme

This g>gg>ene encodes the phosphatase 2A catalytic subunit. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the neg>gg>ative control of cell g>gg>rowth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant reg>gg>ulatory subunit, that associates with a variety of reg>gg>ulatory subunits. This g>gg>ene encodes a beta isoform of the catalytic subunit. [provided by RefSeq, Mar 2010]

SRPX Gene

sushi-repeat containing>gg> protein, X-linked

Predicted to be an extracellular matrix structural constituent. Predicted to be involved in phag>gg>olysosome assembly. Predicted to act upstream of or within several processes, including>gg> neg>gg>ative reg>gg>ulation of cell proliferation involved in contact inhibition; positive reg>gg>ulation of extrinsic apoptotic sig>gg>naling>gg> pathway in absence of lig>gg>and; and response to endoplasmic reticulum stress. Located in collag>gg>en-containing>gg> extracellular matrix. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

VPS72 Gene

vacuolar protein sorting>gg> 72 homolog>gg> (S. cerevisiae)

The protein encoded by this g>gg>ene is a shared subunit of two multi-component complexes, the histone acetyltransferase complex TRRAP/TIP60 as well as the chromatin remodeling>gg> SRCAP-containing>gg> complex. The TRRAP/TIP60 complex acetylates nucleosomal histones important for transcriptional reg>gg>ulation, double strand DNA break repair and apoptosis. The SRCAP-containing>gg> complex catalyzes the exchang>gg>e of histone H2A with the histone variant Htz1 (H2AFZ) into nucleosomes. This protein may be responsible for binding>gg> H2AFZ, which has a role in chromosome seg>gg>reg>gg>ation. This protein may also have a role in reg>gg>ulating>gg> long>gg>-term hematopoietic stem cell activity. Alternative splicing>gg> results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug>gg> 2012]

RPA2P1 Gene

replication protein A2 pseudog>gg>ene 1

RPL26P29 Gene

ribosomal protein L26 pseudog>gg>ene 29

RPA2P3 Gene

replication protein A2 pseudog>gg>ene 3

RPA2P2 Gene

replication protein A2 pseudog>gg>ene 2

RPL26P24 Gene

ribosomal protein L26 pseudog>gg>ene 24

RPL26P25 Gene

ribosomal protein L26 pseudog>gg>ene 25

RPL26P26 Gene

ribosomal protein L26 pseudog>gg>ene 26

RPL26P20 Gene

ribosomal protein L26 pseudog>gg>ene 20

RPL26P21 Gene

ribosomal protein L26 pseudog>gg>ene 21

RPL26P22 Gene

ribosomal protein L26 pseudog>gg>ene 22

RPL26P23 Gene

ribosomal protein L26 pseudog>gg>ene 23

CASKIN2 Gene

CASK interacting>gg> protein 2

This g>gg>ene encodes a larg>gg>e protein that contains six ankyrin repeats, as well as a Src homolog>gg>y 3 (SH3) domain and two sterile alpha motif (SAM) domains, which may be involved in protein-protein interactions. The C-terminal portion of this protein is proline-rich and contains a conserved reg>gg>ion. A related protein interacts with calcium/calmodulin-dependent serine protein kinase (CASK). Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Mar 2013]

CASKIN1 Gene

CASK interacting>gg> protein 1

Enables identical protein binding>gg> activity. Predicted to be involved in sig>gg>nal transduction. Predicted to be active in cytoplasm; g>gg>lutamaterg>gg>ic synapse; and postsynapse. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CRIP1P4 Gene

cysteine-rich protein 1 (intestinal) pseudog>gg>ene 4

CRIP1P2 Gene

cysteine-rich protein 1 (intestinal) pseudog>gg>ene 2

RPL14P3 Gene

ribosomal protein L14 pseudog>gg>ene 3

TMEM30C Gene

transmembrane protein 30C

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL14P1 Gene

ribosomal protein L14 pseudog>gg>ene 1

RPL14P4 Gene

ribosomal protein L14 pseudog>gg>ene 4

RPL14P5 Gene

ribosomal protein L14 pseudog>gg>ene 5

LINC01017 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1017

NDFIP1P1 Gene

Nedd4 family interacting>gg> protein 1 pseudog>gg>ene 1

HIVEP1 Gene

human immunodeficiency virus type I enhancer binding>gg> protein 1

This g>gg>ene encodes a transcription factor belong>gg>ing>gg> to the ZAS family, members of which are larg>gg>e proteins that contain a ZAS domain - a modular protein structure consisting>gg> of a pair of C2H2 zinc fing>gg>ers with an acidic-rich reg>gg>ion and a serine/threonine-rich sequence. These proteins bind specifically to the DNA sequence motif, g>Gg>g>Gg>g>Gg>ACTTTCC, found in the enhancer elements of several viral promoters, including>gg> human immunodeficiency virus (HIV), and to related sequences found in the enhancer elements of a number of cellular promoters. This protein binds to this sequence motif, sug>gg>g>gg>esting>gg> a role in the transcriptional reg>gg>ulation of both viral and cellular g>gg>enes. [provided by RefSeq, Oct 2011]

HIVEP2 Gene

human immunodeficiency virus type I enhancer binding>gg> protein 2

This g>gg>ene encodes a member of a family of closely related, larg>gg>e, zinc fing>gg>er-containing>gg> transcription factors. The encoded protein reg>gg>ulates transcription by binding>gg> to reg>gg>ulatory reg>gg>ions of various cellular and viral g>gg>enes that maybe involved in g>gg>rowth, development and metastasis. The protein contains the ZAS domain comprised of two widely separated reg>gg>ions of zinc fing>gg>er motifs, a stretch of hig>gg>hly acidic amino acids and a serine/threonine-rich sequence. [provided by RefSeq, Nov 2012]

HIVEP3 Gene

human immunodeficiency virus type I enhancer binding>gg> protein 3

This g>gg>ene encodes a member of the human immunodeficiency virus type 1 enhancer-binding>gg> protein family. Members of this protein family contain multiple zinc fing>gg>er and acid-rich (ZAS) domains and serine-threonine rich reg>gg>ions. This protein acts as a transcription factor and is able to reg>gg>ulate nuclear factor kappaB-mediated transcription by binding>gg> the kappaB motif in targ>gg>et g>gg>enes. This protein also binds the recombination sig>gg>nal sequence that flanks the V, D, and J reg>gg>ions of immunog>gg>lobulin and T-cell g>receptorg>s. Alternate splicing>gg> results in both coding>gg> and non-coding>gg> transcript variants. [provided by RefSeq, Sep 2011]

MRPL30P1 Gene

mitochondrial ribosomal protein L30 pseudog>gg>ene 1

MRPL30P2 Gene

mitochondrial ribosomal protein L30 pseudog>gg>ene 2

LOC642131 Gene

putative V-set and immunog>gg>lobulin domain-containing>gg>-like protein Ig>Gg>HV4OR15-8

OOSP1 Gene

oocyte secreted protein 1, pseudog>gg>ene

Predicted to act upstream of or within blastocyst development. Predicted to be located in extracellular reg>gg>ion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OOSP2 Gene

oocyte secreted protein 2

Involved in oocyte maturation. Predicted to be located in g>gg>erminal vesicle. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL9P13 Gene

ribosomal protein L9 pseudog>gg>ene 13

RPL23AP78 Gene

ribosomal protein L23a pseudog>gg>ene 78

HCP5B Gene

HLA complex P5B (non-protein coding>gg>)

LOC729217 Gene

emopamil binding>gg> protein-like pseudog>gg>ene

RPL23AP71 Gene

ribosomal protein L23a pseudog>gg>ene 71

RPL23AP72 Gene

ribosomal protein L23a pseudog>gg>ene 72

RPL23AP73 Gene

ribosomal protein L23a pseudog>gg>ene 73

CD3EAP Gene

CD3e molecule, epsilon associated protein

Enables RNA binding>gg> activity. Involved in transcription initiation at RNA polymerase I promoter. Located in cytosol; mitochondrion; and nuclear lumen. Part of RNA polymerase I complex. Implicated in multiple myeloma. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS10P27 Gene

ribosomal protein S10 pseudog>gg>ene 27

ARHg>Gg>AP17 Gene

Rho g>Gg>TPase activating>gg> protein 17

RICH1 is a g>Gg>TPase-activating>gg> protein (g>Gg>AP). g>Gg>APs stimulate the intrinsic g>Gg>TP hydrolysis of small g>Gg> proteins, such as RHOA (MIM 165390), RAC1 (MIM 602048), and CDC42 (MIM 116952).[supplied by OMIM, Apr 2004]

ARHg>Gg>AP15 Gene

Rho g>Gg>TPase activating>gg> protein 15

RHO g>Gg>TPases (see ARHA; MIM 165390) reg>gg>ulate diverse biolog>gg>ic processes, and their activity is reg>gg>ulated by RHO g>Gg>TPase-activating>gg> proteins (g>Gg>APs), such as ARHg>Gg>AP15 (Seoh et al., 2003 [PubMed 12650940]).[supplied by OMIM, Mar 2008]

ARHg>Gg>AP12 Gene

Rho g>Gg>TPase activating>gg> protein 12

This g>gg>ene encodes a member of a larg>gg>e family of proteins that activate Rho-type g>gg>uanosine triphosphate (g>Gg>TP) metabolizing>gg> enzymes. The encoded protein may be involved in suppressing>gg> tumor formation by reg>gg>ulating>gg> cell invasion and adhesion. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Jul 2012]

ARHg>Gg>AP10 Gene

Rho g>Gg>TPase activating>gg> protein 10

Predicted to enable g>Gg>TPase activator activity. Predicted to be involved in cytoskeleton org>gg>anization and neg>gg>ative reg>gg>ulation of apoptotic process. Located in cytosol and endosome membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ARHg>Gg>AP18 Gene

Rho g>Gg>TPase activating>gg> protein 18

Enables g>Gg>TPase activator activity. Involved in several processes, including>gg> reg>gg>ulation of actin filament polymerization; reg>gg>ulation of small g>Gg>TPase mediated sig>gg>nal transduction; and small g>Gg>TPase-mediated sig>gg>nal transduction. Located in cytosol; nuclear speck; and plasma membrane. Part of cytoplasmic microtubule and ruffle. Implicated in schizophrenia. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ARHg>Gg>AP19 Gene

Rho g>Gg>TPase activating>gg> protein 19

Members of the ARHg>Gg>AP family, such as ARHg>Gg>AP19, encode neg>gg>ative reg>gg>ulators of Rho g>Gg>TPases (see RHOA; MIM 165390), which are involved in cell mig>gg>ration, proliferation, and differentiation, actin remodeling>gg>, and g>Gg>1 cell cycle prog>gg>ression (Lv et al., 2007 [PubMed 17454002]).[supplied by OMIM, Mar 2008]

LOC102724991 Gene

serine/threonine-protein phosphatase 2A reg>gg>ulatory subunit B'' subunit beta

RINg>Gg>1 Gene

ring>gg> fing>gg>er protein 1

This g>gg>ene belong>gg>s to the RINg>Gg> fing>gg>er family, members of which encode proteins characterized by a RINg>Gg> domain, a zinc-binding>gg> motif related to the zinc fing>gg>er domain. The g>gg>ene product can bind DNA and can act as a transcriptional repressor. It is associated with the multimeric polycomb g>gg>roup protein complex. The g>gg>ene product interacts with the polycomb g>gg>roup proteins BMI1, EDR1, and CBX4, and colocalizes with these proteins in larg>gg>e nuclear domains. It interacts with the CBX4 protein via its g>gg>lycine-rich C-terminal domain. The g>gg>ene maps to the HLA class II reg>gg>ion, where it is contig>gg>uous with the RINg>Gg> fing>gg>er g>gg>enes FABg>Gg>L and HKE4. [provided by RefSeq, Jul 2008]

CDY7P Gene

chromodomain protein, Y-linked 7 pseudog>gg>ene

LOC102724994 Gene

putative POM121-like protein 1-like

LOC105369215 Gene

putative uncharacterized protein LOC388882

RPS10P21 Gene

ribosomal protein S10 pseudog>gg>ene 21

ZNF124 Gene

zinc fing>gg>er protein 124

This g>gg>ene encodes a protein with an amino-terminal KRAB-A box and multiple repeated Kruppel-type (C2H2) zinc fing>gg>er motifs at its carboxy terminus. The encoded protein may function as a transcription factor. Expression of this g>gg>ene is increased after vascular endothelial g>gg>rowth factor (VEg>Gg>F) stimulation in human leukemia cell lines and results in inhibition of apoptotic cell death induced by irradiation or exposure to etoposide. Alternative splicing>gg> results in multiple transcript variants encoding>gg> distinct proteins. [provided by RefSeq, Jul 2014]

ZNF121 Gene

zinc fing>gg>er protein 121

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF736P6Y Gene

zinc fing>gg>er protein 736 pseudog>gg>ene 6, Y-linked

ARFIP1 Gene

ADP-ribosylation factor interacting>gg> protein 1

Enables phosphatidylinositol-4-phosphate binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of retrog>gg>rade transport, endosome to g>Gg>olg>gg>i. Acts upstream of or within intracellular protein transport and reg>gg>ulation of protein secretion. Located in g>Gg>olg>gg>i membrane; cytosol; and trans-g>Gg>olg>gg>i network membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ARFIP2 Gene

ADP-ribosylation factor interacting>gg> protein 2

Enables several functions, including>gg> g>Gg>TP-dependent protein binding>gg> activity; membrane curvature sensor activity; and phosphatidylinositol-4-phosphate binding>gg> activity. Involved in actin cytoskeleton org>gg>anization; mitophag>gg>y; and protein localization to phag>gg>ophore assembly site. Located in several cellular components, including>gg> nucleolus; ruffle; and trans-g>Gg>olg>gg>i network membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FLJ44477 Gene

FLJ44477 protein

LOC101928596 Gene

probable tumor suppressor protein MN1

LOC101928592 Gene

zinc fing>gg>er protein OZF-like

RPS10P22 Gene

ribosomal protein S10 pseudog>gg>ene 22

LOC101928041 Gene

ankyrin repeat domain-containing>gg> protein 20A2-like

Fg>Gg>FBP3 Gene

fibroblast g>gg>rowth factor binding>gg> protein 3

Enables fibroblast g>gg>rowth factor binding>gg> activity and heparin binding>gg> activity. Acts upstream of or within positive reg>gg>ulation of fibroblast g>gg>rowth factor g>receptorg> sig>gg>naling>gg> pathway and positive reg>gg>ulation of vascular permeability. Located in extracellular reg>gg>ion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

Fg>Gg>FBP2 Gene

fibroblast g>gg>rowth factor binding>gg> protein 2

This g>gg>ene encodes a member of the fibroblast g>gg>rowth factor binding>gg> protein family. The encoded protein is a serum protein that is selectively secreted by cytotoxic lymphocytes and may be involved in cytotoxic lymphocyte-mediated immunity. An increase in the amount of g>gg>ene product may be associated with atopic asthma and mild extrinsic asthma.[provided by RefSeq, Jan 2025]

Fg>Gg>FBP1 Gene

fibroblast g>gg>rowth factor binding>gg> protein 1

This g>gg>ene encodes a secreted fibroblast g>gg>rowth factor carrier protein. The encoded protein plays a critical role in cell proliferation, differentiation and mig>gg>ration by binding>gg> to fibroblast g>gg>rowth factors and potentiating>gg> their biolog>gg>ical effects on targ>gg>et cells. The encoded protein may also play a role in tumor g>gg>rowth as an ang>gg>iog>gg>enic switch molecule, and expression of this g>gg>ene has been associated with several types of cancer including>gg> pancreatic and colorectal adenocarcinoma. A pseudog>gg>ene of this g>gg>ene is also located on the short arm of chromosome 4. [provided by RefSeq, Nov 2011]

LOC101928044 Gene

zinc fing>gg>er CCHC domain-containing>gg> protein 9 pseudog>gg>ene

LOC102725091 Gene

circumsporozoite protein-like

RPL13AP13 Gene

ribosomal protein L13a pseudog>gg>ene 13

RPL13AP12 Gene

ribosomal protein L13a pseudog>gg>ene 12

RPL13AP11 Gene

ribosomal protein L13a pseudog>gg>ene 11

RPL13AP10 Gene

ribosomal protein L13a pseudog>gg>ene 10

RPL13AP16 Gene

ribosomal protein L13a pseudog>gg>ene 16

RPL13AP15 Gene

ribosomal protein L13a pseudog>gg>ene 15

RPL13AP14 Gene

ribosomal protein L13a pseudog>gg>ene 14

ZNF736P10Y Gene

zinc fing>gg>er protein 736 pseudog>gg>ene 10, Y-linked

HSBP1 Gene

heat shock factor binding>gg> protein 1

The heat-shock response is elicited by exposure of cells to thermal and chemical stress and throug>gg>h the activation of HSFs (heat shock factors) results in the elevated expression of heat-shock induced g>gg>enes. Heat shock factor binding>gg> protein 1 (HSBP1), is a 76-amino-acid protein that binds to heat shock factor 1(HSF1), which is a transcription factor involved in the HS response. During>gg> HS response, HSF1 underg>gg>oes conformational transition from an inert non-DNA-binding>gg> monomer to active functional trimers. HSBP1 is nuclear-localized and interacts with the active trimeric state of HSF1 to neg>gg>atively reg>gg>ulate HSF1 DNA-binding>gg> activity. Overexpression of HSBP1 in mammalian cells represses the transactivation activity of HSF1. When overexpressed in C.eleg>gg>ans HSBP1 has severe effects on survival of the animals after thermal and chemical stress consistent with a role of HSBP1 as a neg>gg>ative reg>gg>ulator of heat shock response. [provided by RefSeq, Jul 2008]

PABPC1L2B Gene

poly(A) binding>gg> protein, cytoplasmic 1-like 2B

Predicted to enable mRNA 3'-UTR binding>gg> activity; poly(A) binding>gg> activity; and poly(U) RNA binding>gg> activity. Located in extracellular exosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PABPC1L2A Gene

poly(A) binding>gg> protein, cytoplasmic 1-like 2A

Predicted to enable mRNA 3'-UTR binding>gg> activity; poly(A) binding>gg> activity; and poly(U) RNA binding>gg> activity. Located in extracellular exosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105379766 Gene

small nuclear ribonucleoprotein-associated protein N-like

RPS26P18 Gene

ribosomal protein S26 pseudog>gg>ene 18

RPS26P19 Gene

ribosomal protein S26 pseudog>gg>ene 19

RPS26P14 Gene

ribosomal protein S26 pseudog>gg>ene 14

RPS26P15 Gene

ribosomal protein S26 pseudog>gg>ene 15

RPS26P16 Gene

ribosomal protein S26 pseudog>gg>ene 16

RPS26P17 Gene

ribosomal protein S26 pseudog>gg>ene 17

RPS26P10 Gene

ribosomal protein S26 pseudog>gg>ene 10

RPS26P11 Gene

ribosomal protein S26 pseudog>gg>ene 11

Predicted to enable mRNA binding>gg> activity. Predicted to be a structural constituent of ribosome. Predicted to be involved in translation. Predicted to be located in cytosolic ribosome. Predicted to be part of cytosolic small ribosomal subunit. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS26P12 Gene

ribosomal protein S26 pseudog>gg>ene 12

RPS26P13 Gene

ribosomal protein S26 pseudog>gg>ene 13

TNAP Gene

TRAFs and NIK-associated protein

RPS16P9 Gene

ribosomal protein S16 pseudog>gg>ene 9

BNIP3P8 Gene

BCL2/adenovirus E1B 19kDa interacting>gg> protein 3 pseudog>gg>ene 8

BNIP3P5 Gene

BCL2/adenovirus E1B 19kDa interacting>gg> protein 3 pseudog>gg>ene 5

BNIP3P4 Gene

BCL2/adenovirus E1B 19kDa interacting>gg> protein 3 pseudog>gg>ene 4

BNIP3P6 Gene

BCL2/adenovirus E1B 19kDa interacting>gg> protein 3 pseudog>gg>ene 6

BNIP3P1 Gene

BCL2/adenovirus E1B 19kDa interacting>gg> protein 3 pseudog>gg>ene 1

BNIP3P3 Gene

BCL2/adenovirus E1B 19kDa interacting>gg> protein 3 pseudog>gg>ene 3

BNIP3P2 Gene

BCL2/adenovirus E1B 19kDa interacting>gg> protein 3 pseudog>gg>ene 2

PACSIN1 Gene

protein kinase C and casein kinase substrate in neurons 1

Enables phospholipid binding>gg> activity. Involved in plasma membrane tubulation. Located in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PACSIN3 Gene

protein kinase C and casein kinase substrate in neurons 3

This g>gg>ene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking>gg> the actin cytoskeleton with vesicle formation. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, May 2010]

PACSIN2 Gene

protein kinase C and casein kinase substrate in neurons 2

This g>gg>ene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking>gg> the actin cytoskeleton with vesicle formation by reg>gg>ulating>gg> tubulin polymerization. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, May 2010]

COPA Gene

coatomer protein complex, subunit alpha

In eukaryotic cells, protein transport between the endoplasmic reticulum and g>Gg>olg>gg>i compartments is mediated in part by non-clathrin-coated vesicular coat proteins (COPs). Seven coat proteins have been identified, and they represent subunits of a complex known as coatomer. The subunits are desig>gg>nated alpha-COP, beta-COP, beta-prime-COP, g>gg>amma-COP, delta-COP, epsilon-COP, and zeta-COP. The alpha-COP, encoded by COPA, shares hig>gg>h sequence similarity with RET1P, the alpha subunit of the coatomer complex in yeast. Also, the N-terminal 25 amino acids of alpha-COP encode the bioactive peptide, xenin, which stimulates exocrine pancreatic secretion and may act as a g>gg>astrointestinal hormone. Alternative splicing>gg> results in multiple splice forms encoding>gg> distinct isoforms. [provided by RefSeq, Jul 2008]

COPE Gene

coatomer protein complex, subunit epsilon

The product of this g>gg>ene is an epsilon subunit of coatomer protein complex. Coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with g>Gg>olg>gg>i non-clathrin-coated vesicles. It is required for budding>gg> from g>Gg>olg>gg>i membranes, and is essential for the retrog>gg>rade g>Gg>olg>gg>i-to-ER transport of dilysine-tag>gg>g>gg>ed proteins. Coatomer complex consists of at least the alpha, beta, beta', g>gg>amma, delta, epsilon and zeta subunits. Alternatively spliced transcript variants encoding>gg> different isoforms have been identified. [provided by RefSeq, Jul 2008]

LOC100128673 Gene

TAF9 RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor, 32kDa pseudog>gg>ene

LINC01247 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1247

LINC01242 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1242

LINC01243 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1243

LOC100506458 Gene

putative uncharacterized protein LOC65996-like

ATF7IP Gene

activating>gg> transcription factor 7 interacting>gg> protein

ATF7IP is a multifunctional nuclear protein that associates with heterochromatin. It can act as a transcriptional coactivator or corepressor depending>gg> upon its binding>gg> partners (summary by Liu et al., 2009 [PubMed 19106100]).[supplied by OMIM, Nov 2010]

LOC729458 Gene

methyl-Cpg>Gg>-binding>gg> domain protein 3-like 2

Predicted to enable methyl-Cpg>Gg> binding>gg> activity. Predicted to be involved in DNA methylation-dependent constitutive heterochromatin formation and neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PWRN4 Gene

Prader-Willi reg>gg>ion non-protein coding>gg> RNA 4

LINC01532 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1532

LINC01533 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1533

LINC01530 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1530

LINC01531 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1531

LINC01537 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1537

LINC01534 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1534

LINC01535 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1535

LINC01538 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1538

LINC01539 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1539

RNF144A Gene

ring>gg> fing>gg>er protein 144A

This g>gg>ene encodes a member of a family of RINg>Gg> fing>gg>er domain-containing>gg> E3 ubiquitin lig>gg>ases that also includes parkin and parc. The expression of this g>gg>ene is induced by DNA damag>gg>e. The encoded protein interacts with the cytoplasmic DNA-dependent protein kinase, catalytic subunit (DNA-PKcs) and promotes its deg>gg>radation throug>gg>h ubiquitination. The ortholog>gg>ous mouse protein has been shown to interact with a ubiquitin-conjug>gg>ating>gg> enzyme involved in embryonic development. [provided by RefSeq, Mar 2017]

LOC727803 Gene

RAN binding>gg> protein 1 pseudog>gg>ene

LOC644060 Gene

Ig>Gg>F-II mRNA-binding>gg> protein 2-like

LOC100420576 Gene

death-associated protein kinase 1 pseudog>gg>ene

WBP1L Gene

WW domain binding>gg> protein 1-like

Predicted to enable ubiquitin protein lig>gg>ase binding>gg> activity. Predicted to be involved in CXCL12-activated CXCR4 sig>gg>naling>gg> pathway. Predicted to act upstream of or within hemopoiesis and positive reg>gg>ulation of protein ubiquitination. Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

WBP11 Gene

WW domain binding>gg> protein 11

This g>gg>ene encodes a nuclear protein, which colocalizes with mRNA splicing>gg> factors and intermediate filament-containing>gg> perinuclear networks. This protein has 95% amino acid sequence identity to the mouse Wbp11 protein. It contains two proline-rich reg>gg>ions that bind to the WW domain of Npw38, a nuclear protein, and thus this protein is also called Npw38-binding>gg> protein NpwBP. The Npw38-NpwBP complex may function as a component of an mRNA factory in the nucleus. [provided by RefSeq, Jul 2008]

PRKRIP1 Gene

PRKR interacting>gg> protein 1 (IL11 inducible)

Predicted to enable double-stranded RNA binding>gg> activity; protein kinase binding>gg> activity; and protein kinase inhibitor activity. Involved in renal system process. Located in extracellular exosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00379 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 379

LINC00371 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 371

LINC00370 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 370

LINC00377 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 377

LINC00376 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 376

LINC00375 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 375

PALLD Gene

palladin, cytoskeletal associated protein

This g>gg>ene encodes a cytoskeletal protein that is required for org>gg>anizing>gg> the actin cytoskeleton. The protein is a component of actin-containing>gg> microfilaments, and it is involved in the control of cell shape, adhesion, and contraction. Polymorphisms in this g>gg>ene are associated with a susceptibility to pancreatic cancer type 1, and also with a risk for myocardial infarction. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Oct 2009]

RBMS1 Gene

RNA binding>gg> motif, sing>gg>le stranded interacting>gg> protein 1

This g>gg>ene encodes a member of a small family of proteins which bind sing>gg>le stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, orig>gg>inally described in RNA binding>gg> proteins, and required for DNA binding>gg>. These proteins have been implicated in such diverse functions as DNA replication, g>gg>ene transcription, cell cycle prog>gg>ression and apoptosis. Several transcript variants, resulting>gg> from alternative splicing>gg> and encoding>gg> different isoforms, have been described. A pseudog>gg>ene for this locus is found on chromosome 12. [provided by RefSeq, Feb 2009]

RBMS3 Gene

RNA binding>gg> motif, sing>gg>le stranded interacting>gg> protein 3

This g>gg>ene encodes an RNA-binding>gg> protein that belong>gg>s to the c-myc g>gg>ene sing>gg>le-strand binding>gg> protein family. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, orig>gg>inally described in RNA binding>gg> proteins, and required for DNA binding>gg>. These proteins have been implicated in such diverse functions as DNA replication, g>gg>ene transcription, cell cycle prog>gg>ression and apoptosis. The encoded protein was isolated by virtue of its binding>gg> to an upstream element of the alpha2(I) collag>gg>en promoter. The observation that this protein localizes mostly in the cytoplasm sug>gg>g>gg>ests that it may be involved in a cytoplasmic function such as controlling>gg> RNA metabolism, rather than transcription. Multiple alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Apr 2010]

RBMS2 Gene

RNA binding>gg> motif, sing>gg>le stranded interacting>gg> protein 2

The protein encoded by this g>gg>ene is a member of a small family of proteins which bind sing>gg>le stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, orig>gg>inally described in RNA binding>gg> proteins, and required for DNA binding>gg>. The RBMS proteins have been implicated in such diverse functions as DNA replication, g>gg>ene transcription, cell cycle prog>gg>ression and apoptosis. This protein was isolated by phenotypic complementation of cdc2 and cdc13 mutants of yeast and is thoug>gg>ht to suppress cdc2 and cdc13 mutants throug>gg>h the induction of translation of cdc2. [provided by RefSeq, Jul 2008]

NPIPB3 Gene

nuclear pore complex interacting>gg> protein family, member B3

Predicted to be located in nuclear envelope. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NPIPB4 Gene

nuclear pore complex interacting>gg> protein family, member B4

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NPIPB7 Gene

nuclear pore complex interacting>gg> protein family, member B7

Predicted to be located in extracellular reg>gg>ion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NPIPB6 Gene

nuclear pore complex interacting>gg> protein family, member B6

NPIPB8 Gene

nuclear pore complex interacting>gg> protein family, member B8

Lg>Gg>SN Gene

leng>gg>sin, lens protein with g>gg>lutamine synthetase domain

This g>gg>ene encodes a protein with similarity to the g>Gg>S I members of the g>gg>lutamine synthetase superfamily. The encoded protein is referred to as a pseudo-g>gg>lutamine synthetase because it has no g>gg>lutamine synthesis activity and may function as a chaperone protein. This protein is localized to the lens and may be associated with cataract disease. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jan 2009]

LOC646030 Gene

leucine-rich repeat-containing>gg> protein 37A2-like

RFXANK Gene

reg>gg>ulatory factor X-associated ankyrin-containing>gg> protein

Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this g>gg>ene, along>gg> with reg>gg>ulatory factor X-associated protein and reg>gg>ulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II g>gg>ene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding>gg> factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II g>gg>ene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this g>gg>ene have been linked to bare lymphocyte syndrome type II, complementation g>gg>roup B. Multiple alternatively spliced transcript variants encoding>gg> different isoforms have been described for this g>gg>ene. [provided by RefSeq, Jul 2013]

TMEM119 Gene

transmembrane protein 119

Involved in positive reg>gg>ulation of bone mineralization; positive reg>gg>ulation of osteoblast differentiation; and positive reg>gg>ulation of osteoblast proliferation. Located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM110 Gene

transmembrane protein 110

Enables calcium channel reg>gg>ulator activity. Involved in activation of store-operated calcium channel activity and store-operated calcium entry. Located in cortical endoplasmic reticulum; endoplasmic reticulum membrane; and endoplasmic reticulum-plasma membrane contact site. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM114 Gene

transmembrane protein 114

This g>gg>ene encodes a g>gg>lycosylated transmembrane protein that plays a role in lens and eye development. Mutations in this g>gg>ene, including>gg> a t(16;22)(p13.3;q11.2) translocation, are associated with cong>gg>enital and juvenile cataract disorders. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants. [provided by RefSeq, Feb 2014]

TMEM115 Gene

transmembrane protein 115

Enables identical protein binding>gg> activity. Involved in retrog>gg>rade vesicle-mediated transport, g>Gg>olg>gg>i to endoplasmic reticulum. Located in g>Gg>olg>gg>i cisterna membrane; g>Gg>olg>gg>i transport complex; and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM116 Gene

transmembrane protein 116

Predicted to be involved in sig>gg>nal transduction. Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM117 Gene

transmembrane protein 117

Involved in intrinsic apoptotic sig>gg>naling>gg> pathway in response to endoplasmic reticulum stress. Located in endoplasmic reticulum and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MPDZ Gene

multiple PDZ domain protein

The protein encoded by this g>gg>ene has multiple PDZ domains, which are hallmarks of protein-protein interactions. The encoded protein is known to interact with the HTR2C g>receptorg> and may cause it to clump at the cell surface. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Aug>gg> 2015]

PMP22 Gene

peripheral myelin protein 22

This g>gg>ene encodes an integ>gg>ral membrane protein that is a major component of myelin in the peripheral nervous system. Studies sug>gg>g>gg>est two alternately used promoters drive tissue-specific expression. Various mutations of this g>gg>ene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2013]

RBPMS Gene

RNA binding>gg> protein with multiple splicing>gg>

This g>gg>ene encodes a member of the RNA recog>gg>nition motif family of RNA-binding>gg> proteins. The RNA recog>gg>nition motif is between 80-100 amino acids in leng>gg>th and family members contain one to four copies of the motif. The RNA recog>gg>nition motif consists of two short stretches of conserved sequence, as well as a few hig>gg>hly conserved hydrophobic residues. The encoded protein has a sing>gg>le, putative RNA recog>gg>nition motif in its N-terminus. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Jun 2013]

SPA17 Gene

sperm autoantig>gg>enic protein 17

This g>gg>ene encodes a protein present at the cell surface. The N-terminus has sequence similarity to human cAMP-dependent protein kinase A (PKA) type II alpha reg>gg>ulatory subunit (RIIa) while the C-terminus has an IQ calmodulin-binding>gg> motif. The central portion of the protein has carbohydrate binding>gg> motifs and likely functions in cell-cell adhesion. The protein was initially characterized by its involvement in the binding>gg> of sperm to the zona pellucida of the oocyte. Recent studies indicate that it is also involved in additional cell-cell adhesion functions such as immune cell mig>gg>ration and metastasis. A retrotransposed pseudog>gg>ene is present on chromosome 10q22.[provided by RefSeq, Jan 2009]

LOC100130026 Gene

ribosomal protein L38 pseudog>gg>ene

CFAP52 Gene

cilia and flag>gg>ella associated protein 52

WD repeat-containing>gg> proteins, such as WDR16, play crucial roles in a wide rang>gg>e of physiolog>gg>ic functions, including>gg> sig>gg>nal transduction, RNA processing>gg>, remodeling>gg> the cytoskeleton, reg>gg>ulation of vesicular traffic, and cell division (Silva et al., 2005 [PubMed 15967112]).[supplied by OMIM, Mar 2008]

ROPN1 Gene

rhophilin associated tail protein 1

The protein encoded by this g>gg>ene is found in the fibrous sheath of spermatazoa, where it interacts with rhophilin, a Rho g>Gg>TPase binding>gg> protein. The encoded protein also can bind an A-kinase anchoring>gg> protein (AKAP110) and a calcium-binding>gg> tyrosine phosphorylation-reg>gg>ulated protein (CABYR). This protein may be involved in sperm motility and has been shown to be a cancer-testis antig>gg>en in hematolog>gg>ic malig>gg>nancies. Several transcript variants, some protein-coding>gg> and some non-protein coding>gg>, have been found for this g>gg>ene. [provided by RefSeq, Dec 2015]

PDPK1 Gene

3-phosphoinositide dependent protein kinase 1

Enables 3-phosphoinositide-dependent protein kinase activity; phospholipase activator activity; and phospholipase binding>gg> activity. Involved in several processes, including>gg> cell surface g>receptorg> sig>gg>naling>gg> pathway; reg>gg>ulation of protein kinase activity; and reg>gg>ulation of sig>gg>nal transduction. Acts upstream of or within intracellular sig>gg>nal transduction. Located in cell projection; cytosol; and plasma membrane. Implicated in prostate cancer. Biomarker of lung>gg> non-small cell carcinoma. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100131080 Gene

ribosomal protein S14 pseudog>gg>ene

ZNF688 Gene

zinc fing>gg>er protein 688

Predicted to enable DNA-binding>gg> transcription factor activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF689 Gene

zinc fing>gg>er protein 689

Enables histone binding>gg> activity. Involved in reg>gg>ulation of transcription by RNA polymerase II. Located in cytoplasm and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF682 Gene

zinc fing>gg>er protein 682

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF683 Gene

zinc fing>gg>er protein 683

Enables RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Involved in T cell g>receptorg> sig>gg>naling>gg> pathway; cellular response to ionomycin; and reg>gg>ulation of g>gg>ene expression. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF680 Gene

zinc fing>gg>er protein 680

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF681 Gene

zinc fing>gg>er protein 681

This g>gg>ene encodes a protein containing>gg> the krueppel associated box (KRAB) and zinc-fing>gg>er domains, which may be involved in transcriptional reg>gg>ulation. Non-functional alleles of this g>gg>ene are present in alternate g>gg>enome assemblies including>gg> T2T-CHM13v1.1, resulting>gg> from a 'Tg>Gg>' deletion (rs61397759) which causes a frameshift and a premature stop codon. [provided by RefSeq, Sep 2022]

ZNF687 Gene

zinc fing>gg>er protein 687

This g>gg>ene encodes C2H2 zinc fing>gg>er protein. The encoded protein may play a role in bone differentiation and development. Mutations in this g>gg>ene are the cause of Pag>gg>et disease of bone-6. Alternate splicing>gg> results in multiple transcript variants. [provided by RefSeq, Sep 2016]

ZNF684 Gene

zinc fing>gg>er protein 684

Enables sequence-specific double-stranded DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to act upstream of or within innate immune response and neg>gg>ative reg>gg>ulation of sing>gg>le stranded viral RNA replication via double stranded DNA intermediate. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100419707 Gene

zinc fing>gg>er protein 41 pseudog>gg>ene

LOC100419704 Gene

zinc fing>gg>er protein 57 pseudog>gg>ene

LINC00707 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 707

LINC00704 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 704

Mg>Gg>C12916 Gene

uncharacterized protein Mg>Gg>C12916

LINC00703 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 703

LOC100286973 Gene

protein phosphatase 1, catalytic subunit, alpha isozyme pseudog>gg>ene

FLJ12425 Gene

uncharacterized protein FLJ12425

ZNF350 Gene

zinc fing>gg>er protein 350

Enables DNA-binding>gg> transcription repressor activity, RNA polymerase II-specific and RNA polymerase II intronic transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II. Located in nuclear body. Part of transcription repressor complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF358 Gene

zinc fing>gg>er protein 358

Predicted to enable DNA-binding>gg> transcription factor activity and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in several processes, including>gg> embryonic forelimb morphog>gg>enesis; neural tube development; and reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SRg>Gg>AP1 Gene

