Harmonizome 3.0

COMM domain-containing protein 6-like

NLR family, pyrin domain containing 14

The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq, Jul 2008]

KDEL (Lys-Asp-Glu-Leu) containing 1 pseudogene 1

leucine rich repeat containing 37, member A10, pseudogene

tripartite motif-containing protein LOC642612

putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8

leucine rich repeat containing 27

Predicted to enable actin binding activity. Predicted to be involved in cardiac muscle cell development. Predicted to be active in cytoskeleton and sarcomere. [provided by Alliance of Genome Resources, Mar 2025]

leucine rich repeat containing 26

Enables potassium channel activator activity; transmembrane transporter binding activity; and voltage-gated potassium channel activity. Involved in positive regulation of voltage-gated potassium channel activity and potassium ion transmembrane transport. Located in plasma membrane. Part of voltage-gated potassium channel complex. [provided by Alliance of Genome Resources, Mar 2025]

leucine rich repeat containing 24

Predicted to act upstream of or within positive regulation of synapse assembly. Predicted to be located in membrane. Predicted to be active in external side of plasma membrane; extracellular matrix; and extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

leucine rich repeat containing 23

Involved in flagellated sperm motility and radial spoke assembly. Located in sperm flagellum. Implicated in spermatogenic failure 92. [provided by Alliance of Genome Resources, Mar 2025]

leucine rich repeat containing 20

leucine rich repeat containing 29

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains 9 tandem leucine-rich repeats. Two transcript variants encoding the same protein have been found for this gene. Other variants may occur, but their full-length natures have not been characterized. [provided by RefSeq, Jul 2008]

leucine rich repeat containing 28

Predicted to be involved in intracellular signal transduction. [provided by Alliance of Genome Resources, Mar 2025]

coiled-coil domain containing 178

Located in ciliary basal body. [provided by Alliance of Genome Resources, Mar 2025]

coiled-coil domain containing 170

The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found. [provided by RefSeq, May 2010]

coiled-coil domain containing 172

Predicted to be located in sperm midpiece. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

coiled-coil domain containing 173

Predicted to be involved in flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Mar 2025]

coiled-coil domain containing 174

The protein encoded by this gene is found in the nucleus, where it interacts with eukaryotic translation initiation factor 4A, isoform 3. The encoded protein appears to be a part of the exon junction complex, which is involved in RNA processing, translation, and nonsense-mediated mRNA decay. A mutation in this gene has been associated with infantile hypotonia with psychomotor retardation. [provided by RefSeq, Mar 2016]

coiled-coil domain containing 175

coiled-coil domain containing 176

Predicted to be involved in sperm axoneme assembly. Predicted to act upstream of or within several processes, including cilium movement involved in cell motility; negative regulation of microtubule depolymerization; and protein stabilization. Predicted to be located in axoneme; ciliary basal body; and sperm flagellum. [provided by Alliance of Genome Resources, Mar 2025]

coiled-coil domain containing 177

abhydrolase domain containing 15 pseudogene

abhydrolase domain containing 15 pseudogene

regulatory subunit of type II PKA R-subunit (RIIa) domain containing 1

golgi-associated, gamma adaptin ear containing, ARF binding protein 1

This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) protein family. Members of this family are ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

golgi-associated, gamma adaptin ear containing, ARF binding protein 3

This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010]

golgi-associated, gamma adaptin ear containing, ARF binding protein 2

This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. This family member may play a significant role in cargo molecules regulation and clathrin-coated vesicle assembly. [provided by RefSeq, Jul 2008]

formin homology 2 domain containing 1

This gene encodes a protein which is a member of the formin/diaphanous family of proteins. The gene is ubiquitously expressed but is found in abundance in the spleen. The encoded protein has sequence homology to diaphanous and formin proteins within the Formin Homology (FH)1 and FH2 domains. It also contains a coiled-coil domain, a collagen-like domain, two nuclear localization signals, and several potential PKC and PKA phosphorylation sites. It is a predominantly cytoplasmic protein and is expressed in a variety of human cell lines. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

