Harmonizome 3.0

signal peptide peptidase like 3

Enables aspartic endopeptidase activity, intramembrane cleaving and protein homodimerization activity. Involved in T cell receptor signaling pathway; membrane protein proteolysis; and positive regulation of calcineurin-NFAT signaling cascade. Located in Golgi-associated vesicle membrane; endoplasmic reticulum; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

PEST proteolytic signal containing nuclear protein

Involved in proteasome-mediated ubiquitin-dependent protein catabolic process and protein ubiquitination. Located in nuclear body. [provided by Alliance of Genome Resources, Mar 2025]

signal-induced proliferation-associated 1 like 1

Predicted to enable GTPase activator activity; actin filament binding activity; and protein kinase binding activity. Predicted to be involved in several processes, including activation of GTPase activity; ephrin receptor signaling pathway; and regulation of postsynapse organization. Located in actin cytoskeleton and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

signal-induced proliferation-associated 1 like 2

This gene encodes a member of the signal-induced proliferation-associated 1 like family. Members of this family contain a GTPase activating domain, a PDZ domain and a C-terminal coiled-coil domain with a leucine zipper. A similar protein in rat acts as a GTPases for the small GTPase Rap. [provided by RefSeq, Sep 2015]

recombination signal binding protein for immunoglobulin kappa J region-like

This gene 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 receptor signaling pathway transcription factor recombining binding protein J. The mouse protein has been shown to activate transcription in concert with Epstein-Barr virus nuclear antigen-2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

signal sequence receptor, gamma (translocon-associated protein gamma) pseudogene

signal-induced proliferation-associated 1

The product of this gene is a mitogen induced GTPase activating protein (GAP). It exhibits a specific GAP activity for Ras-related regulatory proteins Rap1 and Rap2, but not for Ran or other small GTPases. This protein may also hamper mitogen-induced cell cycle progression when abnormally or prematurely expressed. It is localized to the perinuclear region. Two alternatively spliced variants encoding the same isoform have been characterized to date. [provided by RefSeq, Jul 2008]

signal-regulatory protein alpha pseudogene 1

brain abundant, membrane attached signal protein 1

This gene encodes a membrane bound protein with several transient phosphorylation sites and PEST motifs. Conservation of proteins with PEST sequences among different species supports their functional significance. PEST sequences typically occur in proteins with high turnover rates. Immunological characteristics of this protein are species specific. This protein also undergoes N-terminal myristoylation. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2012]

signal peptide, CUB domain, EGF-like 2

Predicted to enable calcium ion binding activity; hedgehog family protein binding activity; and lipid binding activity. Predicted to be involved in signal transduction. Predicted to act upstream of or within several processes, including chondrocyte differentiation involved in endochondral bone morphogenesis; positive regulation of chondrocyte proliferation; and positive regulation of osteoblast differentiation. Predicted to be located in extracellular region. Predicted to be active in cell surface and extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

signal peptide, CUB domain, EGF-like 3

This gene encodes a member of the signal peptide, complement subcomponents C1r/C1s, Uegf, bone morphogenetic protein-1 and epidermal growth factor-like domain containing protein family. Overexpression of this gene in human embryonic kidney cells results in secretion of a glycosylated form of the protein that forms oligomers and tethers to the cell surface. This gene is upregulated in lung cancer tumor tissue compared to healthy tissue and is associated with loss of the epithelial marker E-cadherin and with increased expression of vimentin, a mesenchymal marker. In addition, the protein encoded by this gene is a transforming growth factor beta receptor ligand, and when secreted by cancer cells, it can be cleaved in vitro to release the N-terminal epidermal growth factor-like repeat domain and the C-terminal complement subcomponents C1r/C1s domain. Both the full length protein and C-terminal fragment can bind to the transforming growth factor beta type II receptor to promote the epithelial-mesenchymal transition and tumor angiogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

signal peptide, CUB domain, EGF-like 1

This gene encodes a cell surface glycoprotein that is a member of the SCUBE (signal peptide, CUB domain, EGF (epidermal growth factor)-like protein) family. Family members have an amino-terminal signal peptide, nine copies of EGF-like repeats and a CUB domain at the carboxyl terminus. This protein is expressed in platelets and endothelial cells and may play an important role in vascular biology. [provided by RefSeq, Oct 2011]

brain abundant, membrane attached signal protein 1 pseudogene 1

signal-regulatory protein gamma

The protein encoded by this gene is a member of the signal-regulatory protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

signal-regulatory protein delta

Predicted to be located in extracellular region. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

signal-regulatory protein alpha

The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. This protein can be phosphorylated by tyrosine kinases. The phospho-tyrosine residues of this PTP have been shown to recruit SH2 domain containing tyrosine phosphatases (PTP), and serve as substrates of PTPs. This protein was found to participate in signal transduction mediated by various growth factor receptors. CD47 has been demonstrated to be a ligand for this receptor protein. This gene and its product share very high similarity with several other members of the SIRP family. These related genes are located in close proximity to each other on chromosome 20p13. Multiple alternatively spliced transcript variants have been determined for this gene. [provided by RefSeq, Jul 2008]

recombination signal binding protein for immunoglobulin kappa J region pseudogene

signal transducer and activator of transcription 5B

The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein mediates the signal transduction triggered by various cell ligands, such as IL2, IL4, CSF1, and different growth hormones. It has been shown to be involved in diverse biological processes, such as TCR signaling, apoptosis, adult mammary gland development, and sexual dimorphism of liver gene expression. This gene was found to fuse to retinoic acid receptor-alpha (RARA) gene in a small subset of acute promyelocytic leukemias (APLL). The dysregulation of the signaling pathways mediated by this protein may be the cause of the APLL. [provided by RefSeq, Jul 2008]

signal transducer and activator of transcription 5A

The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated by, and mediates the responses of many cell ligands, such as IL2, IL3, IL7 GM-CSF, erythropoietin, thrombopoietin, and different growth hormones. Activation of this protein in myeloma and lymphoma associated with a TEL/JAK2 gene fusion is independent of cell stimulus and has been shown to be essential for tumorigenesis. The mouse counterpart of this gene is found to induce the expression of BCL2L1/BCL-X(L), which suggests the antiapoptotic function of this gene in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]

Dab, reelin signal transducer, homolog 1 (Drosophila)

The laminar organization of multiple neuronal types in the cerebral cortex is required for normal cognitive function. In mice, the disabled-1 gene plays a central role in brain development, directing the migration of cortical neurons past previously formed neurons to reach their proper layer. This gene is similar to disabled-1, and the protein encoded by this gene is thought to be a signal transducer that interacts with protein kinase pathways to regulate neuronal positioning in the developing brain. [provided by RefSeq, Jan 2017]

signal sequence receptor, alpha

The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein encoded by this gene and a 22-kD glycoprotein. This gene generates several mRNA species as a result of complex alternative polyadenylation. This gene is unusual in that it utilizes arrays of polyA signal sequences that are mostly non-canonical. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

signal sequence receptor, beta (translocon-associated protein beta)

The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein (alpha-SSR or SSR1) and a 22-kD glycoprotein (beta-SSR or SSR2). The human beta-signal sequence receptor gene (SSR2) maps to chromosome bands 1q21-q23. [provided by RefSeq, Jul 2008]

signal sequence receptor, gamma (translocon-associated protein gamma)

The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR is comprised of four membrane proteins/subunits: alpha, beta, gamma, and delta. The first two are glycosylated subunits and the latter two are non-glycosylated subunits. This gene encodes the gamma subunit, which is predicted to span the membrane four times. [provided by RefSeq, Aug 2010]

signal sequence receptor, delta

This gene encodes the delta subunit of the translocon-associated protein complex which is involved in translocating proteins across the endoplasmic reticulum membrane. The encoded protein is located in the Xq28 region and is arranged in a compact head-to-head manner with the isocitrate dehydrogenase 3 (NAD+) gamma gene and both genes are driven by a CpG-embedded bidirectional promoter. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2011]

signal recognition particle 54kDa

Enables several functions, including 7S RNA binding activity; endoplasmic reticulum signal peptide binding activity; and guanyl ribonucleotide binding activity. Contributes to GTPase activity. Involved in granulocyte differentiation and protein targeting to ER. Located in cytosol and nucleus. Part of signal recognition particle, endoplasmic reticulum targeting. Implicated in severe congenital neutropenia 8. [provided by Alliance of Genome Resources, Mar 2025]

signal peptide peptidase like 3 pseudogene

signal transducer and activator of transcription 6, interleukin-4 induced

The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein plays a central role in exerting IL4 mediated biological responses. It is found to induce the expression of BCL2L1/BCL-X(L), which is responsible for the anti-apoptotic activity of IL4. Knockout studies in mice suggested the roles of this gene in differentiation of T helper 2 (Th2) cells, expression of cell surface markers, and class switch of immunoglobulins. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

signal-induced proliferation-associated 1 like 3

This gene belongs to the signal induced proliferation associated 1 family of genes, which encode GTPase-activating proteins specific for the GTP-binding protein Rap1. Rap1 has been implicated in regulation of cell adhesion, cell polarity, and organization of the cytoskeleton. Like other members of the family, the protein encoded by this gene contains RapGAP and PDZ domains. In addition, this protein contains a C-terminal leucine zipper domain. This gene is proposed to function in epithelial cell morphogenesis and establishment or maintenance of polarity. Consistently, expression of the protein in cell culture showed localization to cell-cell borders in apical regions, and downregulation of the gene in 3D Caco2 cell culture resulted in abnormal cell polarity and morphogenesis. Allelic variants of this gene have been associated with congenital cataracts in humans. [provided by RefSeq, Feb 2016]

signal recognition particle 19kDa pseudogene

signal recognition particle 72kDa pseudogene 1

signal sequence receptor, delta pseudogene 1

signal recognition particle 19kDa pseudogene

signal sequence receptor, alpha pseudogene 1

signal recognition particle receptor, B subunit

The protein encoded by this gene has similarity to mouse protein which is a subunit of the signal recognition particle receptor (SR). This subunit is a transmembrane GTPase belonging to the GTPase superfamily. It anchors alpha subunit, a peripheral membrane GTPase, to the ER membrane. SR is required for the cotranslational targeting of both secretory and membrane proteins to the ER membrane. [provided by RefSeq, Jul 2008]

signal transducing adaptor family member 2

This gene encodes the substrate of breast tumor kinase, an Src-type non-receptor tyrosine kinase. The encoded protein possesses domains and several tyrosine phosphorylation sites characteristic of adaptor proteins that mediate the interactions linking proteins involved in signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

signal transducing adaptor family member 1

The protein encoded by this gene contains a proline-rich region, a pleckstrin homology (PH) domain, and a region in the carboxy terminal half with similarity to the Src Homology 2 (SH2) domain. This protein is a substrate of tyrosine-protein kinase Tec, and its interaction with tyrosine-protein kinase Tec is phosphorylation-dependent. This protein is thought to participate in a positive feedback loop by upregulating the activity of tyrosine-protein kinase Tec. Variants of this gene have been associated with autosomal-dominant hypercholesterolemia (ADH), which is characterized by elevated low-density lipoprotein cholesterol levels and in increased risk of coronary vascular disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