SLIT-ROBO Rho g>Gg>TPase activating>gg> protein 1

The protein encoded by this g>gg>ene is a g>Gg>TPase activator, working>gg> with the g>Gg>TPase CDC42 to neg>gg>atively reg>gg>ulate neuronal mig>gg>ration. The encoded protein interacts with the transmembrane g>receptorg> ROBO1 to inactivate CDC42. [provided by RefSeq, Sep 2016]

SRg>Gg>AP3 Gene

SLIT-ROBO Rho g>Gg>TPase activating>gg> protein 3

Predicted to enable g>Gg>TPase activator activity. Predicted to be involved in neg>gg>ative reg>gg>ulation of cell mig>gg>ration and reg>gg>ulation of postsynapse assembly. Is active in postsynapse. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SRg>Gg>AP2 Gene

SLIT-ROBO Rho g>Gg>TPase activating>gg> protein 2

This locus encodes a member of the SLIT-ROBO Rho g>Gg>TPase activating>gg> protein family. The encoded protein stimulates g>Gg>TPase activity of Rac1, and plays a role in cortical neuron development. This locus has several paralog>gg>s on human chromosome 1 resulting>gg> from seg>gg>mental duplication. While this locus itself is conserved among>gg> various species, the paralog>gg>s are found only in the g>gg>enus Homo, and not in the g>gg>enomes of non-human g>gg>reat apes. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Jul 2014]

RPL31P33 Gene

ribosomal protein L31 pseudog>gg>ene 33

RPL31P32 Gene

ribosomal protein L31 pseudog>gg>ene 32

RPL31P31 Gene

ribosomal protein L31 pseudog>gg>ene 31

RPL31P30 Gene

ribosomal protein L31 pseudog>gg>ene 30

RPL31P36 Gene

ribosomal protein L31 pseudog>gg>ene 36

RPL31P35 Gene

ribosomal protein L31 pseudog>gg>ene 35

RPL31P39 Gene

ribosomal protein L31 pseudog>gg>ene 39

RPL31P38 Gene

ribosomal protein L31 pseudog>gg>ene 38

RPL27P1 Gene

ribosomal protein L27 pseudog>gg>ene 1

RPL27P2 Gene

ribosomal protein L27 pseudog>gg>ene 2

RPL27P3 Gene

ribosomal protein L27 pseudog>gg>ene

RPL27P4 Gene

ribosomal protein L27 pseudog>gg>ene 4

RPL27P5 Gene

ribosomal protein L27 pseudog>gg>ene 5

RPL27P6 Gene

ribosomal protein L27 pseudog>gg>ene 6

RPL27P7 Gene

ribosomal protein L27 pseudog>gg>ene 7

RPL27P8 Gene

ribosomal protein L27 pseudog>gg>ene 8

RPL27P9 Gene

ribosomal protein L27 pseudog>gg>ene 9

STYX Gene

serine/threonine/tyrosine interacting>gg> protein

The protein encoded by this g>gg>ene is a pseudophosphatase, able to bind potential substrates but lacking>gg> an active catalytic loop. The encoded protein may be involved in spermiog>gg>enesis. Two transcript variants encoding>gg> the same protein have been found for these g>gg>enes. [provided by RefSeq, Oct 2011]

SMCP Gene

sperm mitochondria-associated cysteine-rich protein

Sperm mitochondria differ in morpholog>gg>y and subcellular localization from those of somatic cells. They are elong>gg>ated, flattened, and arrang>gg>ed circumferentially to form a helical coiled sheath in the midpiece of the sperm flag>gg>ellum. The protein encoded by this g>gg>ene localizes to the capsule associated with the mitochondrial outer membranes and is thoug>gg>ht to function in the org>gg>anization and stabilization of the helical structure of the sperm's mitochondrial sheath. [provided by RefSeq, Jul 2008]

g>Gg>RIPAP1 Gene

g>Gg>RIP1 associated protein 1

This g>gg>ene encodes a g>gg>uanine nucleotide exchang>gg>e factor for the Ras family of small g>Gg> proteins (Rasg>Gg>EF). The encoded protein interacts in a complex with g>gg>lutamate g>receptorg> interacting>gg> protein 1 (g>Gg>RIP1) and plays a role in the reg>gg>ulation of AMPA g>receptorg> function. [provided by RefSeq, Aug>gg> 2013]

CEP164P1 Gene

centrosomal protein 164kDa pseudog>gg>ene 1

RPL31P25 Gene

ribosomal protein L31 pseudog>gg>ene 25

LOC100128052 Gene

protein phosphatase 2, reg>gg>ulatory subunit B', g>gg>amma pseudog>gg>ene

SCAMPER Gene

sphing>gg>olipid Ca2+ release mediating>gg> protein of endoplasmic reticulum

TJP1P Gene

tig>gg>ht junction protein 1 pseudog>gg>ene

LOC102724310 Gene

C-terminal-binding>gg> protein 2 pseudog>gg>ene

LINC00174 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 174

LINC00176 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 176

KNOP1P1 Gene

lysine-rich nucleolar protein 1 pseudog>gg>ene 1

LINC00173 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 173

KNOP1P3 Gene

lysine-rich nucleolar protein 1 pseudog>gg>ene 3

DYNAP Gene

dynactin associated protein

Involved in several processes, including>gg> activation of protein kinase B activity; cellular response to erg>gg>osterol; and positive reg>gg>ulation of cell population proliferation. Located in g>Gg>olg>gg>i apparatus and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC102724526 Gene

protein phosphatase 1 reg>gg>ulatory subunit 26-like

PTK2B Gene

protein tyrosine kinase 2 beta

This g>gg>ene encodes a cytoplasmic protein tyrosine kinase which is involved in calcium-induced reg>gg>ulation of ion channels and activation of the map kinase sig>gg>naling>gg> pathway. The encoded protein may represent an important sig>gg>naling>gg> intermediate between neuropeptide-activated g>receptorg>s or neurotransmitters that increase calcium flux and the downstream sig>gg>nals that reg>gg>ulate neuronal activity. The encoded protein underg>gg>oes rapid tyrosine phosphorylation and activation in response to increases in the intracellular calcium concentration, nicotinic acetylcholine g>receptorg> activation, membrane depolarization, or protein kinase C activation. This protein has been shown to bind CRK-associated substrate, nephrocystin, g>Gg>TPase reg>gg>ulator associated with FAK, and the SH2 domain of g>Gg>RB2. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks sig>gg>nificant sequence similarity to kinases from other subfamilies. Four transcript variants encoding>gg> two different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

KHSRPP1 Gene

KH-type splicing>gg> reg>gg>ulatory protein pseudog>gg>ene 1

LINC00824 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 824

LOC105369186 Gene

beta-g>gg>lucuronidase-like protein SMA4

TPRKBP1 Gene

TP53RK binding>gg> protein pseudog>gg>ene 1

CDC42BPg>Gg> Gene

CDC42 binding>gg> protein kinase g>gg>amma (DMPK-like)

Enables ATP binding>gg> activity; mag>gg>nesium ion binding>gg> activity; and protein serine/threonine kinase activity. Involved in protein phosphorylation. Located in cell leading>gg> edg>gg>e; centriolar satellite; and cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CDC42BPA Gene

CDC42 binding>gg> protein kinase alpha (DMPK-like)

The protein encoded by this g>gg>ene is a member of the serine/threonine protein kinase family. This kinase contains multiple functional domains. Its kinase domain is hig>gg>hly similar to that of the myotonic dystrophy protein kinase (DMPK). This kinase also contains a Rac interactive binding>gg> (CRIB) domain, and has been shown to bind CDC42. It may function as a CDC42 downstream effector mediating>gg> CDC42 induced peripheral actin formation, and promoting>gg> cytoskeletal reorg>gg>anization. Multiple alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2018]

CDC42BPB Gene

CDC42 binding>gg> protein kinase beta (DMPK-like)

This g>gg>ene encodes a member of the serine/threonine protein kinase family. The encoded protein contains a Cdc42/Rac-binding>gg> p21 binding>gg> domain resembling>gg> that of PAK kinase. The kinase domain of this protein is most closely related to that of myotonic dystrophy kinase-related ROK. Studies of the similar g>gg>ene in rat sug>gg>g>gg>ested that this kinase may act as a downstream effector of Cdc42 in cytoskeletal reorg>gg>anization. [provided by RefSeq, Jul 2008]

LOC100128738 Gene

leucine rich repeat (in FLII) interacting>gg> protein 2 pseudog>gg>ene

RPL7L1 Gene

ribosomal protein L7-like 1

Enables RNA binding>gg> activity. Predicted to be involved in maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Predicted to act upstream of or within blastocyst formation. Located in mitochondrion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FBXO22 Gene

F-box protein 22

This g>gg>ene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein lig>gg>ase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing>gg> WD-40 domains, Fbls containing>gg> leucine-rich repeats, and Fbxs containing>gg> either different protein-protein interaction modules or no recog>gg>nizable motifs. The protein encoded by this g>gg>ene belong>gg>s to the Fbxs class and, as a transcriptional targ>gg>et of the tumor protein p53, is thoug>gg>ht to be involved in deg>gg>radation of specific proteins in response to p53 induction. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Dec 2010]

FBXO21 Gene

F-box protein 21

This g>gg>ene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein lig>gg>ase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing>gg> WD-40 domains, Fbls containing>gg> leucine-rich repeats, and Fbxs containing>gg> either different protein-protein interaction modules or no recog>gg>nizable motifs. The protein encoded by this g>gg>ene belong>gg>s to the Fbxs class. Alternative splicing>gg> of this g>gg>ene g>gg>enerates 2 transcript variants. [provided by RefSeq, Jul 2008]

FBXO27 Gene

F-box protein 27

Members of the F-box protein family, such as FBXO27, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin lig>gg>ases. F-box proteins interact with SKP1 throug>gg>h the F box, and they interact with ubiquitination targ>gg>ets throug>gg>h other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXO25 Gene

F-box protein 25

This g>gg>ene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein lig>gg>ase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing>gg> WD-40 domains, Fbls containing>gg> leucine-rich repeats, and Fbxs containing>gg> either different protein-protein interaction modules or no recog>gg>nizable motifs. The protein encoded by this g>gg>ene belong>gg>s to the Fbxs class. Three alternatively spliced transcript variants encoding>gg> distinct isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

FBXO24 Gene

F-box protein 24

This g>gg>ene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein lig>gg>ase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing>gg> WD-40 domains, Fbls containing>gg> leucine-rich repeats, and Fbxs containing>gg> either different protein-protein interaction modules or no recog>gg>nizable motifs. The protein encoded by this g>gg>ene belong>gg>s to the Fbxs class. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2009]

FBXO28 Gene

F-box protein 28

Members of the F-box protein family, such as FBXO28, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin lig>gg>ases. F-box proteins interact with SKP1 throug>gg>h the F box, and they interact with ubiquitination targ>gg>ets throug>gg>h other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

YBX1P10 Gene

Y box binding>gg> protein 1 pseudog>gg>ene 10

LOC401805 Gene

ring>gg> fing>gg>er protein 145 pseudog>gg>ene

FLJ38773 Gene

uncharacterized protein FLJ38773

IQg>Gg>AP1 Gene

IQ motif containing>gg> g>Gg>TPase activating>gg> protein 1

This g>gg>ene encodes a member of the IQg>Gg>AP family. The protein contains four IQ domains, one calponin homolog>gg>y domain, one Ras-g>Gg>AP domain and one WW domain. It interacts with components of the cytoskeleton, with cell adhesion molecules, and with several sig>gg>naling>gg> molecules to reg>gg>ulate cell morpholog>gg>y and motility. Expression of the protein is upreg>gg>ulated by g>gg>ene amplification in two g>gg>astric cancer cell lines. [provided by RefSeq, Jul 2008]

IQg>Gg>AP2 Gene

IQ motif containing>gg> g>Gg>TPase activating>gg> protein 2

This g>gg>ene encodes a member of the IQg>Gg>AP family. The encoded protein contains three IQ domains, one calponin homolog>gg>y domain, one Ras-g>Gg>AP domain and one WW domain. This protein interacts with components of the cytoskeleton, with cell adhesion molecules, and with several sig>gg>naling>gg> molecules to reg>gg>ulate cell morpholog>gg>y and motility. It also acts as a tumor suppressor and has been found to play a role in reg>gg>ulating>gg> innate antiviral responses. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Apr 2017]

IQg>Gg>AP3 Gene

IQ motif containing>gg> g>Gg>TPase activating>gg> protein 3

Enables calmodulin binding>gg> activity and myosin VI lig>gg>ht chain binding>gg> activity. Predicted to be involved in mitotic actomyosin contractile ring>gg> assembly actin filament org>gg>anization. Predicted to act upstream of or within several processes, including>gg> g>Gg>1/S transition of mitotic cell cycle; intracellular sig>gg>naling>gg> cassette; and reg>gg>ulation of macromolecule metabolic process. Predicted to be located in cytosol. Predicted to be active in cell cortex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL36AP8 Gene

ribosomal protein L36a pseudog>gg>ene 8

RPL36AP9 Gene

ribosomal protein L36a pseudog>gg>ene 9

RPL36AP6 Gene

ribosomal protein L36a pseudog>gg>ene 6

RPL36AP7 Gene

ribosomal protein L36a pseudog>gg>ene 7

RPL36AP4 Gene

ribosomal protein L36a pseudog>gg>ene 4

Zg>Gg>16B Gene

zymog>gg>en g>gg>ranule protein 16B

Predicted to enable carbohydrate binding>gg> activity. Involved in cell mig>gg>ration. Located in apicolateral plasma membrane; cytoplasm; and extracellular reg>gg>ion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL36AP2 Gene

ribosomal protein L36a pseudog>gg>ene 2

RPL36AP1 Gene

ribosomal protein L36a pseudog>gg>ene 1

PCMTD2 Gene

protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing>gg> 2

Predicted to enable protein-L-isoaspartate (D-aspartate) O-methyltransferase activity. Predicted to be involved in protein modification process. Predicted to be active in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PCMTD1 Gene

protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing>gg> 1

Enables ubiquitin-like lig>gg>ase-substrate adaptor activity. Involved in protein ubiquitination. Part of Cul5-RINg>Gg> ubiquitin lig>gg>ase complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FIBP Gene

fibroblast g>gg>rowth factor (acidic) intracellular binding>gg> protein

Acidic fibroblast g>gg>rowth factor is mitog>gg>enic for a variety of different cell types and acts by stimulating>gg> mitog>gg>enesis or inducing>gg> morpholog>gg>ical chang>gg>es and differentiation. The FIBP protein is an intracellular protein that binds selectively to acidic fibroblast g>gg>rowth factor (aFg>Gg>F). It is postulated that FIBP may be involved in the mitog>gg>enic action of aFg>Gg>F. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

RPS25P5 Gene

ribosomal protein S25 pseudog>gg>ene 5

LINC01441 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1441

TOR1AIP2 Gene

torsin A interacting>gg> protein 2

One of the two protein isoforms encoded by this g>gg>ene is a type II integ>gg>ral membrane protein found in the endoplasmic reticulum (ER). The encoded protein is a cofactor for the ATPase TorsinA, reg>gg>ulating>gg> the amount of TorsinA present in the ER compared to that found in the nuclear envelope. Defects in this protein are a cause of early onset primary dystonia, a neuromuscular disease. The other isoform encoded by this g>gg>ene is an interferon alpha responsive protein whose cellular role has yet to be determined. [provided by RefSeq, Mar 2017]

TOR1AIP1 Gene

torsin A interacting>gg> protein 1

This g>gg>ene encodes a type 2 integ>gg>ral membrane protein that binds A- and B-type lamins. The encoded protein localizes to the inner nuclear membrane and may be involved in maintaining>gg> the attachment of the nuclear membrane to the nuclear lamina during>gg> cell division. Alternate splicing>gg> results in multiple transcript variants. [provided by RefSeq, Apr 2016]

RNF185 Gene

ring>gg> fing>gg>er protein 185

Enables ubiquitin binding>gg> activity; ubiquitin protein lig>gg>ase activity; and ubiquitin-like protein conjug>gg>ating>gg> enzyme binding>gg> activity. Involved in several processes, including>gg> positive reg>gg>ulation of ERAD pathway; protein ubiquitination; and proteolysis involved in protein catabolic process. Located in endoplasmic reticulum. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RNF187 Gene

ring>gg> fing>gg>er protein 187

Enables ubiquitin-protein transferase activity. Involved in positive reg>gg>ulation of DNA-templated transcription; proteasome-mediated ubiquitin-dependent protein catabolic process; and protein ubiquitination. Located in cytosol and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RNF186 Gene

ring>gg> fing>gg>er protein 186

Enables ubiquitin protein lig>gg>ase activity and ubiquitin protein lig>gg>ase binding>gg> activity. Involved in several processes, including>gg> intrinsic apoptotic sig>gg>naling>gg> pathway in response to endoplasmic reticulum stress; proteasome-mediated ubiquitin-dependent protein catabolic process; and protein ubiquitination. Acts upstream of with a positive effect on reg>gg>ulation of autophag>gg>osome assembly. Located in endoplasmic reticulum membrane. Is active in endoplasmic reticulum. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RNF181 Gene

ring>gg> fing>gg>er protein 181

RNF181 binds the integ>gg>rin alpha-IIb (ITg>Gg>A2B; MIM 607759)/beta-3 (ITg>Gg>B3; MIM 173470) complex and has E3 ubiquitin lig>gg>ase activity (Brophy et al., 2008 [PubMed 18331836]).[supplied by OMIM, Dec 2008]

RNF180 Gene

ring>gg> fing>gg>er protein 180

Predicted to enable ubiquitin conjug>gg>ating>gg> enzyme binding>gg> activity and ubiquitin protein lig>gg>ase activity. Predicted to be involved in norepinephrine metabolic process; positive reg>gg>ulation of proteasomal ubiquitin-dependent protein catabolic process; and serotonin metabolic process. Predicted to act upstream of or within several processes, including>gg> adult behavior; positive reg>gg>ulation of protein ubiquitination; and protein polyubiquitination. Predicted to be located in endoplasmic reticulum; membrane; and nuclear envelope. Predicted to be active in endoplasmic reticulum membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RNF183 Gene

ring>gg> fing>gg>er protein 183

Enables ubiquitin protein lig>gg>ase activity. Involved in positive reg>gg>ulation of endoplasmic reticulum stress-induced intrinsic apoptotic sig>gg>naling>gg> pathway; protein ubiquitination; and response to endoplasmic reticulum stress. Located in endoplasmic reticulum membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RNF182 Gene

ring>gg> fing>gg>er protein 182

Enables ubiquitin-protein transferase activity. Involved in protein ubiquitination. Located in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KIFAP3 Gene

kinesin-associated protein 3

The small g>Gg> protein g>Gg>DP dissociation stimulator (smg>gg> g>Gg>DS) is a reg>gg>ulator protein having>gg> two activities on a g>gg>roup of small g>Gg> proteins including>gg> the Rho and Rap1 family members and Ki-Ras; one is to stimulate their g>Gg>DP/g>Gg>TP exchang>gg>e reactions, and the other is to inhibit their interactions with membranes. The protein encoded by this g>gg>ene contains 9 'Armadillo' repeats and interacts with the smg>gg> g>Gg>DS protein throug>gg>h these repeats. This protein, which is hig>gg>hly concentrated around the endoplasmic reticulum, is phosphorylated by v-src, and this phosphorylation reduces the affinity of the protein for smg>gg> g>Gg>DS. It is thoug>gg>ht that this protein serves as a linker between human chromosome-associated polypeptide (HCAP) and KIF3A/B, a kinesin superfamily protein in the nucleus, and that it plays a role in the interaction of chromosomes with an ATPase motor protein. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Mar 2011]

RPS2P6 Gene

ribosomal protein S2 pseudog>gg>ene 6

RPS2P5 Gene

ribosomal protein S2 pseudog>gg>ene 5

RPS2P3 Gene

ribosomal protein S2 pseudog>gg>ene 3

LOC101059962 Gene

serine/threonine-protein phosphatase 1 reg>gg>ulatory subunit 10-like

RBMY2UP Gene

RNA binding>gg> motif protein, Y-linked, family 2, member U pseudog>gg>ene

LOC100132257 Gene

Putative ankyrin repeat domain-containing>gg> protein ENSP00000383069

MBIP Gene

MAP3K12 binding>gg> inhibitory protein 1

Enables identical protein binding>gg> activity and protein kinase inhibitor activity. Involved in several processes, including>gg> positive reg>gg>ulation of JNK cascade; reg>gg>ulation of cell division; and reg>gg>ulation of macromolecule metabolic process. Located in cytosol; nucleolus; and nucleoplasm. Part of ATAC complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

STRN4 Gene

striatin, calmodulin binding>gg> protein 4

Enables armadillo repeat domain binding>gg> activity; protein phosphatase 2A binding>gg> activity; and protein-macromolecule adaptor activity. Involved in neg>gg>ative reg>gg>ulation of hippo sig>gg>naling>gg>. Part of FAR/SIN/STRIPAK complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

STRN3 Gene

striatin, calmodulin binding>gg> protein 3

Enables armadillo repeat domain binding>gg> activity; enzyme binding>gg> activity; and protein-macromolecule adaptor activity. Involved in neg>gg>ative reg>gg>ulation of hippo sig>gg>naling>gg>; neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II; and positive reg>gg>ulation of transcription by RNA polymerase II. Located in g>Gg>olg>gg>i apparatus; nucleoplasm; and plasma membrane. Part of FAR/SIN/STRIPAK complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100422274 Gene

transforming>gg>, acidic coiled-coil containing>gg> protein 3 pseudog>gg>ene

g>Gg>EMIN2P2 Gene

g>gg>em (nuclear org>gg>anelle) associated protein 2 pseudog>gg>ene 2

g>Gg>EMIN2P1 Gene

g>gg>em (nuclear org>gg>anelle) associated protein 2 pseudog>gg>ene 1

g>Gg>PSM2 Gene

g>Gg>-protein sig>gg>naling>gg> modulator 2

The protein encoded by this g>gg>ene belong>gg>s to a family of proteins that modulate activation of g>Gg> proteins, which transduce extracellular sig>gg>nals received by cell surface g>receptorg>s into integ>gg>rated cellular responses. The N-terminal half of this protein contains 10 copies of leu-g>gg>ly-asn (Lg>Gg>N) repeat, and the C-terminal half contains 4 g>Gg>oLoco motifs, which are involved in g>gg>uanine nucleotide exchang>gg>e. This protein may play a role in neuroblast division and in the development of normal hearing>gg>. Mutations in this g>gg>ene are associated with autosomal recessive nonsyndromic deafness (DFNB82). Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Mar 2016]

g>Gg>PSM3 Gene

g>Gg>-protein sig>gg>naling>gg> modulator 3

Predicted to enable g>Gg>TPase reg>gg>ulator activity. Predicted to be involved in positive reg>gg>ulation of inflammatory response. Predicted to act upstream of or within positive reg>gg>ulation of cytokine production involved in inflammatory response and positive reg>gg>ulation of leukocyte chemotaxis. Predicted to be located in cytoplasm and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>PSM1 Gene

g>Gg>-protein sig>gg>naling>gg> modulator 1

g>Gg>-protein sig>gg>naling>gg> modulators (g>Gg>PSMs) play diverse functional roles throug>gg>h their interaction with g>Gg>-protein subunits. This g>gg>ene encodes a g>receptorg>-independent activator of g>Gg> protein sig>gg>naling>gg>, which is one of several factors that influence the basal activity of g>Gg>-protein sig>gg>naling>gg> systems. The protein contains seven tetratricopeptide repeats in its N-terminal half and four g>Gg>-protein reg>gg>ulatory (g>Gg>PR) motifs in its C-terminal half. Multiple alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Dec 2011]

AIMP2 Gene

aminoacyl tRNA synthetase complex-interacting>gg> multifunctional protein 2

The protein encoded by this g>gg>ene is part of the aminoacyl-tRNA synthetase complex, which contains nine different aminoacyl-tRNA synthetases and three non-enzymatic factors. The encoded protein is one of the non-enzymatic factors and is required for assembly and stability of the complex. [provided by RefSeq, May 2016]

AIMP1 Gene

aminoacyl tRNA synthetase complex-interacting>gg> multifunctional protein 1

The protein encoded by this g>gg>ene is a cytokine that is specifically induced by apoptosis, and it is involved in the control of ang>gg>iog>gg>enesis, inflammation, and wound healing>gg>. The release of this cytokine renders the tumor-associated vasculature sensitive to tumor necrosis factor. The precursor protein is identical to the p43 subunit, which is associated with the multi-tRNA synthetase complex, and it modulates aminoacylation activity of tRNA synthetase in normal cells. This protein is also involved in the stimulation of inflammatory responses after proteolytic cleavag>gg>e in tumor cells. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. A pseudog>gg>ene has been identified on chromosome 20. [provided by RefSeq, Dec 2008]

LOC102725157 Gene

nuclear pore complex-interacting>gg> protein family member B5-like

VPS33B Gene

vacuolar protein sorting>gg> 33 homolog>gg> B (yeast)

Vesicle mediated protein sorting>gg> plays an important role in seg>gg>reg>gg>ation of intracellular molecules into distinct org>gg>anelles. g>Gg>enetic studies in yeast have identified more than 40 vacuolar protein sorting>gg> (VPS) g>gg>enes involved in vesicle transport to vacuoles. This g>gg>ene is a member of the Sec-1 domain family, and encodes the human ortholog>gg> of rat Vps33b which is homolog>gg>ous to the yeast class C Vps33 protein. The mammalian class C vacuolar protein sorting>gg> proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking>gg> steps in the endosome/lysosome pathway. Mutations in this g>gg>ene are associated with arthrog>gg>ryposis-renal dysfunction-cholestasis syndrome. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jan 2014]

VPS33A Gene

vacuolar protein sorting>gg> 33 homolog>gg> A (S. cerevisiae)

This g>gg>ene encodes a tethering>gg> protein and a core subunit of the homotypic fusion and protein sorting>gg> (HOPS) complex. The HOPS complex and a second endosomal tethering>gg> complex called the class C core vacuole/endosome tethering>gg> (CORVET) complex, perform diverse functions in endocytosis including>gg> membrane tethering>gg>, Rabg>Gg>TPase interaction, activation and proofreading>gg> of synaptic-soluble N-ethylmaleimide-sensitive factor attachment g>receptorg> (SNARE) assembly to drive membrane fusion, and endosome-to-cytoskeleton attachment. The HOPS complex controls endosome maturation as well as endosome traffic to the lysosome. This complex is essential for vacuolar fusion and is required for adaptor protein complex 3-dependent transport from the g>gg>olg>gg>i to the vacuole. The encoded protein belong>gg>s to the Sec1/Munc18 (SM) family of SNARE-mediated membrane fusion reg>gg>ulators. Naturally occurring>gg> mutations in this g>gg>ene are associated with a novel mucopolysaccharidosis-like disease. [provided by RefSeq, Apr 2017]

SIRPB3P Gene

sig>gg>nal-reg>gg>ulatory protein beta 3, pseudog>gg>ene

PICALM Gene

phosphatidylinositol binding>gg> clathrin assembly protein

This g>gg>ene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by reg>gg>ulating>gg> the size of the clathrin cag>gg>e. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading>gg> to the fusion of this g>gg>ene and the MLLT10 g>gg>ene is found in acute lymphoblastic leukemia, acute myeloid leukemia and malig>gg>nant lymphomas. The polymorphisms of this g>gg>ene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, May 2011]

RPL21P40 Gene

ribosomal protein L21 pseudog>gg>ene 40

RPSAP2 Gene

ribosomal protein SA pseudog>gg>ene 2

TMEM170B Gene

transmembrane protein 170B

Involved in neg>gg>ative reg>gg>ulation of canonical Wnt sig>gg>naling>gg> pathway. Located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM170A Gene

transmembrane protein 170A

Involved in endoplasmic reticulum tubular network org>gg>anization; nuclear envelope org>gg>anization; and nuclear pore complex assembly. Located in endoplasmic reticulum membrane and nuclear envelope. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105369234 Gene

contactin-associated protein-like 3B

MRPS35 Gene

mitochondrial ribosomal protein S35

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 28S subunit protein that has had confusing>gg> nomenclature in the literature. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. Pseudog>gg>enes corresponding>gg> to this g>gg>ene are found on chromosomes 3p, 5q, and 10q. [provided by RefSeq, Jul 2010]

MRPS36 Gene

mitochondrial ribosomal protein S36

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. The mitochondrial ribosome (mitoribosome) consists of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 28S subunit protein. Pseudog>gg>enes corresponding>gg> to this g>gg>ene are found on chromosomes 3p, 4q, 8p, 11q, 12q, and 20p. [provided by RefSeq, Jul 2008]

MRPS31 Gene

mitochondrial ribosomal protein S31

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. The 28S subunit of the mammalian mitoribosome may play a crucial and characteristic role in translation initiation. This g>gg>ene encodes a 28S subunit protein that has also been associated with type 1 diabetes; however, its relationship to the etiolog>gg>y of this disease remains to be clarified. Pseudog>gg>enes corresponding>gg> to this g>gg>ene have been found on chromosomes 3 and 13. [provided by RefSeq, Jul 2008]

MRPS30 Gene

mitochondrial ribosomal protein S30

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 28S subunit protein that is similar to the chicken pro-apoptotic protein p52. Transcript variants using>gg> alternative promoters or polyA sites have been mentioned in the literature but the complete description of these sequences is not available. [provided by RefSeq, Jul 2008]

MRPS33 Gene

mitochondrial ribosomal protein S33

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. The 28S subunit of the mammalian mitoribosome may play a crucial and characteristic role in translation initiation. This g>gg>ene encodes a 28S subunit protein that is one of the more hig>gg>hly conserved mitochondrial ribosomal proteins among>gg> mammals, Drosophila and C. eleg>gg>ans. Splice variants that differ in the 5' UTR have been found for this g>gg>ene; all variants encode the same protein. Pseudog>gg>enes corresponding>gg> to this g>gg>ene are found on chromosomes 1q, 4p, 4q, and 20q [provided by RefSeq, Jul 2008]

HSPA12B Gene

heat shock 70kD protein 12B

The protein encoded by this g>gg>ene contains an atypical heat shock protein 70 (Hsp70) ATPase domain and is therefore a distant member of the mammalian Hsp70 family. This g>gg>ene may be involved in susceptibility to atherosclerosis. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Dec 2015]

HSPA12A Gene

heat shock 70kDa protein 12A

Predicted to enable ATP binding>gg> activity. Located in extracellular exosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105379519 Gene

putative uncharacterized protein ENSP00000383309

NASPP1 Gene

nuclear autoantig>gg>enic sperm protein pseudog>gg>ene 1

LINC00706 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 706

KRTAP13-5P Gene

keratin associated protein 13-5, pseudog>gg>ene

LOC100419515 Gene

zinc fing>gg>er protein 41 pseudog>gg>ene

LOC100419512 Gene

zinc fing>gg>er protein 19 pseudog>gg>ene

LOC100419511 Gene

zinc fing>gg>er protein 79 pseudog>gg>ene

RPS20P16 Gene

ribosomal protein S20 pseudog>gg>ene 16

LOC642975 Gene

transmembrane protein 230 pseudog>gg>ene

RPS20P14 Gene

ribosomal protein S20 pseudog>gg>ene 14

RPS20P10 Gene

ribosomal protein S20 pseudog>gg>ene 10

RPS20P11 Gene

ribosomal protein S20 pseudog>gg>ene 11

FABP3P2 Gene

fatty acid binding>gg> protein 3, pseudog>gg>ene 2

LINC01146 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1146

NOB1 Gene

NIN1/RPN12 binding>gg> protein 1 homolog>gg> (S. cerevisiae)

In yeast, over 200 protein and RNA cofactors are required for ribosome assembly, and these are g>gg>enerally conserved in eukaryotes. These factors orchestrate modification and cleavag>gg>e of the initial 35S precursor rRNA transcript into the mature 18S, 5.8S, and 25S rRNAs, folding>gg> of the rRNA, and binding>gg> of ribosomal proteins and 5S RNA. Nob1 is involved in pre-rRNA processing>gg>. In a late cytoplasmic processing>gg> step, Nob1 cleaves a 20S rRNA intermediate at cleavag>gg>e site D to produce the mature 18S rRNA (Lamanna and Karbstein, 2009 [PubMed 19706509]).[supplied by OMIM, Nov 2010]

LINC01143 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1143

LINC01142 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1142

LINC01141 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1141

RPS20P19 Gene

ribosomal protein S20 pseudog>gg>ene 19

LINC01149 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1149

g>Gg>ATA6 Gene

g>Gg>ATA binding>gg> protein 6

This g>gg>ene is a member of a small family of zinc fing>gg>er transcription factors that play an important role in the reg>gg>ulation of cellular differentiation and org>gg>anog>gg>enesis during>gg> vertebrate development. This g>gg>ene is expressed during>gg> early embryog>gg>enesis and localizes to endo- and mesodermally derived cells during>gg> later embryog>gg>enesis and thereby plays an important role in g>gg>ut, lung>gg>, and heart development. Mutations in this g>gg>ene are associated with several cong>gg>enital defects. [provided by RefSeq, Mar 2012]

g>Gg>ATA4 Gene

g>Gg>ATA binding>gg> protein 4

This g>gg>ene encodes a member of the g>Gg>ATA family of zinc-fing>gg>er transcription factors. Members of this family recog>gg>nize the g>Gg>ATA motif which is present in the promoters of many g>gg>enes. This protein is thoug>gg>ht to reg>gg>ulate g>gg>enes involved in embryog>gg>enesis and in myocardial differentiation and function, and is necessary for normal testicular development. Mutations in this g>gg>ene have been associated with cardiac septal defects. Additionally, alterations in g>gg>ene expression have been associated with several cancer types. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Apr 2015]

g>Gg>ATA5 Gene

g>Gg>ATA binding>gg> protein 5

The protein encoded by this g>gg>ene is a transcription factor that contains two g>Gg>ATA-type zinc fing>gg>ers. The encoded protein is known to bind to hepatocyte nuclear factor-1alpha (HNF-1alpha), and this interaction is essential for cooperative activation of the intestinal lactase-phlorizin hydrolase promoter. In other org>gg>anisms, similar proteins may be involved in the establishment of cardiac smooth muscle cell diversity. [provided by RefSeq, Jul 2008]

g>Gg>ATA2 Gene

g>Gg>ATA binding>gg> protein 2

This g>gg>ene encodes a member of the g>Gg>ATA family of zinc-fing>gg>er transcription factors that are named for the consensus nucleotide sequence they bind in the promoter reg>gg>ions of targ>gg>et g>gg>enes. The encoded protein plays an essential role in reg>gg>ulating>gg> transcription of g>gg>enes involved in the development and proliferation of hematopoietic and endocrine cell lineag>gg>es. Alternative splicing>gg> results in multiple transcript variants.[provided by RefSeq, Mar 2009]

g>Gg>ATA3 Gene

g>Gg>ATA binding>gg> protein 3

This g>gg>ene encodes a protein which belong>gg>s to the g>Gg>ATA family of transcription factors. The protein contains two g>Gg>ATA-type zinc fing>gg>ers and is an important reg>gg>ulator of T-cell development and plays an important role in endothelial cell biolog>gg>y. Defects in this g>gg>ene are the cause of hypoparathyroidism with sensorineural deafness and renal dysplasia. [provided by RefSeq, Nov 2009]

g>Gg>ATA1 Gene

g>Gg>ATA binding>gg> protein 1 (g>gg>lobin transcription factor 1)

This g>gg>ene encodes a protein which belong>gg>s to the g>Gg>ATA family of transcription factors. The protein plays an important role in erythroid development by reg>gg>ulating>gg> the switch of fetal hemog>gg>lobin to adult hemog>gg>lobin. Mutations in this g>gg>ene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia. [provided by RefSeq, Jul 2008]

CDY15P Gene

chromodomain protein, Y-linked 15 pseudog>gg>ene

RPS27L Gene

ribosomal protein S27-like

This g>gg>ene encodes a protein sharing>gg> 96% amino acid similarity with ribosomal protein S27, which sug>gg>g>gg>ests the encoded protein may be a component of the 40S ribosomal subunit. [provided by RefSeq, Jul 2008]

PRO2949 Gene

uncharacterized protein PRO2949

RPS27A Gene

ribosomal protein S27a

Ubiquitin, a hig>gg>hly conserved protein that has a major role in targ>gg>eting>gg> cellular proteins for deg>gg>radation by the 26S proteosome, is synthesized as a precursor protein consisting>gg> of either polyubiquitin chains or a sing>gg>le ubiquitin fused to an unrelated protein. This g>gg>ene encodes a fusion protein consisting>gg> of ubiquitin at the N terminus and ribosomal protein S27a at the C terminus. When expressed in yeast, the protein is post-translationally processed, g>gg>enerating>gg> free ubiquitin monomer and ribosomal protein S27a. Ribosomal protein S27a is a component of the 40S subunit of the ribosome and belong>gg>s to the S27AE family of ribosomal proteins. It contains C4-type zinc fing>gg>er domains and is located in the cytoplasm. Pseudog>gg>enes derived from this g>gg>ene are present in the g>gg>enome. As with ribosomal protein S27a, ribosomal protein L40 is also synthesized as a fusion protein with ubiquitin; similarly, ribosomal protein S30 is synthesized as a fusion protein with the ubiquitin-like protein fubi. Multiple alternatively spliced transcript variants that encode the same proteins have been identified.[provided by RefSeq, Sep 2008]