formin homology 2 domain containing 3

The protein encoded by this gene is a member of the diaphanous-related formins (DRF), and contains multiple domains, including GBD (GTPase-binding domain), DID (diaphanous inhibitory domain), FH1 (formin homology 1), FH2 (formin homology 2), and DAD (diaphanous auto-regulatory domain) domains. This protein is thought to play a role in actin filament polymerization in cardiomyocytes. Mutations in this gene have been associated with dilated cardiomyopathy (DCM), characterized by dilation of the ventricular chamber, leading to impairment of systolic pump function and subsequent heart failure. Increased levels of the protein encoded by this gene have been observed in individuals with hypertrophic cardiomyopathy (HCM). Alternative splicing results in multiple transcript variants encoding different isoforms. A muscle-specific isoform has been shown to possess a casein kinase 2 (CK2) phosphorylation site at the C-terminal end of the FH2 domain. Phosphorylation of this site alters its interaction with sequestosome 1 (SQSTM1), and targets this isoform to myofibrils, while other isoforms form cytoplasmic aggregates. [provided by RefSeq, Aug 2015]

NACC family member 2, BEN and BTB (POZ) domain containing

Enables several functions, including DNA-binding transcription repressor activity, RNA polymerase II-specific; histone deacetylase binding activity; and protein homodimerization activity. Involved in several processes, including negative regulation of transcription by RNA polymerase II; positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage; and protein homooligomerization. Located in chromatin; mitochondrion; and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

nucleus accumbens associated 1, BEN and BTB (POZ) domain containing

This gene encodes a member of the BTB/POZ protein family. BTB/POZ proteins are involved in several cellular processes including proliferation, apoptosis and transcription regulation. The encoded protein is a transcriptional repressor that plays a role in stem cell self-renewal and pluripotency maintenance. The encoded protein also suppresses transcription of the candidate tumor suppressor Gadd45GIP1, and expression of this gene may play a role in the progression of multiple types of cancer. A pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Feb 2012]

coiled-coil domain containing 59 pseudogene

MACRO domain containing 2

The protein encoded by this gene is a deacetylase involved in removing ADP-ribose from mono-ADP-ribosylated proteins. The encoded protein has been shown to translocate from the nucleus to the cytoplasm upon DNA damage. [provided by RefSeq, May 2017]

MACRO domain containing 1

Enables ADP-ribosylglutamate hydrolase activity and deacetylase activity. Involved in DNA damage response; peptidyl-glutamate ADP-deribosylation; and purine nucleoside metabolic process. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

somatomedin B and thrombospondin, type 1 domain containing

Predicted to be an extracellular matrix structural constituent. Located in collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Mar 2025]

DTW domain containing 1 pseudogene

G patch domain containing 2

The gene encodes a nuclear factor that may play a role in spermatogenesis and in tumor growth during breast cancer. The encoded protein contains a G-patch domain with an RNA binding motif. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]

tripartite motif containing 75, pseudogene

Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in female meiosis I and innate immune response. Located in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

ankyrin repeat and FYVE domain containing 1

This gene encodes a cytoplasmic protein that contains a coiled-coil structure and a BTB/POZ domain at its N-terminus, ankyrin repeats in the middle portion, and a FYVE-finger motif at its C-terminus. This protein belongs to a subgroup of double zinc finger proteins which may be involved in vesicle or protein transport. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Apr 2012]