signal peptidase complex subunit 2 homolog (S. cerevisiae) pseudogene 1

signal peptidase complex subunit 2 homolog (S. cerevisiae) pseudogene 2

signal recognition particle 14kDa (homologous Alu RNA binding protein) pseudogene 1

signal peptide peptidase like 2A

This gene encodes a member of the GXGD family of aspartic proteases, which are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions, as well as a member of the signal peptide peptidase-like protease (SPPL) family. This protein is expressed in all major adult human tissues and localizes to late endosomal compartments and lysosomal membranes. A pseudogene of this gene also lies on chromosome 15. [provided by RefSeq, Feb 2012]

signal peptide peptidase like 2C

Enables protein homodimerization activity. Predicted to be involved in several processes, including acrosome assembly; fusion of sperm to egg plasma membrane involved in single fertilization; and membrane protein intracellular domain proteolysis. Located in cytoplasmic side of endoplasmic reticulum membrane and lumenal side of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Mar 2025]

signal peptide peptidase like 2B

This gene encodes a member of the GXGD family of aspartic proteases. The GXGD proteases are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions. This enzyme localizes to endosomes, lysosomes, and the plasma membrane. It cleaves the transmembrane domain of tumor necrosis factor alpha to release the intracellular domain, which triggers cytokine expression in the innate and adaptive immunity pathways. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

interleukin 6 signal transducer

The protein encoded by this gene is a signal transducer shared by many cytokines, including interleukin 6 (IL6), ciliary neurotrophic factor (CNTF), leukemia inhibitory factor (LIF), and oncostatin M (OSM). This protein functions as a part of the cytokine receptor complex. The activation of this protein is dependent upon the binding of cytokines to their receptors. vIL6, a protein related to IL6 and encoded by the Kaposi sarcoma-associated herpesvirus, can bypass the interleukin 6 receptor (IL6R) and directly activate this protein. Knockout studies in mice suggest that this gene plays a critical role in regulating myocyte apoptosis. Alternatively spliced transcript variants have been described. A related pseudogene has been identified on chromosome 17. [provided by RefSeq, May 2014]

KH domain containing, RNA binding, signal transduction associated 2

Predicted to enable mRNA binding activity and poly(A) binding activity. Predicted to be involved in regulation of alternative mRNA splicing, via spliceosome. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

signal recognition particle 68kDa

This gene encodes a subunit of the signal recognition particle (SRP). The SRP is a ribonucleoprotein complex that transports secreted and membrane proteins to the endoplasmic reticulum for processing. The complex includes a 7S RNA and six protein subunits. The encoded protein is the 68kDa component of the SRP, and forms a heterodimer with the 72kDa subunit that is required for SRP function. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and three pseudogenes of this gene are located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, May 2012]

hematopoietic cell signal transducer

This gene encodes a transmembrane signaling adaptor that contains a YxxM motif in its cytoplasmic domain. The encoded protein may form part of the immune recognition receptor complex with the C-type lectin-like receptor NKG2D. As part of this receptor complex, this protein may activate phosphatidylinositol 3-kinase dependent signaling pathways through its intracytoplasmic YxxM motif. This receptor complex may have a role in cell survival and proliferation by activation of NK and T cell responses. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

activating signal cointegrator 1 complex subunit 3

This gene encodes a protein that belongs to a family of helicases that are involved in the ATP-dependent unwinding of nucleic acid duplexes. The encoded protein is the largest subunit of the activating signal cointegrator 1 complex that is involved in DNA repair and resistance to alkylation damage. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

activating signal cointegrator 1 complex subunit 2

Enables K63-linked polyubiquitin modification-dependent protein binding activity. Involved in regulation of DNA-templated transcription; rescue of stalled ribosome; and ribosome-associated ubiquitin-dependent protein catabolic process. Located in nucleus. Part of DNA repair complex and activating signal cointegrator 1 complex. Is active in cytosolic ribosome. [provided by Alliance of Genome Resources, Mar 2025]

activating signal cointegrator 1 complex subunit 1

This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and serum response factor (SRF). The encoded protein contains an N-terminal KH-type RNA-binding motif which is required for AP-1 transactivation by the ASC-1 complex. Mutations in this gene are associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

signal peptidase complex subunit 2 homolog (S. cerevisiae) pseudogene 4

signal peptidase complex subunit 2 homolog (S. cerevisiae) pseudogene 3

signal-regulatory protein beta 2

Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

signal-regulatory protein beta 1

The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. This protein was found to interact with TYROBP/DAP12, a protein bearing immunoreceptor tyrosine-based activation motifs. This protein was also reported to participate in the recruitment of tyrosine kinase SYK. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]

signal sequence receptor, alpha pseudogene 2

signal recognition particle 14kDa (homologous Alu RNA binding protein)

Enables RNA binding activity. Involved in protein targeting to ER. Located in nucleus. Part of signal recognition particle, endoplasmic reticulum targeting. [provided by Alliance of Genome Resources, Mar 2025]

signal recognition particle 19kDa

Enables 7S RNA binding activity. Contributes to ribosome binding activity. Predicted to be involved in SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition. Located in cytosol; nuclear body; and nucleolus. Part of signal recognition particle, endoplasmic reticulum targeting. [provided by Alliance of Genome Resources, Mar 2025]

signal peptidase complex subunit 3-like

signal peptide peptidase like 2A pseudogene

recombination signal binding protein for immunoglobulin kappa J region

The protein encoded by this gene is a transcriptional regulator important in the Notch signaling pathway. The encoded protein acts as a repressor when not bound to Notch proteins and an activator when bound to Notch proteins. It is thought to function by recruiting chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins to Notch signaling pathway genes. Several transcript variants encoding different isoforms have been found for this gene, and several pseudogenes of this gene exist on chromosome 9. [provided by RefSeq, Oct 2013]

signal recognition particle 68kDa pseudogene 1

signal recognition particle 68kDa pseudogene 2

signal recognition particle 68kDa pseudogene 3

signal transducing adaptor molecule (SH3 domain and ITAM motif) 2

The protein encoded by this gene is closely related to STAM, an adaptor protein involved in the downstream signaling of cytokine receptors, both of which contain a SH3 domain and the immunoreceptor tyrosine-based activation motif (ITAM). Similar to STAM, this protein acts downstream of JAK kinases, and is phosphorylated in response to cytokine stimulation. This protein and STAM thus are thought to exhibit compensatory effects on the signaling pathway downstream of JAK kinases upon cytokine stimulation. [provided by RefSeq, Jul 2008]

KH domain containing, RNA binding, signal transduction associated 1

This gene encodes a member of the K homology domain-containing, RNA-binding, signal transduction-associated protein family. The encoded protein appears to have many functions and may be involved in a variety of cellular processes, including alternative splicing, cell cycle regulation, RNA 3'-end formation, tumorigenesis, and regulation of human immunodeficiency virus gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

KH domain containing, RNA binding, signal transduction associated 3

Enables RNA binding activity; identical protein binding activity; and protein domain specific binding activity. Predicted to be involved in regulation of alternative mRNA splicing, via spliceosome and spermatogenesis. Located in nucleoplasm. Part of protein-containing complex. [provided by Alliance of Genome Resources, Mar 2025]

signal recognition particle 9 pseudogene 1

signal transducing adaptor molecule (SH3 domain and ITAM motif) 1

This gene encodes a member of the signal-transducing adaptor molecule family. These proteins mediate downstream signaling of cytokine receptors and also play a role in ER to Golgi trafficking by interacting with the coat protein II complex. The encoded protein also associates with hepatocyte growth factor-regulated substrate to form the endosomal sorting complex required for transport-0 (ESCRT-0), which sorts ubiquitinated membrane proteins to the ESCRT-1 complex for lysosomal degradation. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]

tumor-associated calcium signal transducer 2

This intronless gene encodes a carcinoma-associated antigen. This antigen is a cell surface receptor that transduces calcium signals. Mutations of this gene have been associated with gelatinous drop-like corneal dystrophy.[provided by RefSeq, Dec 2009]

signal recognition particle 9kDa

Predicted to enable RNA binding activity and signal recognition particle binding activity. Predicted to be involved in SRP-dependent cotranslational protein targeting to membrane. Predicted to be located in cytosol. Predicted to be part of signal recognition particle, endoplasmic reticulum targeting. [provided by Alliance of Genome Resources, Mar 2025]

signal recognition particle receptor (docking protein)

The gene encodes a subunit of the endoplasmic reticulum signal recognition particle receptor that, in conjunction with the signal recognition particle, is involved in the targeting and translocation of signal sequence tagged secretory and membrane proteins across the endoplasmic reticulum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]

signal recognition particle 72kDa pseudogene 2

signal-regulatory protein beta 3, pseudogene

signal recognition particle 72kDa

This gene encodes the 72 kDa subunit of the signal recognition particle (SRP), a ribonucleoprotein complex that mediates the targeting of secretory proteins to the endoplasmic reticulum (ER). The SRP complex consists of a 7S RNA and 6 protein subunits: SRP9, SRP14, SRP19, SRP54, SRP68, and SRP72, that are bound to the 7S RNA as monomers or heterodimers. SRP has at least 3 distinct functions that can be associated with the protein subunits: signal recognition, translational arrest, and ER membrane targeting by interaction with the docking protein. Mutations in this gene are associated with familial bone marrow failure. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]

interleukin 6 signal transducer (gp130, oncostatin M receptor) pseudogene 1

signal peptidase complex subunit 1 homolog (S. cerevisiae)

Predicted to enable ribosome binding activity. Involved in signal peptide processing; viral protein processing; and virion assembly. Located in endoplasmic reticulum membrane. Part of signal peptidase complex. [provided by Alliance of Genome Resources, Mar 2025]

signal peptidase complex subunit 2 homolog (S. cerevisiae)

Predicted to enable peptidase activity. Involved in signal peptide processing. Part of signal peptidase complex. [provided by Alliance of Genome Resources, Mar 2025]

signal peptidase complex subunit 3 homolog (S. cerevisiae)

Involved in signal peptide processing and viral protein processing. Located in endoplasmic reticulum. Part of signal peptidase complex. [provided by Alliance of Genome Resources, Mar 2025]

signal transducer and activator of transcription 4

The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is essential for mediating responses to IL12 in lymphocytes, and regulating the differentiation of T helper cells. Mutations in this gene may be associated with systemic lupus erythematosus and rheumatoid arthritis. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Aug 2011]

signal transducer and activator of transcription 3 (acute-phase response factor)