CXXC1P1 Gene

CXXC fing>gg>er protein 1 pseudog>gg>ene 1

RPL10P10 Gene

ribosomal protein L10 pseudog>gg>ene 10

RPL10P11 Gene

ribosomal protein L10 pseudog>gg>ene 11

RPL10P12 Gene

ribosomal protein L10 pseudog>gg>ene

RPL10P13 Gene

ribosomal protein L10 pseudog>gg>ene

RPL10P14 Gene

ribosomal protein L10 pseudog>gg>ene 14

RPL10P15 Gene

ribosomal protein L10 pseudog>gg>ene

RPL10P16 Gene

ribosomal protein L10 pseudog>gg>ene 16

LOC105379272 Gene

putative ankyrin repeat domain-containing>gg> protein 20A12 pseudog>gg>ene

CASKP1 Gene

calcium/calmodulin-dependent serine protein kinase (MAg>Gg>UK family) pseudog>gg>ene 1

RPL13AP18 Gene

ribosomal protein L13a pseudog>gg>ene 18

ARL14EPL Gene

ADP-ribosylation factor-like 14 effector protein-like

LINC00423 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 423

ZNF75BP Gene

zinc fing>gg>er protein 75B, pseudog>gg>ene

LINC00421 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 421

LINC00427 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 427

LINC00426 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 426

TAF13 Gene

TAF13 RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor, 18kDa

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for reg>gg>ulatory sig>gg>nals. TFIID is composed of the TATA-binding>gg> protein (TBP) and a g>gg>roup of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recog>gg>nition or modify g>gg>eneral transcription factors (g>Gg>TFs) to facilitate complex assembly and transcription initiation. This g>gg>ene encodes a small subunit associated with a subset of TFIID complexes. This subunit interacts with TBP and with two other small subunits of TFIID, TAF10 and TAF11. There is a pseudog>gg>ene located on chromosome 6. [provided by RefSeq, Jul 2008]

TAF12 Gene

TAF12 RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor, 20kDa

Control of transcription by RNA polymerase II involves the basal transcription machinery which is a collection of proteins. These proteins with RNA polymerase II, assemble into complexes which are modulated by transactivator proteins that bind to cis-reg>gg>ulatory elements located adjacent to the transcription start site. Some modulators interact directly with the basal complex, whereas others may act as bridg>gg>ing>gg> proteins linking>gg> transactivators to the basal transcription factors. Some of these associated factors are weakly attached while others are tig>gg>htly associated with TBP in the TFIID complex. Among>gg> the latter are the TAF proteins. Different TAFs are predicted to mediate the function of distinct transcriptional activators for a variety of g>gg>ene promoters and RNA polymerases. TAF12 interacts directly with TBP as well as with TAF2I. Two transcript variants encoding>gg> the same protein have been found for this g>gg>ene. [provided by RefSeq, Sep 2008]

TAF11 Gene

TAF11 RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor, 28kDa

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for reg>gg>ulatory sig>gg>nals. TFIID is composed of the TATA-binding>gg> protein (TBP) and a g>gg>roup of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recog>gg>nition or modify g>gg>eneral transcription factors (g>Gg>TFs) to facilitate complex assembly and transcription initiation. This g>gg>ene encodes a small subunit of TFIID that is present in all TFIID complexes and interacts with TBP. This subunit also interacts with another small subunit, TAF13, to form a heterodimer with a structure similar to the histone core structure. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2012]

TAF10 Gene

TAF10 RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor, 30kDa

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for reg>gg>ulatory sig>gg>nals. TFIID is composed of the TATA-binding>gg> protein (TBP) and a g>gg>roup of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recog>gg>nition or modify g>gg>eneral transcription factors (g>Gg>TFs) to facilitate complex assembly and transcription initiation. This g>gg>ene encodes one of the small subunits of TFIID that is associated with a subset of TFIID complexes. Studies with human and mammalian cells have shown that this subunit is required for transcriptional activation by the estrog>gg>en g>receptorg>, for prog>gg>ression throug>gg>h the cell cycle, and may also be required for certain cellular differentiation prog>gg>rams. [provided by RefSeq, Jul 2008]

TAF15 Gene

TAF15 RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor, 68kDa

This g>gg>ene encodes a member of the TET family of RNA-binding>gg> proteins. The encoded protein plays a role in RNA polymerase II g>gg>ene transcription as a component of a distinct subset of multi-subunit transcription initiation factor TFIID complexes. Translocations involving>gg> this g>gg>ene play a role in acute leukemia and extraskeletal myxoid chondrosarcoma, and mutations in this g>gg>ene may play a role in amyotrophic lateral sclerosis. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, May 2012]

LINC00424 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 424

LOC728989 Gene

phosphodiesterase 4D interacting>gg> protein pseudog>gg>ene

LOC105370980 Gene

putative uncharacterized protein UNQ9370/PRO34162

TAF1C Gene

TATA box binding>gg> protein (TBP)-associated factor, RNA polymerase I, C, 110kDa

Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding>gg> protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of ribosomal RNA g>gg>enes to position the polymerase properly and acts as a channel for reg>gg>ulatory sig>gg>nals. This g>gg>ene encodes the larg>gg>est SL1-specific TAF. Multiple alternatively spliced transcript variants encoding>gg> different isoforms have been identified. [provided by RefSeq, Jul 2011]

TAF1A Gene

TATA box binding>gg> protein (TBP)-associated factor, RNA polymerase I, A, 48kDa

This g>gg>ene encodes a subunit of the RNA polymerase I complex, Selectivity Factor I (SLI). The encoded protein is a TATA box-binding>gg> protein-associated factor that plays a role in the assembly of the RNA polymerase I preinitiation complex. Alternate splicing>gg> results in multiple transcript variants encoding>gg> multiple isoforms.[provided by RefSeq, Jan 2011]

TRIOBP Gene

TRIO and F-actin binding>gg> protein

This g>gg>ene encodes a protein with an N-terminal pleckstrin homolog>gg>y domain and a C-terminal coiled-coil reg>gg>ion. The protein interacts with trio, which is involved with neural tissue development and controlling>gg> actin cytoskeleton org>gg>anization, cell motility and cell g>gg>rowth. The protein also associates with F-actin and stabilizes F-actin structures. Mutations in this g>gg>ene have been associated with a form of autosomal recessive nonsyndromic deafness. Multiple alternatively spliced transcript variants that would encode different isoforms have been found for this g>gg>ene, however some transcripts may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Nov 2008]

TAF1L Gene

TAF1 RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor, 210kDa-like

This locus is intronless, and apparently arose in the primate lineag>gg>e from retrotransposition of the transcript from the multi-exon TAF1 locus on the X chromosome. The g>gg>ene is expressed in male g>gg>erm cells, and the product has been shown to function interchang>gg>eably with the TAF1 product. [provided by RefSeq, Aug>gg> 2015]

LOC102723623 Gene

g>gg>olg>gg>in subfamily A member 6-like protein 1

LOC646995 Gene

tripartite motif-containing>gg> protein 38-like

ZNF705g>Gg> Gene

zinc fing>gg>er protein 705g>Gg>

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF705F Gene

zinc fing>gg>er protein 705F

ZNF705E Gene

zinc fing>gg>er protein 705E

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF705D Gene

zinc fing>gg>er protein 705D

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF705C Gene

zinc fing>gg>er protein 705C, pseudog>gg>ene

ZNF705B Gene

zinc fing>gg>er protein 705B

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF705A Gene

zinc fing>gg>er protein 705A

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TEP1 Gene

telomerase-associated protein 1

This g>gg>ene product is a component of the ribonucleoprotein complex responsible for telomerase activity which catalyzes the addition of new telomeres on the chromosome ends. The telomerase-associated proteins are conserved from ciliates to humans. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jan 2016]

SHPRH Gene

SNF2 histone linker PHD RINg>Gg> helicase, E3 ubiquitin protein lig>gg>ase

SHPRH is a ubiquitously expressed protein that contains motifs characteristics of several DNA repair proteins, transcription factors, and helicases. SHPRH is a functional homolog>gg> of S. cerevisiae RAD5 (Unk et al., 2006 [PubMed 17108083]).[supplied by OMIM, Mar 2008]

NKAP Gene

NFKB activating>gg> protein

This g>gg>ene encodes a protein that is involved in the activation of the ubiquitous transcription factor NF-kappaB. This protein is associated with the the histone deacetylase HDAC3 and with the Notch corepressor complex, and it thereby acts as a transcriptional repressor of Notch targ>gg>et g>gg>enes. It is also required for alphabeta T cell development. A related pseudog>gg>ene has been identified on chromosome X, while a related and intronless retrocopy, which has an intact CDS and may be functional, is located on chromosome 6. [provided by RefSeq, May 2010]

RBFADN Gene

RBFA downstream neig>gg>hbor (non-protein coding>gg>)

LOC100419451 Gene

zinc fing>gg>er protein 3 pseudog>gg>ene

LOC100420116 Gene

transmembrane protein 132B pseudog>gg>ene

SH3BP4 Gene

SH3-domain binding>gg> protein 4

This g>gg>ene encodes a protein with 3 Asn-Pro-Phe (NPF) motifs, an SH3 domain, a PXXP motif, a bipartite nuclear targ>gg>eting>gg> sig>gg>nal, and a tyrosine phosphorylation site. This protein is involved in carg>gg>o-specific control of clathrin-mediated endocytosis, specifically controlling>gg> the internalization of a specific protein g>receptorg>. [provided by RefSeq, Jul 2008]

SH3BP5 Gene

SH3-domain binding>gg> protein 5 (BTK-associated)

Enables g>gg>uanyl-nucleotide exchang>gg>e factor activity and protein kinase inhibitor activity. Acts upstream of or within intracellular sig>gg>nal transduction. Located in cytoplasmic vesicle membrane and nuclear body. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SH3BP1 Gene

SH3-domain binding>gg> protein 1

This g>gg>ene encodes a member of the Rho g>Gg>TPase activating>gg> protein (Rhog>Gg>AP) family. The encoded protein reg>gg>ulates Rac sig>gg>naling>gg> and plays a role in cytoskeletal dynamics, cell motility and epithelial junction formation. This protein's association with the exocyst complex, which tethers secretory vesicles to the plasma membrane, has been demonstrated to be important in cell motility. In a distinct complex, this protein has been shown to reg>gg>ulate epithelial junction formation and morphog>gg>enesis. By interacting>gg> with the Plexin-D1 cell surface g>receptorg>, this protein mediates chang>gg>es in the cytoskeleton in response to semaphorin binding>gg>. This protein may promote metastasis in human liver cancer cells and tissues. [provided by RefSeq, Mar 2017]

SH3BP2 Gene

SH3-domain binding>gg> protein 2

The protein encoded by this g>gg>ene has an N-terminal pleckstrin homolog>gg>y (PH) domain, an SH3-binding>gg> proline-rich reg>gg>ion, and a C-terminal SH2 domain. The protein binds to the SH3 domains of several proteins including>gg> the ABL1 and SYK protein tyrosine kinases , and functions as a cytoplasmic adaptor protein to positively reg>gg>ulate transcriptional activity in T, natural killer (NK), and basophilic cells. Mutations in this g>gg>ene result in cherubism. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Mar 2009]

MAPK7 Gene

mitog>gg>en-activated protein kinase 7

The protein encoded by this g>gg>ene is a member of the MAP kinase family. MAP kinases act as an integ>gg>ration point for multiple biochemical sig>gg>nals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription reg>gg>ulation and development. This kinase is specifically activated by mitog>gg>en-activated protein kinase kinase 5 (MAP2K5/MEK5). It is involved in the downstream sig>gg>naling>gg> processes of various g>receptorg> molecules including>gg> g>receptorg> type kinases, and g>Gg> g>protein-coupledg> g>receptorg>s. In response to extracelluar sig>gg>nals, this kinase translocates to cell nucleus, where it reg>gg>ulates g>gg>ene expression by phosphorylating>gg>, and activating>gg> different transcription factors. Four alternatively spliced transcript variants of this g>gg>ene encoding>gg> two distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

REP15 Gene

RAB15 effector protein

The protein encoded by this intronless g>gg>ene interacts with g>Gg>TP-bound Rab15 and is involved in recycling>gg> of transferrin g>receptorg> from the endocytic recycling>gg> compartment to the cell surface. [provided by RefSeq, Sep 2016]

LOC105372728 Gene

protein capicua homolog>gg> pseudog>gg>ene

ZNF601P Gene

zinc fing>gg>er protein 601, pseudog>gg>ene

RBBP4P6 Gene

retinoblastoma binding>gg> protein 4 pseudog>gg>ene 6

RBBP4P1 Gene

retinoblastoma binding>gg> protein 4 pseudog>gg>ene 1

RBBP4P3 Gene

retinoblastoma binding>gg> protein 4 pseudog>gg>ene 3

LOC100996634 Gene

transmembrane protein FLJ37396

LOC105373477 Gene

protein g>Gg>VQW1-like

CCHCR1 Gene

coiled-coil alpha-helical rod protein 1

This g>gg>ene encodes a protein with five coiled-coil alpha-helical rod domains that is thoug>gg>ht to act as a reg>gg>ulator of mRNA metabolism throug>gg>h its interaction with mRNA-decapping>gg> protein 4. It localizes to P-bodies, the site of mRNA metabolism, with an N-terminus that is required for this subcellular localization, sug>gg>g>gg>esting>gg> it is a P-body component. Naturally occurring>gg> mutations in this g>gg>ene are associated with psoriasis. [provided by RefSeq, May 2017]

TAMM41 Gene

TAM41, mitochondrial translocator assembly and maintenance protein, homolog>gg> (S. cerevisiae)

Predicted to enable phosphatidate cytidylyltransferase activity. Predicted to be involved in CDP-diacylg>gg>lycerol biosynthetic process and cardiolipin biosynthetic process. Is active in mitochondrion. Implicated in combined oxidative phosphorylation deficiency 56. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>APT Gene

g>Gg>RB2-binding>gg> adaptor protein, transmembrane

Predicted to be involved in B cell homeostasis and B cell proliferation involved in immune response. Located in g>Gg>olg>gg>i apparatus and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>PBP1L1 Gene

g>Gg>C-rich promoter binding>gg> protein 1-like 1

Predicted to enable DNA binding>gg> activity and RNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MRPS18CP3 Gene

mitochondrial ribosomal protein S18C pseudog>gg>ene 3

KRTAP7-1 Gene

keratin associated protein 7-1 (g>gg>ene/pseudog>gg>ene)

Predicted to be located in intermediate filament. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MRPS18CP5 Gene

mitochondrial ribosomal protein S18C pseudog>gg>ene 5

MRPS18CP4 Gene

mitochondrial ribosomal protein S18C pseudog>gg>ene 4

MRPS18CP6 Gene

mitochondrial ribosomal protein S18C pseudog>gg>ene 6

RPS26P30 Gene

ribosomal protein S26 pseudog>gg>ene 30

LOC100132789 Gene

transmembrane protein 126A pseudog>gg>ene

LOC100287985 Gene

ring>gg>-box 1, E3 ubiquitin protein lig>gg>ase pseudog>gg>ene

LOC100289585 Gene

proliferation-inducing>gg> protein 25

ATP6AP1L Gene

ATPase, H+ transporting>gg>, lysosomal accessory protein 1-like

Predicted to enable ATPase activator activity. Predicted to be involved in reg>gg>ulation of cellular pH. Predicted to be located in membrane. Predicted to be part of proton-transporting>gg> V-type ATPase complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF267 Gene

zinc fing>gg>er protein 267

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL7P56 Gene

ribosomal protein L7 pseudog>gg>ene 56

RPL7P53 Gene

ribosomal protein L7 pseudog>gg>ene 53

RPL7P52 Gene

ribosomal protein L7 pseudog>gg>ene 52

RPL7P51 Gene

ribosomal protein L7 pseudog>gg>ene 51

RPL7P50 Gene

ribosomal protein L7 pseudog>gg>ene 50

RPL7P59 Gene

ribosomal protein L7 pseudog>gg>ene 59

TYW5 Gene

tRNA-yW synthesizing>gg> protein 5

Enables several functions, including>gg> iron ion binding>gg> activity; protein homodimerization activity; and tRNA(Phe) (7-(3-amino-3-carboxypropyl)wyosine37-C2)-hydroxylase activity. Involved in wybutosine biosynthetic process. Predicted to be located in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TYW1 Gene

tRNA-yW synthesizing>gg> protein 1 homolog>gg> (S. cerevisiae)

Wybutosine (yW) is a hypermodified g>gg>uanosine found in phenylalanine tRNA adjacent to the anticodon that stabilizes codon-anticodon interactions in the ribosome. In yeast, the homolog>gg> of this g>gg>ene is essential for the synthesis of wybutosine. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Dec 2015]

TYW3 Gene

tRNA-yW synthesizing>gg> protein 3 homolog>gg> (S. cerevisiae)

Wybutosine (yW) is a hypermodified g>gg>uanosine at the 3-prime position adjacent to the anticodon of phenylalanine tRNA that stabilizes codon-anticodon interactions during>gg> decoding>gg> on the ribosome. TYW3 is the human homolog>gg> of a yeast g>gg>ene essential for yW synthesis (Noma and Suzuki, 2006).[supplied by OMIM, Mar 2008]

PCP4L1 Gene

Purkinje cell protein 4 like 1

NCRUPAR Gene

non-protein coding>gg> RNA, upstream of F2R/PAR1

This non-coding>gg> RNA g>gg>ene has been reported to have a positive reg>gg>ulatory affect during>gg> embryog>gg>enesis on the adjacent coag>gg>ulation factor II (thrombin) g>receptorg> g>gg>ene by Madamanchi et. al (PMID:12084570). [provided by RefSeq, Aug>gg> 2012]

KRTAP9-12P Gene

keratin associated protein 9-12, pseudog>gg>ene

SCAMP4 Gene

secretory carrier membrane protein 4

Secretory carrier membrane proteins (SCAMPs) are widely distributed integ>gg>ral membrane proteins implicated in membrane trafficking>gg>. Most SCAMPs (e.g>gg>., SCAMP1; MIM 606911) have N-terminal cytoplasmic NPF (arg>gg>-pro-phe) repeats, 4 central transmembrane reg>gg>ions, and a short C-terminal cytoplasmic tail. These SCAMPs likely have a role in endocytosis that is mediated by their NPF repeats. Other SCAMPs, such as SCAMP4, lack the NPF repeats and are therefore unlikely to function in endocytosis (summary by Fernandez-Chacon and Sudhof, 2000 [PubMed 11050114]).[supplied by OMIM, Feb 2011]

SCAMP5 Gene

secretory carrier membrane protein 5

Involved in positive reg>gg>ulation of cytokine production; reg>gg>ulation of vesicle-mediated transport; and response to endoplasmic reticulum stress. Located in g>Gg>olg>gg>i apparatus; plasma membrane; and recycling>gg> endosome membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SCAMP2 Gene

secretory carrier membrane protein 2

This g>gg>ene product belong>gg>s to the SCAMP family of proteins which are secretory carrier membrane proteins. They function as carriers to the cell surface in post-g>gg>olg>gg>i recycling>gg> pathways. Different family members are hig>gg>hly related products of distinct g>gg>enes, and are usually expressed tog>gg>ether. These finding>gg>s sug>gg>g>gg>est that the SCAMPs may function at the same site during>gg> vesicular transport rather than in separate pathways. Alternate splicing>gg> results in multiple transcript variants. [provided by RefSeq, Mar 2016]

SCAMP3 Gene

secretory carrier membrane protein 3

This g>gg>ene encodes an integ>gg>ral membrane protein that belong>gg>s to the secretory carrier membrane protein family. The encoded protein functions as a carrier to the cell surface in post-g>gg>olg>gg>i recycling>gg> pathways. This protein is also involved in protein trafficking>gg> in endosomal pathways. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene.[provided by RefSeq, May 2011]

SCAMP1 Gene

secretory carrier membrane protein 1

This g>gg>ene product belong>gg>s to the SCAMP family of proteins, which are secretory carrier membrane proteins. They function as carriers to the cell surface in post-g>gg>olg>gg>i recycling>gg> pathways. Different family members are hig>gg>hly related products of distinct g>gg>enes, and are usually expressed tog>gg>ether. These finding>gg>s sug>gg>g>gg>est that these protein family members may function at the same site during>gg> vesicular transport rather than in separate pathways. A pseudog>gg>ene of this g>gg>ene has been defined on chromosome 1. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Mar 2014]

ZNF444 Gene

zinc fing>gg>er protein 444

This g>gg>ene encodes a zinc fing>gg>er protein which activates transcription of a scaveng>gg>er g>receptorg> g>gg>ene involved in the deg>gg>radation of acetylated low density lipoprotein (Ac-LDL) (PMID: 11978792). This g>gg>ene is located in a cluster of zinc fing>gg>er g>gg>enes on chromosome 19 at q13.4. A pseudog>gg>ene of this g>gg>ene is located on chromosome 15. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Dec 2011]

ZNF445 Gene

zinc fing>gg>er protein 445

Enables double-stranded methylated DNA binding>gg> activity. Involved in epig>gg>enetic prog>gg>raming>gg> of female pronucleus and neg>gg>ative reg>gg>ulation of g>gg>ene expression via chromosomal Cpg>Gg> island methylation. Located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF446 Gene

zinc fing>gg>er protein 446

Enables identical protein binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Located in extracellular space. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF440 Gene

zinc fing>gg>er protein 440

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF441 Gene

zinc fing>gg>er protein 441

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF442 Gene

zinc fing>gg>er protein 442

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF443 Gene

zinc fing>gg>er protein 443

Zinc fing>gg>er proteins (ZNFs) bind DNA and, throug>gg>h this binding>gg>, reg>gg>ulate g>gg>ene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fing>gg>ers. For a g>gg>eneral description of these proteins, see ZNF91 (MIM 603971).[supplied by OMIM, Jul 2002]

ZNF449 Gene

zinc fing>gg>er protein 449

This g>gg>ene encodes a nuclear protein that likely functions as a transcription factor. The protein includes an N-terminal SCAN domain, and seven C2H2-type zinc fing>gg>er motifs. [provided by RefSeq, May 2010]

LOC100419238 Gene

centromere protein V pseudog>gg>ene

LOC100419232 Gene

UBX domain protein 4 pseudog>gg>ene

CINP Gene

cyclin-dependent kinase 2 interacting>gg> protein

The protein encoded by this g>gg>ene is reported to be a component of the DNA replication complex as well as a g>gg>enome-maintenance protein. It may interact with proteins important for replication initiation and has been shown to bind chromatin at the g>Gg>1 phase of the cell cycle and dissociate from chromatin with replication initiation. It may also serve to reg>gg>ulate checkpoint sig>gg>naling>gg> as part of the DNA damag>gg>e response. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Feb 2016]

LOC100418548 Gene

zinc fing>gg>er protein 70 pseudog>gg>ene

LOC100418547 Gene

zinc fing>gg>er protein 93 pseudog>gg>ene

LOC100418546 Gene

zinc fing>gg>er protein 70 pseudog>gg>ene

LOC100418545 Gene

ribosomal protein L15 pseudog>gg>ene

LOC100418544 Gene

ribosomal protein L7a pseudog>gg>ene

LOC100418543 Gene

ribosomal protein L15 pseudog>gg>ene

LOC100418542 Gene

ribosomal protein L13 pseudog>gg>ene

LOC100418541 Gene

ribosomal protein L7a pseudog>gg>ene

MYCNUT Gene

MYCN upstream transcript (non-protein coding>gg>)

LOC100422325 Gene

poly(A) binding>gg> protein, cytoplasmic 4 (inducible form) pseudog>gg>ene

LOC100288844 Gene

zinc fing>gg>er protein 133-like

LINC00669 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 669

LINC00668 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 668

LINC00665 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 665

LINC00664 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 664

LINC00667 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 667

ZNF385D Gene

zinc fing>gg>er protein 385D

Enables sequence-specific double-stranded DNA binding>gg> activity. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00661 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 661

LINC00663 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 663

LINC00662 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 662

g>Gg>OLM1 Gene

g>gg>olg>gg>i membrane protein 1

The g>Gg>olg>gg>i complex plays a key role in the sorting>gg> and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this g>gg>ene is a type II g>Gg>olg>gg>i transmembrane protein. It processes proteins synthesized in the roug>gg>h endoplasmic reticulum and assists in the transport of protein carg>gg>o throug>gg>h the g>Gg>olg>gg>i apparatus. The expression of this g>gg>ene has been observed to be upreg>gg>ulated in response to viral infection. Alternatively spliced transcript variants encoding>gg> the same protein have been described for this g>gg>ene. [provided by RefSeq, Sep 2009]

HSP90AA1 Gene

heat shock protein 90kDa alpha (cytosolic), class A member 1

The protein encoded by this g>gg>ene is an inducible molecular chaperone that functions as a homodimer. The encoded protein aids in the proper folding>gg> of specific targ>gg>et proteins by use of an ATPase activity that is modulated by co-chaperones. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jan 2012]

LINC00083 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 83

Predicted to enable carbohydrate binding>gg> activity. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SCP2 Gene

sterol carrier protein 2

This g>gg>ene encodes two proteins: sterol carrier protein X (SCPx) and sterol carrier protein 2 (SCP2), as a result of transcription initiation from 2 independently reg>gg>ulated promoters. The transcript initiated from the proximal promoter encodes the long>gg>er SCPx protein, and the transcript initiated from the distal promoter encodes the shorter SCP2 protein, with the 2 proteins sharing>gg> a common C-terminus. Evidence sug>gg>g>gg>ests that the SCPx protein is a peroxisome-associated thiolase that is involved in the oxidation of branched chain fatty acids, while the SCP2 protein is thoug>gg>ht to be an intracellular lipid transfer protein. This g>gg>ene is hig>gg>hly expressed in org>gg>ans involved in lipid metabolism, and may play a role in Zellweg>gg>er syndrome, in which cells are deficient in peroxisomes and have impaired bile acid synthesis. Alternative splicing>gg> of this g>gg>ene produces multiple transcript variants, some encoding>gg> different isoforms.[provided by RefSeq, Aug>gg> 2010]

HJURP Gene

Holliday junction recog>gg>nition protein

Enables histone binding>gg> activity and identical protein binding>gg> activity. Involved in CENP-A containing>gg> chromatin assembly; chromosome seg>gg>reg>gg>ation; and reg>gg>ulation of protein-containing>gg> complex assembly. Located in cytosol; kinetochore; and nuclear lumen. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

DOK2 Gene

docking>gg> protein 2, 56kDa

The protein encoded by this g>gg>ene is constitutively tyrosine phosphorylated in hematopoietic prog>gg>enitors isolated from chronic myelog>gg>enous leukemia (CML) patients in the chronic phase. It may be a critical substrate for p210(bcr/abl), a chimeric protein whose presence is associated with CML. This encoded protein binds p120 (Rasg>Gg>AP) from CML cells. [provided by RefSeq, Jul 2008]

DOK3 Gene

docking>gg> protein 3

Predicted to be involved in Ras protein sig>gg>nal transduction; cell surface g>receptorg> protein tyrosine kinase sig>gg>naling>gg> pathway; and positive reg>gg>ulation of MAPK cascade. Predicted to be located in ficolin-1-rich g>gg>ranule membrane and plasma membrane. Predicted to be active in cytoplasm. Implicated in colorectal adenocarcinoma. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

DOK1 Gene

docking>gg> protein 1, 62kDa (downstream of tyrosine kinase 1)

The protein encoded by this g>gg>ene is part of a sig>gg>nal transduction pathway downstream of g>receptorg> tyrosine kinases. The encoded protein is a scaffold protein that helps form a platform for the assembly of multiprotein sig>gg>naling>gg> complexes. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jan 2016]

DOK6 Gene

docking>gg> protein 6

DOK6 is a member of the DOK (see DOK1; MIM 602919) family of intracellular adaptors that play a role in the RET (MIM 164761) sig>gg>naling>gg> cascade (Crowder et al., 2004 [PubMed 15286081]).[supplied by OMIM, Mar 2008]

DOK7 Gene

docking>gg> protein 7

The protein encoded by this g>gg>ene is essential for neuromuscular synaptog>gg>enesis. The protein functions in aneural activation of muscle-specific g>receptorg> kinase, which is required for postsynaptic differentiation, and in the subsequent clustering>gg> of the acetylcholine g>receptorg> in myotubes. This protein can also induce autophosphorylation of muscle-specific g>receptorg> kinase. Mutations in this g>gg>ene are a cause of familial limb-g>gg>irdle myasthenia autosomal recessive, which is also known as cong>gg>enital myasthenic syndrome type 1B. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Sep 2009]

DOK4 Gene

docking>gg> protein 4

Predicted to be involved in Ras protein sig>gg>nal transduction; cell surface g>receptorg> protein tyrosine kinase sig>gg>naling>gg> pathway; and positive reg>gg>ulation of MAPK cascade. Predicted to act upstream of or within nervous system development. Predicted to be located in cytosol. Predicted to be active in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

DOK5 Gene

docking>gg> protein 5

The protein encoded by this g>gg>ene is a member of the DOK family of membrane proteins, which are adapter proteins involved in sig>gg>nal transduction. The encoded protein interacts with phosphorylated g>receptorg> tyrosine kinases to mediate neurite outg>gg>rowth and activation of the MAP kinase pathway. Unlike other DOK family proteins, this protein does not interact with RASg>Gg>AP. This protein is up-reg>gg>ulated in patients with systemic sclerosis and is associated with fibrosis induced by insulin-like g>gg>rowth factor binding>gg> protein 5. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants. [provided by RefSeq, Jun 2014]

LOC102724770 Gene

protein Dg>Gg>CR6

LOC102724777 Gene

putative uncharacterized protein FLJ92257

PDCD6IP Gene

prog>gg>rammed cell death 6 interacting>gg> protein

This g>gg>ene encodes a protein that functions within the ESCRT pathway in the abscission stag>gg>e of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding>gg>. Studies using>gg> mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this g>gg>ene binds to the product of the PDCD6 g>gg>ene, a protein required for apoptosis, in a calcium-dependent manner. This g>gg>ene product also binds to endophilins, proteins that reg>gg>ulate membrane shape during>gg> endocytosis. Overexpression of this g>gg>ene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection ag>gg>ainst cell death. Several alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. Related pseudog>gg>enes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]

HSPA2 Gene

heat shock 70kDa protein 2

Enables disordered domain specific binding>gg> activity; enzyme binding>gg> activity; and unfolded protein binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of inclusion body assembly and protein refolding>gg>. Located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

HSPA7 Gene

heat shock 70kDa protein 7 (HSP70B)

Predicted to enable ATP hydrolysis activity; heat shock protein binding>gg> activity; and protein folding>gg> chaperone. Predicted to be involved in chaperone cofactor-dependent protein refolding>gg> and protein refolding>gg>. Located in COP9 sig>gg>nalosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

HSPA6 Gene

heat shock 70kDa protein 6 (HSP70B')

Enables several functions, including>gg> ATP hydrolysis activity; heat shock protein binding>gg> activity; and unfolded protein binding>gg> activity. Involved in cellular response to heat and protein refolding>gg>. Located in COP9 sig>gg>nalosome; centriole; and cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

HSPA4 Gene

heat shock 70kDa protein 4

Predicted to enable adenyl-nucleotide exchang>gg>e factor activity. Involved in chaperone-mediated protein complex assembly and protein insertion into mitochondrial outer membrane. Located in cytosol and extracellular exosome. Implicated in Chag>gg>as disease. Biomarker of chronic obstructive pulmonary disease; rheumatoid arthritis; type 2 diabetes mellitus; and ulcerative colitis. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

UQCRHP4 Gene

ubiquinol-cytochrome c reductase hing>gg>e protein pseudog>gg>ene 4

HSPA9 Gene

heat shock 70kDa protein 9 (mortalin)

This g>gg>ene encodes a member of the heat shock protein 70 g>gg>ene family. The encoded protein is primarily localized to the mitochondria but is also found in the endoplasmic reticulum, plasma membrane and cytoplasmic vesicles. This protein is a heat-shock cog>gg>nate protein. This protein plays a role in cell proliferation, stress response and maintenance of the mitochondria. A pseudog>gg>ene of this g>gg>ene is found on chromosome 2.[provided by RefSeq, May 2010]

HSPA8 Gene

heat shock 70kDa protein 8

This g>gg>ene encodes a member of the heat shock protein 70 family, which contains both heat-inducible and constitutively expressed members. This protein belong>gg>s to the latter g>gg>roup, which are also referred to as heat-shock cog>gg>nate proteins. It functions as a chaperone, and binds to nascent polypeptides to facilitate correct folding>gg>. It also functions as an ATPase in the disassembly of clathrin-coated vesicles during>gg> transport of membrane components throug>gg>h the cell. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Aug>gg> 2011]

UQCRHP1 Gene

ubiquinol-cytochrome c reductase hing>gg>e protein pseudog>gg>ene 1

UQCRHP2 Gene

ubiquinol-cytochrome c reductase hing>gg>e protein pseudog>gg>ene 2

g>Gg>LTPP1 Gene

g>gg>lycolipid transfer protein pseudog>gg>ene 1

LOC105372855 Gene

putative POM121-like protein 1

DANCR Gene

differentiation antag>gg>onizing>gg> non-protein coding>gg> RNA

This g>gg>ene produces a long>gg> non-coding>gg> RNA that functions as a neg>gg>ative reg>gg>ulator of cell differentiation. This transcript associates with enhancer of zeste homolog>gg> 2 to repress expression of the runt related transcription factor 2 g>gg>ene. Increased expression of this transcript may be associated with cancer. Alternatively spliced transcript variants have been observed. [provided by RefSeq, Dec 2016]

PPP2R2D Gene

protein phosphatase 2, reg>gg>ulatory subunit B, delta

Predicted to enable enzyme-substrate adaptor activity and protein phosphatase reg>gg>ulator activity. Predicted to be involved in exit from mitosis and reg>gg>ulation of chromosome seg>gg>reg>gg>ation. Predicted to be located in cytoplasm. Predicted to be part of protein phosphatase type 2A complex. Predicted to be active in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PPP2R2A Gene

protein phosphatase 2, reg>gg>ulatory subunit B, alpha

The product of this g>gg>ene belong>gg>s to the phosphatase 2 reg>gg>ulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the neg>gg>ative control of cell g>gg>rowth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant reg>gg>ulatory subunit, that associates with a variety of reg>gg>ulatory subunits. The B reg>gg>ulatory subunit mig>gg>ht modulate substrate selectivity and catalytic activity. This g>gg>ene encodes an alpha isoform of the reg>gg>ulatory subunit B55 subfamily. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]

PPP2R2C Gene

protein phosphatase 2, reg>gg>ulatory subunit B, g>gg>amma

The product of this g>gg>ene belong>gg>s to the phosphatase 2 reg>gg>ulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the neg>gg>ative control of cell g>gg>rowth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant reg>gg>ulatory subunit, that associates with a variety of reg>gg>ulatory subunits. The B reg>gg>ulatory subunit mig>gg>ht modulate substrate selectivity and catalytic activity. This g>gg>ene encodes a g>gg>amma isoform of the reg>gg>ulatory subunit B55 subfamily. Alternatively spliced transcript variants encoding>gg> different isoforms have been identified. [provided by RefSeq, Jul 2008]

PPP2R2B Gene

protein phosphatase 2, reg>gg>ulatory subunit B, beta

The product of this g>gg>ene belong>gg>s to the phosphatase 2 reg>gg>ulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the neg>gg>ative control of cell g>gg>rowth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant reg>gg>ulatory subunit, that associates with a variety of reg>gg>ulatory subunits. The B reg>gg>ulatory subunit mig>gg>ht modulate substrate selectivity and catalytic activity. This g>gg>ene encodes a beta isoform of the reg>gg>ulatory subunit B55 subfamily. Defects in this g>gg>ene cause autosomal dominant spinocerebellar ataxia 12 (SCA12), a disease caused by deg>gg>eneration of the cerebellum, sometimes involving>gg> the brainstem and spinal cord, and in resulting>gg> in poor coordination of speech and body movements. Multiple alternatively spliced variants, which encode different isoforms, have been identified for this g>gg>ene. The 5' UTR of some of these variants includes a CAg>Gg> trinucleotide repeat sequence (7-28 copies) that can be expanded to 55-78 copies in cases of SCA12. [provided by RefSeq, Jul 2016]

CEP89 Gene

centrosomal protein 89kDa

Involved in non-motile cilium assembly. Acts upstream of or within cilium assembly. Located in several cellular components, including>gg> microtubule cytoskeleton; mitochondrial intermembrane space; and non-motile cilium. Part of ciliary transition fiber. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>C Gene

g>gg>roup-specific component (vitamin D binding>gg> protein)

The protein encoded by this g>gg>ene belong>gg>s to the albumin g>gg>ene family. It is a multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and on the surface of many cell types. It binds to vitamin D and its plasma metabolites and transports them to targ>gg>et tissues. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene.[provided by RefSeq, Feb 2011]

CEP83 Gene

centrosomal protein 83kDa

The protein encoded by this g>gg>ene is a centriolar protein involved in primary cilium assembly. Defects in this g>gg>ene have been associated with infantile nephronophthisis and intellectual disability. [provided by RefSeq, Oct 2016]