SRR1 domain containing

Predicted to be involved in regulation of circadian rhythm and regulation of heme biosynthetic process. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

sorbin and SH3 domain containing 1

This gene encodes a CBL-associated protein which functions in the signaling and stimulation of insulin. Mutations in this gene may be associated with human disorders of insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

sorbin and SH3 domain containing 3

This gene encodes an SH3 domain-containing adaptor protein. The presence of SH3 domains play a role in this protein's ability to bind other cytoplasmic molecules and contribute to cystoskeletal organization, cell adhesion and migration, signaling, and gene expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

sorbin and SH3 domain containing 2

Arg and c-Abl represent the mammalian members of the Abelson family of non-receptor protein-tyrosine kinases. They interact with the Arg/Abl binding proteins via the SH3 domains present in the carboxy end of the latter group of proteins. This gene encodes the sorbin and SH3 domain containing 2 protein. It has three C-terminal SH3 domains and an N-terminal sorbin homology (SoHo) domain that interacts with lipid raft proteins. The subcellular localization of this protein in epithelial and cardiac muscle cells suggests that it functions as an adapter protein to assemble signaling complexes in stress fibers, and that it is a potential link between Abl family kinases and the actin cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

zinc finger and SCAN domain containing 5C, pseudogene

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger, SWIM-type containing 5 pseudogene 3

zinc finger, SWIM-type containing 5 pseudogene 2

zinc finger, SWIM-type containing 5 pseudogene 1

coiled-coil domain containing 70

Located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

coiled-coil domain containing 71

coiled-coil domain containing 78

Involved in de novo centriole assembly involved in multi-ciliated epithelial cell differentiation and skeletal muscle contraction. Located in several cellular components, including centriole; deuterosome; and sarcolemma. Implicated in centronuclear myopathy 4. [provided by Alliance of Genome Resources, Mar 2025]

coiled-coil domain containing 79

Predicted to be involved in homologous chromosome pairing at meiosis and meiotic attachment of telomere to nuclear envelope. Predicted to act upstream of or within double-strand break repair involved in meiotic recombination. Predicted to be located in nuclear inner membrane and shelterin complex. Implicated in spermatogenic failure 60. [provided by Alliance of Genome Resources, Mar 2025]

TatD DNase domain containing 2 pseudogene 1

tripartite motif containing 60 pseudogene

zinc finger and BTB domain containing 7A

Enables several functions, including SMAD binding activity; nuclear androgen receptor binding activity; and transcription corepressor binding activity. Involved in several processes, including erythrocyte maturation; negative regulation of signal transduction; and regulation of nucleobase-containing compound metabolic process. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger and BTB domain containing 7C

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of cell population proliferation. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger and BTB domain containing 7B

This gene encodes a zinc finger-containing transcription factor that acts as a key regulator of lineage commitment of immature T-cell precursors. It is necessary and sufficient for commitment of CD4 lineage, while its absence causes CD8 commitment. It also functions as a transcriptional repressor of type I collagen genes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]

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]

ubiquitously transcribed tetratricopeptide repeat containing, Y-linked

This gene encodes a protein containing tetratricopeptide repeats which are thought to be involved in protein-protein interactions. The encoded protein is also a minor histocompatibility antigen which may induce graft rejection of male stem cell grafts. A large number of alternatively spliced transcripts have been observed for this gene, but the full length nature of some of these variants has not been determined. [provided by RefSeq, Apr 2012]

DENN/MADD domain containing 2C

Enables guanyl-nucleotide exchange factor activity. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

DENN/MADD domain containing 2D

Enables guanyl-nucleotide exchange factor activity. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger, CCHC domain containing 23

Predicted to enable nucleic acid binding activity and zinc ion binding activity. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger, CCHC domain containing 24

Enables RNA binding activity. [provided by Alliance of Genome Resources, Mar 2025]

ankyrin repeat and sterile alpha motif domain containing 1B

This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene. [provided by RefSeq, Aug 2011]

ankyrin repeat and sterile alpha motif domain containing 1A

Predicted to enable ephrin receptor binding activity. Predicted to be involved in ephrin receptor signaling pathway; neuron remodeling; and substrate-dependent cell migration. Predicted to act upstream of or within negative regulation of ubiquitin-dependent protein catabolic process and regulation of ephrin receptor signaling pathway. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger and BTB domain containing 14 pseudogene