The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated through phosphorylation in response to various cytokines and growth factors including IFNs, EGF, IL5, IL6, HGF, LIF and BMP2. This protein mediates the expression of a variety of genes in response to cell stimuli, and thus plays a key role in many cellular processes such as cell growth and apoptosis. The small GTPase Rac1 has been shown to bind and regulate the activity of this protein. PIAS3 protein is a specific inhibitor of this protein. This gene also plays a role in regulating host response to viral and bacterial infections. Mutations in this gene are associated with infantile-onset multisystem autoimmune disease and hyper-immunoglobulin E syndrome. [provided by RefSeq, Aug 2020]

signal transducer and activator of transcription 2, 113kDa

The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. In response to interferon (IFN), this protein forms a complex with STAT1 and IFN regulatory factor family protein p48 (ISGF3G), in which this protein acts as a transactivator, but lacks the ability to bind DNA directly. The protein mediates innate antiviral activity. Mutations in this gene result in Immunodeficiency 44. [provided by RefSeq, Aug 2020]

signal transducer and activator of transcription 1, 91kDa

The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. The protein encoded by this gene can be activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. This protein mediates the expression of a variety of genes, which is thought to be important for cell viability in response to different cell stimuli and pathogens. The protein plays an important role in immune responses to viral, fungal and mycobacterial pathogens. Mutations in this gene are associated with Immunodeficiency 31B, 31A, and 31C. [provided by RefSeq, Jun 2020]

UFM1-specific peptidase 1 (non-functional)

This gene encodes a protein that is similar to other Ufm1-specific proteases. Studies in mouse determined that Ufsp1 releases Ufm1 (ubiquitin-fold modifier 1) from its bound conjugated complexes which also makes it into an active form. Because the human UFSP1 protein is shorter on the N-terminus and lacks a conserved Cys active site, it is predicted to be non-functional.[provided by RefSeq, Nov 2009]

long intergenic non-protein coding RNA 1221

Helicobacter pylori responsive 1 (non-protein coding)

long intergenic non-protein coding RNA 1227

polled intersex syndrome regulated transcript 1 (non-protein coding RNA)

protein tyrosine phosphatase, non-receptor type 18 (brain-derived)

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, the mitotic cycle, and oncogenic 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 regulate HER2, a member of the epidermal growth factor receptor family of receptor tyrosine kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]

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

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP is a large intracellular protein. It has a catalytic PTP domain at its C-terminus and two major structural domains: a region 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 receptor and IkappaBalpha through the PDZ domains. This suggests it has a role in Fas mediated programmed cell death. This PTP was also shown to interact with GTPase-activating protein, and thus may function as a regulator of Rho signaling pathways. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Oct 2008]

protein tyrosine phosphatase, non-receptor type 12

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains a C-terminal PEST motif, which serves as a protein-protein interaction domain, and may regulate protein intracellular half-life. This PTP was found to bind and dephosphorylate the product of the oncogene c-ABL and thus may play a role in oncogenesis. 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 suggests it has a regulatory role in controlling cell shape and mobility. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]

protein tyrosine phosphatase, non-receptor type 11

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. [provided by RefSeq, Aug 2016]

protein tyrosine phosphatase, non-receptor type 14

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal noncatalytic domain similar to that of band 4.1 superfamily cytoskeleton-associated proteins, which suggested the membrane or cytoskeleton localization of this protein. It appears to regulate 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]

long intergenic non-protein coding RNA 1091

long intergenic non-protein coding RNA 1090

long intergenic non-protein coding RNA 1093

long intergenic non-protein coding RNA 1095

long intergenic non-protein coding RNA 1094

long intergenic non-protein coding RNA 1097

long intergenic non-protein coding RNA 1096

long intergenic non-protein coding RNA 1098

long intergenic non-protein coding RNA 320

long intergenic non-protein coding RNA 323

long intergenic non-protein coding RNA 324

long intergenic non-protein coding RNA 326

long intergenic non-protein coding RNA 327

long intergenic non-protein coding RNA 328

RAB3 GTPase activating protein subunit 2 (non-catalytic)

The protein encoded by this gene belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and hormones. This protein forms the Rab3 GTPase-activating complex with RAB3GAP1, where it constitutes the regulatory subunit, whereas the latter functions as the catalytic subunit. This gene has the highest level of expression in the brain, consistent with it having a key role in neurodevelopment. Mutations in this gene are associated with Martsolf syndrome.[provided by RefSeq, Oct 2009]

long intergenic non-protein coding RNA 1215

long intergenic non-protein coding RNA 1214

long intergenic non-protein coding RNA 847

long intergenic non-protein coding RNA 849

gastric cancer associated transcript 2 (non-protein coding)

gastric cancer associated transcript 1 (non-protein coding)

long intergenic non-protein coding RNA 1251

long intergenic non-protein coding RNA 1250

long intergenic non-protein coding RNA 1257

FOXC1 upstream transcript (non-protein coding)

CCDC26 long non-coding RNA

Implicated in brain cancer and high grade glioma. [provided by Alliance of Genome Resources, Mar 2025]

prostate cancer associated transcript 1 (non-protein coding)

This gene produces a long non-coding RNA that promotes cell proliferation and is upregulated in prostate, colorectal, and other cancers. This RNA negatively regulates the BRCA2 tumor suppressor protein and positively regulates Myc oncoprotein. It contains binding sites for microRNAs, and may act as a sponge for microRNAs that regulate cell growth pathways. [provided by RefSeq, Dec 2017]

prostate cancer associated transcript 2 (non-protein coding)

prostate cancer associated transcript 4 (non-protein coding)

prostate cancer associated transcript 7 (non-protein coding)

long intergenic non-protein coding RNA 1255

tyrosine-protein phosphatase non-receptor type 20

long intergenic non-protein coding RNA 1491

long intergenic non-protein coding RNA 1490

long intergenic non-protein coding RNA 1198

Biomarker of malignant astrocytoma. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1194

long intergenic non-protein coding RNA 1195

long intergenic non-protein coding RNA 1197

long intergenic non-protein coding RNA 1191

long intergenic non-protein coding RNA 1192

long intergenic non-protein coding RNA 1193

long intergenic non-protein coding RNA 1360

hepatocellular carcinoma up-regulated EZH2-associated long non-coding RNA

Biomarker of esophagus squamous cell carcinoma. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1365

non-SMC condensin I complex, subunit D2 pseudogene 1

long intergenic non-protein coding RNA 1547

Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1546

long intergenic non-protein coding RNA 1545

long intergenic non-protein coding RNA 1549

long intergenic non-protein coding RNA 1548

long intergenic non-protein coding RNA 633

long intergenic non-protein coding RNA 630

long intergenic non-protein coding RNA 636

long intergenic non-protein coding RNA 637

long intergenic non-protein coding RNA 635

long intergenic non-protein coding RNA 638

long intergenic non-protein coding RNA 639

mental retardation, non-syndromic, autosomal recessive, 28

mental retardation, non-syndromic, autosomal recessive, 24

mental retardation, non-syndromic, autosomal recessive, 23

highly accelerated region 1A (non-protein coding)

immunoglobulin heavy variable 1-38-4 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1348

SWI/SNF complex antagonist associated with prostate cancer 1 (non-protein coding)

long intergenic non-protein coding RNA 1550

long intergenic non-protein coding RNA 1551

long intergenic non-protein coding RNA 1552

long intergenic non-protein coding RNA 879

long intergenic non-protein coding RNA 877

long intergenic non-protein coding RNA 870

long intergenic non-protein coding RNA 871

long intergenic non-protein coding RNA 265-3, pseudogene

mental retardation, non-syndromic, autosomal recessive, 10

tyrosine-protein phosphatase non-receptor type 23-like

long intergenic non-protein coding RNA 969

long intergenic non-protein coding RNA 404

long intergenic non-protein coding RNA 400

long intergenic non-protein coding RNA 403

long intergenic non-protein coding RNA 402

long intergenic non-protein coding RNA 408

proteasome (prosome, macropain) 26S subunit, non-ATPase, 14

This gene encodes a component of the 26S proteasome. The 26S proteasome is a large multiprotein complex that catalyzes the degradation of ubiquitinated intracellular proteins. The encoded protein is a component of the 19S regulatory cap complex of the 26S proteasome and mediates substrate deubiquitination. A pseudogene of this gene is also located on the long arm of chromosome 2. [provided by RefSeq, Feb 2012]

proteasome (prosome, macropain) 26S subunit, non-ATPase, 11

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the proteasome subunit S9 family that functions as a non-ATPase subunit of the 19S regulator and is phosphorylated by AMP-activated protein kinase. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]

proteasome (prosome, macropain) 26S subunit, non-ATPase, 10

This gene encodes a subunit of the PA700/19S complex, which is the regulatory component of the 26S proteasome. The 26S proteosome complex is required for ubiquitin-dependent protein degradation. This protein is a non-ATPase subunit that may be involved in protein-protein interactions. Aberrant expression of this gene may paly a role in tumorigenesis. Two transcripts encoding different isoforms have been described. Pseudogenes have been identified on chromosomes 3 and 20.[provided by RefSeq, Mar 2011]

proteasome (prosome, macropain) 26S subunit, non-ATPase, 13

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. Two transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

proteasome (prosome, macropain) 26S subunit, non-ATPase, 12

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

ATXN8 opposite strand (non-protein coding)

This gene is an antisense transcript to the KLHL1 gene (homolog to the Drosophila KELCH gene); it does not itself appear to be protein coding. A TAC/TGC trinucleotide repeat expansion that is incorporated into this gene 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]

long intergenic non-protein coding RNA 1510

This gene encodes a natural antisense transcript highly expressed in papillary thyroid carcinomas harboring BRAF V600E mutation or RET gene rearrangements. This lncRNA induces the downstream MAPK pathway and is part of a co-expression network including different oncogenes belonging to the MAPK and PI3H/AKT pathways. In thyroid carcinomas, this gene has oncogenic properties associated with increased proliferation and drug resistance. [provided by RefSeq, Jan 2020]

long intergenic non-protein coding RNA 1114

long intergenic non-protein coding RNA 1115

long intergenic non-protein coding RNA 1116

long intergenic non-protein coding RNA 1117

long intergenic non-protein coding RNA 1111

long intergenic non-protein coding RNA 1118

long intergenic non-protein coding RNA 1514

long intergenic non-protein coding RNA 244

long intergenic non-protein coding RNA 243

long intergenic non-protein coding RNA 242

long intergenic non-protein coding RNA 240

KCNQ1 downstream neighbor (non-protein coding)

Imprinting is a phenomenon in which epigenetic modifications lead to expression or suppression of alleles of some genes based on their parental origin. Wilms tumor-2 (WT2; MIM 194071) is defined by maternal-specific loss of heterozygosity of a critical region on chromosome 11p15.5 that includes several imprinted genes. KCNQ1DN is an imprinted gene located within the WT2 critical region that is expressed from the maternal allele (Xin et al., 2000 [PubMed 11056398]).[supplied by OMIM, Mar 2008]

T cell receptor beta variable 6-7 (non-functional)