CEP85 Gene

centrosomal protein 85kDa

This g>gg>ene encodes a protein that belong>gg>s to the centrosome-associated family of proteins. The centrosome is a subcellular org>gg>anelle in the animal cell that functions as a microtubule org>gg>anizing>gg> center and is involved in cell-cycle prog>gg>ression. Alternate splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2013]

TTK Gene

TTK protein kinase

This g>gg>ene encodes a dual specificity protein kinase with the ability to phosphorylate tyrosine, serine and threonine. Associated with cell proliferation, this protein is essential for chromosome alig>gg>nment at the centromere during>gg> mitosis and is required for centrosome duplication. It has been found to be a critical mitotic checkpoint protein for accurate seg>gg>reg>gg>ation of chromosomes during>gg> mitosis. Tumorig>gg>enesis may occur when this protein fails to deg>gg>rade and produces excess centrosomes resulting>gg> in aberrant mitotic spindles. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Nov 2009]

TMEM265 Gene

transmembrane protein 265

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM263 Gene

transmembrane protein 263

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM260 Gene

transmembrane protein 260

Enables dolichyl-phosphate-mannose-protein mannosyltransferase activity. Involved in protein maturation. Is active in endoplasmic reticulum membrane. Implicated in T-cell non-Hodg>gg>kin lymphoma; non-Hodg>gg>kin lymphoma; and stomach cancer. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM261 Gene

transmembrane protein 261

Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrial inner membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

DAP3 Gene

death associated protein 3

Mammalian mitochondrial ribosomal proteins are encoded by nuclear g>gg>enes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a larg>gg>e 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among>gg> different species, the proteins comprising>gg> the mitoribosome differ g>gg>reatly in sequence, and sometimes in biochemical properties, which prevents easy recog>gg>nition by sequence homolog>gg>y. This g>gg>ene encodes a 28S subunit protein that also participates in apoptotic pathways which are initiated by tumor necrosis factor-alpha, Fas lig>gg>and, and g>gg>amma interferon. This protein potentially binds ATP/g>Gg>TP and mig>gg>ht be a functional partner of the mitoribosomal protein S27. Multiple alternatively spliced transcript variants encoding>gg> distinct isoforms have been found for this g>gg>ene. Pseudog>gg>enes corresponding>gg> to this g>gg>ene are found on chromosomes 1q and 2q. [provided by RefSeq, Dec 2010]

TMEM190 Gene

transmembrane protein 190

Predicted to enable identical protein binding>gg> activity. Predicted to be involved in hematopoietic prog>gg>enitor cell differentiation. Located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MRPS21P8 Gene

mitochondrial ribosomal protein S21 pseudog>gg>ene 8

TMEM192 Gene

transmembrane protein 192

Enables protein homodimerization activity. Located in several cellular components, including>gg> late endosome; lysosomal membrane; and perinuclear reg>gg>ion of cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM196 Gene

transmembrane protein 196

Involved in several processes, including>gg> neg>gg>ative reg>gg>ulation of cell g>gg>rowth; neg>gg>ative reg>gg>ulation of cell mig>gg>ration; and positive reg>gg>ulation of apoptotic process. Located in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MRPS21P1 Gene

mitochondrial ribosomal protein S21 pseudog>gg>ene 1

TMEM199 Gene

transmembrane protein 199

The protein encoded by this g>gg>ene has been observed to localize to the endoplasmic reticulum (ER)-g>Gg>olg>gg>i intermediate compartment (ERg>Gg>IC) and coat protein complex I (COPI) in some human cells. The encoded protein shares some homolog>gg>y with the yeast protein Vma12. Defects in this g>gg>ene are a cause of cong>gg>enital disorder of g>gg>lycosylation, type IIp. [provided by RefSeq, Mar 2016]

MRPS21P3 Gene

mitochondrial ribosomal protein S21 pseudog>gg>ene 3

MRPS21P2 Gene

mitochondrial ribosomal protein S21 pseudog>gg>ene 2

MRPS21P5 Gene

mitochondrial ribosomal protein S21 pseudog>gg>ene 5

MRPS21P6 Gene

mitochondrial ribosomal protein S21 pseudog>gg>ene 6

LOC100127962 Gene

coiled-coil serine-rich protein 2 pseudog>gg>ene

LOC100127965 Gene

ribosomal protein L7-like 1 pseudog>gg>ene

PELI1 Gene

pellino E3 ubiquitin protein lig>gg>ase 1

Enables ubiquitin-ubiquitin lig>gg>ase activity. Involved in several processes, including>gg> neg>gg>ative reg>gg>ulation of TORC1 sig>gg>naling>gg>; neg>gg>ative reg>gg>ulation of necroptotic process; and protein polyubiquitination. Is active in site of double-strand break. Implicated in colorectal cancer. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PELI3 Gene

pellino E3 ubiquitin protein lig>gg>ase family member 3

The protein encoded by this g>gg>ene is a scaffold protein and an intermediate sig>gg>naling>gg> protein in the innate immune response pathway. The encoded protein helps transmit the immune response sig>gg>nal from Toll-like g>receptorg>s to IRAK1/TRAF6 complexes. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene.[provided by RefSeq, Jul 2011]

PELI2 Gene

pellino E3 ubiquitin protein lig>gg>ase family member 2

Predicted to enable protein-macromolecule adaptor activity and ubiquitin protein lig>gg>ase activity. Acts upstream of or within positive reg>gg>ulation of MAPK cascade and positive reg>gg>ulation of protein phosphorylation. Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC102723815 Gene

disinteg>gg>rin and metalloproteinase domain-containing>gg> protein 29-like

FLJ30679 Gene

uncharacterized protein FLJ30679

SRPK1 Gene

SRSF protein kinase 1

This g>gg>ene encodes a serine/arg>gg>inine protein kinase specific for the SR (serine/arg>gg>inine-rich domain) family of splicing>gg> factors. The protein localizes to the nucleus and the cytoplasm. It is thoug>gg>ht to play a role in reg>gg>ulation of both constitutive and alternative splicing>gg> by reg>gg>ulating>gg> intracellular localization of splicing>gg> factors. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants. Additional alternatively spliced transcript variants have been described for this g>gg>ene, but their full leng>gg>th nature have not been determined.[provided by RefSeq, Jul 2010]

SRPK3 Gene

SRSF protein kinase 3

This g>gg>ene encodes a protein kinase similar to a protein kinase which is specific for the SR (serine/arg>gg>inine-rich domain) family of splicing>gg> factors. A hig>gg>hly similar protein has been shown to play a role in muscle development in mice. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Dec 2009]

SRPK2 Gene

SRSF protein kinase 2

Enables ATP binding>gg> activity; mag>gg>nesium ion binding>gg> activity; and protein serine/threonine kinase activity. Involved in several processes, including>gg> R-loop processing>gg>; peptidyl-serine phosphorylation; and reg>gg>ulation of viral g>gg>enome replication. Located in chromatin; cytosol; and nuclear lumen. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

HSPE1P20 Gene

heat shock 10kDa protein 1 pseudog>gg>ene 20

ZNF322P1 Gene

zinc fing>gg>er protein 322 pseudog>gg>ene 1

LOC644387 Gene

myelin protein zero-like 1 pseudog>gg>ene

LOC101930047 Gene

uncharacterized protein FLJ46347-like

ZNF724P Gene

zinc fing>gg>er protein 724, pseudog>gg>ene

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TPT1P6 Gene

tumor protein, translationally-controlled 1 pseudog>gg>ene 6

OSBPL9P3 Gene

oxysterol binding>gg> protein-like 9 pseudog>gg>ene 3

TMEM44 Gene

transmembrane protein 44

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM47 Gene

transmembrane protein 47

This g>gg>ene encodes a member of the PMP22/EMP/claudin protein family. The encoded protein is localized to the ER and the plasma membrane. In dog>gg>s, transcripts of this g>gg>ene exist at hig>gg>h levels in the brain. [provided by RefSeq, Jul 2008]

TMEM40 Gene

transmembrane protein 40

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM43 Gene

transmembrane protein 43

This g>gg>ene belong>gg>s to the TMEM43 family. Defects in this g>gg>ene are the cause of familial arrhythmog>gg>enic rig>gg>ht ventricular dysplasia type 5 (ARVD5), also known as arrhythmog>gg>enic rig>gg>ht ventricular cardiomyopathy type 5 (ARVC5). Arrhythmog>gg>enic rig>gg>ht ventricular dysplasia is an inherited disorder, often involving>gg> both ventricles, and is characterized by ventricular tachycardia, heart failure, sudden cardiac death, and fibrofatty replacement of cardiomyocytes. This g>gg>ene contains a response element for PPAR g>gg>amma (an adipog>gg>enic transcription factor), which may explain the fibrofatty replacement of the myocardium, a characteristic patholog>gg>ical finding>gg> in ARVC. [provided by RefSeq, Oct 2008]

TMEM42 Gene

transmembrane protein 42

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF600 Gene

zinc fing>gg>er protein 600

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF606 Gene

zinc fing>gg>er protein 606

This g>gg>ene encodes a zinc fing>gg>er protein containing>gg> a Kruppel-associated box (KRAB) domain at its N-terminus, followed by contig>gg>uous C2H2 zinc fing>gg>er motifs. The encoded protein is a nuclear protein that can act as a transcriptional repressor of g>gg>rowth factor-mediated sig>gg>naling>gg> pathways in a reporter g>gg>ene assay. This protein has been shown to interact with the SRY-box 9 g>gg>ene product, and suppresses its transcriptional activity by inhibiting>gg> its DNA binding>gg> activity. Reduced expression of this g>gg>ene promotes chondrocyte differentiation. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Dec 2016]

ZNF607 Gene

zinc fing>gg>er protein 607

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in mitochondrial inner membrane. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF608 Gene

zinc fing>gg>er protein 608

Predicted to enable metal ion binding>gg> activity. Predicted to be involved in neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF609 Gene

zinc fing>gg>er protein 609

Predicted to enable promoter-specific chromatin binding>gg> activity. Involved in reg>gg>ulation of myoblast proliferation. Located in nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>CA Gene

g>gg>rancalcin, EF-hand calcium binding>gg> protein

This g>gg>ene encodes a calcium-binding>gg> protein that is abundant in neutrophils and macrophag>gg>es. In the absence of divalent cation, this protein localizes to the cytosolic fraction; with mag>gg>nesium alone, it partitions with the g>gg>ranule fraction; and in the presence of mag>gg>nesium and calcium, it associates with both the g>gg>ranule and membrane fractions. Alternative splicing>gg> and use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Aug>gg> 2016]

RPL21P47 Gene

ribosomal protein L21 pseudog>gg>ene 47

RPL21P45 Gene

ribosomal protein L21 pseudog>gg>ene 45

RPL21P44 Gene

ribosomal protein L21 pseudog>gg>ene 44

RPS26P25 Gene

ribosomal protein S26 pseudog>gg>ene 25

Althoug>gg>h this locus has an open reading>gg> frame that could produce a protein of the same or nearly the same size as that of the RPS26 g>gg>ene, there is no evidence of transcription. The locus is thus being>gg> annotated as a pseudog>gg>ene.[provided by RefSeq, Feb 2009]

PROZ Gene

protein Z, vitamin K-dependent plasma g>gg>lycoprotein

This g>gg>ene encodes a liver vitamin K-dependent g>gg>lycoprotein that is synthesized in the liver and secreted into the plasma. The encoded protein plays a role in reg>gg>ulating>gg> blood coag>gg>ulation by complexing>gg> with protein Z-dependent protease inhibitor to directly inhibit activated factor X at the phospholipid surface. Deficiencies in this protein are associated with an increased risk of ischemic arterial diseases and fetal loss. Mutations in this g>gg>ene are the cause of protein Z deficiency. Alternate splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jan 2012]

RPL21P41 Gene

ribosomal protein L21 pseudog>gg>ene 41

XAg>Gg>E-4 Gene

XAg>Gg>E-4 protein

RPL21P49 Gene

ribosomal protein L21 pseudog>gg>ene 49

RPL21P48 Gene

ribosomal protein L21 pseudog>gg>ene 48

LOC100419786 Gene

zinc fing>gg>er protein 670 pseudog>gg>ene

LOC100419784 Gene

zinc fing>gg>er protein 484 pseudog>gg>ene

LINC00657 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 657

Predicted to enable protein sequestering>gg> activity. Predicted to be involved in several processes, including>gg> determination of adult lifespan; hair follicle development; and skeletal muscle fiber development. Predicted to be active in cytoplasm. Biomarker of lung>gg> non-small cell carcinoma. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100419782 Gene

zinc fing>gg>er protein 717 pseudog>gg>ene

LOC100419783 Gene

zinc fing>gg>er protein 831 pseudog>gg>ene

LOC100419780 Gene

zinc fing>gg>er protein 479 pseudog>gg>ene

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100419781 Gene

zinc fing>gg>er protein 267 pseudog>gg>ene

PROC Gene

protein C (inactivator of coag>gg>ulation factors Va and VIIIa)

This g>gg>ene encodes a vitamin K-dependent plasma g>gg>lycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease domain and functions in deg>gg>radation of the activated forms of coag>gg>ulation factors V and VIII. Mutations in this g>gg>ene have been associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous thrombosis.[provided by RefSeq, Dec 2009]

CYLC1 Gene

cylicin, basic protein of sperm head cytoskeleton 1

This g>gg>ene encodes a sperm head cytoskeletal protein. The encoded protein is associated with the calyx of spermatozoa and spermatids. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Nov 2012]

CYLC2 Gene

cylicin, basic protein of sperm head cytoskeleton 2

Cylicin II (CYCL2) is specifically expressed in testis and is part of the cytoskeletal calyx of mammalian sperm heads. Cylicin II may play a role in the morphog>gg>enesis of the sperm head. [provided by RefSeq, Jul 2008]

TSPY6P Gene

testis specific protein, Y-linked 6, pseudog>gg>ene

ENKUR Gene

enkurin, TRPC channel interacting>gg> protein

This g>gg>ene encodes a protein that interacts with calmodulin and several transient g>receptorg> potential canonical cation channel proteins. The encoded protein may function as an adaptor to localize sig>gg>nal transduction machinery to calcium channels. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jun 2012]

LOC100419257 Gene

ribosomal protein S2 pseudog>gg>ene

RPS4X Gene

ribosomal protein S4, X-linked

Cytoplasmic ribosomes, org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes ribosomal protein S4, a component of the 40S subunit. Ribosomal protein S4 is the only ribosomal protein known to be encoded by more than one g>gg>ene, namely this g>gg>ene and ribosomal protein S4, Y-linked (RPS4Y). The 2 isoforms encoded by these g>gg>enes are not identical, but are functionally equivalent. Ribosomal protein S4 belong>gg>s to the S4E family of ribosomal proteins. This g>gg>ene is not subject to X-inactivation. It has been sug>gg>g>gg>ested that haploinsufficiency of the ribosomal protein S4 g>gg>enes plays a role in Turner syndrome; however, this hypothesis is controversial. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

LOC100652976 Gene

ankyrin repeat domain-containing>gg> protein 33B-like

SDCBP2 Gene

syndecan binding>gg> protein (syntenin) 2

The protein encoded by this g>gg>ene contains two class II PDZ domains. PDZ domains facilitate protein-protein interactions by binding>gg> to the cytoplasmic C-terminus of transmembrane proteins, and PDZ-containing>gg> proteins mediate cell sig>gg>naling>gg> and the org>gg>anization of protein complexes. The encoded protein binds to phosphatidylinositol 4, 5-bisphosphate (PIP2) and plays a role in nuclear PIP2 org>gg>anization and cell division. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. Read-throug>gg>h transcription also exists between this g>gg>ene and the upstream FKBP1A (FK506 binding>gg> protein 1A, 12kDa) g>gg>ene, as represented in g>Gg>eneID:100528031. [provided by RefSeq, Sep 2011]

SNAPIN Gene

SNAP-associated protein

The protein encoded by this g>gg>ene is a coiled-coil-forming>gg> protein that associates with the SNARE (soluble N-ethylmaleimide-sensitive fusion protein attachment protein g>receptorg>) complex of proteins and the BLOC-1 (biog>gg>enesis of lysosome-related org>gg>anelles) complex. Biochemical studies have identified additional binding>gg> partners. As part of the SNARE complex, it is required for vesicle docking>gg> and fusion and reg>gg>ulates neurotransmitter release. The BLOC-1 complex is required for the biog>gg>enesis of specialized org>gg>anelles such as melanosomes and platelet dense g>gg>ranules. Mutations in g>gg>ene products that form the BLOC-1 complex have been identified in mouse strains that are models of Hermansky-Pudlak syndrome. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jun 2012]

LOC642692 Gene

centrosomal protein 19kDa pseudog>gg>ene

LOC677762 Gene

Sin3A-associated protein, 30kDa pseudog>gg>ene

YWHABP2 Gene

tyrosine 3-monooxyg>gg>enase/tryptophan 5-monooxyg>gg>enase activation protein, beta pseudog>gg>ene 2

YWHABP1 Gene

tyrosine 3-monooxyg>gg>enase/tryptophan 5-monooxyg>gg>enase activation protein, beta pseudog>gg>ene 1

CDY21P Gene

chromodomain protein, Y-linked 21 pseudog>gg>ene

TONSL Gene

tonsoku-like, DNA repair protein

The protein encoded by this g>gg>ene is thoug>gg>ht to be a neg>gg>ative reg>gg>ulator of NF-kappa-B mediated transcription. The encoded protein may bind NF-kappa-B complexes and trap them in the cytoplasm, preventing>gg> them from entering>gg> the nucleus and interacting>gg> with the DNA. Phosphorylation of this protein targ>gg>ets it for deg>gg>radation by the ubiquitination pathway, which frees the NF-kappa-B complexes to enter the nucleus. [provided by RefSeq, Jul 2008]

LOC150051 Gene

homeobox protein cut-like 1

PEBP1P3 Gene

phosphatidylethanolamine binding>gg> protein 1 pseudog>gg>ene 3

PEBP1P2 Gene

phosphatidylethanolamine binding>gg> protein 1 pseudog>gg>ene 2

PEBP1P1 Gene

phosphatidylethanolamine binding>gg> protein 1 pseudog>gg>ene 1

RNF152P1 Gene

ring>gg> fing>gg>er protein 152 pseudog>gg>ene 1

FLJ25613 Gene

uncharacterized protein FLJ25613

CMIP Gene

c-Maf inducing>gg> protein

This g>gg>ene encodes a c-Maf inducing>gg> protein that plays a role in T-cell sig>gg>naling>gg> pathway. Alternatively spliced transcript variants encoding>gg> different isoforms have been described for this g>gg>ene. [provided by RefSeq, Aug>gg> 2011]

HCP5 Gene

HLA complex P5 (non-protein coding>gg>)

RPS3AP38 Gene

ribosomal protein S3a pseudog>gg>ene 38

FLJ23519 Gene

uncharacterized protein FLJ23519

TPRg>Gg>1L Gene

tumor protein p63 reg>gg>ulated 1-like

Predicted to enable calmodulin binding>gg> activity and identical protein binding>gg> activity. Predicted to be involved in presynaptic modulation of chemical synaptic transmission; reg>gg>ulation of g>gg>lutamaterg>gg>ic synaptic transmission; and reg>gg>ulation of synaptic vesicle exocytosis. Predicted to act upstream of or within calcineurin-NFAT sig>gg>naling>gg> cascade; neg>gg>ative reg>gg>ulation of synaptic transmission; and synaptic vesicle docking>gg>. Located in extracellular exosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TEDDM1 Gene

transmembrane epididymal protein 1

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MAP2K1P1 Gene

mitog>gg>en-activated protein kinase kinase 1 pseudog>gg>ene 1

PPP1R17 Gene

protein phosphatase 1, reg>gg>ulatory subunit 17

The protein encoded by this g>gg>ene is found primarily in cerebellar Purkinje cells, where it functions as a protein phosphatase inhibitor. The encoded protein is a substrate for cg>Gg>MP-dependent protein kinase. An allele of this g>gg>ene was discovered that increases susceptibility to hypercholesterolemia. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2010]

RPS7 Gene

ribosomal protein S7

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 40S subunit. The protein belong>gg>s to the S7E family of ribosomal proteins. It is located in the cytoplasm. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

RPS6 Gene

ribosomal protein S6

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a cytoplasmic ribosomal protein that is a component of the 40S subunit. The protein belong>gg>s to the S6E family of ribosomal proteins. It is the major substrate of protein kinases in the ribosome, with subsets of five C-terminal serine residues phosphorylated by different protein kinases. Phosphorylation is induced by a wide rang>gg>e of stimuli, including>gg> g>gg>rowth factors, tumor-promoting>gg> ag>gg>ents, and mitog>gg>ens. Dephosphorylation occurs at g>gg>rowth arrest. The protein may contribute to the control of cell g>gg>rowth and proliferation throug>gg>h the selective translation of particular classes of mRNA. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

RPS5 Gene

ribosomal protein S5

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 40S subunit. The protein belong>gg>s to the S7P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this g>gg>ene in colorectal cancers compared to adjacent normal tissues has been observed, althoug>gg>h no correlation between the level of expression and the severity of the disease has been found. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

RPS3 Gene

ribosomal protein S3

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 40S subunit, where it forms part of the domain where translation is initiated. The protein belong>gg>s to the S3P family of ribosomal proteins. Studies of the mouse and rat proteins have demonstrated that the protein has an extraribosomal role as an endonuclease involved in the repair of UV-induced DNA damag>gg>e. The protein appears to be located in both the cytoplasm and nucleus but not in the nucleolus. Hig>gg>her levels of expression of this g>gg>ene in colon adenocarcinomas and adenomatous polyps compared to adjacent normal colonic mucosa have been observed. This g>gg>ene is co-transcribed with the small nucleolar RNA g>gg>enes U15A and U15B, which are located in its first and fifth introns, respectively. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. Multiple alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, May 2012]

RPS2 Gene

ribosomal protein S2

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 40S subunit. The protein belong>gg>s to the S5P family of ribosomal proteins. It is located in the cytoplasm. This g>gg>ene shares sequence similarity with mouse LLRep3. It is co-transcribed with the small nucleolar RNA g>gg>ene U64, which is located in its third intron. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

RPL10P7 Gene

ribosomal protein L10 pseudog>gg>ene 7

RPS9 Gene

ribosomal protein S9

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 40S subunit. The protein belong>gg>s to the S4P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this g>gg>ene in colorectal cancers compared to adjacent normal tissues has been observed, althoug>gg>h no correlation between the level of expression and the severity of the disease has been found. As is typical for g>gg>enes encoding>gg> ribosomal proteins, multiple processed pseudog>gg>enes derived from this g>gg>ene are dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

RPS8 Gene

ribosomal protein S8

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 40S subunit. The protein belong>gg>s to the S8E family of ribosomal proteins. It is located in the cytoplasm. Increased expression of this g>gg>ene in colorectal tumors and colon polyps compared to matched normal colonic mucosa has been observed. This g>gg>ene is co-transcribed with the small nucleolar RNA g>gg>enes U38A, U38B, U39, and U40, which are located in its fourth, fifth, first, and second introns, respectively. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

LINC01301 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1301

ZNF285B Gene

zinc fing>gg>er protein 285B, pseudog>gg>ene

LINC01305 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1305

LINC01307 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1307

RPL23AP28 Gene

ribosomal protein L23a pseudog>gg>ene 28

RPSA Gene

ribosomal protein SA

Laminins, a family of extracellular matrix g>gg>lycoproteins, are the major noncollag>gg>enous constituent of basement membranes. They have been implicated in a wide variety of biolog>gg>ical processes including>gg> cell adhesion, differentiation, mig>gg>ration, sig>gg>naling>gg>, neurite outg>gg>rowth and metastasis. Many of the effects of laminin are mediated throug>gg>h interactions with cell surface g>receptorg>s. These g>receptorg>s include members of the integ>gg>rin family, as well as non-integ>gg>rin laminin-binding>gg> proteins. This g>gg>ene encodes a hig>gg>h-affinity, non-integ>gg>rin family, laminin g>receptorg> 1. This g>receptorg> has been variously called 67 kD laminin g>receptorg>, 37 kD laminin g>receptorg> precursor (37LRP) and p40 ribosome-associated protein. The amino acid sequence of laminin g>receptorg> 1 is hig>gg>hly conserved throug>gg>h evolution, sug>gg>g>gg>esting>gg> a key biolog>gg>ical function. It has been observed that the level of the laminin g>receptorg> transcript is hig>gg>her in colon carcinoma tissue and lung>gg> cancer cell line than their normal counterparts. Also, there is a correlation between the upreg>gg>ulation of this polypeptide in cancer cells and their invasive and metastatic phenotype. Multiple copies of this g>gg>ene exist, however, most of them are pseudog>gg>enes thoug>gg>ht to have arisen from retropositional events. Two alternatively spliced transcript variants encoding>gg> the same protein have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

TAPBP Gene

TAP binding>gg> protein (tapasin)

This g>gg>ene encodes a transmembrane g>gg>lycoprotein which mediates interaction between newly assembled major histocompatibility complex (MHC) class I molecules and the transporter associated with antig>gg>en processing>gg> (TAP), which is required for the transport of antig>gg>enic peptides across the endoplasmic reticulum membrane. This interaction is essential for optimal peptide loading>gg> on the MHC class I molecule. Up to four complexes of MHC class I and this protein may be bound to a sing>gg>le TAP molecule. This protein contains a C-terminal double-lysine motif (KKKAE) known to maintain membrane proteins in the endoplasmic reticulum. This g>gg>ene lies within the major histocompatibility complex on chromosome 6. Alternative splicing>gg> results in three transcript variants encoding>gg> different isoforms. [provided by RefSeq, Jul 2008]

MCM3AP Gene

minichromosome maintenance complex component 3 associated protein

The minichromosome maintenance protein 3 (MCM3) is one of the MCM proteins essential for the initiation of DNA replication. The protein encoded by this g>gg>ene is a MCM3 binding>gg> protein. It was reported to have phosphorylation-dependent DNA-primase activity, which was up-reg>gg>ulated in antig>gg>en immunization induced g>gg>erminal center. This protein was demonstrated to be an acetyltransferase that acetylates MCM3 and plays a role in DNA replication. The mutag>gg>enesis of a nuclear localization sig>gg>nal of MCM3 affects the binding>gg> of this protein with MCM3, sug>gg>g>gg>esting>gg> that this protein may also facilitate MCM3 nuclear localization. This g>gg>ene is expressed in the brain or in neuronal tissue. An allelic variant encoding>gg> amino acid Lys at 915, instead of conserved g>Gg>lu, has been identified in patients with mild intellectual disability. [provided by RefSeq, Jan 2014]

LINC01477 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1477

LINC01476 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1476

LINC01475 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1475

LINC01474 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1474

RPL29 Gene

ribosomal protein L29

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a cytoplasmic ribosomal protein that is a component of the 60S subunit. The protein belong>gg>s to the L29E family of ribosomal proteins. The protein is also a peripheral membrane protein expressed on the cell surface that directly binds heparin. Althoug>gg>h this g>gg>ene was previously reported to map to 3q29-qter, it is believed that it is located at 3p21.3-p21.2. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

RPL28 Gene

ribosomal protein L28

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 60S subunit. The protein belong>gg>s to the L28E family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this g>gg>ene in colorectal cancers compared to adjacent normal tissues has been observed, althoug>gg>h no correlation between the level of expression and the severity of the disease has been found. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. Alternative splicing>gg> results in multiple transcript variants encoding>gg> distinct isoforms.[provided by RefSeq, Oct 2008]

LINC01471 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1471

LINC01470 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1470

RPL24 Gene

ribosomal protein L24

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 60S subunit. The protein belong>gg>s to the L24E family of ribosomal proteins. It is located in the cytoplasm. This g>gg>ene has been referred to as ribosomal protein L30 because the encoded protein shares amino acid identity with the L30 ribosomal proteins from S. cerevisiae; however, its official name is ribosomal protein L24. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

RPL27 Gene

ribosomal protein L27

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a member of the L27e family of ribosomal proteins and a component of the 60S subunit. A splice site mutation in this g>gg>ene has been identified in a Diamond-Blackfan anemia (DBA) patient. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Mar 2017]

RPL26 Gene

ribosomal protein L26

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 60S subunit. The protein belong>gg>s to the L24P family of ribosomal proteins. It is located in the cytoplasm. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. Mutations in this g>gg>ene result in Diamond-Blackfan anemia. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Oct 2015]

RPL21 Gene

ribosomal protein L21

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 60S subunit. The protein belong>gg>s to the L21E family of ribosomal proteins. It is located in the cytoplasm. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

RPL23 Gene

ribosomal protein L23

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 60S subunit. The protein belong>gg>s to the L14P family of ribosomal proteins. It is located in the cytoplasm. This g>gg>ene has been referred to as rpL17 because the encoded protein shares amino acid identity with ribosomal protein L17 from Saccharomyces cerevisiae; however, its official symbol is RPL23. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

RPL22 Gene

ribosomal protein L22

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a cytoplasmic ribosomal protein that is a component of the 60S subunit. The protein belong>gg>s to the L22E family of ribosomal proteins. Its initiating>gg> methionine residue is post-translationally removed. The protein can bind specifically to Epstein-Barr virus-encoded RNAs (EBERs) 1 and 2. The mouse protein has been shown to be capable of binding>gg> to heparin. Transcript variants utilizing>gg> alternative polyA sig>gg>nals exist. As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. It was previously thoug>gg>ht that this g>gg>ene mapped to 3q26 and that it was fused to the acute myeloid leukemia 1 (AML1) g>gg>ene located at 21q22 in some therapy-related myelodysplastic syndrome patients with 3;21 translocations; however, these fusions actually involve a ribosomal protein L22 pseudog>gg>ene located at 3q26, and this g>gg>ene actually maps to 1p36.3-p36.2. [provided by RefSeq, Jul 2008]

ZNF729 Gene

zinc fing>gg>er protein 729

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPL23AP20 Gene

ribosomal protein L23a pseudog>gg>ene 20

LINC00434 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 434

LINC00431 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 431

RFPL4AP7 Gene

ret fing>gg>er protein-like 4A pseudog>gg>ene 7

SMPX Gene

small muscle protein, X-linked

This g>gg>ene encodes a small protein that has no known functional domains. Mutations in this g>gg>ene are a cause of X-linked deafness-4, and the encoded protein may play a role in the maintenance of inner ear cells subjected to mechanical stress. Alternatively spliced transcript variants have been observed for this g>gg>ene. [provided by RefSeq, Dec 2011]

LINC01511 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1511

LINC01512 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1512

ZNF585A Gene

zinc fing>gg>er protein 585A

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF585B Gene

zinc fing>gg>er protein 585B

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC01517 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1517

IFIT1B Gene

interferon-induced protein with tetratricopeptide repeats 1B

Predicted to enable RNA binding>gg> activity. Predicted to be involved in defense response to virus. Predicted to act upstream of or within cellular response to interferon-alpha; cellular response to interferon-beta; and response to bacterium. Predicted to be located in cytoplasm. Predicted to be active in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC648771 Gene

60S ribosomal protein L12-like

LOC442443 Gene

chromodomain Y-like protein pseudog>gg>ene

NEDD4 Gene

neural precursor cell expressed, developmentally down-reg>gg>ulated 4, E3 ubiquitin protein lig>gg>ase

This g>gg>ene is the founding>gg> member of the NEDD4 family of HECT ubiquitin lig>gg>ases that function in the ubiquitin proteasome system of protein deg>gg>radation. The encoded protein contains an N-terminal calcium and phospholipid binding>gg> C2 domain followed by multiple tryptophan-rich WW domains and, a C-terminal HECT ubiquitin lig>gg>ase catalytic domain. It plays critical role in the reg>gg>ulation of a number of membrane g>receptorg>s, endocytic machinery components and the tumor suppressor PTEN. [provided by RefSeq, Jul 2016]

LINC01504 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1504

NEURL1 Gene

neuralized E3 ubiquitin protein lig>gg>ase 1

Predicted to enable translation factor activity, non-nucleic acid binding>gg> and ubiquitin protein lig>gg>ase activity. Involved in neg>gg>ative reg>gg>ulation of Notch sig>gg>naling>gg> pathway; neg>gg>ative reg>gg>ulation of cell population proliferation; and positive reg>gg>ulation of apoptotic process. Located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NEURL2 Gene

neuralized E3 ubiquitin protein lig>gg>ase 2

This g>gg>ene encodes a protein that is involved in the reg>gg>ulation of myofibril org>gg>anization. This protein is likely the adaptor component of the E3 ubiquitin lig>gg>ase complex in striated muscle, and it reg>gg>ulates the ubiquitin-mediated deg>gg>radation of beta-catenin during>gg> myog>gg>enesis. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants. [provided by RefSeq, Jun 2013]

NEURL3 Gene

neuralized E3 ubiquitin protein lig>gg>ase 3

Predicted to enable ubiquitin protein lig>gg>ase activity. Predicted to be involved in ubiquitin-dependent endocytosis. Predicted to act upstream of or within protein ubiquitination. Predicted to be located in cytoplasm. Predicted to be active in early endosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NEURL4 Gene

neuralized E3 ubiquitin protein lig>gg>ase 4

The protein encoded by this g>gg>ene is predicted and it includes two isoforms resulting>gg> from two alternatively spliced transcript variants. [provided by RefSeq, Jul 2008]

LOC407835 Gene

mitog>gg>en-activated protein kinase kinase 2 pseudog>gg>ene

MIR133A1Hg>Gg> Gene

MIR133A1 host g>gg>ene (non-protein coding>gg>)

Predicted to be involved in miRNA-mediated post-transcriptional g>gg>ene silencing>gg>. Predicted to be part of RISC complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

HSP90AA6P Gene

heat shock protein 90kDa alpha (cytosolic), class A member 6, pseudog>gg>ene

LOC100419848 Gene

zinc fing>gg>er protein 250 pseudog>gg>ene

LOC645481 Gene

zinc fing>gg>er protein 248 pseudog>gg>ene

RPL19P9 Gene

ribosomal protein L19 pseudog>gg>ene 9

RPL19P8 Gene

ribosomal protein L19 pseudog>gg>ene 8

RPL19P7 Gene

ribosomal protein L19 pseudog>gg>ene 7

RPL19P6 Gene

ribosomal protein L19 pseudog>gg>ene 6

RPL19P5 Gene

ribosomal protein L19 pseudog>gg>ene 5

RPL19P4 Gene

ribosomal protein L19 pseudog>gg>ene 4

RPL19P2 Gene

ribosomal protein L19 pseudog>gg>ene 2

RPL19P1 Gene

ribosomal protein L19 pseudog>gg>ene 1

PPP1R2P10 Gene

protein phosphatase 1, reg>gg>ulatory (inhibitor) subunit 2 pseudog>gg>ene 10

RPS27P3 Gene

ribosomal protein S27 pseudog>gg>ene 3

LOC388436 Gene

uncharacterized protein ENSP00000382042

RPS27P1 Gene

ribosomal protein S27 pseudog>gg>ene 1

RPS27P7 Gene

ribosomal protein S27 pseudog>gg>ene 7

RPS27P6 Gene

ribosomal protein S27 pseudog>gg>ene 6

RPS27P4 Gene

ribosomal protein S27 pseudog>gg>ene 4

FLJ44874 Gene

FLJ44874 protein

RPS27P9 Gene

ribosomal protein S27 pseudog>gg>ene 9

RPS27P8 Gene

ribosomal protein S27 pseudog>gg>ene 8

MYZAP Gene

myocardial zonula adherens protein

This g>gg>ene encodes a protein that is abundantly expressed in cardiac tissue. The encoded protein localizes to intercalated discs in cardiomyocytes and functions as an activator of Rho-dependent serum-response factor sig>gg>naling>gg>. Alternative splicing>gg> results in multiple transcript variants. Readthroug>gg>h transcription also exists between this g>gg>ene and the neig>gg>hboring>gg> downstream g>gg>ene POLR2M (polymerase (RNA) II (DNA directed) polypeptide M) and is represented with g>Gg>eneID: 145781. [provided by RefSeq, Mar 2014]

LOC100421288 Gene

cAMP responsive element binding>gg> protein 1 pseudog>gg>ene

LOC100421281 Gene

hig>gg>h density lipoprotein binding>gg> protein pseudog>gg>ene

LOC392264 Gene

zinc fing>gg>er protein 532 pseudog>gg>ene

RPL34P8 Gene

ribosomal protein L34 pseudog>gg>ene 8

RPL34P9 Gene

ribosomal protein L34 pseudog>gg>ene 9

LOC100129265 Gene

zinc fing>gg>er protein 66-like

RNF2P1 Gene

ring>gg> fing>gg>er protein 2 pseudog>gg>ene 1

LOC391768 Gene

TAF11 RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor, 28kDa pseudog>gg>ene

MUSTN1 Gene

musculoskeletal, embryonic nuclear protein 1

Predicted to be involved in g>gg>lucose homeostasis and positive reg>gg>ulation of myoblast differentiation. Predicted to act upstream of or within positive reg>gg>ulation of chondrocyte differentiation; positive reg>gg>ulation of chondrocyte proliferation; and positive reg>gg>ulation of macromolecule biosynthetic process. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS29P11 Gene

ribosomal protein S29 pseudog>gg>ene 11

WHAMMP3 Gene

WAS protein homolog>gg> associated with actin, g>gg>olg>gg>i membranes and microtubules pseudog>gg>ene 3

WHAMMP2 Gene

WAS protein homolog>gg> associated with actin, g>gg>olg>gg>i membranes and microtubules pseudog>gg>ene 2

WHAMMP1 Gene

WAS protein homolog>gg> associated with actin, g>gg>olg>gg>i membranes and microtubules pseudog>gg>ene 1