armadillo repeat containing 10 pseudogene 1

SDA1 domain containing 1 pseudogene 1

SDA1 domain containing 1 pseudogene 2

SDA1 domain containing 1 pseudogene 3

coiled-coil domain containing 162, pseudogene

This gene is the ortholog of the mouse coiled-coil domain containing 162 gene. This locus is transcribed, but is represented as a unitary pseudogene because there are multiple changes in the coding sequence, including multiple changes that result in premature stop codons, relative to the mouse coding sequence. Transcripts from this locus are expected to encode truncated proteins, and may be candidates for nonsense-mediated decay (NMD). [provided by RefSeq, Sep 2018]

sterile alpha motif domain containing 4A

Sterile alpha motifs (SAMs) in proteins such as SAMD4A are part of an RNA-binding domain that functions as a posttranscriptional regulator by binding to an RNA sequence motif known as the Smaug recognition element, which was named after the Drosophila Smaug protein (Baez and Boccaccio, 2005 [PubMed 16221671]).[supplied by OMIM, Mar 2008]

sterile alpha motif domain containing 4B

Enables RNA binding activity. Predicted to be involved in nuclear-transcribed mRNA poly(A) tail shortening. Predicted to act upstream of or within cerebellar neuron development. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

cytidine and dCMP deaminase domain containing 1

Enables several functions, including cytidine deaminase activity; importin-alpha family protein binding activity; and protein homodimerization activity. Involved in DNA cytosine deamination and cytidine deamination. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

amine oxidase, copper containing 2 (retina-specific)

Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes and ammonia in the presence of copper and quinone cofactor. This gene shows high sequence similarity to copper amine oxidases from various species ranging from bacteria to mammals. The protein contains several conserved motifs including the active site of amine oxidases and the histidine residues that likely bind copper. It may be a critical modulator of signal transmission in retina, possibly by degrading the biogenic amines dopamine, histamine, and putrescine. This gene may be a candidate gene for hereditary ocular diseases. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

armadillo repeat containing 1 pseudogene

zinc finger, DHHC-type containing 3

Enables palmitoyltransferase activity. Involved in several processes, including protein localization to membrane; protein localization to photoreceptor outer segment; and regulation of signal transduction. Located in membrane. Is active in Golgi apparatus. [provided by Alliance of Genome Resources, Mar 2025]

glycosyltransferase 8 domain containing 2

Predicted to enable UDP-glycosyltransferase activity. Predicted to be located in membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Mar 2025]

glycosyltransferase 8 domain containing 1

This gene encodes a member of the glycosyltransferase family. The specific function of this protein has not been determined. Alternative splicing results in multiple transcript variants of this gene [provided by RefSeq, May 2013]

exonuclease 3'-5' domain containing 3

Predicted to enable 3'-5' exonuclease activity; metal ion binding activity; and nucleic acid binding activity. Predicted to be involved in nucleobase-containing compound metabolic process. [provided by Alliance of Genome Resources, Mar 2025]

exonuclease 3'-5' domain containing 2

Enables 3'-5' exonuclease activity; metal ion binding activity; and protein homodimerization activity. Involved in DNA double-strand break processing; double-strand break repair via homologous recombination; and replication fork processing. Located in intermediate filament cytoskeleton; mitochondrial outer membrane; and site of DNA damage. [provided by Alliance of Genome Resources, Mar 2025]

exonuclease 3'-5' domain containing 1

Predicted to enable RNA binding activity and protein homodimerization activity. Predicted to be involved in piRNA processing. Predicted to be located in P granule. Predicted to be part of PET complex. [provided by Alliance of Genome Resources, Mar 2025]

SPRY domain containing 3

SPRY domain containing 4

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

SPRY domain containing 7

kelch domain containing 4

kelch domain containing 2

Enables ubiquitin-like ligase-substrate adaptor activity. Involved in ubiquitin-dependent protein catabolic process via the C-end degron rule pathway. Located in nuclear body and nuclear membrane. Is active in Cul2-RING ubiquitin ligase complex and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

kelch domain containing 3

The protein encoded by this gene contains six repeated kelch motifs that are structurally similar to recombination activating gene 2, a protein involved in the activation of the V(D)J recombination. In mouse, this gene is found to be expressed specifically in testis. Its expression in pachytene spermatocytes is localized to cytoplasma and meiotic chromatin, suggesting that this gene may be involved in meiotic recombination. [provided by RefSeq, Jun 2012]

kelch domain containing 1

Enables ubiquitin-like ligase-substrate adaptor activity. Involved in ubiquitin-dependent protein catabolic process via the C-end degron rule pathway. Is active in Cul5-RING ubiquitin ligase complex and cytosol. [provided by Alliance of Genome Resources, Mar 2025]

tripartite motif-containing 51

Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in innate immune response and regulation of gene expression. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