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 939

long intergenic non-protein coding RNA 938

long intergenic non-protein coding RNA 930

long intergenic non-protein coding RNA 933

long intergenic non-protein coding RNA 935

Predicted to be involved in flagellated sperm motility. Predicted to be located in cytoplasm; cytoskeleton; and sperm flagellum. Predicted to be active in axonemal A tubule inner sheath. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 934

long intergenic non-protein coding RNA 937

long intergenic non-protein coding RNA 443

long intergenic non-protein coding RNA 1099

long intergenic non-protein coding RNA 322

long intergenic non-protein coding RNA 1327

long intergenic non-protein coding RNA 1324

long intergenic non-protein coding RNA 1322

long intergenic non-protein coding RNA 1320

immunoglobulin heavy diversity 3/OR15-3B (non-functional)

immunoglobulin heavy diversity 3/OR15-3A (non-functional)

inactivation escape 2 (non-protein coding)

inactivation escape 1 (non-protein coding)

X chromosome inactivation provides dosage compensation for the expression level of X-linked genes from the single X in males and the two in females. This X chromosome gene is intronless and was identified because its transcription escapes X inactivation in females. This gene does not make a protein.[provided by RefSeq, May 2010]

HLA complex group 18 (non-protein coding)

long intergenic non-protein coding RNA 433

long intergenic non-protein coding RNA 1424

long intergenic non-protein coding RNA 1425

long intergenic non-protein coding RNA 1426

long intergenic non-protein coding RNA 1427

long intergenic non-protein coding RNA 1420

Involved in negative regulation of cytoplasmic mRNA processing body assembly and nuclear-transcribed mRNA catabolic process. Located in P-body. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1422

long intergenic non-protein coding RNA 1423

long intergenic non-protein coding RNA 1428

family with sequence similarity 223, member A (non-protein coding)

long intergenic non-protein coding RNA 1280

long intergenic non-protein coding RNA 1281

long intergenic non-protein coding RNA 1282

long intergenic non-protein coding RNA 1284

long intergenic non-protein coding RNA 1285

long intergenic non-protein coding RNA 1287

long intergenic non-protein coding RNA 1288

long intergenic non-protein coding RNA 1289

long intergenic non-protein coding RNA 488

long intergenic non-protein coding RNA 484

long intergenic non-protein coding RNA 487

long intergenic non-protein coding RNA 486

long intergenic non-protein coding RNA 483

long intergenic non-protein coding RNA 482

T cell receptor beta variable 23/OR9-2 (non-functional)

long intergenic non-protein coding RNA 266-4, pseudogene

immunoglobulin lambda variable 5-48 (non-functional)

Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

sodium channel, non voltage gated 1 delta subunit

Enables sodium channel activity. Involved in cellular response to acidic pH; intracellular sodium ion homeostasis; and sodium ion import across plasma membrane. Located in actin cytoskeleton and membrane. Part of sodium channel complex. Is active in apical plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

sodium channel, non voltage gated 1 beta subunit

Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq, Apr 2009]

sodium channel, non voltage gated 1 alpha subunit

Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2009]

long intergenic non-protein coding RNA 1363

family with sequence similarity 225, member A (non-protein coding)

family with sequence similarity 225, member B (non-protein coding)

long intergenic non-protein coding RNA 526

long intergenic non-protein coding RNA 527

long intergenic non-protein coding RNA 524

long intergenic non-protein coding RNA 525

long intergenic non-protein coding RNA 523

long intergenic non-protein coding RNA 520

long intergenic non-protein coding RNA 521

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 528

long intergenic non-protein coding RNA 529

long intergenic non-protein coding RNA 1499

oligodendrocyte maturation-associated long intergenic non-coding RNA

immunoglobulin heavy variable 3-35 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3-38 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 200

long intergenic non-protein coding RNA 207

gastric cancer associated transcript 3 (non-protein coding)

T cell receptor beta variable 7-1 (non-functional)

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 52

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

protein tyrosine phosphatase, non-receptor type 22 (lymphoid)

This gene encodes of member of the non-receptor 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 regulating CBL function in the T-cell receptor signaling pathway. Mutations in this gene may be associated with a range of autoimmune disorders including Type 1 Diabetes, rheumatoid arthritis, systemic lupus erythematosus and Graves' disease. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Mar 2009]

protein tyrosine phosphatase, non-receptor type 23

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

protein tyrosine phosphatase, non-receptor type 20

The product of this gene belongs to the family of classical tyrosine-specific protein tyrosine phosphatases. Many protein tyrosine phosphatases have been shown to regulate fundamental cellular processes. The encoded protein appears to be targeted to sites of actin polymerization. A pseudogene of this gene has been defined on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

protein tyrosine phosphatase, non-receptor type 21

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal domain, similar to cytoskeletal- associated proteins including 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 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 gene in mice suggested the possible roles of this PTP in liver regeneration and spermatogenesis. [provided by RefSeq, Jul 2008]

long intergenic non-protein coding RNA 165

long intergenic non-protein coding RNA 1252

long intergenic non-protein coding RNA 1256

long intergenic non-protein coding RNA 1254

long intergenic non-protein coding RNA 1258

non-histone chromosome protein 1

long intergenic non-protein coding RNA 1590

long intergenic non-protein coding RNA 1591

long intergenic non-protein coding RNA 1592

long intergenic non-protein coding RNA 1594

long intergenic non-protein coding RNA 1599

long intergenic non-protein coding RNA 1046

long intergenic non-protein coding RNA 1047

long intergenic non-protein coding RNA 1044

long intergenic non-protein coding RNA 1043

long intergenic non-protein coding RNA 1040

long intergenic non-protein coding RNA 1049

long intergenic non-protein coding RNA 311

long intergenic non-protein coding RNA 310

long intergenic non-protein coding RNA 313

long intergenic non-protein coding RNA 312

This gene produces an intronless transcript that is thought to function as a tumor suppressor. This transcript is downregulated in nasopharyngeal carcinoma and is a negative regulator of estrogen receptor signaling. A common polymorphism in this transcript allows the production of a 94 aa open reading frame in some individuals, which may interact directly with estrogen receptor 1 (PMID:15474036). This open reading frame does not exist on the reference genome haplotype, which is hypothesized to function through a non-coding RNA product. [provided by RefSeq, Mar 2017]

long intergenic non-protein coding RNA 315

long intergenic non-protein coding RNA 314

long intergenic non-protein coding RNA 316

immunoglobulin kappa variable 3-7 (non-functional)

Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

taurine up-regulated 1 (non-protein coding)

Predicted to enable cis-regulatory region sequence-specific DNA binding activity. Predicted to act upstream of or within several processes, including mitochondrion organization; photoreceptor cell development; and spermatogenesis. Predicted to be located in mitochondrial membrane and nuclear membrane. Predicted to be active in nucleus. Biomarker of Huntington's disease. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA, muscle differentiation 1

non-SMC condensin I complex, subunit G pseudogene

non-SMC condensin II complex, subunit H2

This gene encodes one of the non-SMC subunits of the condensin II complex. This complex plays an essential role in mitotic chromosome assembly. Alternate splicing of this gene results in multiple transcript variants.[provided by RefSeq, May 2010]

long intergenic non-protein coding RNA, regulator of reprogramming

This gene produces a long non-coding RNA that regulates the reprogramming of pluripotent stem cells. This RNA suppresses induction of tumor protein p53 after DNA damage. It is thought to act as a sponge for microRNAs that regulate stem cell factors POU class 5 homeobox 1, Nanog, and SRY-box 2. This RNA may also have a extracellular role in modulating response to hypoxia in hepatocellular cancer cells. Expression of this transcript is associated with tumor progression and epithelial to mesenchymal transition and metastasis. [provided by RefSeq, Dec 2017]

long intergenic non-protein coding RNA 571

long intergenic non-protein coding RNA 1209

long intergenic non-protein coding RNA 1201

long intergenic non-protein coding RNA 1202

long intergenic non-protein coding RNA 1203

long intergenic non-protein coding RNA 1204

long intergenic non-protein coding RNA 1205

long intergenic non-protein coding RNA 1206

long intergenic non-protein coding RNA 1207

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

T cell receptor alpha joining 25 (non-functional)

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

long intergenic non-protein coding RNA 1452

CMT1A duplicated region transcript 7 (non-protein coding)

adenosine deaminase, RNA-specific, B2 (non-functional)

This gene encodes a member of the double-stranded RNA adenosine deaminase family of RNA-editing enzymes and may play a regulatory role in RNA editing. [provided by RefSeq, Jul 2008]

long intergenic non-protein coding RNA 1166

BST2 interferon stimulated positive regulator (non-protein coding)

long intergenic non-protein coding RNA 415

long intergenic non-protein coding RNA 411

T-cell leukemia/lymphoma 6 (non-protein coding)

spermatogenesis associated 41 (non-protein coding)

spermatogenesis associated 42 (non-protein coding)

immunoglobulin heavy variable 3/OR16-13 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1088

long intergenic non-protein coding RNA 1518

long intergenic non-protein coding RNA 1519

long intergenic non-protein coding RNA 1516

long intergenic non-protein coding RNA 391

long intergenic non-protein coding RNA 393

long intergenic non-protein coding RNA 392

long intergenic non-protein coding RNA 395

long intergenic non-protein coding RNA 396

long intergenic non-protein coding RNA 399

long intergenic non-protein coding RNA 398

mental retardation, non-syndromic, autosomal recessive, 17

mental retardation, non-syndromic, autosomal recessive, 11

mental retardation, non-syndromic, autosomal recessive, 19

prostate cancer associated transcript 6 (non-protein coding)

HLA complex group 4 (non-protein coding)

HLA complex group 9 (non-protein coding)

This gene lies within the MHC class I region on chromosome 6p21.3. This gene is believed to be non-coding, but its function has not been determined. [provided by RefSeq, Jul 2009]

long intergenic non-protein coding RNA 152

This gene produces a long non-coding RNA that is overexpressed in cancer cells and promotes cell proliferation and epithelial-mesenchymal transition. This RNA may bind enhancer of zeste homolog 2 and participate in the transcriptional silencing of tumor suppressor genes. It may act as a sponge for microRNAs. Alternatively spliced variants have been observed. [provided by RefSeq, Dec 2017]

long intergenic non-protein coding RNA 159

long intergenic non-protein coding RNA 158

HAGLR opposite strand (non-protein coding)

long intergenic non-protein coding RNA 845

long intergenic non-protein coding RNA 844

long intergenic non-protein coding RNA 841

long intergenic non-protein coding RNA 840

long intergenic non-protein coding RNA 843

long intergenic non-protein coding RNA 842

long intergenic non-protein coding RNA 1495

long intergenic non-protein coding RNA 1494

long intergenic non-protein coding RNA 1497

long intergenic non-protein coding RNA 1496

long intergenic non-protein coding RNA 1493

long intergenic non-protein coding RNA 1492

long intergenic non-protein coding RNA 1498

X inactive specific transcript (non-protein coding)

X inactivation is an early developmental process in mammalian females that transcriptionally silences one of the pair of X chromosomes, thus providing dosage equivalence between males and females. The process is regulated by several factors, including a region of chromosome X called the X inactivation center (XIC). The XIC comprises several non-coding and protein-coding genes, and this gene was the first non-coding gene identified within the XIC. This gene 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 length sequences have not been determined. Mutations in the XIST promoter cause familial skewed X inactivation. [provided by RefSeq, Apr 2012]