RPS29P10 Gene

ribosomal protein S29 pseudog>gg>ene 10

RPS29P15 Gene

ribosomal protein S29 pseudog>gg>ene 15

LOC348162 Gene

uncharacterized protein 348162

RPSAP30 Gene

ribosomal protein SA pseudog>gg>ene 30

RPS29P16 Gene

ribosomal protein S29 pseudog>gg>ene 16

SMLR1 Gene

small leucine-rich protein 1

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00238 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 238

LINC00239 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 239

LINC00235 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 235

ATRIP Gene

ATR interacting>gg> protein

This g>gg>ene encodes an essential component of the DNA damag>gg>e checkpoint. The encoded protein binds to sing>gg>le-stranded DNA coated with replication protein A. The protein also interacts with the ataxia telang>gg>iectasia and Rad3 related protein kinase, resulting>gg> in its accumulation at intranuclear foci induced by DNA damag>gg>e. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Aug>gg> 2012]

SPA17P1 Gene

sperm autoantig>gg>enic protein 17 pseudog>gg>ene 1

CREBBP Gene

CREB binding>gg> protein

This g>gg>ene is ubiquitously expressed and is involved in the transcriptional coactivation of many different transcription factors. First isolated as a nuclear protein that binds to cAMP-response element binding>gg> protein (CREB), this g>gg>ene is now known to play critical roles in embryonic development, g>gg>rowth control, and homeostasis by coupling>gg> chromatin remodeling>gg> to transcription factor recog>gg>nition. The protein encoded by this g>gg>ene has intrinsic histone acetyltransferase activity and also acts as a scaffold to stabilize additional protein interactions with the transcription complex. This protein acetylates both histone and non-histone proteins. This protein shares reg>gg>ions of very hig>gg>h sequence similarity with protein p300 in its bromodomain, cysteine-histidine-rich reg>gg>ions, and histone acetyltransferase domain. Mutations in this g>gg>ene cause Rubinstein-Taybi syndrome (RTS). Chromosomal translocations involving>gg> this g>gg>ene have been associated with acute myeloid leukemia. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Feb 2009]

TRNAU1AP Gene

tRNA selenocysteine 1 associated protein 1

Enables RNA binding>gg> activity. Predicted to be involved in selenocysteine incorporation. Predicted to be located in cytoplasm. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM126A Gene

transmembrane protein 126A

The protein encoded by this g>gg>ene is a mitochondrial membrane protein of unknown function. Defects in this g>gg>ene are a cause of optic atrophy type 7 (OPA7). Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Sep 2011]

TMEM126B Gene

transmembrane protein 126B

This g>gg>ene encodes a mitochondrial transmembrane protein which is a component of the mitochondrial complex I assembly complex. The encoded protein serves as an assembly factor that is required for formation of the membrane arm of the complex. It interacts with NADH dehydrog>gg>enase [ubiquinone] 1 alpha subcomplex assembly factor 13. Naturally occurring>gg> mutations in this g>gg>ene are associated with isolated complex I deficiency. A pseudog>gg>ene of this g>gg>ene has been defined on chromosome 9. [provided by RefSeq, Apr 2017]

LINC00900 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 900

LINC00901 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 901

LINC00903 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 903

LINC00904 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 904

LINC00905 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 905

LINC00906 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 906

LINC00907 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 907

LINC00908 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 908

LINC00397 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 397

TAF9B Gene

TAF9B RNA polymerase II, TATA box binding>gg> protein (TBP)-associated factor, 31kDa

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for reg>gg>ulatory sig>gg>nals. TFIID is composed of the TATA-binding>gg> protein (TBP) and a g>gg>roup of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recog>gg>nition or modify g>gg>eneral transcription factors (g>Gg>TFs) to facilitate complex assembly and transcription initiation. This g>gg>ene encodes a protein that is similar to one of the small subunits of TFIID, TBP-associated factor 9, and is also a subunit of TFIID. TAF9 and TAF9b share some functions but also have distinct roles in the transcriptional reg>gg>ulatory process. [provided by RefSeq, Jul 2008]

FAM90A19P Gene

putative protein FAM90A18/FAM90A19

FAM90A19 belong>gg>s to subfamily II of the primate-specific FAM90A g>gg>ene family, which orig>gg>inated from multiple duplications and rearrang>gg>ements (Bosch et al., 2007 [PubMed 17684299]). For backg>gg>round information on the FAM90A g>gg>ene family, as well as information on the evolution of FAM90A g>gg>enes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009]

LOC348958 Gene

mitochondrial ribosomal protein L10 pseudog>gg>ene

RLIM Gene

ring>gg> fing>gg>er protein, LIM domain interacting>gg>

The protein encoded by this g>gg>ene is a RINg>Gg>-H2 zinc fing>gg>er protein. It has been shown to be an E3 ubiquitin protein lig>gg>ase that targ>gg>ets LIM domain binding>gg> 1 (LDB1/CLIM), and causes proteasome-dependent deg>gg>radation of LDB1. This protein and LDB1 are co-repressors of LHX1/LIM-1, a homeodomain transcription factor. Multiple alternatively spliced variants, encoding>gg> the same protein, have been identified. [provided by RefSeq, Feb 2009]

CACYBPP2 Gene

calcyclin binding>gg> protein pseudog>gg>ene 2

MLX Gene

MLX, MAX dimerization protein

The product of this g>gg>ene belong>gg>s to the family of basic helix-loop-helix leucine zipper (bHLH-Zip) transcription factors. These factors form heterodimers with Mad proteins and play a role in proliferation, determination and differentiation. This g>gg>ene product may act to diversify Mad family function by its restricted association with a subset of the Mad family of transcriptional repressors, namely, Mad1 and Mad4. Alternatively spliced transcript variants encoding>gg> different isoforms have been identified for this g>gg>ene. [provided by RefSeq, Jul 2008]

PHF5FP Gene

PHD fing>gg>er protein 5F pseudog>gg>ene

LOC100419923 Gene

density-reg>gg>ulated protein pseudog>gg>ene

CWC27 Gene

CWC27 spliceosome-associated protein homolog>gg> (S. cerevisiae)

Predicted to enable peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in protein folding>gg>. Located in nucleoplasm. Part of U2-type precatalytic spliceosome and catalytic step 2 spliceosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CWC25 Gene

CWC25 spliceosome-associated protein homolog>gg> (S. cerevisiae)

This g>gg>ene encodes a factor that is part of the multi-protein C complex involved in pre-mRNA splicing>gg>. Alternatively spliced transcripts have been described for this g>gg>ene. [provided by RefSeq, Nov 2012]

CWC22 Gene

CWC22 spliceosome-associated protein

Enables RNA binding>gg> activity. Involved in mRNA splicing>gg>, via spliceosome. Located in cytosol and nuclear speck. Part of U2-type catalytic step 1 spliceosome; U2-type catalytic step 2 spliceosome; and U2-type precatalytic spliceosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC645135 Gene

zinc fing>gg>er protein 532 pseudog>gg>ene

3.8-1.3 Gene

HLA complex g>gg>roup 26 (non-protein coding>gg>) pseudog>gg>ene

PPP2R5CP Gene

protein phosphatase 2, reg>gg>ulatory subunit B', g>gg>amma pseudog>gg>ene

LOC105379480 Gene

putative uncharacterized protein SPANXA2-OT1

SPRR2E Gene

small proline-rich protein 2E

This g>gg>ene encodes a member of a family of small proline-rich proteins clustered in the epidermal differentiation complex on chromosome 1q21. The encoded protein, along>gg> with other family members, is a component of the cornified cell envelope that forms beneath the plasma membrane in terminally differentiated stratified squamous epithelia. This envelope serves as a barrier ag>gg>ainst extracellular and environmental factors. The seven SPRR2 g>gg>enes (A-g>Gg>) appear to have been homog>gg>enized by g>gg>ene conversion compared to others in the cluster that exhibit g>gg>reater differences in protein structure. [provided by RefSeq, Feb 2014]

SPRR2D Gene

small proline-rich protein 2D

Predicted to be involved in female g>gg>onad development. Predicted to act upstream of or within response to estradiol. Located in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SPRR2g>Gg> Gene

small proline-rich protein 2g>Gg>

Predicted to be involved in keratinocyte differentiation. Predicted to act upstream of or within response to estradiol. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SPRR2F Gene

small proline-rich protein 2F

Predicted to be involved in keratinocyte differentiation. Predicted to act upstream of or within response to estradiol. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SPRR2A Gene

small proline-rich protein 2A

Enables lipid binding>gg> activity. Involved in antibacterial humoral response and defense response to g>Gg>ram-positive bacterium. Located in cytoplasm. Is active in extracellular reg>gg>ion and secretory g>gg>ranule. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SPRR2C Gene

small proline-rich protein 2C (pseudog>gg>ene)

SPRR2B Gene

small proline-rich protein 2B

Predicted to be involved in keratinocyte differentiation. Predicted to act upstream of or within response to estradiol. Predicted to be located in cornified envelope and cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC644265 Gene

capping>gg> protein (actin filament) muscle Z-line, beta pseudog>gg>ene

LOC644269 Gene

g>Gg> protein pathway suppressor 1 pseudog>gg>ene

RPL23AP54 Gene

ribosomal protein L23a pseudog>gg>ene 54

PPBPP1 Gene

pro-platelet basic protein pseudog>gg>ene 1

LOC105379733 Gene

putative uncharacterized protein FLJ46235

LINC00572 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 572

LINC00575 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 575

LINC00574 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 574

LINC00577 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 577

LOC102724062 Gene

protein FAM153B-like

LINC01587 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1587

This g>gg>ene is expressed in neuroblastoma; however, the function of this g>gg>ene is not yet determined. [provided by RefSeq, Jul 2008]

LINC01584 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1584

HS1BP3 Gene

HCLS1 binding>gg> protein 3

The protein encoded by this g>gg>ene shares similarity with mouse Hs1bp3, an Hcls1/Hs1-interacting>gg> protein that may be involved in lymphocyte activation. [provided by RefSeq, Jul 2008]

ASB11 Gene

ankyrin repeat and SOCS box containing>gg> 11, E3 ubiquitin protein lig>gg>ase

The protein encoded by this g>gg>ene is a member of the ankyrin repeat and SOCS box-containing>gg> (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine sig>gg>nalling>gg> (SOCS) proteins and their binding>gg> partners with the elong>gg>in B and C complex, possibly targ>gg>eting>gg> them for deg>gg>radation. Alternatively spliced transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jan 2011]

ZNF300P1 Gene

zinc fing>gg>er protein 300 pseudog>gg>ene 1 (functional)

IKBIP Gene

IKBKB interacting>gg> protein

Predicted to be involved in response to X-ray. Located in endoplasmic reticulum and nucleolus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100132202 Gene

g>gg>olg>gg>in subfamily A member 6-like protein 22

CEP164 Gene

centrosomal protein 164kDa

This g>gg>ene encodes a centrosomal protein involved in microtubule org>gg>anization, DNA damag>gg>e response, and chromosome seg>gg>reg>gg>ation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this g>gg>ene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Dec 2012]

RPL21P109 Gene

ribosomal protein L21 pseudog>gg>ene 109

LINC00622 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 622

RPL21P101 Gene

ribosomal protein L21 pseudog>gg>ene 101

RPL21P100 Gene

ribosomal protein L21 pseudog>gg>ene 100

RPL21P103 Gene

ribosomal protein L21 pseudog>gg>ene 103

RPL21P102 Gene

ribosomal protein L21 pseudog>gg>ene 102

RPL21P105 Gene

ribosomal protein L21 pseudog>gg>ene 105

RPL21P104 Gene

ribosomal protein L21 pseudog>gg>ene 104

RPL21P107 Gene

ribosomal protein L21 pseudog>gg>ene 107

RPL21P106 Gene

ribosomal protein L21 pseudog>gg>ene 106

CFAP97 Gene

cilia and flag>gg>ella associated protein 97

Predicted to be involved in spermatog>gg>enesis. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC01054 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1054

XRCC6BP1 Gene

XRCC6 binding>gg> protein 1

The protein encoded by this g>gg>ene is amplified in g>gg>lioblastomas and interacts with the DNA binding>gg> subunit of DNA-dependent protein kinase. This kinase is involved in double-strand break repair (DSB), and hig>gg>her expression of the encoded protein increases the efficiency of DSB. In addition, comparison to ortholog>gg>ous proteins strong>gg>ly sug>gg>g>gg>ests that this protein is a metalloprotease important in the biosynthesis of mitochondrial ATPase. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Feb 2016]

LINC01058 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1058

FKBP4P8 Gene

FK506 binding>gg> protein 4, 59kDa pseudog>gg>ene 8

FKBP4P2 Gene

FK506 binding>gg> protein 4, 59kDa pseudog>gg>ene 2

FKBP4P1 Gene

FK506 binding>gg> protein 4, 59kDa pseudog>gg>ene 1

FKBP4P7 Gene

FK506 binding>gg> protein 4, 59kDa pseudog>gg>ene 7

LOC102723822 Gene

nucleolar g>Gg>TP-binding>gg> protein 1-like

BMP10 Gene

bone morphog>gg>enetic protein 10

This g>gg>ene encodes a secreted lig>gg>and of the Tg>Gg>F-beta (transforming>gg> g>gg>rowth factor-beta) superfamily of proteins. Lig>gg>ands of this family bind various Tg>Gg>F-beta g>receptorg>s leading>gg> to recruitment and activation of SMAD family transcription factors that reg>gg>ulate g>gg>ene expression. The encoded preproprotein is proteolytically processed to g>gg>enerate the mature protein, which binds to the activin g>receptorg>-like kinase 1 (ALK1) and plays important roles in cardiovascular development including>gg> cardiomyocyte proliferation and reg>gg>ulation of heart size, closure of the ductus arteriosus, ang>gg>iog>gg>enesis and ventricular trabeculation. [provided by RefSeq, Aug>gg> 2016]

BMP15 Gene

bone morphog>gg>enetic protein 15

This g>gg>ene encodes a secreted lig>gg>and of the Tg>Gg>F-beta (transforming>gg> g>gg>rowth factor-beta) superfamily of proteins. Lig>gg>ands of this family bind various Tg>Gg>F-beta g>receptorg>s leading>gg> to recruitment and activation of SMAD family transcription factors that reg>gg>ulate g>gg>ene expression. The encoded preproprotein is proteolytically processed to g>gg>enerate subunits of a disulfide-linked homodimer, or alternatively, a heterodimer, with the related protein, g>gg>rowth differentiation factor 9 (g>Gg>DF9). This protein plays a role in oocyte maturation and follicular development, throug>gg>h activation of g>gg>ranulosa cells. Defects in this g>gg>ene are the cause of ovarian dysg>gg>enesis and are associated with premature ovarian failure. [provided by RefSeq, Aug>gg> 2016]

RPL36P20 Gene

ribosomal protein L36 pseudog>gg>ene 20

LOC101929738 Gene

putative POM121-like protein 1

TMEM106B Gene

transmembrane protein 106B

Enables ATPase binding>gg> activity. Involved in dendrite morphog>gg>enesis and lysosome localization. Located in endosome and lysosomal membrane. Implicated in hypomyelinating>gg> leukodystrophy 16. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM106C Gene

transmembrane protein 106C

Predicted to be located in endoplasmic reticulum membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM106A Gene

transmembrane protein 106A

Predicted to be involved in several processes, including>gg> g>gg>lycoprotein biosynthetic process; positive reg>gg>ulation of intracellular sig>gg>nal transduction; and positive reg>gg>ulation of macromolecule biosynthetic process. Predicted to be located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SP110 Gene

SP110 nuclear body protein

The nuclear body is a multiprotein complex that may have a role in the reg>gg>ulation of g>gg>ene transcription. This g>gg>ene is a member of the SP100/SP140 family of nuclear body proteins and encodes a leukocyte-specific nuclear body component. The protein can function as an activator of g>gg>ene transcription and may serve as a nuclear hormone g>receptorg> coactivator. In addition, it has been sug>gg>g>gg>ested that the protein may play a role in ribosome biog>gg>enesis and in the induction of myeloid cell differentiation. Alternative splicing>gg> has been observed for this g>gg>ene and three transcript variants, encoding>gg> distinct isoforms, have been identified. [provided by RefSeq, Jul 2008]

BMP6P1 Gene

bone morphog>gg>enetic protein 6 pseudog>gg>ene 1

ZNF197 Gene

zinc fing>gg>er protein 197

This g>gg>ene product belong>gg>s to the zinc fing>gg>er protein superfamily, members of which are reg>gg>ulatory proteins characterized by nucleic acid-binding>gg> zinc fing>gg>er domains. The encoded protein contains 20 tandemly arrayed C2H2-type zinc fing>gg>ers, a Kruppel-associated box (KRAB) domain, and a SCAN box. This transcript turns over rapidly and contains 3' UTR AUUUA motifs, which are often a hallmark of rapid turnover. It is overexpressed in some thyroid papillary carcinomas. This g>gg>ene is located in a cluster of zinc fing>gg>er g>gg>enes at 3p21. Naturally-occurring>gg> readthroug>gg>h transcription is observed between this g>gg>ene and the upstream zinc fing>gg>er protein 660 g>gg>ene and is represented by g>Gg>eneID:110354863. [provided by RefSeq, May 2017]

ZNF195 Gene

zinc fing>gg>er protein 195

This g>gg>ene encodes a protein belong>gg>ing>gg> to the Krueppel C2H2-type zinc-fing>gg>er protein family. These family members are transcription factors that are implicated in a variety of cellular processes. This g>gg>ene is located near the centromeric border of chromosome 11p15.5, next to an imprinted domain that is associated with maternal-specific loss of heterozyg>gg>osity in Wilms' tumors. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Feb 2012]

RSBN1L Gene

round spermatid basic protein 1-like

Predicted to enable dioxyg>gg>enase activity and metal ion binding>gg> activity. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

UBXN2B Gene

UBX domain protein 2B

Predicted to enable ubiquitin binding>gg> activity. Involved in establishment of mitotic spindle orientation; neg>gg>ative reg>gg>ulation of protein localization to centrosome; and positive reg>gg>ulation of mitotic centrosome separation. Predicted to be located in g>Gg>olg>gg>i apparatus; endoplasmic reticulum; and spindle pole centrosome. Predicted to be active in cytosol and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

UBXN2A Gene

UBX domain protein 2A

Predicted to enable ubiquitin binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of ERAD pathway and positive reg>gg>ulation of protein catabolic process. Located in cytoplasm and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KIF1BP Gene

KIF1 binding>gg> protein

This g>gg>ene encodes a kinesin family member 1 binding>gg> protein that is characterized by two tetratrico peptide repeats. The encoded protein localizes to the mitochondria and may be involved in reg>gg>ulating>gg> transport of the mitochondria. Mutations in this g>gg>ene are associated with g>Gg>oldberg>gg>-Shprintzen meg>gg>acolon syndrome. [provided by RefSeq, Mar 2010]

ZNF221 Gene

zinc fing>gg>er protein 221

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF222 Gene

zinc fing>gg>er protein 222

Predicted to enable DNA-binding>gg> transcription factor activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF223 Gene

zinc fing>gg>er protein 223

This g>gg>ene encodes a protein containing>gg> a Kruppel-associated box domain and multiple zinc fing>gg>er domains. The function of this protein has yet to be determined. [provided by RefSeq, Mar 2014]

ZNF224 Gene

zinc fing>gg>er protein 224

This g>gg>ene encodes a member of the Krueppel C2H2-type zinc-fing>gg>er family of proteins. The encoded protein represses transcription of the aldolase A g>gg>ene, which encodes a key enzyme in g>gg>lycolysis. The encoded zinc-fing>gg>er protein may also function as a transcriptional co-activator with Wilms' tumor protein 1 to reg>gg>ulate apoptotic g>gg>enes in leukemia. [provided by RefSeq, Jul 2016]

ZNF225 Gene

zinc fing>gg>er protein 225

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF226 Gene

zinc fing>gg>er protein 226

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF227 Gene

zinc fing>gg>er protein 227

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to act upstream of or within neg>gg>ative reg>gg>ulation of DNA-templated transcription. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF229 Gene

zinc fing>gg>er protein 229

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00428 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 428

LOC100129728 Gene

nucleic acid binding>gg> protein 2 pseudog>gg>ene

LINC01354 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1354

LINC01355 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1355

LINC01350 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1350

HINT1P2 Gene

histidine triad nucleotide binding>gg> protein 1 pseudog>gg>ene 2

HINT1P1 Gene

histidine triad nucleotide binding>gg> protein 1 pseudog>gg>ene 1

TSPY5P Gene

testis specific protein, Y-linked 5, pseudog>gg>ene

LOC100421269 Gene

phosphodiesterase 4D interacting>gg> protein pseudog>gg>ene

LOC105378266 Gene

forkhead box protein L2-like

DAZAP2P1 Gene

DAZ associated protein 2 pseudog>gg>ene 1

RAD18 Gene

RAD18 E3 ubiquitin protein lig>gg>ase

The protein encoded by this g>gg>ene is hig>gg>hly similar to S. cerevisiae DNA damag>gg>e repair protein Rad18. Yeast Rad18 functions throug>gg>h its interaction with Rad6, which is an ubiquitin-conjug>gg>ating>gg> enzyme required for post-replication repair of damag>gg>ed DNA. Similar to its yeast counterpart, this protein is able to interact with the human homolog>gg> of yeast Rad6 protein throug>gg>h a conserved ring>gg>-fing>gg>er motif. Mutation of this motif results in defective replication of UV-damag>gg>ed DNA and hypersensitivity to multiple mutag>gg>ens. [provided by RefSeq, Jul 2008]

RSU1 Gene

Ras suppressor protein 1

This g>gg>ene encodes a protein that is involved in the Ras sig>gg>nal transduction pathway, g>gg>rowth inhibition, and nerve-g>gg>rowth factor induced differentiation processes, as determined in mouse and human cell line studies. In mouse, the encoded protein was initially isolated based on its ability to inhibit v-Ras transformation. Multiple alternatively spliced transcript variants for this g>gg>ene have been reported; one of these variants was found only in g>gg>lioma tumors. [provided by RefSeq, Jul 2008]

YBX1P8 Gene

Y box binding>gg> protein 1 pseudog>gg>ene 8

Zg>Gg>16 Gene

zymog>gg>en g>gg>ranule protein 16

Predicted to enable carbohydrate binding>gg> activity and peptidog>gg>lycan binding>gg> activity. Predicted to be involved in protein transport. Predicted to act upstream of or within defense response to g>Gg>ram-positive bacterium and suppression of symbiont entry into host. Located in g>Gg>olg>gg>i lumen and collag>gg>en-containing>gg> extracellular matrix. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPLP2P3 Gene

ribosomal protein, larg>gg>e, P2 pseudog>gg>ene 3

RPLP2P1 Gene

ribosomal protein, larg>gg>e P2, pseudog>gg>ene 1

RPLP2P5 Gene

ribosomal protein, larg>gg>e, P2 pseudog>gg>ene 5

RPLP2P4 Gene

ribosomal protein, larg>gg>e, P2 pseudog>gg>ene 4

LOC105377200 Gene

zinc fing>gg>er protein Rlf-like

YBX1P4 Gene

Y box binding>gg> protein 1 pseudog>gg>ene 4

TPT1 Gene

tumor protein, translationally-controlled 1

This g>gg>ene encodes a protein that is a reg>gg>ulator of cellular g>gg>rowth and proliferation. Its mRNA is hig>gg>hly structured and contains an olig>gg>opyrimidine tract (5'-TOP) in its 5' untranslated reg>gg>ion that functions to repress its translation under quiescent conditions. The encoded protein is involved in a variety of cellular pathways, including>gg> apoptosis, protein synthesis and cell division. It binds to and stabilizes microtubules, and removal of this protein throug>gg>h phosphorylation is required for prog>gg>ression throug>gg>h mitotic and meiotic cell divisions. This g>gg>ene is known to play a role in carcinog>gg>enesis, and is upreg>gg>ulated in some cancer cells. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Aug>gg> 2017]

RPS27P17 Gene

ribosomal protein S27 pseudog>gg>ene 17

ZNF965P Gene

zinc fing>gg>er protein 965, pseudog>gg>ene

RPS27P12 Gene

ribosomal protein S27 pseudog>gg>ene 12

LOC102723891 Gene

ankyrin repeat domain-containing>gg> protein 20B-like

LOC102723897 Gene

WAS protein family homolog>gg> 2-like

LOC729978 Gene

nuclear pore complex interacting>gg> protein pseudog>gg>ene

Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PHF14 Gene

PHD fing>gg>er protein 14

Enables histone binding>gg> activity. Predicted to be involved in several processes, including>gg> g>gg>erminal center B cell differentiation; lung>gg> development; and neg>gg>ative reg>gg>ulation of mesenchymal cell proliferation involved in lung>gg> development. Located in chromatin; cytoplasm; and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PHF10 Gene

PHD fing>gg>er protein 10

This g>gg>ene contains a predicted ORF that encodes a protein with two zinc fing>gg>er domains. The function of the encoded protein is not known. Sequence analysis sug>gg>g>gg>ests that multiple alternatively spliced transcript variants are derived from this g>gg>ene but the full-leng>gg>th nature of only two of them is known. These two splice variants encode different isoforms. A pseudog>gg>ene for this g>gg>ene is located on Xq28. [provided by RefSeq, Jul 2008]

PHF11 Gene

PHD fing>gg>er protein 11

This g>gg>ene encodes a protein containing>gg> a PHD (plant homeodomain) type zinc fing>gg>er. This g>gg>ene has been identified in some studies as a candidate g>gg>ene for asthma. Naturally-occurring>gg> readthroug>gg>h transcription may occur from the upstream SETDB2 (SET domain bifurcated 2) g>gg>ene to this locus. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Mar 2016]

PHF12 Gene

PHD fing>gg>er protein 12

Enables phosphatidylinositol binding>gg> activity and transcription corepressor activity. Involved in neg>gg>ative reg>gg>ulation of DNA-templated transcription. Acts upstream of or within neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II. Located in nucleoplasm. Part of Sin3-type complex and transcription repressor complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PHF13 Gene

PHD fing>gg>er protein 13

Enables chromatin binding>gg> activity; chromatin-protein adaptor activity; and methylated histone binding>gg> activity. Involved in mitotic chromosome condensation and reg>gg>ulation of DNA repair. Located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS12P31 Gene

ribosomal protein S12 pseudog>gg>ene 31

PHF19 Gene

PHD fing>gg>er protein 19

Enables methylated histone binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of g>gg>ene expression, epig>gg>enetic. Located in ESC/E(Z) complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPS12P32 Gene

ribosomal protein S12 pseudog>gg>ene 32

TIA1 Gene

TIA1 cytotoxic g>gg>ranule-associated RNA binding>gg> protein

The product encoded by this g>gg>ene is a member of a RNA-binding>gg> protein family and possesses nucleolytic activity ag>gg>ainst cytotoxic lymphocyte (CTL) targ>gg>et cells. It has been sug>gg>g>gg>ested that this protein may be involved in the induction of apoptosis as it preferentially recog>gg>nizes poly(A) homopolymers and induces DNA frag>gg>mentation in CTL targ>gg>ets. The major g>gg>ranule-associated species is a 15-kDa protein that is thoug>gg>ht to be derived from the carboxyl terminus of the 40-kDa product by proteolytic processing>gg>. Alternative splicing>gg> resulting>gg> in different isoforms has been found for this g>gg>ene. [provided by RefSeq, May 2017]

CTBP2P1 Gene

C-terminal binding>gg> protein 2 pseudog>gg>ene 1

CTBP2P2 Gene

C-terminal binding>gg> protein 2 pseudog>gg>ene 2

CTBP2P3 Gene

C-terminal binding>gg> protein 2 pseudog>gg>ene 3

CTBP2P4 Gene

C-terminal binding>gg> protein 2 pseudog>gg>ene 4

CTBP2P5 Gene

C-terminal binding>gg> protein 2 pseudog>gg>ene 5

CTBP2P6 Gene

C-terminal binding>gg> protein 2 pseudog>gg>ene 6

CTBP2P7 Gene

C-terminal binding>gg> protein 2 pseudog>gg>ene 7

SYNg>Gg>AP1 Gene

synaptic Ras g>Gg>TPase activating>gg> protein 1

This g>gg>ene encodes a Ras g>Gg>TPase activating>gg> protein that is a member of the N-methyl-D-aspartate g>receptorg> complex. The N-terminal domain of the protein contains a Ras-g>Gg>AP domain, a pleckstrin homolog>gg>y domain, and a C2 domain that may be involved in binding>gg> of calcium and phospholipids. The C-terminal domain consists of a ten histidine repeat reg>gg>ion, serine and tyrosine phosphorylation sites, and a T/SXV motif required for postsynaptic scaffold protein interaction. The encoded protein neg>gg>atively reg>gg>ulates Ras, Rap and alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid g>receptorg> trafficking>gg> to the postsynaptic membrane to reg>gg>ulate synaptic plasticity and neuronal homeostasis. Allelic variants of this g>gg>ene are associated with intellectual disability and autism spectrum disorder. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Nov 2016]

LOC105375111 Gene

putative POM121-like protein 1

LOC105375112 Gene

putative protein FAM157B

LOC100420011 Gene

transmembrane protein 38A pseudog>gg>ene

MFAP1P1 Gene

microfibrillar-associated protein 1 pseudog>gg>ene 1

RPL23AP58 Gene

ribosomal protein L23a pseudog>gg>ene 58

LINC01019 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1019

LINC01018 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1018

LINC01013 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1013

LINC01012 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1012

LINC01015 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1015

LINC01014 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1014

LINC01016 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1016

CEP57L1P1 Gene

centrosomal protein 57kDa-like 1 pseudog>gg>ene 1

SIAH1P1 Gene

siah E3 ubiquitin protein lig>gg>ase 1 pseudog>gg>ene 1

APLP2 Gene

amyloid beta (A4) precursor-like protein 2

This g>gg>ene encodes amyloid precursor- like protein 2 (APLP2), which is a member of the APP (amyloid precursor protein) family including>gg> APP, APLP1 and APLP2. This protein is ubiquitously expressed. It contains heparin-, copper- and zinc- binding>gg> domains at the N-terminus, BPTI/Kunitz inhibitor and E2 domains in the middle reg>gg>ion, and transmembrane and intracellular domains at the C-terminus. This protein interacts with major histocompatibility complex (MHC) class I molecules. The synerg>gg>y of this protein and the APP is required to mediate neuromuscular transmission, spatial learning>gg> and synaptic plasticity. This protein has been implicated in the pathog>gg>enesis of Alzheimer's disease. Multiple alternatively spliced transcript variants encoding>gg> different isoforms have been identified. [provided by RefSeq, Aug>gg> 2011]

NKAPP1 Gene

NFKB activating>gg> protein pseudog>gg>ene 1

LOC100131553 Gene

disinteg>gg>rin and metalloproteinase domain-containing>gg> protein 21-like

FABP5P11 Gene

fatty acid binding>gg> protein 5 pseudog>gg>ene 11

LOC100533708 Gene

protein inhibitor of activated STAT, 2 pseudog>gg>ene

RPL23AP59 Gene

ribosomal protein L23a pseudog>gg>ene 59

CCER1 Gene

coiled-coil g>gg>lutamate-rich protein 1

CCER2 Gene

coiled-coil g>gg>lutamate-rich protein 2

Predicted to be located in extracellular reg>gg>ion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PTPDC1 Gene

protein tyrosine phosphatase domain containing>gg> 1

The protein encoded by this g>gg>ene contains a characteristic motif of protein tyrosine phosphatases (PTPs). PTPs reg>gg>ulate activities of phosphoproteins throug>gg>h dephosphorylation. They are sig>gg>naling>gg> molecules involved in the reg>gg>ulation of a wide variety of biolog>gg>ical processes. The specific function of this protein has not yet been determined. Alternatively spliced transcript variants encoding>gg> distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

BCCIP Gene

BRCA2 and CDKN1A interacting>gg> protein

This g>gg>ene product was isolated on the basis of its interaction with BRCA2 and p21 proteins. It is an evolutionarily conserved nuclear protein with multiple interacting>gg> domains. The N-terminal half shares moderate homolog>gg>y with reg>gg>ions of calmodulin and M-calpain, sug>gg>g>gg>esting>gg> that it may also bind calcium. Functional studies indicate that this protein may be an important cofactor for BRCA2 in tumor suppression, and a modulator of CDK2 kinase activity via p21. This protein has also been implicated in the reg>gg>ulation of BRCA2 and RAD51 nuclear focus formation, double-strand break-induced homolog>gg>ous recombination, and cell cycle prog>gg>ression. Multiple transcript variants encoding>gg> different isoforms have been described for this g>gg>ene. [provided by RefSeq, Jul 2008]

RHPN2P1 Gene

rhophilin, Rho g>Gg>TPase binding>gg> protein 2 pseudog>gg>ene 1

Predicted to be involved in neg>gg>ative reg>gg>ulation of stress fiber assembly. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RSU1P3 Gene

Ras suppressor protein 1 pseudog>gg>ene 3

LOC100419792 Gene

zinc fing>gg>er protein 622 pseudog>gg>ene

LOC101929469 Gene

uncharacterized protein ENSP00000372125

LOC105369972 Gene

endog>gg>enous retrovirus g>gg>roup K member 8 Pol protein-like

LOC105369971 Gene

veg>gg>etative cell wall protein g>gg>p1-like

CEP170B Gene

centrosomal protein 170B

Predicted to be located in cytoplasm and microtubule. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC105376848 Gene

putative uncharacterized protein encoded by LINC00269

PSBP1 Gene

prostatic steroid binding>gg> protein 1

DIP2A Gene

DIP2 disco-interacting>gg> protein 2 homolog>gg> A (Drosophila)

The protein encoded by this g>gg>ene may be involved in axon patterning>gg> in the central nervous system. This g>gg>ene is not hig>gg>hly expressed. Several transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Mar 2009]

DIP2B Gene

DIP2 disco-interacting>gg> protein 2 homolog>gg> B (Drosophila)

This g>gg>ene encodes a member of the disco-interacting>gg> protein homolog>gg> 2 protein family. The encoded protein contains a binding>gg> site for the transcriptional reg>gg>ulator DNA methyltransferase 1 associated protein 1 as well as AMP-binding>gg> sites. The presence of these sites sug>gg>g>gg>ests that the encoded protein may participate in DNA methylation. This g>gg>ene is located near a folate-sensitive frag>gg>ile site, and Cg>Gg>g>Gg>-repeat expansion in the promoter of this g>gg>ene which affects transcription has been detected in individuals containing>gg> this frag>gg>ile site on chromosome 12. [provided by RefSeq, Aug>gg> 2011]

DIP2C Gene

DIP2 disco-interacting>gg> protein 2 homolog>gg> C (Drosophila)

This g>gg>ene encodes a member of the disco-interacting>gg> protein homolog>gg> 2 family. The protein shares strong>gg> similarity with a Drosophila protein which interacts with the transcription factor disco and is expressed in the nervous system. [provided by RefSeq, Oct 2008]

RPS24P9 Gene

ribosomal protein S24 pseudog>gg>ene 9

LINC00888 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 888

LOC100288712 Gene

S100 calcium binding>gg> protein A11 pseudog>gg>ene

LOC105378158 Gene

basic proline-rich protein-like

LOC646517 Gene

Wilms tumor 1 associated protein pseudog>gg>ene

CEP85L Gene

centrosomal protein 85kDa-like

The protein encoded by this g>gg>ene was identified as a breast cancer antig>gg>en. Nothing>gg> more is known of its function at this time. Three transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, May 2010]

LINC01162 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1162

DLEU2 Gene

deleted in lymphocytic leukemia 2 (non-protein coding>gg>)

This locus represents a microRNA host g>gg>ene and also produces long>gg> alternatively spliced non-coding>gg> RNAs. This g>gg>enome reg>gg>ion was observed to be deleted or epig>gg>enetically suppressed in leukemia, and was implicated as a neg>gg>ative reg>gg>ulator of cell proliferation. However, an alternative transcript produced at this locus was also found to promote prog>gg>ression throug>gg>h the cell cycle via ang>gg>iotensin I converting>gg> enzyme 2 and cyclin D1. [provided by RefSeq, Dec 2017]

DLEU1 Gene

deleted in lymphocytic leukemia 1 (non-protein coding>gg>)

MRPS36P5 Gene

mitochondrial ribosomal protein S36 pseudog>gg>ene 5

HCg>Gg>4B Gene

HLA complex g>gg>roup 4B (non-protein coding>gg>)

MRPS36P1 Gene

mitochondrial ribosomal protein S36 pseudog>gg>ene 1

LINC00919 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 919

RPL9P19 Gene

ribosomal protein L9 pseudog>gg>ene 19

RPL9P18 Gene

ribosomal protein L9 pseudog>gg>ene 18

RPL9P11 Gene

ribosomal protein L9 pseudog>gg>ene 11

RPL9P10 Gene

ribosomal protein L9 pseudog>gg>ene 10

RPL9P12 Gene

ribosomal protein L9 pseudog>gg>ene 12

RPL9P15 Gene

ribosomal protein L9 pseudog>gg>ene 15

RPL9P14 Gene

ribosomal protein L9 pseudog>gg>ene 14

RPL9P17 Gene

ribosomal protein L9 pseudog>gg>ene 17

RPL9P16 Gene

ribosomal protein L9 pseudog>gg>ene 16

LOC730102 Gene

quinone oxidoreductase-like protein 2 pseudog>gg>ene

LINC00914 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 914

RPL23AP79 Gene

ribosomal protein L23a pseudog>gg>ene 79

RPL23AP74 Gene

ribosomal protein L23a pseudog>gg>ene 74

RPL23AP75 Gene

ribosomal protein L23a pseudog>gg>ene 75

RPL23AP76 Gene

ribosomal protein L23a pseudog>gg>ene 76

RPL23AP77 Gene

ribosomal protein L23a pseudog>gg>ene 77

RPL23AP70 Gene

ribosomal protein L23a pseudog>gg>ene 70

LOC100294336 Gene

dead end protein homolog>gg> 1 pseudog>gg>ene

TRAPPC3L Gene

trafficking>gg> protein particle complex 3-like

Predicted to be involved in endoplasmic reticulum to g>Gg>olg>gg>i vesicle-mediated transport and intra-g>Gg>olg>gg>i vesicle-mediated transport. Part of TRAPP complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100130326 Gene

transmembrane protein 183A pseudog>gg>ene

POMg>Gg>NT1 Gene

protein O-linked mannose N-acetylg>gg>lucosaminyltransferase 1 (beta 1,2-)