HD domain containing 2

Predicted to enable 5'-deoxynucleotidase activity. [provided by Alliance of Genome Resources, Mar 2025]

HD domain containing 3

Predicted to enable guanosine-3',5'-bis(diphosphate) 3'-diphosphatase activity. [provided by Alliance of Genome Resources, Mar 2025]

tripartite motif containing 53A, pseudogene

WW domain containing oxidoreductase

This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) protein family. This gene spans the FRA16D common chromosomal fragile site and appears to function as a tumor suppressor gene. Expression of the encoded protein is able to induce apoptosis, while defects in this gene are associated with multiple types of cancer. Disruption of this gene is also associated with autosomal recessive spinocerebellar ataxia 12. Disruption of a similar gene in mouse results in impaired steroidogenesis, additionally suggesting a metabolic function for the protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

C3 and PZP-like, alpha-2-macroglobulin domain containing 8 pseudogene

OCIA domain containing 2 pseudogene 1

ankyrin repeat domain-containing protein 20A2-like

transmembrane and ubiquitin-like domain containing 1

Involved in ERAD pathway. Predicted to be located in several cellular components, including centrosome; postsynaptic membrane; and recycling endosome. Predicted to be active in postsynaptic recycling endosome membrane. [provided by Alliance of Genome Resources, Mar 2025]

transmembrane and ubiquitin-like domain containing 2

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

potassium channel tetramerization domain containing 9 pseudogene 6

RAD52 motif containing 1

This gene encodes a protein involved in the cellular response to cisplatin, a drug commonly used in chemotherapy. The protein encoded by this gene contains two motifs: a motif found in RAD52, a protein that functions in DNA double-strand breaks and homologous recombination, and an RNA recognition motif (RRM) that is not found in RAD52. The RAD52 motif region in RAD52 is important for protein function and may be involved in DNA binding or oligomerization. Alternatively spliced transcript variants encoding different isoforms have been reported. [provided by RefSeq, Jul 2008]

leucine rich repeat containing 3C pseudogene

patched domain containing 3 pseudogene 2

patched domain containing 3 pseudogene 3

patched domain containing 3 pseudogene 1

pleckstrin homology domain containing, family B (evectins) member 2 pseudogene

Tctex1 domain containing 2

Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains. This gene encodes a subunit of the human cytoplasmic dynein-2 complex. Mutations in this gene are associated with short-rib thoracic dysplasia 17 with or without polydactyly. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]

Tctex1 domain containing 1

Predicted to enable dynein intermediate chain binding activity. Predicted to be involved in microtubule-based movement. Predicted to be part of cytoplasmic dynein complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

low density lipoprotein receptor class A domain containing 1

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

low density lipoprotein receptor class A domain containing 2

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

low density lipoprotein receptor class A domain containing 3

Predicted to enable amyloid-beta binding activity. Predicted to be involved in receptor-mediated endocytosis. Predicted to act upstream of or within regulation of protein processing. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

chaperonin containing TCP1, subunit 4 (delta) pseudogene 2

potassium channel tetramerization domain containing 13

Enables identical protein binding activity and small GTPase binding activity. Contributes to ubiquitin-protein transferase activity. Involved in several processes, including negative regulation of Rho protein signal transduction; proteasome-mediated ubiquitin-dependent protein catabolic process; and stress fiber assembly. Located in nuclear body. Part of Cul3-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Mar 2025]