E2F1-regulated inhibitor of cell death (non-protein coding)

long intergenic non-protein coding RNA 458

long intergenic non-protein coding RNA 459

long intergenic non-protein coding RNA 452

long intergenic non-protein coding RNA 456

long intergenic non-protein coding RNA 457

long intergenic non-protein coding RNA 454

long intergenic non-protein coding RNA 954

long intergenic non-protein coding RNA 1128

long intergenic non-protein coding RNA 1125

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1124

long intergenic non-protein coding RNA 1126

long intergenic non-protein coding RNA 1121

long intergenic non-protein coding RNA 1120

long intergenic non-protein coding RNA 1123

long intergenic non-protein coding RNA 1122

long intergenic non-protein coding RNA 298

long intergenic non-protein coding RNA 299

long intergenic non-protein coding RNA 294

long intergenic non-protein coding RNA 297

long intergenic non-protein coding RNA 293

immunoglobulin kappa variable 2D-24 (non-functional)

Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 364

proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 pseudogene

ABL proto-oncogene 1, non-receptor tyrosine kinase

This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014]

ABL proto-oncogene 2, non-receptor tyrosine kinase

This gene encodes a member of the Abelson family of nonreceptor tyrosine protein kinases. The protein is highly similar to the c-abl oncogene 1 protein, including the tyrosine kinase, SH2 and SH3 domains, and it plays a role in cytoskeletal rearrangements through its C-terminal F-actin- and microtubule-binding sequences. This gene is expressed in both normal and tumor cells, and is involved in translocation with the ets variant 6 gene in leukemia. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2009]

T cell receptor gamma 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 receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1402

long intergenic non-protein coding RNA 1024

immunoglobulin heavy variable 1/OR15-1 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 1/OR15-9 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 643

long intergenic non-protein coding RNA 642

long intergenic non-protein coding RNA 641

long intergenic non-protein coding RNA 640

long intergenic non-protein coding RNA 645

long intergenic non-protein coding RNA 644

long intergenic non-protein coding RNA 649

long intergenic non-protein coding RNA 648

long intergenic non-protein coding RNA 251

testis-specific transcript, Y-linked 3B (non-protein coding)

There are two copies of this gene within the P1 palindrome on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)

Human chromosomal region 11p15.5 contains two clusters of epigenetically-regulated genes that are expressed from only one chromosome in a parent-of-origin manner. Each cluster, or imprinted domain, is regulated by a functionally independent imprinting control region (ICR). The human CDKN1C/KCNQ1OT1 domain is regulated by an ICR located in an intron of KCNQ1, and contains at least eight genes 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 gene that is exclusively expressed from the paternal allele. The KCNQ1OT1 transcript is the antisense to the KCNQ1 gene and is a unspliced long non-coding RNA. It interacts with chromatin and regulates transcription of multiple target genes through epigenetic 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 carcinogenesis. [provided by RefSeq, Apr 2012]

protein tyrosine phosphatase, non-receptor type 11 pseudogene

testis-specific transcript, Y-linked 17A (non-protein coding)

There are three copies of this gene on chromosome Y. This record represents the most centromeric copy. [provided by RefSeq, Jul 2008]

testis-specific transcript, Y-linked 17B (non-protein coding)

There are three copies of this gene on chromosome Y. This record represents the middle copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008]

testis-specific transcript, Y-linked 17C (non-protein coding)

There are three copies of this gene on chromosome Y. This record represents the most telomeric copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008]

mental retardation, non-syndromic, autosomal recessive, 8

ribonuclease, RNase A family, 11 (non-active)

Predicted to enable endonuclease activity and nucleic acid binding activity. Predicted to be involved in defense response to Gram-positive bacterium. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

ribonuclease, RNase A family, 10 (non-active)

Predicted to enable nucleic acid binding activity. Predicted to be involved in several processes, including defense response to Gram-positive bacterium; positive regulation of flagellated sperm motility; and regulation of fertilization. Predicted to act upstream of or within epithelial cell morphogenesis; seminiferous tubule development; and single fertilization. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

ribonuclease, RNase A family, 13 (non-active)

Predicted to enable nucleic acid binding activity. Predicted to be involved in defense response to Gram-positive bacterium. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

ribonuclease, RNase A family, 12 (non-active)

Predicted to enable RNA nuclease activity. Predicted to be involved in defense response to Gram-positive bacterium. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy constant gamma P (non-functional)

HLA complex group 25 (non-protein coding)

HLA complex group 27 (non-protein coding)

long intergenic non-protein coding RNA 929

long intergenic non-protein coding RNA 603

long intergenic non-protein coding RNA 1419

long intergenic non-protein coding RNA 1415

long intergenic non-protein coding RNA 1416

long intergenic non-protein coding RNA 1411

long intergenic non-protein coding RNA 1413

long intergenic non-protein coding RNA 1412

DiGeorge syndrome critical region gene 9 (non-protein coding)

DiGeorge syndrome critical region gene 5 (non-protein coding)

Biomarker of Huntington's disease. [provided by Alliance of Genome Resources, Mar 2025]

NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae) pseudogene

long intergenic non-protein coding RNA 504

long intergenic non-protein coding RNA 505

long intergenic non-protein coding RNA 506

long intergenic non-protein coding RNA 507

long intergenic non-protein coding RNA 501

long intergenic non-protein coding RNA 216

long intergenic non-protein coding RNA 210

long intergenic non-protein coding RNA 211

mental retardation, non-syndromic, autosomal recessive, 9

long intergenic non-protein coding RNA 967

long intergenic non-protein coding RNA 964

long intergenic non-protein coding RNA 965

long intergenic non-protein coding RNA 963

long intergenic non-protein coding RNA 960

long intergenic non-protein coding RNA 961

Involved in cellular response to amino acid stimulus and negative regulation of TORC1 signaling. Located in late endosome membrane and lysosomal proton-transporting V-type ATPase complex. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1608

long intergenic non-protein coding RNA 1609

long intergenic non-protein coding RNA 1604

long intergenic non-protein coding RNA 1605

long intergenic non-protein coding RNA 1606

long intergenic non-protein coding RNA 1607

long intergenic non-protein coding RNA 1600

long intergenic non-protein coding RNA 1601

long intergenic non-protein coding RNA 1602

long intergenic non-protein coding RNA 1603

proteasome 26S subunit, non-ATPase, 10 pseudogene 3

proteasome 26S subunit, non-ATPase, 10 pseudogene 2

proteasome 26S subunit, non-ATPase, 10 pseudogene 1

long intergenic non-protein coding RNA 559

long intergenic non-protein coding RNA 558

long intergenic non-protein coding RNA 557

long intergenic non-protein coding RNA 556

long intergenic non-protein coding RNA 555

long intergenic non-protein coding RNA 552

long intergenic non-protein coding RNA 551

long intergenic non-protein coding RNA 550

long intergenic non-protein coding RNA 1337

cancer susceptibility candidate 2 (non-protein coding)

Involved in defense response to tumor cell; negative regulation of MAPK cascade; and positive regulation of cysteine-type endopeptidase activity. [provided by Alliance of Genome Resources, Mar 2025]

cancer susceptibility candidate 6 (non-protein coding)

HLA complex group 21 (non-protein coding)

cancer susceptibility candidate 8 (non-protein coding)

HLA complex group 20 (non-protein coding)

HLA complex group 23 (non-protein coding)

long intergenic non-protein coding RNA 1375

long intergenic non-protein coding RNA 1376

long intergenic non-protein coding RNA 1377

long intergenic non-protein coding RNA 1370

long intergenic non-protein coding RNA 1378

promoter of MAT2A antisense radiation-induced circulating long non-coding RNA

Enables dsDNA-RNA triple helix-forming chromatin adaptor activity and mRNA binding activity. Involved in cellular response to ionizing radiation and regulatory ncRNA-mediated heterochromatin formation. Is active in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1484

long intergenic non-protein coding RNA 28

long intergenic non-protein coding RNA 1483

long intergenic non-protein coding RNA 160

long intergenic non-protein coding RNA 1039

long intergenic non-protein coding RNA 1038

long intergenic non-protein coding RNA 1036

long intergenic non-protein coding RNA 1033

long intergenic non-protein coding RNA 1032

long intergenic non-protein coding RNA 1031

long intergenic non-protein coding RNA 1030

proteasome (prosome, macropain) 26S subunit, non-ATPase, 8

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008]

proteasome (prosome, macropain) 26S subunit, non-ATPase, 5

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a non-ATPase subunit of the 19S regulator base that functions as a chaperone protein during 26S proteasome assembly. [provided by RefSeq, Jul 2012]

proteasome (prosome, macropain) 26S subunit, non-ATPase, 4

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the non-ATPase subunits of the 19S regulator lid. Pseudogenes have been identified on chromosomes 10 and 21. [provided by RefSeq, Jul 2008]

proteasome (prosome, macropain) 26S subunit, non-ATPase, 7

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008]

proteasome (prosome, macropain) 26S subunit, non-ATPase, 6

This gene encodes a member of the protease subunit S10 family. The encoded protein is a subunit of the 26S proteasome which colocalizes with DNA damage foci and is involved in the ATP-dependent degradation of ubiquinated proteins. Alternative splicing results in multiple transcript variants [provided by RefSeq, Nov 2012]

proteasome (prosome, macropain) 26S subunit, non-ATPase, 1

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes the largest non-ATPase subunit of the 19S regulator lid, which is responsible for substrate recognition and binding. There is evidence that this proteasome and its subunits interact with viral proteins, including those of coronaviruses. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Aug 2020]

proteasome (prosome, macropain) 26S subunit, non-ATPase, 3

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the proteasome subunit S3 family that functions as one of the non-ATPase subunits of the 19S regulator lid. Single nucleotide polymorphisms in this gene are associated with neutrophil count. [provided by RefSeq, Jul 2012]

proteasome (prosome, macropain) 26S subunit, non-ATPase, 2

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the non-ATPase subunits of the 19S regulator lid. In addition to participation in proteasome function, this subunit may also participate in the TNF signalling pathway since it interacts with the tumor necrosis factor type 1 receptor. A pseudogene has been identified on chromosome 1. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

cat eye syndrome chromosome region, candidate 9 (non-protein coding)

Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

JPX transcript, XIST activator (non-protein coding)

JPX is a nonprotein-coding RNA transcribed from a gene 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]

cofilin 1 (non-muscle) pseudogene 4

cofilin 1 (non-muscle) pseudogene 5

cofilin 1 (non-muscle) pseudogene 6

cofilin 1 (non-muscle) pseudogene 7

cofilin 1 (non-muscle) pseudogene 1

cofilin 1 (non-muscle) pseudogene 2

cofilin 1 (non-muscle) pseudogene 3

cofilin 1 (non-muscle) pseudogene 8

long intergenic non-protein coding RNA 1410

cancer susceptibility candidate 18 (non-protein coding)

long intergenic non-protein coding RNA 1231

long intergenic non-protein coding RNA 1230

long intergenic non-protein coding RNA 1233

long intergenic non-protein coding RNA 1237

long intergenic non-protein coding RNA 184

1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like

Predicted to enable transaminase activity. Predicted to be involved in amino acid metabolic process. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 189

prostate androgen-regulated transcript 1 (non-protein coding)