This g>gg>ene encodes a type II transmembrane protein that resides in the g>Gg>olg>gg>i apparatus. It participates in O-mannosyl g>gg>lycosylation and is specific for alpha linked terminal mannose. Mutations in this g>gg>ene may be associated with muscle-eye-brain disease and several cong>gg>enital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]

POMg>Gg>NT2 Gene

protein O-linked mannose N-acetylg>gg>lucosaminyltransferase 2 (beta 1,4-)

This g>gg>ene encodes a protein with g>gg>lycosyltransferase activity althoug>gg>h its function is not currently known. [provided by RefSeq, Sep 2012]

PHIP Gene

pleckstrin homolog>gg>y domain interacting>gg> protein

This g>gg>ene encodes a protein that binds to the insulin g>receptorg> substrate 1 protein and reg>gg>ulates g>gg>lucose transporter translocation in skeletal muscle cells. The encoded protein may also reg>gg>ulate g>gg>rowth and survival of pancreatic beta cells. Elevated copy number of this g>gg>ene may be associated with melanoma severity and the encoded protein may promote melanoma metastasis in human patients. [provided by RefSeq, Oct 2016]

LOC101929928 Gene

protein SPHAR-like

ZNF521 Gene

zinc fing>gg>er protein 521

Enables protein domain specific binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to act upstream of or within neuron fate commitment. Located in nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF527 Gene

zinc fing>gg>er protein 527

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF526 Gene

zinc fing>gg>er protein 526

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF525 Gene

zinc fing>gg>er protein 525

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF524 Gene

zinc fing>gg>er protein 524

Enables sequence-specific double-stranded DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF529 Gene

zinc fing>gg>er protein 529

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF528 Gene

zinc fing>gg>er protein 528

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RNF144B Gene

ring>gg> fing>gg>er protein 144B

Enables ubiquitin-protein transferase activity. Involved in neg>gg>ative reg>gg>ulation of apoptotic process and ubiquitin-dependent protein catabolic process. Located in mitochondrial membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

VPS16 Gene

vacuolar protein sorting>gg> 16 homolog>gg> (S. cerevisiae)

Vesicle mediated protein sorting>gg> plays an important role in seg>gg>reg>gg>ation of intracellular molecules into distinct org>gg>anelles. g>Gg>enetic studies in yeast have identified more than 40 vacuolar protein sorting>gg> (VPS) g>gg>enes involved in vesicle transport to vacuoles. This g>gg>ene encodes the human homolog>gg> of yeast class C Vps16 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking>gg> steps in the endosome/lysosome pathway. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2009]

BCL11A Gene

B-cell CLL/lymphoma 11A (zinc fing>gg>er protein)

This g>gg>ene encodes a C2H2 type zinc-fing>gg>er protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding>gg> mouse g>gg>ene is a common site of retroviral integ>gg>ration in myeloid leukemia, and may function as a leukemia disease g>gg>ene, in part, throug>gg>h its interaction with BCL6. During>gg> hematopoietic cell differentiation, this g>gg>ene is down-reg>gg>ulated. It is possibly involved in lymphoma pathog>gg>enesis since translocations associated with B-cell malig>gg>nancies also dereg>gg>ulates its expression. Multiple transcript variants encoding>gg> several different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

RPLP1P2 Gene

ribosomal protein, larg>gg>e, P1 pseudog>gg>ene 2

BCL11B Gene

B-cell CLL/lymphoma 11B (zinc fing>gg>er protein)

This g>gg>ene encodes a C2H2-type zinc fing>gg>er protein and is closely related to BCL11A, a g>gg>ene whose translocation may be associated with B-cell malig>gg>nancies. Althoug>gg>h the specific function of this g>gg>ene has not been determined, the encoded protein is known to be a transcriptional repressor, and is reg>gg>ulated by the NURD nucleosome remodeling>gg> and histone deacetylase complex. Four alternatively spliced transcript variants encoding>gg> distinct isoforms have been found for this g>gg>ene. [provided by RefSeq, Aug>gg> 2013]

RPLP1P6 Gene

ribosomal protein, larg>gg>e, P1 pseudog>gg>ene 6

FKBP4 Gene

FK506 binding>gg> protein 4, 59kDa

The protein encoded by this g>gg>ene is a member of the immunophilin protein family, which play a role in immunoreg>gg>ulation and basic cellular processes involving>gg> protein folding>gg> and trafficking>gg>. This encoded protein is a cis-trans prolyl isomerase that binds to the immunosuppressants FK506 and rapamycin. It has hig>gg>h structural and functional similarity to FK506-binding>gg> protein 1A (FKBP1A), but unlike FKBP1A, this protein does not have immunosuppressant activity when complexed with FK506. It interacts with interferon reg>gg>ulatory factor-4 and plays an important role in immunoreg>gg>ulatory g>gg>ene expression in B and T lymphocytes. This encoded protein is known to associate with phytanoyl-CoA alpha-hydroxylase. It can also associate with two heat shock proteins (hsp90 and hsp70) and thus may play a role in the intracellular trafficking>gg> of hetero-olig>gg>omeric forms of the steroid hormone g>receptorg>s. This protein correlates strong>gg>ly with adeno-associated virus type 2 vectors (AAV) resulting>gg> in a sig>gg>nificant increase in AAV-mediated transg>gg>ene expression in human cell lines. Thus this encoded protein is thoug>gg>ht to have important implications for the optimal use of AAV vectors in human g>gg>ene therapy. The human g>gg>enome contains several non-transcribed pseudog>gg>enes similar to this g>gg>ene. [provided by RefSeq, Sep 2008]

FKBP5 Gene

FK506 binding>gg> protein 5

The protein encoded by this g>gg>ene is a member of the immunophilin protein family, which play a role in immunoreg>gg>ulation and basic cellular processes involving>gg> protein folding>gg> and trafficking>gg>. This encoded protein is a cis-trans prolyl isomerase that binds to the immunosuppressants FK506 and rapamycin. It is thoug>gg>ht to mediate calcineurin inhibition. It also interacts functionally with mature hetero-olig>gg>omeric prog>gg>esterone g>receptorg> complexes along>gg> with the 90 kDa heat shock protein and P23 protein. This g>gg>ene has been found to have multiple polyadenylation sites. Alternative splicing>gg> results in multiple transcript variants.[provided by RefSeq, Mar 2009]

FKBP6 Gene

FK506 binding>gg> protein 6, 36kDa

The protein encoded by this g>gg>ene is a cis-trans peptidyl-prolyl isomerase that may function in immunoreg>gg>ulation and basic cellular processes involving>gg> protein folding>gg> and trafficking>gg>. This g>gg>ene is located in a chromosomal reg>gg>ion that is deleted in Williams-Beuren syndrome. Defects in this g>gg>ene may cause male infertility. There are multiple pseudog>gg>enes for this g>gg>ene located nearby on chromosome 7. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jul 2013]

FKBP7 Gene

FK506 binding>gg> protein 7

The protein encoded by this g>gg>ene belong>gg>s to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. Members of this family exhibit PPIase activity and function as molecular chaperones. A similar protein in mouse is located in the endoplasmic reticulum and binds calcium. [provided by RefSeq, Jul 2008]

FKBP2 Gene

FK506 binding>gg> protein 2, 13kDa

The protein encoded by this g>gg>ene is a member of the immunophilin protein family, which play a role in immunoreg>gg>ulation and basic cellular processes involving>gg> protein folding>gg> and trafficking>gg>. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It is thoug>gg>ht to function as an ER chaperone and may also act as a component of membrane cytoskeletal scaffolds. Multiple alternatively spliced variants, encoding>gg> the same protein, have been identified. [provided by RefSeq, Sep 2008]

FKBP3 Gene

FK506 binding>gg> protein 3, 25kDa

The protein encoded by this g>gg>ene is a member of the immunophilin protein family, which play a role in immunoreg>gg>ulation and basic cellular processes involving>gg> protein folding>gg> and trafficking>gg>. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin, as well as histone deacetylases, the transcription factor YY1, casein kinase II, and nucleolin. It has a hig>gg>her affinity for rapamycin than for FK506 and thus may be an important targ>gg>et molecule for immunosuppression by rapamycin. [provided by RefSeq, Sep 2008]

LINC00705 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 705

FKBP8 Gene

FK506 binding>gg> protein 8, 38kDa

The protein encoded by this g>gg>ene is a member of the immunophilin protein family, which play a role in immunoreg>gg>ulation and basic cellular processes involving>gg> protein folding>gg> and trafficking>gg>. Unlike the other members of the family, this encoded protein does not seem to have PPIase/rotamase activity. It may have a role in neurons associated with memory function. [provided by RefSeq, Jul 2008]

FKBP9 Gene

FK506 binding>gg> protein 9, 63 kDa

Predicted to enable calcium ion binding>gg> activity and peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in protein folding>gg>. Predicted to be active in endoplasmic reticulum. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC00700 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 700

LINC00701 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 701

RPS2P53 Gene

ribosomal protein S2 pseudog>gg>ene 53

RPS2P52 Gene

ribosomal protein S2 pseudog>gg>ene 52

RPS2P51 Gene

ribosomal protein S2 pseudog>gg>ene 51

RPS2P50 Gene

ribosomal protein S2 pseudog>gg>ene 50

FKBPL Gene

FK506 binding>gg> protein like

The protein encoded by this g>gg>ene has similarity to the immunophilin protein family, which play a role in immunoreg>gg>ulation and basic cellular processes involving>gg> protein folding>gg> and trafficking>gg>. The encoded protein is thoug>gg>ht to have a potential role in the induced radioresistance. Also it appears to have some involvement in the control of the cell cycle. [provided by RefSeq, Jul 2008]

RPL21P122 Gene

ribosomal protein L21 pseudog>gg>ene 122

NHP2L1 Gene

NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)

Orig>gg>inally named because of its sequence similarity to the Saccharomyces cerevisiae NHP2 (non-histone protein 2), this protein appears to be a hig>gg>hly conserved nuclear protein that is a component of the [U4/U6.U5] tri-snRNP. It binds to the 5' stem-loop of U4 snRNA. Two transcript variants encoding>gg> the same protein have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

LOC100125393 Gene

TIMELESS interacting>gg> protein pseudog>gg>ene

LOC100125392 Gene

TIMELESS interacting>gg> protein pseudog>gg>ene

LOC102724436 Gene

putative zinc fing>gg>er protein 66

DISC1FP1 Gene

DISC1 fusion partner 1 (non-protein coding>gg>)

ORF1 Gene

uncharacterized protein, clone pT-Adv JuaX22

TPRA1 Gene

transmembrane protein, adipocyte asscociated 1

Predicted to enable g>Gg> g>protein-coupledg> g>receptorg> activity. Predicted to be involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway. Predicted to act upstream of or within embryonic cleavag>gg>e and neg>gg>ative reg>gg>ulation of mitotic cell cycle phase transition. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

YAP1 Gene

Yes-associated protein 1

This g>gg>ene encodes a downstream nuclear effector of the Hippo sig>gg>naling>gg> pathway which is involved in development, g>gg>rowth, repair, and homeostasis. This g>gg>ene is known to play a role in the development and prog>gg>ression of multiple cancers as a transcriptional reg>gg>ulator of this sig>gg>naling>gg> pathway and may function as a potential targ>gg>et for cancer treatment. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Aug>gg> 2013]

TUBg>Gg>CP2 Gene

tubulin, g>gg>amma complex associated protein 2

Predicted to enable g>gg>amma-tubulin binding>gg> activity. Predicted to contribute to microtubule minus-end binding>gg> activity. Involved in brain development and neuron mig>gg>ration. Located in centrosome and nucleoplasm. Implicated in pachyg>gg>yria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TUBg>Gg>CP3 Gene

tubulin, g>gg>amma complex associated protein 3

Enables g>gg>amma-tubulin binding>gg> activity. Predicted to be involved in meiotic cell cycle; microtubule cytoskeleton org>gg>anization; and mitotic cell cycle. Located in cytoplasm and microtubule cytoskeleton. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TUBg>Gg>CP4 Gene

tubulin, g>gg>amma complex associated protein 4

This g>gg>ene encodes a component of the g>gg>amma-tubulin ring>gg> complex, which is required for microtubule nucleation. In mammalian cells, the protein localizes to centrosomes in association with g>gg>amma-tubulin. Crystal structure analysis revealed a structure composed of five helical bundles arrang>gg>ed around conserved hydrophobic cores. An exposed surface area located in the C-terminal domain is essential and sufficient for direct binding>gg> to g>gg>amma-tubulin. Mutations in this g>gg>ene that alter microtubule org>gg>anization are associated with microcephaly and chorioretinopathy. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, May 2015]

TUBg>Gg>CP5 Gene

tubulin, g>gg>amma complex associated protein 5

Enables microtubule binding>gg> activity. Involved in microtubule nucleation. Located in centrosome and cytosol. Part of g>gg>amma-tubulin ring>gg> complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TUBg>Gg>CP6 Gene

tubulin, g>gg>amma complex associated protein 6

The protein encoded by this g>gg>ene is part of a larg>gg>e multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq, Jul 2008]

RPL21P95 Gene

ribosomal protein L21 pseudog>gg>ene 95

RBMS2P1 Gene

RNA binding>gg> motif, sing>gg>le stranded interacting>gg> protein 2 pseudog>gg>ene 1

LINC01359 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1359

BANP Gene

BTg>Gg>3 associated nuclear protein

This g>gg>ene encodes a protein that binds to matrix attachment reg>gg>ions. The protein forms a complex with p53 and neg>gg>atively reg>gg>ulates p53 transcription, and functions as a tumor suppressor and cell cycle reg>gg>ulator. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Mar 2010]

LOC100128467 Gene

nuclear distribution protein nudE-like 1-like

LOC101929211 Gene

proline-rich protein 2-like

HSP90AB5P Gene

heat shock protein 90kDa alpha (cytosolic), class B member 5, pseudog>gg>ene

TMEM185AP1 Gene

transmembrane protein 185A pseudog>gg>ene 1

TMED11P Gene

transmembrane emp24 protein transport domain containing>gg> 11, pseudog>gg>ene

ROPN1B Gene

rhophilin associated tail protein 1B

Enables protein heterodimerization activity. Predicted to be involved in several processes, including>gg> flag>gg>ellated sperm motility; protein localization to cilium; and sperm capacitation. Located in cytoplasm and motile cilium. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ROPN1L Gene

rhophilin associated tail protein 1-like

This g>gg>ene encodes a member of the ropporin family. The encoded protein is present in sperm and interacts with A-kinase anchoring>gg> protein, AKAP3, throug>gg>h the amphipathic helix reg>gg>ion of AKAP3. Alternatively spliced transcript variants have been found for this g>gg>ene. [provided by RefSeq, Oct 2014]

LINC01352 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1352

NCKIPSD Gene

NCK interacting>gg> protein with SH3 domain

The protein encoded by this g>gg>ene contains a nuclear localization sig>gg>nal. It plays a role in sig>gg>nal transduction, and may function in the maintenance of sarcomeres and in the assembly of myofibrils into sarcomeres. It also plays an important role in stress fiber formation This protein is involved in the formation and maintenance of dendritic spines, and modulates synaptic activity in neurons. The g>gg>ene is involved in therapy-related leukemia by a chromosomal translocation t(3;11)(p21;q23) that involves this g>gg>ene and the myeloid/lymphoid leukemia g>gg>ene. Alternative splicing>gg> results in multiple transcript variants of this g>gg>ene. [provided by RefSeq, Aug>gg> 2019]

HSPB1P1 Gene

heat shock 27kDa protein 1 pseudog>gg>ene 1

HSPB1P2 Gene

heat shock 27kDa protein 1 pseudog>gg>ene 2

TPT1P8 Gene

tumor protein, translationally-controlled 1 pseudog>gg>ene 8

Predicted to enable calcium ion binding>gg> activity. Predicted to be involved in apoptotic process. Predicted to be active in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TPT1P5 Gene

tumor protein, translationally-controlled 1 pseudog>gg>ene 5

TPT1P4 Gene

tumor protein, translationally-controlled 1 pseudog>gg>ene 4

TPT1P3 Gene

tumor protein, translationally-controlled 1 pseudog>gg>ene 3

TPT1P2 Gene

tumor protein, translationally-controlled 1 pseudog>gg>ene 2

TPT1P1 Gene

tumor protein, translationally-controlled 1 pseudog>gg>ene 1

PRKRIRP10 Gene

protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudog>gg>ene 10

RPL10A Gene

ribosomal protein L10a

Ribosomes, the org>gg>anelles that catalyze protein synthesis, consist of a small 40S subunit and a larg>gg>e 60S subunit. Tog>gg>ether these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This g>gg>ene encodes a ribosomal protein that is a component of the 60S subunit. The protein belong>gg>s to the L1P family of ribosomal proteins. It is located in the cytoplasm. The expression of this g>gg>ene is downreg>gg>ulated in the thymus by cyclosporin-A (CsA), an immunosuppressive drug>gg>. Studies in mice have shown that the expression of the ribosomal protein L10a g>gg>ene is downreg>gg>ulated in neural precursor cells during>gg> development. This g>gg>ene previously was referred to as NEDD6 (neural precursor cell expressed, developmentally downreg>gg>ulated 6), but it has been renamed RPL10A (ribosomal protein 10a). As is typical for g>gg>enes encoding>gg> ribosomal proteins, there are multiple processed pseudog>gg>enes of this g>gg>ene dispersed throug>gg>h the g>gg>enome. [provided by RefSeq, Jul 2008]

RPL10L Gene

ribosomal protein L10-like

This g>gg>ene encodes a protein sharing>gg> sequence similarity with ribosomal protein L10. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. This g>gg>ene is intronless. [provided by RefSeq, Jul 2008]

LOC100422402 Gene

RAS g>gg>uanyl releasing>gg> protein 2 (calcium and DAg>Gg>-reg>gg>ulated) pseudog>gg>ene

ZNF721 Gene

zinc fing>gg>er protein 721

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF720 Gene

zinc fing>gg>er protein 720

Predicted to enable metal ion binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF727 Gene

zinc fing>gg>er protein 727

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF726 Gene

zinc fing>gg>er protein 726

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RALg>Gg>APB Gene

Ral g>Gg>TPase activating>gg> protein, beta subunit (non-catalytic)

Enables protein heterodimerization activity. Predicted to be involved in Ral protein sig>gg>nal transduction and activation of g>Gg>TPase activity. Predicted to act upstream of or within reg>gg>ulation of exocyst localization and reg>gg>ulation of protein localization. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF728 Gene

zinc fing>gg>er protein 728

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF72P Gene

zinc fing>gg>er protein 72, pseudog>gg>ene

LOC100996745 Gene

dead end protein homolog>gg> 1 pseudog>gg>ene

LOC100996747 Gene

40S ribosomal protein S26

RBMY2BP Gene

RNA binding>gg> motif protein, Y-linked, family 2, member B pseudog>gg>ene

LOC100419668 Gene

protein kinase C, eta pseudog>gg>ene

LOC100129957 Gene

PC4 and SFRS1 interacting>gg> protein 1 pseudog>gg>ene

BLCAP Gene

bladder cancer associated protein

This g>gg>ene encodes a protein that reduces cell g>gg>rowth by stimulating>gg> apoptosis. Alternative splicing>gg> and the use of alternative promoters result in multiple transcript variants encoding>gg> the same protein. This g>gg>ene is imprinted in brain where different transcript variants are expressed from each parental allele. Transcript variants initiating>gg> from the upstream promoter are expressed preferentially from the maternal allele, while transcript variants initiating>gg> downstream of the interspersed NNAT g>gg>ene (g>Gg>eneID:4826) are expressed from the paternal allele. Transcripts at this locus may also underg>gg>o A to I editing>gg>, resulting>gg> in amino acid chang>gg>es at three positions in the N-terminus of the protein. [provided by RefSeq, Nov 2015]

RPS5P4 Gene

ribosomal protein S5 pseudog>gg>ene 4

RPS5P7 Gene

ribosomal protein S5 pseudog>gg>ene 7

PRPSAP1 Gene

phosphoribosyl pyrophosphate synthetase-associated protein 1

Enables identical protein binding>gg> activity. Predicted to be involved in 5-phosphoribose 1-diphosphate biosynthetic process and purine nucleotide biosynthetic process. Predicted to be active in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PRPSAP2 Gene

phosphoribosyl pyrophosphate synthetase-associated protein 2

This g>gg>ene encodes a protein that associates with the enzyme phosphoribosylpyrophosphate synthetase (PRS). PRS catalyzes the formation of phosphoribosylpyrophosphate which is a substrate for synthesis of purine and pyrimidine nucleotides, histidine, tryptophan and NAD. PRS exists as a complex with two catalytic subunits and two associated subunits. This g>gg>ene encodes a non-catalytic associated subunit of PRS. Alternate splicing>gg> results in multiple transcript variants. [provided by RefSeq, Sep 2011]

NAPg>Gg>P2 Gene

N-ethylmaleimide-sensitive factor attachment protein, g>gg>amma pseudog>gg>ene 2

NAPg>Gg>P1 Gene

N-ethylmaleimide-sensitive factor attachment protein, g>gg>amma pseudog>gg>ene 1

NIN Gene

ninein (g>Gg>SK3B interacting>gg> protein)

This g>gg>ene encodes one of the proteins important for centrosomal function. This protein is important for positioning>gg> and anchoring>gg> the microtubules minus-ends in epithelial cells. Localization of this protein to the centrosome requires three leucine zippers in the central coiled-coil domain. Multiple alternatively spliced transcript variants that encode different isoforms have been reported. [provided by RefSeq, Jul 2008]

RPS26P2 Gene

ribosomal protein S26 pseudog>gg>ene 2

MKRN9P Gene

makorin ring>gg> fing>gg>er protein 9, pseudog>gg>ene

g>Gg>BP3 Gene

g>gg>uanylate binding>gg> protein 3

This g>gg>ene encodes a member of the g>gg>uanylate-binding>gg> protein (g>Gg>BP) family. g>Gg>BPs specifically bind g>gg>uanine nucleotides (g>Gg>MP, g>Gg>DP, and g>Gg>TP) and contain two of the three consensus motifs found in typical g>Gg>TP-binding>gg> proteins. The encoded protein interacts with a member of the g>gg>erminal center kinase family. Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jan 2017]

g>Gg>BP2 Gene

g>gg>uanylate binding>gg> protein 2, interferon-inducible

This g>gg>ene belong>gg>s to the g>gg>uanine-binding>gg> protein (g>Gg>BP) family, which includes interferon-induced proteins that can bind to g>gg>uanine nucleotides (g>Gg>MP, g>Gg>DP and g>Gg>TP). The encoded protein is a g>Gg>TPase which hydrolyzes g>Gg>TP, predominantly to g>Gg>DP. The protein may play a role as a marker of squamous cell carcinomas. [provided by RefSeq, Jul 2013]

g>Gg>BP1 Gene

g>gg>uanylate binding>gg> protein 1, interferon-inducible

g>Gg>uanylate binding>gg> protein expression is induced by interferon. g>Gg>uanylate binding>gg> proteins are characterized by their ability to specifically bind g>gg>uanine nucleotides (g>Gg>MP, g>Gg>DP, and g>Gg>TP) and are disting>gg>uished from the g>Gg>TP-binding>gg> proteins by the presence of 2 binding>gg> motifs rather than 3. [provided by RefSeq, Jul 2008]

g>Gg>BP7 Gene

g>gg>uanylate binding>gg> protein 7

g>Gg>uanylate-binding>gg> proteins, such as g>Gg>BP7, are induced by interferon and hydrolyze g>Gg>TP to both g>Gg>DP and g>Gg>MP (Olszewski et al., 2006 [PubMed 16689661]).[supplied by OMIM, Dec 2008]

g>Gg>BP6 Gene

g>gg>uanylate binding>gg> protein family, member 6

g>Gg>uanylate-binding>gg> proteins, such as g>Gg>BP6, are induced by interferon and hydrolyze g>Gg>TP to both g>Gg>DP and g>Gg>MP (Olszewski et al., 2006 [PubMed 16689661]).[supplied by OMIM, Dec 2008]

g>Gg>BP5 Gene

g>gg>uanylate binding>gg> protein 5

This g>gg>ene belong>gg>s to the TRAFAC class dynamin-like g>Gg>TPase superfamily. The encoded protein acts as an activator of NLRP3 inflammasome assembly and has a role in innate immunity and inflammation. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Jan 2017]

g>Gg>BP4 Gene

g>gg>uanylate binding>gg> protein 4

g>Gg>uanylate-binding>gg> proteins, such as g>Gg>BP4, are induced by interferon and hydrolyze g>Gg>TP to both g>Gg>DP and g>Gg>MP (Vestal, 2005 [PubMed 16108726]).[supplied by OMIM, Dec 2008]

MRPL35P4 Gene

mitochondrial ribosomal protein L35 pseudog>gg>ene 4

PPBPP2 Gene

pro-platelet basic protein pseudog>gg>ene 2

MRPL35P1 Gene

mitochondrial ribosomal protein L35 pseudog>gg>ene 1

MRPL35P3 Gene

mitochondrial ribosomal protein L35 pseudog>gg>ene 3

MRPL35P2 Gene

mitochondrial ribosomal protein L35 pseudog>gg>ene 2

KNOP1 Gene

lysine-rich nucleolar protein 1

The protein encoded by this g>gg>ene is a nucleolar protein that interacts with zinc fing>gg>er 106 protein. The encoded protein has several of the same characteristics as nucleostemin and may be involved in testis development. [provided by RefSeq, Feb 2017]

THEg>Gg> Gene

theg>gg> spermatid protein

This g>gg>ene is specifically expressed in the nucleus of haploid male g>gg>erm cells. The ortholog>gg>ous g>gg>ene in mice encodes a protein that may play a role in protein assembly throug>gg>h interactions with T-complex protein 1 subunit epsilon. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Nov 2011]

LINC01586 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1586

CEP162 Gene

centrosomal protein 162kDa

Involved in cilium assembly. Located in cytosol; microtubule cytoskeleton; and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

DKFZP564C152 Gene

DKFZP564C152 protein

LOC647264 Gene

keratin-associated protein 6-2

LINC00989 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 989

LOC101930115 Gene

von Willebrand factor A domain-containing>gg> protein 3A

LINC00982 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 982

EIF4EBP1P2 Gene

eukaryotic translation initiation factor 4E binding>gg> protein 1 pseudog>gg>ene 2

LINC00987 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 987

g>Gg>S1-279B7.1 Gene

microtubule-associated protein 1 lig>gg>ht chain 3 beta pseudog>gg>ene

RPL7AP48 Gene

ribosomal protein L7a pseudog>gg>ene 48

RPL7AP49 Gene

ribosomal protein L7a pseudog>gg>ene 49

RPL7AP47 Gene

ribosomal protein L7a pseudog>gg>ene 47

RPL7AP44 Gene

ribosomal protein L7a pseudog>gg>ene 44

RPL7AP45 Gene

ribosomal protein L7a pseudog>gg>ene 45

RPL7AP42 Gene

ribosomal protein L7a pseudog>gg>ene 42

RPL7AP43 Gene

ribosomal protein L7a pseudog>gg>ene 43

RPL7AP40 Gene

ribosomal protein L7a pseudog>gg>ene 40

RPL7AP41 Gene

ribosomal protein L7a pseudog>gg>ene 41

RPS27P16 Gene

ribosomal protein S27 pseudog>gg>ene 16

RPS27P15 Gene

ribosomal protein S27 pseudog>gg>ene 15

RPS27P13 Gene

ribosomal protein S27 pseudog>gg>ene 13

RPS27P11 Gene

ribosomal protein S27 pseudog>gg>ene 11

RPS27P10 Gene

ribosomal protein S27 pseudog>gg>ene 10

RPS27P19 Gene

ribosomal protein S27 pseudog>gg>ene 19

LOC728519 Gene

NLR family, apoptosis inhibitory protein pseudog>gg>ene

MAP3K14 Gene

mitog>gg>en-activated protein kinase kinase kinase 14

This g>gg>ene encodes mitog>gg>en-activated protein kinase kinase kinase 14, which is a serine/threonine protein-kinase. This kinase binds to TRAF2 and stimulates NF-kappaB activity. It shares sequence similarity with several other MAPKK kinases. It participates in an NF-kappaB-inducing>gg> sig>gg>nalling>gg> cascade common to g>receptorg>s of the tumour-necrosis/nerve-g>gg>rowth factor (TNF/Ng>Gg>F) family and to the interleukin-1 type-I g>receptorg>. [provided by RefSeq, Jul 2008]

ARC Gene

activity-reg>gg>ulated cytoskeleton-associated protein

Enables mRNA binding>gg> activity and structural molecule activity. Involved in cell mig>gg>ration; cytoskeleton org>gg>anization; and reg>gg>ulation of cell morphog>gg>enesis. Located in cytoplasm and plasma membrane. Part of virus-like capsid. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC100533707 Gene

ZFP37 zinc fing>gg>er protein pseudog>gg>ene

ZNF79 Gene

zinc fing>gg>er protein 79

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF73 Gene

zinc fing>gg>er protein 73

ZNF70 Gene

zinc fing>gg>er protein 70

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Located in cytoplasm and meg>gg>asporocyte nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF71 Gene

zinc fing>gg>er protein 71

Predicted to enable DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF76 Gene

zinc fing>gg>er protein 76

Enables DNA-binding>gg> transcription activator activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding>gg> activity. Involved in positive reg>gg>ulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF77 Gene

zinc fing>gg>er protein 77

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF74 Gene

zinc fing>gg>er protein 74

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Located in actin cytoskeleton and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SFTPA2 Gene

surfactant protein A2

This g>gg>ene is one of several g>gg>enes encoding>gg> pulmonary-surfactant associated proteins (SFTPA) located on chromosome 10. Mutations in this g>gg>ene and a hig>gg>hly similar g>gg>ene located nearby, which affect the hig>gg>hly conserved carbohydrate recog>gg>nition domain, are associated with idiopathic pulmonary fibrosis. The current version of the assembly displays only a sing>gg>le centromeric SFTPA g>gg>ene pair rather than the two g>gg>ene pairs shown in the previous assembly which were thoug>gg>ht to have resulted from a duplication. [provided by RefSeq, Sep 2009]

SFTPA1 Gene

surfactant protein A1

This g>gg>ene encodes a lung>gg> surfactant protein that is a member of a subfamily of C-type lectins called collectins. The encoded protein binds specific carbohydrate moieties found on lipids and on the surface of microorg>gg>anisms. This protein plays an essential role in surfactant homeostasis and in the defense ag>gg>ainst respiratory pathog>gg>ens. Mutations in this g>gg>ene are associated with idiopathic pulmonary fibrosis. Alternate splicing>gg> results in multiple transcript variants. [provided by RefSeq, May 2010]

LOC100419301 Gene

ribosomal protein S8 pseudog>gg>ene

LOC100419307 Gene

ribosomal protein L5 pseudog>gg>ene

CD2AP Gene

CD2-associated protein

This g>gg>ene encodes a scaffolding>gg> molecule that reg>gg>ulates the actin cytoskeleton. The protein directly interacts with filamentous actin and a variety of cell membrane proteins throug>gg>h multiple actin binding>gg> sites, SH3 domains, and a proline-rich reg>gg>ion containing>gg> binding>gg> sites for SH3 domains. The cytoplasmic protein localizes to membrane ruffles, lipid rafts, and the leading>gg> edg>gg>es of cells. It is implicated in dynamic actin remodeling>gg> and membrane trafficking>gg> that occurs during>gg> g>receptorg> endocytosis and cytokinesis. Haploinsufficiency of this g>gg>ene is implicated in susceptibility to g>gg>lomerular disease. [provided by RefSeq, Jul 2008]

BET1L Gene

Bet1 g>gg>olg>gg>i vesicular membrane trafficking>gg> protein-like

Enables SNAP g>receptorg> activity. Involved in reg>gg>ulation of retrog>gg>rade vesicle-mediated transport, g>Gg>olg>gg>i to ER and retrog>gg>rade transport, endosome to g>Gg>olg>gg>i. Located in g>Gg>olg>gg>i apparatus and endosome. Implicated in uterine fibroid. Biomarker of endometrial adenocarcinoma. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FAM231EP Gene

UPF0627 protein ENSP00000358171-like pseudog>gg>ene

NOM1 Gene

nucleolar protein with MIF4g>Gg> domain 1

Proteins that contain MIF4g>Gg> (middle of eIF4g>Gg> (MIM 600495)) and/or MA3 domains, such as NOM1, function in protein translation. These domains include binding>gg> sites for members of the EIF4A family of ATP-dependent DEAD box RNA helicases (see EIF4A1; MIM 602641) (Simmons et al., 2005 [PubMed 15715967]).[supplied by OMIM, Mar 2008]

RPL26P8 Gene

ribosomal protein L26 pseudog>gg>ene 8

LOC105371186 Gene

nuclear pore complex-interacting>gg> protein family member A5-like

RPL26P3 Gene

ribosomal protein L26 pseudog>gg>ene 3

Mg>Gg>C20647 Gene

uncharacterized protein Mg>Gg>C20647

LOC105371189 Gene

nuclear pore complex-interacting>gg> protein family member B9-like

PABPC1P13 Gene

poly(A) binding>gg> protein, cytoplasmic 1 pseudog>gg>ene 13

PABPC1P12 Gene

poly(A) binding>gg> protein, cytoplasmic 1 pseudog>gg>ene 12

PHF20L1 Gene

PHD fing>gg>er protein 20-like 1

Enables methylation-dependent protein binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of proteasomal ubiquitin-dependent protein catabolic process. Predicted to be located in nucleoplasm. Predicted to be part of NSL complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC101927092 Gene

protein g>Gg>VQW1-like

FLJ11710 Gene

uncharacterized protein FLJ11710

PABPC1P11 Gene

poly(A) binding>gg> protein, cytoplasmic 1 pseudog>gg>ene 11

PABPC1P10 Gene

poly(A) binding>gg> protein, cytoplasmic 1 pseudog>gg>ene 10

SELP Gene

selectin P (g>gg>ranule membrane protein 140kDa, antig>gg>en CD62)

This g>gg>ene encodes a 140 kDa protein that is stored in the alpha-g>gg>ranules of platelets and Weibel-Palade bodies of endothelial cells. This protein redistributes to the plasma membrane during>gg> platelet activation and deg>gg>ranulation and mediates the interaction of activated endothelial cells or platelets with leukocytes. The membrane protein is a calcium-dependent g>receptorg> that binds to sialylated forms of Lewis blood g>gg>roup carbohydrate antig>gg>ens on neutrophils and monocytes. Alternative splice variants may occur but are not well documented. [provided by RefSeq, Jul 2008]

MCRIP2 Gene

MAPK reg>gg>ulated corepressor interacting>gg> protein 2

Located in cytoplasmic stress g>gg>ranule and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ERBIN Gene

erbb2 interacting>gg> protein

This g>gg>ene is a member of the leucine-rich repeat and PDZ domain (LAP) family. The encoded protein contains 17 leucine-rich repeats and one PDZ domain. It binds to the unphosphorylated form of the ERBB2 protein and reg>gg>ulates ERBB2 function and localization. It has also been shown to affect the Ras sig>gg>naling>gg> pathway by disrupting>gg> Ras-Raf interaction. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Nov 2011]

CARMIL1 Gene

capping>gg> protein reg>gg>ulator and myosin 1 linker 1

Involved in several processes, including>gg> actin filament network formation; plasma membrane bounded cell projection org>gg>anization; and positive reg>gg>ulation of cellular component org>gg>anization. Located in several cellular components, including>gg> lamellipodium; macropinosome; and nuclear speck. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PHF24 Gene

PHD fing>gg>er protein 24

Predicted to enable transcription corepressor activity. Predicted to be involved in neg>gg>ative reg>gg>ulation of DNA-templated transcription. Predicted to act upstream of or within several processes, including>gg> detection of mechanical stimulus involved in sensory perception of pain; g>gg>amma-aminobutyric acid sig>gg>naling>gg> pathway; and reg>gg>ulation of g>Gg>ABAerg>gg>ic synaptic transmission. Predicted to be active in g>gg>lutamaterg>gg>ic synapse; nucleus; and synaptic vesicle membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MEAK7 Gene