potassium channel tetramerization domain containing 12

Enables identical protein binding activity. Predicted to be involved in regulation of G protein-coupled receptor signaling pathway. Predicted to be located in cell projection; plasma membrane; and synapse. Predicted to be part of receptor complex. Predicted to be active in GABA-ergic synapse; postsynaptic membrane; and presynaptic active zone membrane. [provided by Alliance of Genome Resources, Mar 2025]

potassium channel tetramerization domain containing 10

The protein encoded by this gene binds proliferating cell nuclear antigen (PCNA) and may be involved in DNA synthesis and cell proliferation. In addition, the encoded protein may be a tumor suppressor. Several protein-coding and non-protein coding transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]

potassium channel tetramerization domain containing 17

This gene encodes a protein that belongs to a conserved family of potassium channel tetramerization domain (KCTD)-containing proteins. The encoded protein functions in ciliogenesis by acting as a substrate adaptor for the cullin3-based ubiquitin-conjugating enzyme E3 ligase, and targets trichoplein, a keratin-binding protein, for degradation via polyubiquitinylation. A mutation in this gene is associated with autosomal dominant myoclonic dystonia 26. [provided by RefSeq, Nov 2016]

potassium channel tetramerization domain containing 16

Predicted to enable G protein-coupled neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential; G protein-coupled neurotransmitter receptor activity involved in regulation of presynaptic membrane potential; and identical protein binding activity. Predicted to be involved in regulation of G protein-coupled receptor signaling pathway. Predicted to be located in cell projection; plasma membrane; and synapse. Predicted to be part of receptor complex. Predicted to be active in postsynaptic membrane and presynaptic membrane. [provided by Alliance of Genome Resources, Mar 2025]

potassium channel tetramerization domain containing 15

Enables identical protein binding activity. Predicted to be involved in negative regulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

potassium channel tetramerization domain containing 14

Predicted to be involved in protein homooligomerization. [provided by Alliance of Genome Resources, Mar 2025]

potassium channel tetramerization domain containing 19

Predicted to enable identical protein binding activity. Predicted to be involved in male meiotic nuclear division. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

potassium channel tetramerization domain containing 18

Predicted to enable identical protein binding activity. Predicted to be involved in monoatomic ion transmembrane transport and protein homooligomerization. [provided by Alliance of Genome Resources, Mar 2025]

PCI domain containing 2

This gene encodes a component of the TREX-2 complex (transcription and export complex 2), which regulates mRNA export from the nucleus. This protein regulates expression of Mad2 mitotic arrest deficient-like 1, a cell division checkpoint protein. This protein also interacts with and stabilizes Brca2 (breast cancer 2) protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

EF-hand and coiled-coil domain containing 1

Predicted to enable calcium ion binding activity. [provided by Alliance of Genome Resources, Mar 2025]

glyoxalase domain containing 4 pseudogene

salvador family WW domain containing protein 1 pseudogene

phenazine biosynthesis-like protein domain containing

Enables identical protein binding activity. Involved in maintenance of gastrointestinal epithelium. Acts upstream of or within with a positive effect on negative regulation of transforming growth factor beta receptor signaling pathway. Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ankyrin repeat and death domain containing 1A

Predicted to be involved in signal transduction. [provided by Alliance of Genome Resources, Mar 2025]

ankyrin repeat and death domain containing 1B

Predicted to be involved in signal transduction. [provided by Alliance of Genome Resources, Mar 2025]

replication termination factor 2 domain containing 1

Enables DNA binding activity. Involved in cellular response to hydroxyurea and regulation of DNA stability. Located in replication fork. [provided by Alliance of Genome Resources, Mar 2025]