This gene is induced by androgen in prostate adenocarcinoma cells. Multiple alternatively transcript variants have been described for this gene, none of which are predicted to encode a protein product. [provided by RefSeq, Sep 2009]

T cell receptor alpha joining 19 (non-functional)

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

H19, imprinted maternally expressed transcript (non-protein coding)

This gene is located in an imprinted region of chromosome 11 near the insulin-like growth factor 2 (IGF2) gene. This gene is only expressed from the maternally-inherited chromosome, whereas IGF2 is only expressed from the paternally-inherited chromosome. The product of this gene is a long non-coding RNA which functions as a tumor suppressor. Mutations in this gene have been associated with Beckwith-Wiedemann Syndrome and Wilms tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

long intergenic non-protein coding RNA 448

long stress-induced non-coding transcript 5

family with sequence similarity 230, member B (non-protein coding)

testis-specific transcript, Y-linked 23B (non-protein coding)

BRAF-activated non-protein coding RNA

This gene produces a long non-coding RNA that plays a role in tumor progression and epithelial to mesenchymal transition. This transcript acts through the MAP kinase signaling pathway. [provided by RefSeq, Dec 2017]

immunoglobulin lambda variable 1-50 (non-functional)

Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

psoriasis associated non-protein coding RNA induced by stress

long intergenic non-protein coding RNA 1179

long intergenic non-protein coding RNA 441

long intergenic non-protein coding RNA 440

long intergenic non-protein coding RNA 442

long intergenic non-protein coding RNA 445

long intergenic non-protein coding RNA 444

long intergenic non-protein coding RNA 446

long intergenic non-protein coding RNA 1234

long intergenic non-protein coding RNA 1239

T cell receptor beta joining 2-2P (non-functional)

long intergenic non-protein coding RNA 1521

long intergenic non-protein coding RNA 1520

long intergenic non-protein coding RNA 1525

long intergenic non-protein coding RNA 1524

long intergenic non-protein coding RNA 1527

long intergenic non-protein coding RNA 1529

long intergenic non-protein coding RNA 691

long intergenic non-protein coding RNA 692

long intergenic non-protein coding RNA 693

long intergenic non-protein coding RNA 698

long intergenic non-protein coding RNA 346

long intergenic non-protein coding RNA 347

long intergenic non-protein coding RNA 345

long intergenic non-protein coding RNA 342

Biomarker of Huntington's disease. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 343

long intergenic non-protein coding RNA 341

long intergenic non-protein coding RNA 348

PCGEM1, prostate-specific transcript (non-protein coding)

This gene produces a long non-coding RNA that is overexpressed in prostate cancer and may act a marker for tumor progression. This RNA may act a negative regulator of apoptosis, and may promote activity of androgen receptor and Myc. [provided by RefSeq, Dec 2017]

spectrin, beta, non-erythrocytic 5

Enables cytoskeletal protein binding activity; dynein intermediate chain binding activity; and identical protein binding activity. Acts upstream of or within Golgi organization and lysosomal transport. Located in cytoplasm; photoreceptor connecting cilium; and photoreceptor disc membrane. [provided by Alliance of Genome Resources, Mar 2025]

spectrin, beta, non-erythrocytic 4

Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

spectrin, beta, non-erythrocytic 2

Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. [provided by RefSeq, Dec 2009]

spectrin, beta, non-erythrocytic 1

Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

non-SMC condensin II complex, subunit G2

This gene encodes a protein that belongs to the Condensin2nSMC family of proteins. The encoded protein is a regulatory subunit of the condensin II complex which, along with the condensin I complex, plays a role in chromosome assembly and segregation during mitosis. A similar protein in mouse is required for early development of the embryo. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

testis expressed 41 (non-protein coding)

long intergenic non-protein coding RNA 1543

long intergenic non-protein coding RNA 1541

long intergenic non-protein coding RNA 1544

long intergenic non-protein coding RNA 102

long intergenic non-protein coding RNA 290

FOXF1 adjacent non-coding developmental regulatory RNA

This gene produces a spliced long non-coding RNA transcribed bidirectionally with FOXF1 on the opposite strand. A similar gene in mouse is essential for normal development of the heart and body wall. The encoded transcript is thought to act by binding to polycomb repressive complex 2 (PRC2) and/or TrxG/MLL complexes to promote the methylation of the promoters of target genes, thus reducing their expression. It has been suggested that this transcript may play a role in the progression of gastric cancer. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]

long intergenic non-protein coding RNA 266-3

long intergenic non-protein coding RNA 266-1

non-protein coding RNA 250

long intergenic non-protein coding RNA 632

long intergenic non-protein coding RNA 634

Involved in neuron maturation. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

BMX non-receptor tyrosine kinase

This gene encodes a non-receptor tyrosine kinase belonging to the Tec kinase family. The protein contains a PH-like domain, which mediates membrane targeting by binding to phosphatidylinositol 3,4,5-triphosphate (PIP3), and a SH2 domain that binds to tyrosine-phosphorylated proteins and functions in signal transduction. The protein is implicated in several signal transduction pathways including the Stat pathway, and regulates differentiation and tumorigenicity of several types of cancer cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]

sigma non-opioid intracellular receptor 1

This gene encodes a receptor protein that interacts with a variety of psychotomimetic drugs, including cocaine and amphetamines. The receptor 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 receptor sigma 1 (OPRS1), the product of this gene was erroneously thought to function as an opioid receptor; it is now thought to be a non-opioid receptor. Mutations in this gene has been associated with juvenile amyotrophic lateral sclerosis 16. Alternative splicing of this gene results in transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2013]

long intergenic non-protein coding RNA 1176

long intergenic non-protein coding RNA 1177

long intergenic non-protein coding RNA 1069

long intergenic non-protein coding RNA 1065

mental retardation, non-syndromic, autosomal recessive, 25

Prader-Willi region non-protein coding RNA 1

This gene is located in the Prader-Willi syndrome (PWS) region of chromosome 15, which is known to undergo imprinting. The transcript is believed to be non-coding. It is bi-allelically expressed in testis and kidney, but mono-allelically expressed from the paternal allele in brain. This gene is poly-adenylated and is known to undergo alternative splicing. Transcript variants may represent part of a complex imprinting center-SNURF-SNRPN transcription unit. The contribution of this gene to the PWS phenotype is unknown, but it has been suggested that it may play a role in establishing paternal imprinting in the PWS region, perhaps by maintaining the paternal allele in an open chromatin configuration. [provided by RefSeq, Sep 2009]

Prader-Willi region non-protein coding RNA 2

Prader-Willi region non-protein coding RNA 3

long intergenic non-protein coding RNA 862

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

non-SMC element 4 homolog A (S. cerevisiae) pseudogene

long intergenic non-protein coding RNA 333

long intergenic non-protein coding RNA 331

long intergenic non-protein coding RNA 1468

long intergenic non-protein coding RNA 1003

long intergenic non-protein coding RNA 618

long intergenic non-protein coding RNA 619

long intergenic non-protein coding RNA 610

long intergenic non-protein coding RNA 612

long intergenic non-protein coding RNA 613

long intergenic non-protein coding RNA 614

long intergenic non-protein coding RNA 615

long intergenic non-protein coding RNA 616

proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 pseudogene 1

long intergenic non-protein coding RNA 1435

protein tyrosine phosphatase, non-receptor type 3

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. P97, a cell cycle regulator 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 regulated by adaptor protein 14-3-3 beta. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]

mental retardation, non-syndromic, autosomal recessive, 4

testis-specific transcript, Y-linked 6B (non-protein coding)

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]

long intergenic non-protein coding RNA 1151

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 968

long intergenic non-protein coding RNA 1005

long intergenic non-protein coding RNA 892

long intergenic non-protein coding RNA 893

long intergenic non-protein coding RNA 890

Predicted to be located in membrane. Predicted to be active in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 891

long intergenic non-protein coding RNA 896

long intergenic non-protein coding RNA 894

long intergenic non-protein coding RNA 895

long intergenic non-protein coding RNA 898

long intergenic non-protein coding RNA 899

eosinophil granule ontogeny transcript (non-protein coding)

Biomarker of congestive heart failure. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy diversity 1-14 (non-functional)

long intergenic non-protein coding RNA 1442

long intergenic non-protein coding RNA 1443

long intergenic non-protein coding RNA 1440

long intergenic non-protein coding RNA 1446

long intergenic non-protein coding RNA 1447

long intergenic non-protein coding RNA 1444

long intergenic non-protein coding RNA 1445

long intergenic non-protein coding RNA 1448

long intergenic non-protein coding RNA 1449

myosin, light chain 12A, regulatory, non-sarcomeric

This gene encodes a nonsarcomeric myosin regulatory light chain. This protein is activated by phosphorylation and regulates smooth muscle and non-muscle cell contraction. This protein may also be involved in DNA damage repair by sequestering the transcriptional regulator apoptosis-antagonizing transcription factor (AATF)/Che-1 which functions as a repressor of p53-driven apoptosis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8.[provided by RefSeq, Dec 2014]

non-SMC condensin I complex, subunit G pseudogene

HLA complex group 26 (non-protein coding) pseudogene

HLA complex group 26 (non-protein coding) pseudogene

HLA complex group 26 (non-protein coding) pseudogene

protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) pseudogene

long intergenic non-protein coding RNA 229

long intergenic non-protein coding RNA 226

long intergenic non-protein coding RNA 221

long intergenic non-protein coding RNA 222

apoptotic BCL2L1-antisense long non-coding RNA

long intergenic non-protein coding RNA 917

long intergenic non-protein coding RNA 911

long intergenic non-protein coding RNA 910

long intergenic non-protein coding RNA 1515

disrupted in schizophrenia 2 (non-protein coding)

DISC2 is thought to specify a noncoding RNA molecule antisense to DISC1 (MIM 605210). Both genes were found to be disrupted by a translocation in a large schizophrenia (MIM 181500) kindred.[supplied by OMIM, Jul 2002]

immunoglobulin heavy diversity 4-11 (non-functional)

immunoglobulin heavy diversity 2/OR15-2B (non-functional)

immunoglobulin heavy diversity 2/OR15-2A (non-functional)

psoriasis susceptibility 1 candidate 3 (non-protein coding)

long intergenic non-protein coding RNA 1349

long intergenic non-protein coding RNA 1344

long intergenic non-protein coding RNA 1347

long intergenic non-protein coding RNA 1346

long intergenic non-protein coding RNA 1341

long intergenic non-protein coding RNA 1340

long intergenic non-protein coding RNA 1343

long intergenic non-protein coding RNA 1342

long intergenic non-protein coding RNA 1264

immunoglobulin kappa variable 6D-41 (non-functional)

Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

protein tyrosine phosphatase, non-receptor type 2 pseudogene 2

immunoglobulin heavy variable 4/OR15-8 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 710

immunoglobulin lambda variable 3-32 (non-functional)

Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

cancer susceptibility candidate 7 (non-protein coding)

long intergenic non-protein coding RNA 498

long intergenic non-protein coding RNA 499

cancer susceptibility candidate 9 (non-protein coding)

non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 3

non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 2

non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 1

non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 5

non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 4

non-histone chromosomal protein HMG-17 pseudogene

proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 pseudogene

proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 pseudogene

proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 pseudogene

T cell receptor beta variable 17 (non-functional)

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 997

long intergenic non-protein coding RNA 994

long intergenic non-protein coding RNA 993

long intergenic non-protein coding RNA 992

long intergenic non-protein coding RNA 999

long intergenic non-protein coding RNA 998

Involved in negative regulation of type I interferon-mediated signaling pathway. Located in endoplasmic reticulum membrane and mitochondrial membrane. [provided by Alliance of Genome Resources, Mar 2025]

N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2

Ceramidases (EC 3.5.1.23), such as ASAH2, catalyze hydrolysis of the N-acyl linkage of ceramide, a second messenger in a variety of cellular events, to produce sphingosine. Sphingosine exerts both mitogenic and apoptosis-inducing activities, and its phosphorylated form functions as an intra- and intercellular second messenger (see MIM 603730) (Mitsutake et al., 2001 [PubMed 11328816]).[supplied by OMIM, Mar 2008]

non-SMC condensin I complex, subunit H

This gene encodes a member of the barr gene family and a regulatory subunit of the condensin complex. This complex is required for the conversion of interphase chromatin into condensed chromosomes. The protein encoded by this gene is associated with mitotic chromosomes, except during the early phase of chromosome condensation. During interphase, the protein has a distinct punctate nucleolar localization. Alternatively spliced transcript variants encoding different proteins have been described. [provided by RefSeq, Jul 2013]

non-SMC condensin I complex, subunit G

This gene encodes a subunit of the condensin complex, which is responsible for the condensation and stabilization of chromosomes during mitosis and meiosis. Phosphorylation of the encoded protein activates the condensin complex. There are pseudogenes for this gene on chromosomes 8 and 15. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

non-POU domain containing, octamer-binding

This gene encodes an RNA-binding protein which plays various roles in the nucleus, including transcriptional regulation and RNA splicing. A rearrangement between this gene and the transcription factor E3 gene has been observed in papillary renal cell carcinoma. Alternatively spliced transcript variants have been described. Pseudogenes exist on Chromosomes 2 and 16. [provided by RefSeq, Feb 2009]

long intergenic non-protein coding RNA 508

long intergenic non-protein coding RNA 502

long intergenic non-protein coding RNA 696

non-insulin-dependent diabetes mellitus (common, type 2) 2

non-insulin-dependent diabetes mellitus (common, type 2) 1

cat eye syndrome chromosome region, candidate 3 (non-protein coding)

cancer susceptibility candidate 11 (non-protein coding)

Enables chromatin-protein adaptor activity and promoter-enhancer loop anchoring activity. Involved in chromatin looping and positive regulation of transcription by RNA polymerase II. Is active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

cancer susceptibility candidate 17 (non-protein coding)

cancer susceptibility candidate 16 (non-protein coding)

cancer susceptibility candidate 15 (non-protein coding)

This gene produces a long non-coding RNA that may regulate cell proliferation. This RNA is upregulated in hepatocellular carcinoma, where it is thought to function as an oncogene. However, some splice variants of this gene may function as a tumor suppressor in neuroblastoma and other tumor types. Circular RNA variants were observed at this gene. [provided by RefSeq, Dec 2017]

cancer susceptibility candidate 19 (non-protein coding)

immunoglobulin heavy variable 3-16 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

testis-specific transcript, Y-linked 2 (non-protein coding)

testis-specific transcript, Y-linked 3 (non-protein coding)

There are two copies of this gene within the P1 palindrome on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

testis-specific transcript, Y-linked 1 (non-protein coding)

testis-specific transcript, Y-linked 6 (non-protein coding)

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]

testis-specific transcript, Y-linked 7 (non-protein coding)

testis-specific transcript, Y-linked 4 (non-protein coding)

There are three copies of this gene on chromosome Y. This record represents the most centromeric copy. [provided by RefSeq, Jul 2008]

testis-specific transcript, Y-linked 5 (non-protein coding)

There is a single copy of this gene on chromosome Y at the center of the P3 palindrome. [provided by RefSeq, Jul 2008]

testis-specific transcript, Y-linked 8 (non-protein coding)

long intergenic non-protein coding RNA 317

protein tyrosine phosphatase, non-receptor type 11 pseudogene

metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)

This gene produces a precursor transcript from which a long non-coding RNA is derived by RNase P cleavage 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 thought to form molecular scaffolds for ribonucleoprotein complexes. It may act as a transcriptional regulator for numerous genes, including some genes involved in cancer metastasis and cell migration, and it is involved in cell cycle regulation. Its upregulation in multiple cancerous tissues has been associated with the proliferation and metastasis of tumor cells. [provided by RefSeq, Mar 2015]

long intergenic non-protein coding RNA 1372

long intergenic non-protein coding RNA 1068

long intergenic non-protein coding RNA 1060

long intergenic non-protein coding RNA 1061

long intergenic non-protein coding RNA 1063

long intergenic non-protein coding RNA 339

long intergenic non-protein coding RNA 337

long intergenic non-protein coding RNA 336

long intergenic non-protein coding RNA 334

long intergenic non-protein coding RNA 330

protein tyrosine phosphatase, non-receptor type 9

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal domain that shares a significant similarity with yeast SEC14, which is a protein that has phosphatidylinositol transfer activity and is required for protein secretion through the Golgi complex in yeast. This PTP was found to be activated by polyphosphoinositide, and is thought to be involved in signaling events regulating phagocytosis. [provided by RefSeq, Jul 2008]

protein tyrosine phosphatase, non-receptor type 2

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. Epidermal growth factor receptor and the adaptor protein Shc were reported to be substrates of this PTP, which suggested the roles in growth factor mediated cell signaling. Multiple alternatively spliced transcript variants encoding different isoforms have been found. Two highly related but distinctly processed pseudogenes that localize to chromosomes 1 and 13, respectively, have been reported. [provided by RefSeq, May 2011]

protein tyrosine phosphatase, non-receptor type 1

The protein encoded by this gene is the founding 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 highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP has been shown to act as a negative regulator of insulin signaling by dephosphorylating the phosphotryosine residues of insulin receptor kinase. This PTP was also reported to dephosphorylate epidermal growth factor receptor kinase, as well as JAK2 and TYK2 kinases, which implicated the role of this PTP in cell growth control, and cell response to interferon stimulation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]

protein tyrosine phosphatase, non-receptor type 7

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This gene is preferentially expressed in a variety of hematopoietic cells, and is an early response gene 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 regulation of T cell antigen receptor (TCR) signaling, which was thought to function through dephosphorylating the molecules related to MAP kinase pathway. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2010]

protein tyrosine phosphatase, non-receptor type 6

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

protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)

Enables phosphotyrosine residue binding activity. Predicted to be involved in signal 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 Genome Resources, Mar 2025]

protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. This PTP has been shown to interact with glutamate receptor delta 2 and epsilon subunits, and is thought to play a role in signalling downstream of the glutamate receptors through tyrosine dephosphorylation. [provided by RefSeq, Jul 2008]

non-protein coding RNA, associated with MAP kinase pathway and growth arrest

long intergenic non-protein coding RNA 1220

long intergenic non-protein coding RNA 29

X active specific transcript (non-protein coding)

This gene produces a spliced long non-coding RNA that is thought 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]

long intergenic non-protein coding RNA 674

long intergenic non-protein coding RNA 1268

long intergenic non-protein coding RNA 1266

long intergenic non-protein coding RNA 1267

long intergenic non-protein coding RNA 1265

long intergenic non-protein coding RNA 1260

long intergenic non-protein coding RNA 1232

long intergenic non-protein coding RNA 94

non-protein coding RNA, repressor of NFAT

Predicted to act upstream of or within negative regulation of dephosphorylation; regulation of calcineurin-NFAT signaling cascade; and regulation of cytokine production. Predicted to be part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Mar 2025]

N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2B

Predicted to enable N-acylsphingosine amidohydrolase activity. Predicted to be involved in ceramide catabolic process. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1384

long intergenic non-protein coding RNA 587

long intergenic non-protein coding RNA 581

long intergenic non-protein coding RNA 582

long intergenic non-protein coding RNA 583

long intergenic non-protein coding RNA 588

long intergenic non-protein coding RNA 589

long intergenic non-protein coding RNA 1189

long intergenic non-protein coding RNA 1183

long intergenic non-protein coding RNA 1182

long intergenic non-protein coding RNA 1181

long intergenic non-protein coding RNA 1187

long intergenic non-protein coding RNA 1186

long intergenic non-protein coding RNA 1185

long intergenic non-protein coding RNA, p53 induced transcript

Involved in negative regulation of transcription by RNA polymerase II. Located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 378

COPG2 imprinted transcript 1 (non-protein coding)

long intergenic non-protein coding RNA 1119

long intergenic non-protein coding RNA 1578

Predicted to be involved in several processes, including adipose tissue development; regulation of gene expression; and thymus development. Predicted to be active in chromatin and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1579

long intergenic non-protein coding RNA 1574

long intergenic non-protein coding RNA 1572

long intergenic non-protein coding RNA 1573

long intergenic non-protein coding RNA 1570

long intergenic non-protein coding RNA 1571

long intergenic non-protein coding RNA 1398

long intergenic non-protein coding RNA 1399

long intergenic non-protein coding RNA 1392

long intergenic non-protein coding RNA 1393

long intergenic non-protein coding RNA 1391

long intergenic non-protein coding RNA 1396

long intergenic non-protein coding RNA 1397

long intergenic non-protein coding RNA 1395

long intergenic non-protein coding RNA 621

long intergenic non-protein coding RNA 620

long intergenic non-protein coding RNA 623

long intergenic non-protein coding RNA 624

long intergenic non-protein coding RNA 626

long intergenic non-protein coding RNA 629

long intergenic non-protein coding RNA 628

protein tyrosine phosphatase, non-receptor type 11 pseudogene

immunoglobulin heavy diversity 4/OR15-4B (non-functional)

mental retardation, non-syndromic, autosomal recessive, 27

proteasome (prosome, macropain) 26S subunit, non-ATPase, 9

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, May 2012]

long intergenic non-protein coding RNA 265-2, pseudogene

long intergenic non-protein coding RNA 869

long intergenic non-protein coding RNA 868

long intergenic non-protein coding RNA 867

long intergenic non-protein coding RNA 866

long intergenic non-protein coding RNA 1180

long intergenic non-protein coding RNA 1184

long intergenic non-protein coding RNA 936

non-SMC element 4 homolog A (S. cerevisiae) pseudogene

colon cancer associated transcript 2 (non-protein coding)