MTOR associated protein, eak-7 homolog>gg>

Involved in several processes, including>gg> TOR sig>gg>naling>gg>; positive reg>gg>ulation of protein localization to lysosome; and response to insulin. Located in cytosol; lysosomal membrane; and nuclear lumen. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MAP3K20 Gene

mitog>gg>en-activated protein kinase kinase kinase 20

This g>gg>ene is a member of the MAPKKK family of sig>gg>nal transduction molecules and encodes a protein with an N-terminal kinase catalytic domain, followed by a leucine zipper motif and a sterile-alpha motif (SAM). This mag>gg>nesium-binding>gg> protein forms homodimers and is located in the cytoplasm. The protein mediates g>gg>amma radiation sig>gg>naling>gg> leading>gg> to cell cycle arrest and activity of this protein plays a role in cell cycle checkpoint reg>gg>ulation in cells. The protein also has pro-apoptotic activity. Alternate transcriptional splice variants, encoding>gg> different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

CAVIN2 Gene

caveolae associated protein 2

This g>gg>ene encodes a calcium-independent phospholipid-binding>gg> protein whose expression increases in serum-starved cells. This protein is a substrate for protein kinase C (PKC) phosphorylation and recruits polymerase I and transcript release factor (PTRF) to caveolae. Removal of this protein causes caveolae loss and its over-expression results in caveolae deformation and membrane tubulation.[provided by RefSeq, Sep 2009]

KIFBP Gene

kinesin family binding>gg> protein

This g>gg>ene encodes a kinesin family member 1 binding>gg> protein that is characterized by two tetratrico peptide repeats. The encoded protein localizes to the mitochondria and may be involved in reg>gg>ulating>gg> transport of the mitochondria. Mutations in this g>gg>ene are associated with g>Gg>oldberg>gg>-Shprintzen meg>gg>acolon syndrome. [provided by RefSeq, Mar 2010]

STEEP1 Gene

STINg>Gg>1 ER exit protein 1

While this g>gg>ene is well-supported by transcript data, no functional information on its protein products is currently available. Three transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Dec 2009]

ARHg>Gg>AP45 Gene

Rho g>Gg>TPase activating>gg> protein 45

Predicted to enable g>Gg>TPase activator activity. Predicted to be involved in neg>gg>ative reg>gg>ulation of small g>Gg>TPase mediated sig>gg>nal transduction. Located in cytosol and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PLPBP Gene

pyridoxal phosphate binding>gg> protein

This g>gg>ene encodes a pyridoxal 5'-phosphate binding>gg> protein involved in the homeostatic reg>gg>ulation of intracellular pyridoxal 5'-phosphate. This g>gg>ene has a tumor suppressive effect on hepatocellular carcinoma and other solid tumors of epithelial orig>gg>in. Naturally occurring>gg> mutations in this g>gg>ene are associated with a pyridoxine-dependent epilepsy. [provided by RefSeq, Mar 2017]

MCRIP1 Gene

MAPK reg>gg>ulated corepressor interacting>gg> protein 1

Involved in reg>gg>ulation of epithelial to mesenchymal transition. Located in cytoplasmic stress g>gg>ranule and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

EIPR1 Gene

EARP complex and g>Gg>ARP complex interacting>gg> protein 1

This g>gg>ene has been reported in PMID 9403053 as one of several tumor-suppressing>gg> subtransferable frag>gg>ments located in the imprinted g>gg>ene domain of 11p15.5, an important tumor-suppressor g>gg>ene reg>gg>ion. Alterations in this reg>gg>ion have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung>gg>, ovarian, and breast cancer. Alig>gg>nment of this g>gg>ene to g>gg>enomic sequence data sug>gg>g>gg>ests that this g>gg>ene resides on chromosome 2 rather than chromosome 11. [provided by RefSeq, Dec 2008]

CFAP251 Gene

cilia and flag>gg>ella associated protein 251

This protein encoded by this g>gg>ene belong>gg>s to the WD repeat-containing>gg> family of proteins, which function in the formation of protein-protein complexes in a variety of biolog>gg>ical pathways. This family member appears to function in the determination of mean platelet volume (MPV), and polymorphisms in this g>gg>ene have been associated with variance in MPV. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants. [provided by RefSeq, Sep 2011]

MIDEAS Gene

mitotic deacetylase associated SANT domain protein

Predicted to enable transcription corepressor activity. Predicted to be involved in neg>gg>ative reg>gg>ulation of DNA-templated transcription and reg>gg>ulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CENPS Gene

centromere protein S

This g>gg>ene was identified in the neuroblastoma tumor suppressor candidate reg>gg>ion on chromosome 1p36. It contains a TFIID-31 domain, similar to that found in TATA box-binding>gg> protein-associated factor, TAF(II)31, which is required for p53-mediated transcription activation. This g>gg>ene was expressed at very low levels in neuroblastoma tumors, and was shown to reduce cell g>gg>rowth in neuroblastoma cells, sug>gg>g>gg>esting>gg> that it may have a role in a cell death pathway. The protein is a component of multiple complexes, including>gg> the Fanconi anemia (FA) core complex, the APITD1/CENPS complex, and the CENPA-CAD (nucleosome distal) complex. Known functions include an involvement with chromatin associations of the FA core complex, and a role in the stable assembly of the outer kinetochore. Alternative splicing>gg> of this g>gg>ene results in multiple transcript variants. Naturally occurring>gg> read-throug>gg>h transcripts also exist between this g>gg>ene and the downstream cortistatin (CORT) g>gg>ene, as represented in g>Gg>eneID:100526739. An APITD1-related pseudog>gg>ene has been identified on chromosome 7. [provided by RefSeq, Nov 2010]

g>Gg>OLM2 Gene

g>gg>olg>gg>i membrane protein 2

The increased expression level of this g>gg>ene is associated with HER-2/neu proto-oncog>gg>ene overexpression. Amplification and resulting>gg> overexpression of this proto-oncog>gg>ene are found in approximately 30% of human breast and 20% of human ovarian cancers. Alternatively spliced variants encoding>gg> different isoforms have been identified for this g>gg>ene. [provided by RefSeq, Dec 2010]

CENPX Gene

centromere protein X

Enables DNA binding>gg> activity. Contributes to double-stranded DNA binding>gg> activity. Involved in interstrand cross-link repair; replication fork processing>gg>; and resolution of meiotic recombination intermediates. Part of chromosome and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RO60 Gene

Ro60, Y RNA binding>gg> protein

Enables RNA binding>gg> activity. Involved in cellular response to interferon-alpha and reg>gg>ulation of g>gg>ene expression. Located in cytosol and nuclear body. Part of ribonucleoprotein complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PRORP Gene

protein only RNase P catalytic subunit

Enables ribonuclease P activity. Involved in mitochondrial tRNA 5'-end processing>gg>. Located in mitochondrion and nucleoplasm. Part of mitochondrial ribonuclease P complex. Implicated in combined oxidative phosphorylation deficiency 54. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MAIP1 Gene

matrix AAA peptidase interacting>gg> protein 1

Predicted to enable ribosome binding>gg> activity. Involved in calcium import into the mitochondrion; mitochondrial calcium ion homeostasis; and protein insertion into mitochondrial membrane. Located in mitochondrial matrix. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CRACD Gene

capping>gg> protein inhibiting>gg> reg>gg>ulator of actin dynamics

Involved in neg>gg>ative reg>gg>ulation of barbed-end actin filament capping>gg>. Predicted to be located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CARMIL2 Gene

capping>gg> protein reg>gg>ulator and myosin 1 linker 2

This g>gg>ene encodes a member of the CARMIL (capping>gg> protein, Arp2/3, myosin-I linker) family of proteins. The encoded protein interacts with and neg>gg>atively reg>gg>ulates the heterodimeric capping>gg> protein and promotes cell mig>gg>ration. Reduced expression of this g>gg>ene has been observed in human psoriasis patients. Mutations in this g>gg>ene cause a human immunodeficiency syndrome characterized by smooth muscle tumors and impaired T-cell function. [provided by RefSeq, May 2017]

CAVIN3 Gene

caveolae associated protein 3

The protein encoded by this g>gg>ene was identified as a binding>gg> protein of the protein kinase C, delta (PRKCD). The expression of this g>gg>ene in cultured cell lines is strong>gg>ly induced by serum starvation. The expression of this protein was found to be down-reg>gg>ulated in various cancer cell lines, sug>gg>g>gg>esting>gg> the possible tumor suppressor function of this protein. [provided by RefSeq, Jul 2008]

HIKESHI Gene

heat shock protein nuclear import factor hikeshi

This g>gg>ene encodes an evolutionarily conserved nuclear transport g>receptorg> that mediates heat-shock-induced nuclear import of 70 kDa heat-shock proteins (Hsp70s) throug>gg>h interactions with Fg>Gg>-nucleoporins. The protein mediates transport of the ATP form but not the ADP form of Hsp70 proteins under conditions of heat shock stress. Structural analyses demonstrate that the protein forms an asymmetric homodimer and that the N-terminal domain consists of a jelly-roll/beta-sandwich fold structure that contains hydrophobic pockets involved in Fg>Gg>-nucleoporin recog>gg>nition. Reduction of RNA expression levels in HeLa cells using>gg> small interfering>gg> RNAs results in inhibition of heat shock-induced nuclear accumulation of Hsp70s, indicating>gg> a role for this g>gg>ene in reg>gg>ulation of Hsp70 nuclear import during>gg> heat shock stress. [provided by RefSeq, Apr 2016]

CEP43 Gene

centrosomal protein 43

This g>gg>ene encodes a larg>gg>ely hydrophilic centrosomal protein that is required for anchoring>gg> microtubules to subcellular structures. A t(6;8)(q27;p11) chromosomal translocation, fusing>gg> this g>gg>ene and the fibroblast g>gg>rowth factor g>receptorg> 1 (Fg>Gg>FR1) g>gg>ene, has been found in cases of myeloproliferative disorder. The resulting>gg> chimeric protein contains the N-terminal leucine-rich reg>gg>ion of this encoded protein fused to the catalytic domain of Fg>Gg>FR1. Alterations in this g>gg>ene may also be associated with Crohn's disease, g>Gg>raves' disease, and vitilig>gg>o. Alternatively spliced transcript variants that encode different proteins have been identified. [provided by RefSeq, Jul 2013]

PTPA Gene

protein phosphatase 2 phosphatase activator

Protein phosphatase 2A is one of the four major Ser/Thr phosphatases and is implicated in the neg>gg>ative control of cell g>gg>rowth and division. Protein phosphatase 2A holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a reg>gg>ulatory subunit B. The reg>gg>ulatory subunit is encoded by a diverse set of g>gg>enes that have been g>gg>rouped into the B/PR55, B'/PR61, and B''/PR72 families. These different reg>gg>ulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this g>gg>ene belong>gg>s to the B' family. This g>gg>ene encodes a specific phosphotyrosyl phosphatase activator of the dimeric form of protein phosphatase 2A. Alternative splicing>gg> results in multiple transcript variants encoding>gg> different isoforms. [provided by RefSeq, Jul 2008]

MRPL58 Gene

mitochondrial ribosomal protein L58

The protein encoded by this g>gg>ene is a peptidyl-tRNA hydrolase and a vital component of the larg>gg>e mitochondrial ribosome. The encoded protein serves as a ribosome release factor for this ribosome, which translates mitochondrial g>gg>enes. This protein may be responsible for deg>gg>rading>gg> prematurely-terminated polypeptides and for reusing>gg> stalled ribosomes. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Dec 2014]

PSME3IP1 Gene

proteasome activator subunit 3 interacting>gg> protein 1

Involved in neg>gg>ative reg>gg>ulation of proteasomal protein catabolic process. Located in nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NEMP1 Gene

nuclear envelope integ>gg>ral membrane protein 1

Involved in nuclear membrane org>gg>anization. Predicted to be located in nuclear inner membrane. Predicted to be active in nuclear envelope. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CZIB Gene

CXXC motif containing>gg> zinc binding>gg> protein

Enables zinc ion binding>gg> activity. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

VPS35L Gene

VPS35 endosomal protein sorting>gg> factor like

Involved in g>Gg>olg>gg>i to plasma membrane transport and endocytic recycling>gg>. Located in endosome. Implicated in Ritscher-Schinzel syndrome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PPP4R3B Gene

protein phosphatase 4 reg>gg>ulatory subunit 3B

Predicted to enable protein phosphatase activator activity. Involved in reg>gg>ulation of double-strand break repair. Located in centrosome and nuclear speck. Part of chromatin and protein phosphatase 4 complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FYB1 Gene

FYN binding>gg> protein 1

The protein encoded by this g>gg>ene is an adapter for the FYN protein and LCP2 sig>gg>naling>gg> cascades in T-cells. The encoded protein is involved in platelet activation and controls the expression of interleukin-2. Three transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2011]

CFAP298 Gene

cilia and flag>gg>ella associated protein 298

This g>gg>ene encodes a protein that plays a critical role in dynein arm assembly and motile cilia function. Mutations in this g>gg>ene result in primary ciliary dyskinesia. Naturally occuring>gg> readthroug>gg>h transcription occurs from this locus to the downstream t-complex 10 like (TCP10L) g>gg>ene. [provided by RefSeq, Apr 2017]

PPP4R3A Gene

protein phosphatase 4 reg>gg>ulatory subunit 3A

Predicted to enable protein phosphatase activator activity. Predicted to be involved in DNA damag>gg>e response and reg>gg>ulation of double-strand break repair. Predicted to act upstream of or within positive reg>gg>ulation of g>gg>luconeog>gg>enesis and protein dephosphorylation. Located in cytosol and nuclear speck. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CFAP65 Gene

cilia and flag>gg>ella associated protein 65

The protein encoded by this g>gg>ene has putative coiled-coil domains and may be a transmembrane protein. The chicken ortholog>gg> of this g>gg>ene is involved in the Rose-comb mutation, which is a larg>gg>e chromosome inversion, resulting>gg> in altered comb morpholog>gg>y and defects in sperm motility. [provided by RefSeq, Aug>gg> 2016]

VPS26C Gene

VPS26 endosomal protein sorting>gg> factor C

The reg>gg>ion of chromosome 21 between g>gg>enes CBR and ERg>Gg> (CBR-ERg>Gg> reg>gg>ion), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes sig>gg>nificantly to the pathog>gg>enesis of many characteristics of Down syndrome, including>gg> morpholog>gg>ical features, hypotonia, and cog>gg>nitive disability. The DSCR3 (Down syndrome critical reg>gg>ion g>gg>ene 3) g>gg>ene is found in this reg>gg>ion and is predictated to contain eig>gg>ht exons. DSCR3 is expressed in most tissues examined. [provided by RefSeq, Jul 2008]

CAVIN1 Gene

caveolae associated protein 1

This g>gg>ene encodes a protein that enables the dissociation of paused ternary polymerase I transcription complexes from the 3' end of pre-rRNA transcripts. This protein reg>gg>ulates rRNA transcription by promoting>gg> the dissociation of transcription complexes and the reinitiation of polymerase I on nascent rRNA transcripts. This protein also localizes to caveolae at the plasma membrane and is thoug>gg>ht to play a critical role in the formation of caveolae and the stabilization of caveolins. This protein translocates from caveolae to the cytoplasm after insulin stimulation. Caveolae contain truncated forms of this protein and may be the site of phosphorylation-dependent proteolysis. This protein is also thoug>gg>ht to modify lipid metabolism and insulin-reg>gg>ulated g>gg>ene expression. Mutations in this g>gg>ene result in a disorder characterized by g>gg>eneralized lipodystrophy and muscular dystrophy. [provided by RefSeq, Nov 2009]

MRNIP Gene

MRN complex interacting>gg> protein

Enables chromatin binding>gg> activity. Involved in several processes, including>gg> mitotic g>Gg>2 DNA damag>gg>e checkpoint sig>gg>naling>gg>; reg>gg>ulation of double-strand break repair; and response to ionizing>gg> radiation. Located in Mre11 complex and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

DERPC Gene

DERPC proline and g>gg>lycine rich nuclear protein

Located in nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

DIPK1B Gene

diverg>gg>ent protein kinase domain 1B

This g>gg>ene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided by RefSeq, Nov 2011]

CBARP Gene

CACN subunit beta associated reg>gg>ulatory protein

Predicted to enable transmembrane transporter binding>gg> activity. Predicted to be involved in neg>gg>ative reg>gg>ulation of calcium ion-dependent exocytosis and neg>gg>ative reg>gg>ulation of voltag>gg>e-g>gg>ated calcium channel activity. Predicted to be located in g>gg>rowth cone and secretory g>gg>ranule. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TSPOAP1 Gene

TSPO associated protein 1

Enables benzodiazepine g>receptorg> binding>gg> activity. Involved in reg>gg>ulation of neurotransmitter secretion. Located in mitochondrion. Implicated in dystonia 22, adult-onset and dystonia 22, juvenile-onset. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

BICRA Gene

BRD4 interacting>gg> chromatin remodeling>gg> complex associated protein

Enables transcription reg>gg>ulator activator activity. Involved in positive reg>gg>ulation of DNA-templated transcription. Located in nucleus. Part of SWI/SNF complex. Implicated in Coffin-Siris syndrome 12. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

DIPK1A Gene

diverg>gg>ent protein kinase domain 1A

This g>gg>ene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Nov 2011]

DOP1A Gene

DOP1 leucine zipper like protein A

Predicted to be involved in g>Gg>olg>gg>i to endosome transport and endoplasmic reticulum org>gg>anization. Predicted to be located in g>Gg>olg>gg>i membrane. Predicted to be active in endosome and trans-g>Gg>olg>gg>i network. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CFAP410 Gene

cilia and flag>gg>ella associated protein 410

Four alternatively spliced transcript variants encoding>gg> four different isoforms have been found for this nuclear g>gg>ene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the targ>gg>et peptide, so is not located in mitochondrion. This g>gg>ene is down-reg>gg>ulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012]

Pg>Gg>g>Gg>Hg>Gg> Gene

protein-g>gg>lucosylg>gg>alactosylhydroxylysine g>gg>lucosidase

Enables protein-g>gg>lucosylg>gg>alactosylhydroxylysine g>gg>lucosidase activity. Involved in carbohydrate metabolic process. Located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

DOP1B Gene

DOP1 leucine zipper like protein B

Involved in cog>gg>nition and embryonic pattern specification. Located in early endosome membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM94 Gene

transmembrane protein 94

Enables P-type mag>gg>nesium transporter activity. Involved in mag>gg>nesium ion transport from cytosol to endoplasmic reticulum. Is active in endoplasmic reticulum membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF724 Gene

zinc fing>gg>er protein 724

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM26 Gene

small integ>gg>ral membrane protein 26

Enables protein kinase binding>gg> activity and transmembrane transporter binding>gg> activity. Located in mitochondrial outer membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NEMP2 Gene

nuclear envelope integ>gg>ral membrane protein 2

Predicted to be located in nuclear inner membrane. Predicted to be active in nuclear envelope. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

POg>Gg>LUT2 Gene

protein O-g>gg>lucosyltransferase 2

This g>gg>ene encodes a protein product localized to the lumen of the endoplasmic reticulum. As a member of the endoplasmic reticulum protein family the encoded protein contains a Lys-Asp-g>Gg>lu-Leu or KDEL motif located at the extreme C-terminus which prevents all endoplasmic reticulum resident proteins from being>gg> secreted. Proteins carrying>gg> this motif are bound by a g>receptorg> in the g>Gg>olg>gg>i apparatus so that the g>receptorg>-lig>gg>and complex returns to the endoplasmic reticulum. A processed non-transcribed pseudog>gg>ene located in an intron of a sodium transporter g>gg>ene on chromosome 5 has been defined for this g>gg>ene. This g>gg>ene has multiple transcript variants which are predicted to encode distinct isoforms. [provided by RefSeq, Jan 2016]

SVBP Gene

small vasohibin binding>gg> protein

Enables microtubule binding>gg> activity and peptidase activator activity. Involved in axon development; proteolysis; and reg>gg>ulation of metallopeptidase activity. Acts upstream of or within neg>gg>ative reg>gg>ulation of endothelial cell mig>gg>ration; neg>gg>ative reg>gg>ulation of protein ubiquitination; and protein secretion. Located in apical part of cell. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

EPOP Gene

elong>gg>in BC and polycomb repressive complex 2 associated protein

Predicted to enable chromatin binding>gg> activity. Predicted to be involved in neuron fate commitment; reg>gg>ulation of transcription by RNA polymerase II; and stem cell differentiation. Predicted to be located in chromosome and nucleus. Predicted to be part of ESC/E(Z) complex and elong>gg>in complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

DIPK2A Gene

diverg>gg>ent protein kinase domain 2A

Involved in several processes, including>gg> cardiac muscle cell proliferation; neg>gg>ative reg>gg>ulation of smooth muscle cell apoptotic process; and positive reg>gg>ulation of protein kinase C activity. Located in g>Gg>olg>gg>i membrane and extracellular space. Part of COPI vesicle coat. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FAAP24 Gene

FA core complex associated protein 24

FAAP24 is a component of the Fanconi anemia (FA) core complex (see MIM 227650), which plays a crucial role in DNA damag>gg>e response (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008]

BICRAL Gene

BICRA like chromatin remodeling>gg> complex associated protein

Predicted to be involved in positive reg>gg>ulation of DNA-templated transcription. Part of SWI/SNF complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

POg>Gg>LUT3 Gene

protein O-g>gg>lucosyltransferase 3

Enables UDP-g>gg>lucosyltransferase activity and UDP-xylosyltransferase activity. Involved in protein O-linked g>gg>lycosylation via serine. Predicted to be located in endoplasmic reticulum lumen. Predicted to be active in endomembrane system. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MAP3K21 Gene

mitog>gg>en-activated protein kinase kinase kinase 21

Predicted to enable JUN kinase kinase kinase activity and protein homodimerization activity. Predicted to be involved in protein autophosphorylation and sig>gg>nal transduction. Predicted to be active in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FAAP100 Gene

FA core complex associated protein 100

FAAP100 is a component of the Fanconi anemia (FA; MIM 277650) core complex and is required for core complex stability and FANCD2 (see MIM 227646) monoubiquitination (Ling>gg> et al., 2007 [PubMed 17396147]).[supplied by OMIM, Mar 2008]

HASPIN Gene

histone H3 associated protein kinase

Enables ATP binding>gg> activity and histone H3T3 kinase activity. Involved in several processes, including>gg> mitotic sister chromatid cohesion; mitotic spindle assembly checkpoint sig>gg>naling>gg>; and protein localization to chromosome, centromeric reg>gg>ion. Located in centrosome; nucleoplasm; and spindle. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM41 Gene

small integ>gg>ral membrane protein 41

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM275 Gene

transmembrane protein 275

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM36 Gene

small integ>gg>ral membrane protein 36

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM33 Gene

small integ>gg>ral membrane protein 33

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TAF11L12 Gene

TATA-box binding>gg> protein associated factor 11 like 12

Predicted to enable protein heterodimerization activity. Predicted to contribute to RNA polymerase II g>gg>eneral transcription initiation factor activity. Predicted to be involved in RNA polymerase II preinitiation complex assembly. Predicted to be located in nucleus. Predicted to be part of transcription factor TFIID complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM40 Gene

small integ>gg>ral membrane protein 40

Predicted to be located in membrane. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TAF11L9 Gene

TATA-box binding>gg> protein associated factor 11 like 9

Predicted to enable protein heterodimerization activity. Predicted to contribute to RNA polymerase II g>gg>eneral transcription initiation factor activity. Predicted to be involved in RNA polymerase II preinitiation complex assembly. Predicted to be located in nucleus. Predicted to be part of transcription factor TFIID complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC122513141 Gene

ring>gg> fing>gg>er protein-like

LOC122539214 Gene

Zinc fing>gg>er protein LOC122539214

TAF11L13 Gene

TATA-box binding>gg> protein associated factor 11 like 13

Predicted to enable protein heterodimerization activity. Predicted to contribute to RNA polymerase II g>gg>eneral transcription initiation factor activity. Predicted to be involved in RNA polymerase II preinitiation complex assembly. Predicted to be located in nucleus. Predicted to be part of transcription factor TFIID complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TAF11L11 Gene

TATA-box binding>gg> protein associated factor 11 like 11

Predicted to enable protein heterodimerization activity. Predicted to contribute to RNA polymerase II g>gg>eneral transcription initiation factor activity. Predicted to be involved in RNA polymerase II preinitiation complex assembly. Predicted to be located in nucleus. Predicted to be part of transcription factor TFIID complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC107984156 Gene

ADP-ribosylation factor-like protein 17

TAF11L14 Gene

TATA-box binding>gg> protein associated factor 11 like 14

Predicted to enable protein heterodimerization activity. Predicted to contribute to RNA polymerase II g>gg>eneral transcription initiation factor activity. Predicted to be involved in RNA polymerase II preinitiation complex assembly. Predicted to be located in nucleus. Predicted to be part of transcription factor TFIID complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PMIS2 Gene

PMIS2 transmembrane protein

Predicted to act upstream of or within binding>gg> activity of sperm to zona pellucida. Predicted to be active in intracellular membrane-bounded org>gg>anelle and membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM276 Gene

transmembrane protein 276

Predicted to enable zinc ion binding>gg> activity. Predicted to be located in membrane; nuclear envelope; and perinuclear reg>gg>ion of cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CSNKA2IP Gene

casein kinase 2 subunit alpha' interacting>gg> protein

Predicted to be located in male g>gg>erm cell nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM38 Gene

small integ>gg>ral membrane protein 38

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM271 Gene

transmembrane protein 271

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM267 Gene

transmembrane protein 267

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LORICRIN Gene

loricrin cornified envelope precursor protein

This g>gg>ene encodes loricrin, a major protein component of the cornified cell envelope found in terminally differentiated epidermal cells. Mutations in this g>gg>ene are associated with Vohwinkel's syndrome and prog>gg>ressive symmetric erythrokeratoderma, both inherited skin diseases. [provided by RefSeq, Jul 2008]

BBLN Gene

bublin coiled coil protein

Enables molecular adaptor activity. Involved in intermediate filament bundle assembly. Located in cell junction; polymeric cytoskeletal fiber; and subapical part of cell. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

BLTP2 Gene

bridg>gg>e-like lipid transfer protein family member 2

This g>gg>ene was initially characterized in human as having>gg> hig>gg>h expression levels in breast carcinomas and breast cancer cell lines. This g>gg>ene also has increased expression in prostrate cancer cells relative to normal prostrate tissues. Expression of this g>gg>ene is neg>gg>atively reg>gg>ulated by direct binding>gg> of the microRNA miR-195 to its 3' UTR. miR-195 has been shown to modulate the invasiveness of prostrate cancer cells and xenog>gg>raft metastases by downg>gg>rading>gg> expression of this g>gg>ene. In mouse, the protein encoded by this g>gg>ene was identified as an antig>gg>en on acute monocytic leukemia cells. In human, alternative splicing>gg> results in multiple transcript variants encoding>gg> distinct isoforms; some of these isoforms are predicted to contain an RNA pol II promoter FMP27 protein domain and a g>Gg>olg>gg>i-body-localization APT1 domain. [provided by RefSeq, Apr 2017]

TMEM35A Gene

transmembrane protein 35A

Enables acetylcholine g>receptorg> reg>gg>ulator activity. Involved in chaperone-mediated protein complex assembly and positive reg>gg>ulation of protein localization to cell surface. Located in endoplasmic reticulum. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM27 Gene

small integ>gg>ral membrane protein 27

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

BLTP1 Gene

bridg>gg>e-like lipid transfer protein family member 1

This g>gg>ene is located on the long>gg> arm of chromosome 4 in a reg>gg>ion that is associated with susceptibility to celiac disease. The encoded protein is similar to a Chinese hamster protein that is associated with spermatocyte and adipocyte differentiation. The C-terminus of the protein is also similar to a Caenorhabditis eleg>gg>ans protein that plays a role in lipid storag>gg>e. In mammals, this protein is thoug>gg>ht to function in the reg>gg>ulation of epithelial g>gg>rowth and differentiation, and in tumor development. [provided by RefSeq, Oct 2009]

TMEM268 Gene

transmembrane protein 268

Predicted to be located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FHIP2B Gene

FHF complex subunit HOOK interacting>gg> protein 2B

KATNIP Gene

katanin interacting>gg> protein

This g>gg>ene encodes a novel, evolutionarily conserved, ciliary protein. In human hTERT-RPE1 cells, the protein is found at the base of cilia, decorating>gg> the ciliary axoneme, and enriched at the ciliary tip. The protein binds to microtubules in vitro and reg>gg>ulates their stability when it is overexpressed. A null mutation in this g>gg>ene has been associated with Joubert syndrome, a recessive disorder that is characterized by a distinctive mid-hindbrain and cerebellar malformation and is also often associated with wider ciliopathy symptoms. Consistently, in a serum-starvation ciliog>gg>enesis assay, human fibroblast cells derived from patients with the mutation display a reduced number of ciliated cells with abnormally long>gg> cilia. [provided by RefSeq, Feb 2016]

BLTP3B Gene

bridg>gg>e-like lipid transfer protein family member 3B

Enables g>Gg>ARP complex binding>gg> activity; lipid transfer activity; and protein homodimerization activity. Involved in early endosome to g>Gg>olg>gg>i transport and intermembrane lipid transfer. Located in cytosol and early endosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PALS1 Gene

protein associated with LIN7 1, MAg>Gg>UK p55 family member

This g>gg>ene encodes a member of the p55-like subfamily of the membrane-associated g>gg>uanylate kinase (MAg>Gg>UK) g>gg>ene superfamily. The encoded protein participates in the polarization of differentiating>gg> cells, has been shown to reg>gg>ulate myelinating>gg> Schwann cells (PMID: 20237282), and is one of the components of the Crumbs complex in the retina. Mice which express lower levels of the ortholog>gg>ous protein have retinal deg>gg>eneration and impaired vision (PMID: 22114289). Multiple transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Feb 2012]

TESMIN Gene

testis expressed metallothionein like protein

Metallothionein proteins are hig>gg>hly conserved low-molecular-weig>gg>ht cysteine-rich proteins that are induced by and bind to heavy metal ions and have no enzymatic activity. They may play a central role in the reg>gg>ulation of cell g>gg>rowth and differentiation and are involved in spermatog>gg>enesis. This g>gg>ene encodes a metallothionein-like protein which has been shown to be expressed differentially in mouse testis and ovary. Two transcript variants encoding>gg> different isoforms have been found for this g>gg>ene. [provided by RefSeq, Jul 2008]

TRAPPC14 Gene

trafficking>gg> protein particle complex subunit 14

Enables alpha-tubulin binding>gg> activity. Involved in cilium assembly and reg>gg>ulation of cell population proliferation. Located in several cellular components, including>gg> microtubule cytoskeleton; midbody; and plasma membrane. Part of TRAPPII protein complex. Implicated in primary autosomal recessive microcephaly. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CFAP418 Gene

cilia and flag>gg>ella associated protein 418

This g>gg>ene encodes a ubiquitously expressed protein of unknown function. It has hig>gg>h levels of mRNA expression in the brain, heart, and retina and the protein co-localizes with polyg>gg>lutamylated tubulin at the base of the primary cilium in human retinal pig>gg>ment epithelial cells. Mutations in this g>gg>ene have been associated with autosomal recessive cone-rod dystrophy (arCRD) and retinitis pig>gg>mentosa (arRP). [provided by RefSeq, Mar 2012]

CFAP77 Gene

cilia and flag>gg>ella associated protein 77

Predicted to be involved in flag>gg>ellated sperm motility. Located in axonemal microtubule. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CARMIL3 Gene

capping>gg> protein reg>gg>ulator and myosin 1 linker 3

Predicted to be involved in cell mig>gg>ration and reg>gg>ulation of Arp2/3 complex-mediated actin nucleation. Located in cytoplasm and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CFAP119 Gene

cilia and flag>gg>ella associated protein 119

Predicted to act upstream of or within g>gg>ene expression; sing>gg>le fertilization; and sperm flag>gg>ellum assembly. Predicted to be located in acrosomal vesicle and sperm principal piece. Predicted to be part of radial spoke. Predicted to be active in axoneme. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CAVIN4 Gene

caveolae associated protein 4

This g>gg>ene encodes a protein containing>gg> two coiled-coil reg>gg>ions. The encoded protein promotes Rho/ROCK (Rho-kinase) sig>gg>naling>gg> in cardiac muscles cells, and may facilitate myofibrillar org>gg>anization. [provided by RefSeq, Jun 2013]

DIPK2B Gene

diverg>gg>ent protein kinase domain 2B

Predicted to be located in extracellular reg>gg>ion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TAMALIN Gene

trafficking>gg> reg>gg>ulator and scaffold protein tamalin

This g>gg>ene encodes a protein that functions as a molecular scaffold, linking>gg> g>receptorg>s, including>gg> g>gg>roup 1 metabotropic g>gg>lutamate g>receptorg>s, to neuronal proteins. The encoded protein contains conserved domains, including>gg> a leucine zipper sequence, PDZ domain and a C-terminal PDZ-binding>gg> motif. Alternately spliced transcript variants have been observed for this g>gg>ene.[provided by RefSeq, Dec 2012]

CFAP210 Gene

cilia and flag>gg>ella associated protein 210

Predicted to be involved in flag>gg>ellated sperm motility. Located in axonemal microtubule. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM35B Gene

transmembrane protein 35B

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM29 Gene

small integ>gg>ral membrane protein 29

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

BNIP5 Gene

BCL2 interacting>gg> protein 5

CFAP300 Gene

cilia and flag>gg>ella associated protein 300

Predicted to be located in cytoplasm and motile cilium. Implicated in primary ciliary dyskinesia 38. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PALS2 Gene

protein associated with LIN7 2, MAg>Gg>UK p55 family member

Members of the peripheral membrane-associated g>gg>uanylate kinase (MAg>Gg>UK) family function in tumor suppression and g>receptorg> clustering>gg> by forming>gg> multiprotein complexes containing>gg> distinct sets of transmembrane, cytoskeletal, and cytoplasmic sig>gg>naling>gg> proteins. All MAg>Gg>UKs contain a PDZ-SH3-g>Gg>UK core and are divided into 4 subfamilies, DLg>Gg>-like (see DLg>Gg>1; MIM 601014), ZO1-like (see TJP1; MIM 601009), p55-like (see MPP1; MIM 305360), and LIN2-like (see CASK; MIM 300172), based on their size and the presence of additional domains. MPP6 is a member of the p55-like MAg>Gg>UK subfamily (Tseng>gg> et al., 2001 [PubMed 11311936]).[supplied by OMIM, Mar 2008]

PRKN Gene

parkin RBR E3 ubiquitin protein lig>gg>ase

The precise function of this g>gg>ene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin lig>gg>ase complex that mediates the targ>gg>eting>gg> of substrate proteins for proteasomal deg>gg>radation. Mutations in this g>gg>ene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Alternative splicing>gg> of this g>gg>ene produces multiple transcript variants encoding>gg> distinct isoforms. Additional splice variants of this g>gg>ene have been described but currently lack transcript support. [provided by RefSeq, Jul 2008]

TMEM250 Gene

transmembrane protein 250

Predicted to enable g>Gg>TPase activity and molecular adaptor activity. Involved in positive reg>gg>ulation of cell population proliferation and positive reg>gg>ulation of viral process. Located in cytoplasm and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FHIP1B Gene

FHF complex subunit HOOK interacting>gg> protein 1B

The protein encoded by this g>gg>ene is part of the FTS/Hook/FHIP (FHF) complex, which can interact with members of the homotypic vesicular protein sorting>gg> (HOPS) complex. This interaction sug>gg>g>gg>ests that the encoded protein is involved in vesicle trafficking>gg>. [provided by RefSeq, Dec 2016]

NEPRO Gene

nucleolus and neural prog>gg>enitor protein

Predicted to be involved in neg>gg>ative reg>gg>ulation of neuron differentiation and positive reg>gg>ulation of Notch sig>gg>naling>gg> pathway. Predicted to be located in nucleolus. Predicted to be active in nucleus. Implicated in anauxetic dysplasia 3. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

BLTP3A Gene

bridg>gg>e-like lipid transfer protein family member 3A

Enables histone deacetylase binding>gg> activity and identical protein binding>gg> activity. Located in late endosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NOPCHAP1 Gene

NOP protein chaperone 1

Enables box C/D methylation g>gg>uide snoRNP complex binding>gg> activity. Involved in box C/D snoRNP assembly. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CEP20 Gene

centrosomal protein 20

Enables identical protein binding>gg> activity. Involved in cilium assembly. Located in centriolar satellite and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM266 Gene

transmembrane protein 266

Enables protein homodimerization activity. Predicted to be involved in transmembrane transport. Located in cytosol; dendrite; and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FHIP1A Gene

FHF complex subunit HOOK interacting>gg> protein 1A

Involved in protein localization to perinuclear reg>gg>ion of cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CFAP100 Gene

cilia and flag>gg>ella associated protein 100

Predicted to enable dynein complex binding>gg> activity. Predicted to be involved in cilium movement and inner dynein arm assembly. Located in ciliary basal body. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

HAPSTR1 Gene

HUWE1 associated protein modifying>gg> stress responses

Enables ubiquitin protein lig>gg>ase binding>gg> activity. Involved in neg>gg>ative reg>gg>ulation of sig>gg>nal transduction by p53 class mediator and reg>gg>ulation of cellular response to stress. Located in cytoplasm and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RNF227 Gene

ring>gg> fing>gg>er protein 227

Predicted to enable ubiquitin protein lig>gg>ase activity. Predicted to be involved in protein ubiquitination. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FAAP20 Gene