This gene produces a long non-coding RNA that is upregulated in colon cancer and other cancers. This transcript promotes cell proliferation and suppresses apoptosis. It negatively regulates the biogenesis of microRNA 145. [provided by RefSeq, Dec 2017]

long intergenic non-protein coding RNA 470

long intergenic non-protein coding RNA 472

long intergenic non-protein coding RNA 473

Involved in DNA-templated transcription. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 474

long intergenic non-protein coding RNA 475

long intergenic non-protein coding RNA 476

long intergenic non-protein coding RNA 477

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 479

long intergenic non-protein coding RNA 1103

long intergenic non-protein coding RNA 1102

long intergenic non-protein coding RNA 1101

long intergenic non-protein coding RNA 1100

long intergenic non-protein coding RNA 1107

long intergenic non-protein coding RNA 1106

long intergenic non-protein coding RNA 1105

long intergenic non-protein coding RNA 1104

long intergenic non-protein coding RNA 1109

long intergenic non-protein coding RNA 1108

D4Z4 binding element transcript (non-protein coding)

long intergenic non-protein coding RNA 278

long intergenic non-protein coding RNA 279

long intergenic non-protein coding RNA 708

long intergenic non-protein coding RNA 709

long intergenic non-protein coding RNA 702

HLA complex group 24 (non-protein coding)

HLA complex group 26 (non-protein coding)

proteasome (prosome, macropain) 26S subunit, non-ATPase, 14 pseudogene

long intergenic non-protein coding RNA 1312

long intergenic non-protein coding RNA 1310

long intergenic non-protein coding RNA 1311

long intergenic non-protein coding RNA 1314

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1315

testis-specific transcript, Y-linked 14 (non-protein coding)

testis-specific transcript, Y-linked 15 (non-protein coding)

testis-specific transcript, Y-linked 16 (non-protein coding)

testis-specific transcript, Y-linked 10 (non-protein coding)

testis-specific transcript, Y-linked 11 (non-protein coding)

testis-specific transcript, Y-linked 12 (non-protein coding)

testis-specific transcript, Y-linked 13 (non-protein coding)

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

testis-specific transcript, Y-linked 18 (non-protein coding)

testis-specific transcript, Y-linked 19 (non-protein coding)

testis-specific transcript, Y-linked 1B (non-protein coding)

papillary thyroid carcinoma susceptibility candidate 1 (non-protein coding)

papillary thyroid carcinoma susceptibility candidate 3 (non-protein coding)

long intergenic non-protein coding RNA 1235

ribonuclease, RNase A family, 9 (non-active)

Predicted to enable nucleic acid binding activity. Predicted to be involved in defense response to Gram-positive bacterium. Predicted to act upstream of or within positive regulation of flagellated sperm motility involved in capacitation. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1433

long intergenic non-protein coding RNA 1432

long intergenic non-protein coding RNA 1431

long intergenic non-protein coding RNA 1430

long intergenic non-protein coding RNA 1299

long intergenic non-protein coding RNA 1293

long intergenic non-protein coding RNA 1291

cancer susceptibility candidate 23 (non-protein coding)

long intergenic non-protein coding RNA 1165

MER1 repeat containing imprinted transcript 1 (non-protein coding)

family with sequence similarity 99, member A (non-protein coding)

family with sequence similarity 99, member B (non-protein coding)

hydatidiform mole associated and imprinted (non-protein coding)

This gene, which encodes a non-protein coding transcript, exhibits differential DNA methylation between the two parental alleles at an adjacent CpG island, and is expressed only from the paternal allele. It is believed to be one of the causative genes for transient neonatal diabetes mellitus (TNDM), which is a rare disease characterized by intrauterine growth retardation, dehydration, and failure to thrive due to a lack of normal insulin secretion. [provided by RefSeq, Oct 2010]

urothelial cancer associated 1 (non-protein coding)

This gene produces a long non-coding RNA that was found to be upregulated in bladder cancer and plays a regulatory role in cell proliferation. This transcript regulates several genes, including CREB (cAMP responsive element binding protein). Expression of this transcript is regulated by CCAAT/enhancer-binding protein-alpha. [provided by RefSeq, Dec 2017]

immunoglobulin heavy variable 3/OR16-12 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3/OR16-10 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 944

long intergenic non-protein coding RNA 945

long intergenic non-protein coding RNA 941

Enables promoter-enhancer loop anchoring activity. Involved in chromatin looping and positive regulation of transcription by RNA polymerase II. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 942

long intergenic non-protein coding RNA 943

family with sequence similarity 224, member B (non-protein coding)

This locus is transcribed but does not appear to encode a protein. Two identical copies of this gene are present in a palindromic region on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

family with sequence similarity 224, member A (non-protein coding)

This locus is transcribed but does not appear to encode a protein. Two identical copies of this gene are present in a palindromic region on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

ovarian adenocarcinoma amplified long non-coding RNA

Predicted to enable pre-mRNA branch point binding activity. Predicted to be involved in mRNA branch site recognition. Predicted to be part of U2 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 535

long intergenic non-protein coding RNA 534

long intergenic non-protein coding RNA 537

Predicted to be a structural constituent of ribosome. Predicted to be located in ribosome. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 536

long intergenic non-protein coding RNA 533

long intergenic non-protein coding RNA 539

long intergenic non-protein coding RNA 538

cancer susceptibility candidate 22 (non-protein coding)

cancer susceptibility candidate 20 (non-protein coding)

cancer susceptibility candidate 21 (non-protein coding)

testis-specific transcript, Y-linked 9A (non-protein coding)

This gene is transcribed but does not appear to encode a protein. Two identical copies of this gene are present in a palindromic region (P4) on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

testis-specific transcript, Y-linked 9B (non-protein coding)

This gene is transcribed but does not appear to encode a protein. Two identical copies of this gene are present in a palindromic region (P4) on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

tumor protein p53 pathway corepressor 1 (non-protein coding)

Predicted to act upstream of or within negative regulation of gene expression. Predicted to be part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Mar 2025]

myosin, light chain 6, alkali, smooth muscle and non-muscle

Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain that is expressed in smooth muscle and non-muscle tissues. Genomic sequences representing several pseudogenes have been described and two transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

long intergenic non-protein coding RNA 1588

long intergenic non-protein coding RNA 1585

long intergenic non-protein coding RNA 1583

long intergenic non-protein coding RNA 1582

long intergenic non-protein coding RNA 1581

long intergenic non-protein coding RNA 1580

long intergenic non-protein coding RNA 1055

long intergenic non-protein coding RNA 1057

long intergenic non-protein coding RNA 1056

long intergenic non-protein coding RNA 1050

long intergenic non-protein coding RNA 1053

long intergenic non-protein coding RNA 1059

long intergenic non-protein coding RNA 1217

long intergenic non-protein coding RNA 1216

long intergenic non-protein coding RNA 1210

long intergenic non-protein coding RNA 1219

long intergenic non-protein coding RNA 1218

TP53 target 1 (non-protein coding)

long intergenic non-protein coding RNA 1213

antisense of IGF2R non-protein coding RNA

Both spliced and un-spliced long non-coding RNAs are transcribed from this gene. This gene overlaps on the opposite strand the second intron of the insulin-like growth factor 2 receptor gene; a CpG island associated with the second intron denotes an active promoter that drives the expression of this gene. The related mouse gene is responsible for silencing the insulin-like growth factor 2 receptor gene and flanking genes in the imprinted gene cluster of mice. This gene may be expressed in Wilms tumors. [provided by RefSeq, Feb 2013]

T cell receptor alpha joining 35 (non-functional)

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

olfactory receptor, family 10, subfamily D, member 3 (non-functional)

Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]

immunoglobulin lambda variable 2-33 (non-functional)

Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

testis-specific transcript, Y-linked 21B (non-protein coding)

long intergenic non-protein coding RNA 328-2, pseudogene

long intergenic non-protein coding RNA 1298

long intergenic non-protein coding RNA 1296

T cell receptor beta variable 20/OR9-2 (non-functional)

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy diversity 4/OR15-4A (non-functional)

Down syndrome critical region 9 (non-protein coding)

non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)

Predicted to contribute to ubiquitin protein ligase activity. Involved in positive regulation of cell population proliferation. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae) pseudogene

long intergenic non-protein coding RNA 1507

long intergenic non-protein coding RNA 1506

long intergenic non-protein coding RNA 1505

long intergenic non-protein coding RNA 1503

long intergenic non-protein coding RNA 1502

long intergenic non-protein coding RNA 1501

long intergenic non-protein coding RNA 1500

long intergenic non-protein coding RNA 1509

long intergenic non-protein coding RNA 1508

MIAT neighbor (non-protein coding)

long intergenic non-protein coding RNA 368

long intergenic non-protein coding RNA 365

long intergenic non-protein coding RNA 366

long intergenic non-protein coding RNA 367

long intergenic non-protein coding RNA 362

long intergenic non-protein coding RNA 363

long intergenic non-protein coding RNA 1144

long intergenic non-protein coding RNA 1140

RBAK downstream neighbor (non-protein coding)

tumor suppressor candidate 7 (non-protein coding)

tumor suppressor candidate 8 (non-protein coding)

Enables miRNA inhibitor activity via base-pairing. Involved in lncRNA-mediated post-transcriptional gene silencing. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin kappa variable 1/OR2-0 (non-functional)

mitochondrially encoded long non-coding cardiac associated RNA

long intergenic non-protein coding RNA 167

long intergenic non-protein coding RNA 162

long intergenic non-protein coding RNA 163

long intergenic non-protein coding RNA 161

long intergenic non-protein coding RNA 836

long intergenic non-protein coding RNA 837

long intergenic non-protein coding RNA 838

long intergenic non-protein coding RNA 839

dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)

This gene encodes a component of the oligosaccharyltransferase complex which catalyzes the transfer of high-mannose oligosaccharides to asparagine residues on nascent polypeptides in the lumen of the rough endoplasmic reticulum. The protein complex co-purifies with ribosomes. The product of this gene is also implicated in the processing of advanced glycation endproducts (AGEs), which form from non-enzymatic reactions between sugars and proteins or lipids and are associated with aging and hyperglycemia. [provided by RefSeq, Jul 2008]

proteasome 26S subunit, non-ATPase, 2 pseudogene 1

long intergenic non-protein coding RNA 1158

Predicted to act upstream of or within regulation of gene expression. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1159

Predicted to act upstream of or within cerebellar cortex structural organization; homeostasis of number of cells within a tissue; and regulation of gene expression. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1150

long intergenic non-protein coding RNA 1152

long intergenic non-protein coding RNA 1153

long intergenic non-protein coding RNA 283

long intergenic non-protein coding RNA 282

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 280

long intergenic non-protein coding RNA 284

prostate cancer associated transcript 29 (non-protein coding)

This gene is thought to produce a functional long non-coding RNA. This transcript was identified in prostate cancer cells and may suppress tumor formation. [provided by RefSeq, Feb 2015]

immunoglobulin heavy variable 3/OR16-9 (non-functional)

Predicted to be involved in adaptive immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]