FA core complex associated protein 20

Enables K63-linked polyubiquitin modification-dependent protein binding>gg> activity and ubiquitin-modified protein reader activity. Involved in interstrand cross-link repair and translesion synthesis. Located in cell junction; chromosome; and nuclear body. Part of Fanconi anaemia nuclear complex and chromatin. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TEKTIP1 Gene

tektin bundle interacting>gg> protein 1

Predicted to be involved in flag>gg>ellated sperm motility. Predicted to be located in axonemal microtubule. Predicted to be active in axonemal A tubule inner sheath and sperm flag>gg>ellum. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NUPR2 Gene

nuclear protein 2, transcriptional reg>gg>ulator

Involved in several processes, including>gg> cellular response to starvation; neg>gg>ative reg>gg>ulation of cell population proliferation; and neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II. Located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CFAP157 Gene

cilia and flag>gg>ella associated protein 157

Predicted to enable microtubule binding>gg> activity. Predicted to be involved in sperm axoneme assembly. Located in cytosol; intracellular membrane-bounded org>gg>anelle; and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FHIP2A Gene

FHF complex subunit HOOK interacting>gg> protein 2A

CFAP141 Gene

cilia and flag>gg>ella associated protein 141

Predicted to be involved in flag>gg>ellated sperm motility. Located in axonemal microtubule. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

DIPK1C Gene

diverg>gg>ent protein kinase domain 1C

This g>gg>ene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided by RefSeq, Nov 2011]

TMEM121B Gene

transmembrane protein 121B

FBXL9P Gene

F-box and leucine rich repeat protein, pseudog>gg>ene

This g>gg>ene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein lig>gg>ase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing>gg> WD-40 domains, Fbls containing>gg> leucine-rich repeats, and Fbxs containing>gg> either different protein-protein interaction modules or no recog>gg>nizable motifs. The protein encoded by this g>gg>ene belong>gg>s to the Fbls class and, in addition to an F-box, contains 9 tandem leucine-rich repeats. Two transcript variants encoding>gg> the same protein have been found for this g>gg>ene. Other variants may occur, but their full-leng>gg>th natures have not been characterized. [provided by RefSeq, Jul 2008]

TERB1 Gene

telomere repeat binding>gg> bouquet formation protein 1

Predicted to be involved in homolog>gg>ous chromosome pairing>gg> at meiosis and meiotic attachment of telomere to nuclear envelope. Predicted to act upstream of or within double-strand break repair involved in meiotic recombination. Predicted to be located in nuclear inner membrane and shelterin complex. Implicated in spermatog>gg>enic failure 60. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM273 Gene

transmembrane protein 273

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FBXL21P Gene

F-box and leucine rich repeat protein 21, pseudog>gg>ene

This locus represents a transcribed pseudog>gg>ene that is related to g>gg>enes encoding>gg> members of the F-box family of proteins. [provided by RefSeq, Nov 2017]

LINC02618 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2618

CFAP68 Gene

cilia and flag>gg>ella associated protein 68

Predicted to be involved in flag>gg>ellated sperm motility. Located in axoneme and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CFAP91 Gene

cilia and flag>gg>ella associated protein 91

Involved in axonemal central apparatus assembly and spermatog>gg>enesis. Predicted to be located in motile cilium and radial spoke stalk. Implicated in spermatog>gg>enic failure 51. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CFAP161 Gene

cilia and flag>gg>ella associated protein 161

Predicted to be involved in cilium assembly and flag>gg>ellated sperm motility. Located in axonemal microtubule. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

DEUP1 Gene

deuterosome assembly protein 1

Enables identical protein binding>gg> activity. Predicted to be involved in centriole replication and de novo centriole assembly involved in multi-ciliated epithelial cell differentiation. Predicted to be located in cytoplasm and membrane. Predicted to be active in centriole and deuterosome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CFAP206 Gene

cilia and flag>gg>ella associated protein 206

Predicted to be involved in reg>gg>ulation of cilium beat frequency; reg>gg>ulation of flag>gg>ellated sperm motility; and sperm axoneme assembly. Predicted to be located in A axonemal microtubule and motile cilium. Predicted to be part of radial spoke. Predicted to be active in axoneme and ciliary basal body. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CENPVL3 Gene

centromere protein V like 3

Predicted to enable carbon-sulfur lyase activity and metal ion binding>gg> activity. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC02249 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2249

TSBP1 Gene

testis expressed basic protein 1

Located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC01963 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1963

TSPY9 Gene

testis specific protein Y-linked 9

Predicted to enable chromatin binding>gg> activity and histone binding>gg> activity. Predicted to be involved in several processes, including>gg> g>gg>onadal mesoderm development; nucleosome assembly; and spermatog>gg>enesis. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

PPP4R3C Gene

protein phosphatase 4 reg>gg>ulatory subunit 3C

Predicted to enable protein phosphatase activator activity. Predicted to be involved in DNA damag>gg>e response and reg>gg>ulation of double-strand break repair. Predicted to be located in nucleus. Predicted to be part of protein phosphatase 4 complex. Predicted to be active in nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM270 Gene

transmembrane protein 270

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TERB2 Gene

telomere repeat binding>gg> bouquet formation protein 2

Predicted to be involved in homolog>gg>ous chromosome pairing>gg> at meiosis and meiotic attachment of telomere to nuclear envelope. Predicted to act upstream of or within meiosis I; oog>gg>enesis; and spermatog>gg>enesis. Predicted to be located in chromosome, telomeric reg>gg>ion. Predicted to be active in nuclear inner membrane. Implicated in spermatog>gg>enic failure 59. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF723 Gene

zinc fing>gg>er protein 723

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CFAP107 Gene

cilia and flag>gg>ella associated protein 107

Predicted to be involved in flag>gg>ellated sperm motility. Located in axonemal microtubule. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MAJIN Gene

membrane anchored junction protein

Predicted to enable DNA binding>gg> activity. Predicted to be involved in homolog>gg>ous chromosome pairing>gg> at meiosis and meiotic attachment of telomere to nuclear envelope. Predicted to act upstream of or within double-strand break repair involved in meiotic recombination; oog>gg>enesis; and spermatog>gg>enesis. Predicted to be located in chromosome, telomeric reg>gg>ion. Predicted to be active in nuclear inner membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM225B Gene

transmembrane protein 225B

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CFAP299 Gene

cilia and flag>gg>ella associated protein 299

Predicted to be located in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CFAP276 Gene

cilia and flag>gg>ella associated protein 276

Predicted to be involved in flag>gg>ellated sperm motility. Located in axonemal microtubule. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CFAP92 Gene

cilia and flag>gg>ella associated protein 92 (putative)

HOATZ Gene

HOATZ cilia and flag>gg>ella associated protein

Predicted to be involved in axoneme assembly; flag>gg>ellated sperm motility; and spermatog>gg>enesis. Predicted to be located in cilium and cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

EZHIP Gene

EZH inhibitory protein

Enables histone methyltransferase inhibitor activity. Involved in epig>gg>enetic reg>gg>ulation of g>gg>ene expression. Located in cytosol and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NPIPB2 Gene

nuclear pore complex interacting>gg> protein family member B2

Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM272 Gene

transmembrane protein 272

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CFAP73 Gene

cilia and flag>gg>ella associated protein 73

Predicted to enable dynein complex binding>gg> activity. Predicted to be involved in cilium movement; inner dynein arm assembly; and spermatid development. Predicted to be located in axonemal doublet microtubule and motile cilium. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM269 Gene

transmembrane protein 269

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CFAP90 Gene

cilia and flag>gg>ella associated protein 90

Predicted to be involved in flag>gg>ellated sperm motility. Located in axoneme and ciliary basal body. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CFAP95 Gene

cilia and flag>gg>ella associated protein 95

Predicted to be involved in flag>gg>ellated sperm motility. Located in axonemal microtubule and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM31 Gene

small integ>gg>ral membrane protein 31

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

IFTAP Gene

intraflag>gg>ellar transport associated protein

This g>gg>ene encodes a protein that was identified as a cellular interacting>gg> partner of non-structural protein 10 of the severe acute respiratory syndrome coronavirus (SARS-CoV). The encoded protein may function as a neg>gg>ative reg>gg>ulator of transcription. There is a pseudog>gg>ene for this g>gg>ene on chromosome 1. Alternative splicing>gg> results in multiple transcript variants. [provided by RefSeq, Mar 2013]

FYB2 Gene

FYN binding>gg> protein 2

Involved in T cell g>receptorg> sig>gg>naling>gg> pathway and cell adhesion mediated by integ>gg>rin. Located in immunolog>gg>ical synapse and membrane raft. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM35 Gene

small integ>gg>ral membrane protein 35

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CENPVL1 Gene

centromere protein V like 1

Predicted to enable carbon-sulfur lyase activity and metal ion binding>gg> activity. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CENPVL2 Gene

centromere protein V like 2

Predicted to enable carbon-sulfur lyase activity and metal ion binding>gg> activity. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM43 Gene

small integ>gg>ral membrane protein 43

Enables transmembrane transporter binding>gg> activity. Predicted to be involved in mesendoderm development. Predicted to be located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM238L Gene

transmembrane protein 238 like

Involved in intrinsic apoptotic sig>gg>naling>gg> pathway in response to endoplasmic reticulum stress. Located in endoplasmic reticulum membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RPSA2 Gene

ribosomal protein SA 2

Predicted to enable laminin binding>gg> activity and laminin g>receptorg> activity. Predicted to be a structural constituent of ribosome. Predicted to be involved in cell adhesion; ribosomal small subunit assembly; and translation. Predicted to be located in several cellular components, including>gg> nucleus; plasma membrane; and ribosome. Predicted to be part of cytosolic small ribosomal subunit. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>REP1 Gene

g>gg>lycine rich extracellular protein 1

g>Gg>Ng>Gg>5B Gene

g>Gg> protein subunit g>gg>amma 5B

Predicted to enable g>Gg>-protein beta-subunit binding>gg> activity. Predicted to be involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway. Predicted to be located in plasma membrane. Predicted to be part of heterotrimeric g>Gg>-protein complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

STMP1 Gene

short transmembrane mitochondrial protein 1

Involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrion. Is active in mitochondrial inner membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM45 Gene

small integ>gg>ral membrane protein 45

Involved in neuron maturation. Located in cytoplasm and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM30 Gene

small integ>gg>ral membrane protein 30

Involved in neg>gg>ative reg>gg>ulation of type I interferon-mediated sig>gg>naling>gg> pathway. Located in endoplasmic reticulum membrane and mitochondrial membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF875 Gene

zinc fing>gg>er protein 875

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NPIPB13 Gene

nuclear pore complex interacting>gg> protein family, member B13

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NPIPB12 Gene

nuclear pore complex interacting>gg> protein family member B12

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

BNIP3P30 Gene

BCL2 interacting>gg> protein 3 pseudog>gg>ene 30

LINC01833 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1833

Predicted to be involved in reg>gg>ulation of g>gg>ene expression. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC01806 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1806

LINC01788 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1788

LINC01843 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1843

LINC03040 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 3040

FAM153CP Gene

protein FAM153C

LINC01719 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1719

LINC01772 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1772

LINC02035 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2035

BNIP3P11 Gene

BCL2 interacting>gg> protein 3 pseudog>gg>ene 11

NAP1L6P Gene

nucleosome assembly protein 1 like 6, pseudog>gg>ene

Predicted to be involved in nucleosome assembly. Predicted to be located in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC01781 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1781

LINC02044 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2044

LINC01852 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1852

LINC01914 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1914

LINC02102 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2102

LINC01933 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1933

LINC02904 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2904

LINC02910 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2910

LINC01814 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1814

LINC02908 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2908

LINC01829 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1829

LINC00680 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 680

LINC02019 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2019

LINC02094 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2094

LINC02147 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2147

LINC02012 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2012

LINC01896 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1896

LINC02185 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2185

LINC01828 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1828

LINC01619 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1619

LINC01679 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1679

PRECSIT Gene

p53 reg>gg>ulated carcinoma associated Stat3 activating>gg> long>gg> interg>gg>enic non-protein coding>gg> transcript

LINC02208 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2208

LINC02210 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2210

LINC03011 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 3011

LINC01702 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1702

LINC02037 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2037

LINC02197 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2197

LINC01595 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1595

Implicated in prostate cancer. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC02898 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2898

LINC02716 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2716

LINC02116 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2116

LINC01713 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1713

LINC02174 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2174

LINC02052 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2052

FAM169BP Gene

protein FAM169B

LINC00449 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 449

ZNF812P Gene

zinc fing>gg>er protein 812, pseudog>gg>ene

LINC02084 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2084

ZNF807P Gene

zinc fing>gg>er protein 807, pseudog>gg>ene

LINC01980 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1980

SNAP23P1 Gene

synaptosome associated protein 23 pseudog>gg>ene 1

LINC01876 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1876

LINC02167 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2167

LINC02212 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2212

LINC02145 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2145

LINC02905 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2905

LINC02693 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2693

LINC01978 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1978

LINC01979 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1979

LINC02015 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2015

LINC01625 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1625

LINC02202 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2202

LINC01786 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1786

LINC01714 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1714

LINC02028 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2028

LINC01836 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1836

LINC01977 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1977

LINC01907 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1907

LINC01748 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1748

LINC01754 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1754

LINC01770 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1770

LINC02086 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2086

LINC02193 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2193

LINC01819 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1819

LINC02018 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2018

LINC01869 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1869

LINC02106 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2106

LINC02076 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2076

LINC02021 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2021

LINC01915 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1915

LINC01881 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1881

LINC01801 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1801

LINC01750 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1750

LINC02175 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2175

LINC02188 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2188

LINC02913 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2913

LINC02897 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2897

LINC02875 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2875

LINC01238 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1238

NPIPB14P Gene

nuclear pore complex interacting>gg> protein family member B14, pseudog>gg>ene

LINC01943 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1943

LINC02881 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2881

LINC01345 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1345

LINC02692 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2692

LINC02107 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2107

LINC01874 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1874

LINC01707 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1707

LINC01697 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1697

LINC01684 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1684

LINC01816 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1816

LINC01626 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1626

LINC01623 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1623

LINC01612 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1612

LINC01643 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1643

LINC01647 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1647

LINC01655 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1655

LINC01667 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1667

LINC01749 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1749

LINC01747 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1747

LINC01744 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1744

LINC01743 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1743

LINC01739 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1739

LINC01728 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1728

LINC01723 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1723

LINC01718 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1718

LINC01712 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1712

LINC01704 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1704

LINC01677 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1677

LINC01676 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1676

LINC01673 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1673

LINC01672 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1672

LINC01374 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1374

LINC01297 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1297

LINC01755 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1755

LINC01760 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1760

LINC01763 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1763

LINC01764 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1764

LINC02046 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2046

LINC02045 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2045

LINC02040 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2040

LINC02039 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2039

LINC02034 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2034

LINC02032 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2032

LINC02025 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2025

LINC02022 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2022

LINC02020 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2020

LINC02013 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2013

LINC01999 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1999

LINC01995 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1995

LINC01988 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1988

LINC01986 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1986

LINC02056 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2056

LINC02064 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2064

LINC02166 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2166

LINC02165 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2165

LINC02156 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2156

LINC02152 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2152

LINC02117 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2117

LINC02114 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2114

LINC02113 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2113

LINC02110 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2110

LINC02103 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2103

LINC02096 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2096

LINC02089 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2089

LINC02087 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2087

LINC02079 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2079

LINC02072 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2072

LINC02069 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2069

LINC02059 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2059

LINC01976 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1976

LINC01944 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1944

LINC01855 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1855

LINC01851 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1851

LINC01849 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1849

LINC01846 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1846

LINC01844 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1844

LINC01837 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1837

LINC01818 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1818

LINC01815 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1815

LINC01803 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1803

LINC01799 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1799

LINC01783 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1783

Predicted to enable triplet codon-amino acid adaptor activity. Predicted to be involved in translation. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC01778 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1778

LINC01766 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1766

LINC01872 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1872

LINC01962 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1962

LINC01878 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1878

LINC01888 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1888

LINC01938 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1938

LINC01937 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1937

LINC01931 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1931

LINC01927 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1927

LINC01925 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1925

LINC01923 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1923

LINC01919 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1919

LINC01917 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1917

LINC01913 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1913

LINC01912 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1912

LINC01911 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1911

LINC01909 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1909

LINC01905 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1905

LINC01899 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1899

LINC01890 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1890

LINC01884 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1884

LINC00390 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 390

LINC01052 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1052

LINC01066 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1066

LINC02016 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2016

LINC01694 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1694

LINC02587 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2587

LINC02204 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2204

LINC01785 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1785

LINC02207 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2207

LINC02446 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2446

LINC01857 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1857

LINC01871 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1871

LINC01762 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1762

LINC02027 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2027

LINC01924 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1924

LINC01934 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1934

LINC02251 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2251

LINC02397 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2397

LINC01967 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1967

LINC01357 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1357

LINC02593 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2593

LINC02362 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2362

LINC02523 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2523

LINC01717 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1717

LINC02009 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2009

LINC01724 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1724

LINC02437 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2437

LINC01965 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1965

LINC02836 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2836

LINC02785 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2785

LINC01831 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1831

LINC02053 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2053

LINC02768 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2768

LINC02360 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2360

LINC02237 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2237

LINC02511 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2511

LINC01695 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1695

LINC02901 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2901

LINC02888 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2888

LINC02903 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2903

LINC02899 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2899

C3ORF86P Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 694

LINC02694 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2694

LINC02902 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2902

LOC124905410 Gene

double homeobox protein 4

LOC124905411 Gene

double homeobox protein 4

LOC124905409 Gene

double homeobox protein 4

LOC124905408 Gene

double homeobox protein 4

LOC122455342 Gene

testis-specific serine/proline-rich protein

OOSP4B Gene

oocyte secreted protein family member 4B

Predicted to be located in extracellular reg>gg>ion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

OOSP4A Gene

oocyte secreted protein family member 4A

Predicted to be located in extracellular reg>gg>ion. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC02798 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2798

NPIPA6 Gene

nuclear pore complex interacting>gg> protein family, member A6

SMIM44 Gene

small integ>gg>ral membrane protein 44

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CIMAP1B Gene

ciliary microtubule associated protein 1B

Predicted to be located in motile cilium. Predicted to be active in cytoskeleton. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ADISSP Gene

adipose secreted sig>gg>naling>gg> protein

Enables protein phosphatase 1 binding>gg> activity. Involved in positive reg>gg>ulation of non-canonical NF-kappaB sig>gg>nal transduction and positive reg>gg>ulation of transforming>gg> g>gg>rowth factor beta g>receptorg> sig>gg>naling>gg> pathway. Predicted to be located in extracellular space. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC124904660 Gene

putative zinc fing>gg>er protein 826

PRRT1B Gene

proline rich transmembrane protein 1B

Predicted to be active in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SPMIP3 Gene

sperm microtubule inner protein 3

CIMAP3 Gene

ciliary microtubule associated protein 3

Enables cytoskeletal protein binding>gg> activity and enzyme binding>gg> activity. Involved in positive reg>gg>ulation of kinase activity. Predicted to be located in ciliary basal body and trans-g>Gg>olg>gg>i network. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CIMIP3 Gene

ciliary microtubule inner protein 3

Predicted to enable calcium ion binding>gg> activity. Predicted to be involved in visual perception. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM217B Gene

transmembrane protein 217B

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

NHERF4 Gene

NHERF family PDZ scaffold protein 4

g>Gg>uanylyl cyclase C (g>Gg>CC, or g>Gg>UCY2C; MIM 601330) produces cg>Gg>MP following>gg> the binding>gg> of either endog>gg>enous lig>gg>ands or heat-stable enterotoxins secreted by E. coli and other enteric bacteria. Activation of g>Gg>CC initiates a sig>gg>naling>gg> cascade that leads to phosphorylation of the cystic fibrosis transmembrane conductance reg>gg>ulator (CFTR; MIM 602421), followed by a net efflux of ions and water into the intestinal lumen. IKEPP is a reg>gg>ulatory protein that associates with g>Gg>CC and reg>gg>ulates the amount of cg>Gg>MP produced following>gg> g>receptorg> stimulation (Scott et al., 2002 [PubMed 11950846]).[supplied by OMIM, Mar 2008]

CFAP96 Gene

cilia and flag>gg>ella associated protein 96

Located in 9+0 non-motile cilium; centrosome; and cytoplasmic microtubule. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MTNAP1 Gene

mitochondrial nucleoid associated protein 1

Predicted to be involved in cell population proliferation; mitochondrial DNA metabolic process; and positive reg>gg>ulation of mitochondrial DNA replication. Located in mitochondrial nucleoid. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC02615 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2615

LINC02696 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2696

LINC02614 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2614

LINC02609 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2609

LINC02981 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2981

LINC02731 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2731

SPMIP8 Gene

sperm microtubule inner protein 8

Predicted to be involved in flag>gg>ellated sperm motility. Predicted to be located in cytoplasm; cytoskeleton; and motile cilium. Predicted to be active in axonemal A tubule inner sheath and sperm flag>gg>ellum. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CEP15 Gene

centrosomal protein 15

Predicted to be located in cilium. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC02987 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2987

LINC02544 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2544

LINC02649 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2649

LINC02728 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2728

LINC02803 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2803

LOC107985433 Gene

putative uncharacterized protein LOC401522

LINC02349 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2349

LINC02539 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2539

LINC03002 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 3002

LINC02381 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2381

CIMAP1C Gene

ciliary microtubule associated protein 1C

Predicted to be active in cytoskeleton. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LINC02232 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2232

LINC03100 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 3100

LINC02894 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2894

LINC02328 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2328

LINC01779 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 1779

LINC03135 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 3135

LINC02965 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2965

LINC03052 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 3052

LINC02235 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2235

LINC02576 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2576

LINC02560 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2560

LINC02762 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2762

LINC02610 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2610

LINC02854 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2854

LINC02983 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2983

LINC02268 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2268

LINC02893 Gene

long>gg> interg>gg>enic non-protein coding>gg> RNA 2893

WASH8P Gene

WAS protein family homolog>gg> 8, pseudog>gg>ene

RNF228 Gene

ring>gg> fing>gg>er protein 228

Predicted to enable ubiquitin protein lig>gg>ase activity. Predicted to be involved in protein ubiquitination. Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SPRR5 Gene

small proline rich protein 5

SMIM42 Gene

small integ>gg>ral membrane protein 42

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TAF11L5 Gene

TATA-box binding>gg> protein associated factor 11 like 5

Predicted to enable protein heterodimerization activity. Predicted to contribute to RNA polymerase II g>gg>eneral transcription initiation factor activity. Predicted to be involved in RNA polymerase II preinitiation complex assembly. Predicted to be located in nucleus. Predicted to be part of transcription factor TFIID complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TAF11L7 Gene

TATA-box binding>gg> protein associated factor 11 like 7

Predicted to enable protein heterodimerization activity. Predicted to contribute to RNA polymerase II g>gg>eneral transcription initiation factor activity. Predicted to be involved in RNA polymerase II preinitiation complex assembly. Predicted to be located in nucleus. Predicted to be part of transcription factor TFIID complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TAF11L10 Gene

TATA-box binding>gg> protein associated factor 11 like 10

Predicted to enable protein heterodimerization activity. Predicted to contribute to RNA polymerase II g>gg>eneral transcription initiation factor activity. Predicted to be involved in RNA polymerase II preinitiation complex assembly. Predicted to be located in nucleus. Predicted to be part of transcription factor TFIID complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

ZNF475 Gene

zinc fing>gg>er protein 475

Predicted to enable metal ion binding>gg> activity. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM47 Gene

small integ>gg>ral membrane protein 47

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SMIM32 Gene

small integ>gg>ral membrane protein 32

Predicted to be located in membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MBD3L2B Gene

methyl-Cpg>Gg> binding>gg> domain protein 3 like 2B

Predicted to enable methyl-Cpg>Gg> binding>gg> activity. Predicted to be involved in DNA methylation-dependent constitutive heterochromatin formation and neg>gg>ative reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

g>Gg>Ng>Gg>14 Gene

g>Gg> protein subunit g>gg>amma 14

Predicted to enable g>Gg>-protein beta-subunit binding>gg> activity. Predicted to be involved in g>Gg> g>protein-coupledg> g>receptorg> sig>gg>naling>gg> pathway. Predicted to be located in plasma membrane. Predicted to be part of heterotrimeric g>Gg>-protein complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CIMIP7 Gene

ciliary microtubule inner protein 7

ZNF892 Gene

zinc fing>gg>er protein 892

Predicted to enable DNA-binding>gg> transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-reg>gg>ulatory reg>gg>ion sequence-specific DNA binding>gg> activity. Predicted to be involved in reg>gg>ulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MRFAP1L2 Gene

Morf4 family associated protein 1 like 2

Involved in reg>gg>ulation of cell cycle. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

KPLCE Gene

KPRP N-terminal and LCE C-terminal like protein

Predicted to be involved in epidermis development. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CPAP Gene

centrosome assembly and centriole elong>gg>ation protein

This g>gg>ene encodes a protein that belong>gg>s to the centromere protein family. During>gg> cell division, this protein plays a structural role in the maintenance of centrosome integ>gg>rity and normal spindle morpholog>gg>y, and it is involved in microtubule disassembly at the centrosome. This protein can function as a transcriptional coactivator in the Stat5 sig>gg>naling>gg> pathway, and also as a coactivator of NF-kappaB-mediated transcription, likely via its interaction with the coactivator p300/CREB-binding>gg> protein. Mutations in this g>gg>ene are associated with primary autosomal recessive microcephaly, a disorder characterized by severely reduced brain size and cog>gg>nitive disability. Alternatively spliced transcript variants have been found for this g>gg>ene. [provided by RefSeq, Apr 2012]

EPCIP Gene

exosomal polycystin 1 interacting>gg> protein

Enables identical protein binding>gg> activity. Involved in mitocytosis. Located in extracellular exosome and mig>gg>rasome. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SPMAP2 Gene

sperm microtubule associated protein 2

This g>gg>ene is specifically expressed in the nucleus of haploid male g>gg>erm cells. The ortholog>gg>ous g>gg>ene in mice encodes a protein that may play a role in protein assembly throug>gg>h interactions with T-complex protein 1 subunit epsilon. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Nov 2011]

TAF11L8 Gene

TATA-box binding>gg> protein associated factor 11 like 8

Predicted to enable protein heterodimerization activity. Predicted to contribute to RNA polymerase II g>gg>eneral transcription initiation factor activity. Predicted to be involved in RNA polymerase II preinitiation complex assembly. Predicted to be located in nucleus. Predicted to be part of transcription factor TFIID complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TAF11L2 Gene

TATA-box binding>gg> protein associated factor 11 like 2

Predicted to enable protein heterodimerization activity. Predicted to contribute to RNA polymerase II g>gg>eneral transcription initiation factor activity. Predicted to be involved in RNA polymerase II preinitiation complex assembly. Predicted to be located in nucleus. Predicted to be part of transcription factor TFIID complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TMEM278 Gene

transmembrane protein 278

Predicted to be involved in neg>gg>ative reg>gg>ulation of canonical Wnt sig>gg>naling>gg> pathway. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TAF11L6 Gene

TATA-box binding>gg> protein associated factor 11 like 6

Predicted to enable protein heterodimerization activity. Predicted to contribute to RNA polymerase II g>gg>eneral transcription initiation factor activity. Predicted to be involved in RNA polymerase II preinitiation complex assembly. Predicted to be located in nucleus. Predicted to be part of transcription factor TFIID complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TAF11L3 Gene

TATA-box binding>gg> protein associated factor 11 like 3

Predicted to enable protein heterodimerization activity. Predicted to contribute to RNA polymerase II g>gg>eneral transcription initiation factor activity. Predicted to be involved in RNA polymerase II preinitiation complex assembly. Predicted to be located in nucleus. Predicted to be part of transcription factor TFIID complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC124905412 Gene

double homeobox protein 4-like

TAF11L4 Gene

TATA-box binding>gg> protein associated factor 11 like 4

Predicted to enable protein heterodimerization activity. Predicted to contribute to RNA polymerase II g>gg>eneral transcription initiation factor activity. Predicted to be involved in RNA polymerase II preinitiation complex assembly. Predicted to be located in nucleus. Predicted to be part of transcription factor TFIID complex. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CIMIP2C Gene

ciliary microtubule inner protein 2C

Predicted to be involved in flag>gg>ellated sperm motility. Located in axonemal microtubule. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CFAP144 Gene

cilia and flag>gg>ella associated protein 144

Enables microtubule binding>gg> activity. Predicted to be involved in flag>gg>ellated sperm motility. Located in axonemal microtubule. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CIMIP4 Gene

ciliary microtubule inner protein 4

Predicted to be located in sperm flag>gg>ellum. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CIMIP2A Gene

ciliary microtubule inner protein 2A

Predicted to be involved in flag>gg>ellated sperm motility. Located in ciliary basal body. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SPMIP6 Gene

sperm microtubule inner protein 6

This g>gg>ene encodes a nuclear- or perinuclear-localized protein with no predicted domains or similarity to other known proteins. Expression of this g>gg>ene is induced during>gg> the differentiation of bronchial epithelial cells, and the encoded protein may play a role in ciliog>gg>enesis. Alternatively spliced transcript variants encoding>gg> multiple isoforms have been observed for this g>gg>ene. [provided by RefSeq, Nov 2011]

CIMIP1 Gene

ciliary microtubule inner protein 1

Located in cilium. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CIMAP1A Gene

ciliary microtubule associated protein 1A

ODF3 is a component of sperm flag>gg>ella outer dense fibers, which add stiffness, elastic recoil, and protection ag>gg>ainst shearing>gg> forces during>gg> sperm movement.[supplied by OMIM, Apr 2004]

LOC112267897 Gene

keratin-associated protein 21-1-like

SPMIP2 Gene

sperm microtubule inner protein 2

SPMIP9 Gene

sperm microtubule inner protein 9

Predicted to be involved in flag>gg>ellated sperm motility. Located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SPMIP7 Gene

sperm microtubule inner protein 7

Predicted to be involved in spermatog>gg>enesis. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CIROZ Gene

ciliated left-rig>gg>ht org>gg>anizer protein containing>gg> ZP-N domains

Predicted to act upstream of or within determination of left/rig>gg>ht symmetry and heart development. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SPMIP5 Gene

sperm microtubule inner protein 5

Predicted to be involved in flag>gg>ellated sperm motility. Predicted to be located in several cellular components, including>gg> cytoskeleton; motile cilium; and nucleus. Predicted to be active in axonemal A tubule inner sheath and sperm flag>gg>ellum. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CIMAP2 Gene

ciliary microtubule associated protein 2

SPMIP10 Gene

sperm microtubule inner protein 10

Predicted to be involved in flag>gg>ellated sperm motility. Predicted to be located in cytoplasm; cytoskeleton; and motile cilium. Predicted to be active in axonemal B tubule inner sheath and sperm flag>gg>ellum. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SPMIP1 Gene

sperm microtubule inner protein 1

SPMIP11 Gene

sperm microtubule inner protein 11

Predicted to be involved in flag>gg>ellated sperm motility. Predicted to be located in cytoplasm; cytoskeleton; and sperm flag>gg>ellum. Predicted to be active in axonemal A tubule inner sheath. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

CIMIP2B Gene

ciliary microtubule inner protein 2B

Predicted to be involved in flag>gg>ellated sperm motility. Located in axonemal microtubule. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC107983987 Gene

small integ>gg>ral membrane protein 34B

SPMAP2L Gene

sperm microtubule associated protein 2 like

CSNK2A2IP Gene

casein kinase 2 subunit alpha' interacting>gg> protein

Predicted to be located in male g>gg>erm cell nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LTAP1 Gene

lipid transport auxiliary protein 1

SPMIP4 Gene

sperm microtubule inner protein 4

SPMAP1 Gene

sperm microtubule associated protein 1

SMIM39 Gene

small integ>gg>ral membrane protein 39

AKAP19 Gene

A-kinase anchoring>gg> protein 19

LRTM3 Gene

leucine rich repeat transmembrane protein 3

POFUT3 Gene

protein O-fucosyltransferase 3

POFUT4 Gene

protein O-fucosyltransferase 4

TYW2 Gene

tRNA wybutosine-synthesizing>gg> protein 2

SMIM10L3 Gene

small integ>gg>ral membrane protein 10 like 3

SMIM46 Gene

small integ>gg>ral membrane protein 46

LOC124908102 Gene

WAS protein family homolog>gg> 2-like

LOC124907090 Gene

ankyrin repeat domain-containing>gg> protein SOWAHC-like

LOC124907782 Gene

dual specificity protein phosphatase 22

LOC128966597 Gene

MAL-like protein

LOC128966610 Gene

UDP-g>Gg>lcNAc:betag>Gg>al beta-1,3-N-acetylg>gg>lucosaminyltransferase-like protein 1

LOC128966622 Gene

putative protein N-methyltransferase FAM86B2

NUCLEOLIN Gene

nucleolin multifunctional protein

Nucleolin (NCL), a eukaryotic nucleolar phosphoprotein, is involved in the synthesis and maturation of ribosomes. It is located mainly in dense fibrillar reg>gg>ions of the nucleolus. Human NCL g>gg>ene consists of 14 exons with 13 introns and spans approximately 11kb. The intron 11 of the NCL g>gg>ene encodes a small nucleolar RNA, termed U20. [provided by RefSeq, Jul 2008]

PRMT2IP Gene

PRMT2 interacting>gg> protein

Located in cytosol. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SACK1D Gene

scaffolding>gg> CK1 anchoring>gg> protein D

Enables kinesin binding>gg> activity; microtubule binding>gg> activity; and protein kinase binding>gg> activity. Involved in several processes, including>gg> positive reg>gg>ulation of cell cycle g>Gg>1/S phase transition; protein localization to mitotic spindle; and reg>gg>ulation of intracellular sig>gg>nal transduction. Located in cytosol; intercellular bridg>gg>e; and mitotic spindle pole. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TIPE1 Gene

TNF alpha induced protein 8 like 1

Enables identical protein binding>gg> activity. Predicted to be involved in neg>gg>ative reg>gg>ulation of TOR sig>gg>naling>gg>. Predicted to be active in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TIPE3 Gene

TNF alpha induced protein 8 like 3

Predicted to enable phosphatidylinositol binding>gg> activity and phosphatidylinositol transfer activity. Predicted to be involved in 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate metabolic process; phospholipid transport; and positive reg>gg>ulation of ERK1 and ERK2 cascade. Located in cytosol and nucleoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

TIPE2 Gene

TNF alpha induced protein 8 like 2

Predicted to be involved in neg>gg>ative reg>gg>ulation of T cell activation and neg>gg>ative reg>gg>ulation of inflammatory response. Predicted to be located in lysosome and nucleus. Predicted to be active in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SACK1F Gene

scaffolding>gg> CK1 anchoring>gg> protein F

Predicted to enable protein kinase binding>gg> activity. Predicted to be involved in sig>gg>nal transduction. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SACK1B Gene

scaffolding>gg> CK1 anchoring>gg> protein B

Enables epidermal g>gg>rowth factor g>receptorg> binding>gg> activity; phosphatidylinositol 3-kinase binding>gg> activity; and protein kinase binding>gg> activity. Involved in cell population proliferation and positive reg>gg>ulation of epidermal g>gg>rowth factor g>receptorg> sig>gg>naling>gg> pathway. Located in cytoplasm and membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

MNMIP1 Gene

manchette microtubule inner protein 1

Predicted to be involved in actin filament org>gg>anization and cell mig>gg>ration. Located in nucleoplasm and plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SACK1C Gene

scaffolding>gg> CK1 anchoring>gg> protein C

This g>gg>ene encodes a member of the family with sequence similarity 83 protein family. The encoded protein may be involved in reg>gg>ulating>gg> MAPK sig>gg>naling>gg> in cancer cells. [provided by RefSeq, Mar 2017]

SACK1A Gene

scaffolding>gg> CK1 anchoring>gg> protein A

Enables identical protein binding>gg> activity; phosphatidylinositol 3-kinase reg>gg>ulatory subunit binding>gg> activity; and protein kinase binding>gg> activity. Involved in cell population proliferation and epidermal g>gg>rowth factor g>receptorg> sig>gg>naling>gg> pathway. Predicted to be located in cytoplasm. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

RUMY1 Gene

reg>gg>ulator of UNg>Gg>2 and MKLN1 interacting>gg> yippee protein 1

Predicted to act upstream of or within positive reg>gg>ulation of apoptotic process. Located in cytosol and intracellular membrane-bounded org>gg>anelle. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

HDIP1 Gene

HDAC and MIER1 interacting>gg> protein 1

SACK1g>Gg> Gene

scaffolding>gg> CK1 anchoring>gg> protein g>Gg>

Predicted to enable protein kinase binding>gg> activity. Involved in BMP sig>gg>naling>gg> pathway. Located in cytosol and nucleus. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

FIMP1 Gene

fertilization-influencing>gg> membrane protein 1

Predicted to be involved in fusion of sperm to eg>gg>g>gg> plasma membrane involved in sing>gg>le fertilization. Predicted to be located in plasma membrane. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

SACK1H Gene

scaffolding>gg> CK1 anchoring>gg> protein H

The protein encoded by this g>gg>ene plays an important role in the structural development and calcification of tooth enamel. Defects in this g>gg>ene are a cause of amelog>gg>enesis imperfecta type 3 (AI3). [provided by RefSeq, Mar 2010]

SACK1E Gene

scaffolding>gg> CK1 anchoring>gg> protein E

Enables protein kinase binding>gg> activity. Predicted to be involved in sig>gg>nal transduction. [provided by Alliance of g>Gg>enome Resources, Mar 2025]

LOC107985567 Gene

protein LLP homolog>gg>

LOC124901069 Gene

short transmembrane mitochondrial protein 1-like

LOC124903767 Gene

putative uncharacterized protein Mg>Gg>C34800