PQ loop repeat containing 3

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

leucine rich repeat containing 25

Located in cytosol; endoplasmic reticulum; and microtubule cytoskeleton. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger, MYND-type containing 19 pseudogene 1

ring finger and FYVE-like domain containing E3 ubiquitin protein ligase

Enables enzyme binding activity; p53 binding activity; and ubiquitin protein ligase activity. Involved in several processes, including negative regulation of cysteine-type endopeptidase activity; negative regulation of signal transduction; and protein K48-linked ubiquitination. Located in endosome membrane and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

tripartite motif containing 9

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Its function has not been identified. Alternate splicing of this gene generates two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

tripartite motif containing 8

This gene encodes a member of the tripartite motif (TRIM) protein family. Based on similarities to other proteins, the encoded protein is suspected to be an E3 ubiquitin-protein ligase. Regulation of this gene may be altered in some cancers. Mutations resulting in a truncated protein product have been observed in early-onset epileptic encephalopathy (EOEE). [provided by RefSeq, Sep 2016]

tripartite motif containing 3

The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also called the 'RING-B-box-coiled-coil' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to cytoplasmic filaments. It is similar to a rat protein which is a specific partner for the tail domain of myosin V, a class of myosins which are involved in the targeted transport of organelles. The rat protein can also interact with alpha-actinin-4. Thus it is suggested that this human protein may play a role in myosin V-mediated cargo transport. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]

tripartite motif containing 2

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic filaments. It plays a neuroprotective role and functions as an E3-ubiquitin ligase in proteasome-mediated degradation of target proteins. Mutations in this gene can cause early-onset axonal neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

tripartite motif containing 5

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein forms homo-oligomers via the coilel-coil region and localizes to cytoplasmic bodies. It appears to function as a E3 ubiquitin-ligase and ubiqutinates itself to regulate its subcellular localization. It may play a role in retroviral restriction. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Dec 2009]

tripartite motif containing 4

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Its function has not been identified. Alternatively spliced transcript variants that encode different isoforms have been described.[provided by RefSeq, Jul 2010]

tripartite motif containing 7

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1, a B-box type 2, and a coiled-coil region. The protein localizes to both the nucleus and the cytoplasm, and may represent a participant in the initiation of glycogen synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

tripartite motif containing 6

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, B-box type 1 and B-box type 2 domain, and a coiled-coil region. The protein localizes to the nucleus, but its specific function has not been identified. This gene is mapped to chromosome 11p15, where it resides within a TRIM gene cluster. Alternative splicing results in multiple transcript variants. A read-through transcript from this gene into the downstream TRIM34 gene has also been observed, which results in a fusion product from these neighboring family members. [provided by RefSeq, Oct 2010]

DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae) pseudogene

coiled-coil domain containing 171

SH2 domain containing 1B

By binding phosphotyrosines through its free SRC (MIM 190090) homology-2 (SH2) domain, EAT2 regulates signal transduction through receptors expressed on the surface of antigen-presenting cells (Morra et al., 2001 [PubMed 11689425]).[supplied by OMIM, Mar 2008]

SH2 domain containing 1A

This gene encodes a protein that plays a major role in the bidirectional stimulation of T and B cells. This protein contains an SH2 domain and a short tail. It associates with the signaling lymphocyte-activation molecule, thereby acting as an inhibitor of this transmembrane protein by blocking the recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to its docking site. This protein can also bind to other related surface molecules that are expressed on activated T, B and NK cells, thereby modifying signal transduction pathways in these cells. Mutations in this gene cause lymphoproliferative syndrome X-linked type 1 or Duncan disease, a rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus, with symptoms including severe mononucleosis and malignant lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

leucine rich repeat containing 37, member A2

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

leucine rich repeat containing 37, member A3

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

cold shock domain containing C2, RNA binding

Predicted to enable mRNA 3'-UTR binding activity. Predicted to be involved in regulation of mRNA stability. Predicted to be located in nucleus. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

GTF2I repeat domain containing 1 pseudogene

LY6/PLAUR domain containing 4

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

LY6/PLAUR domain containing 5

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

LY6/PLAUR domain containing 2

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

LY6/PLAUR domain containing 3

Predicted to enable laminin binding activity. Involved in negative regulation of smooth muscle cell apoptotic process. Located in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

LY6/PLAUR domain containing 1

Predicted to enable acetylcholine receptor inhibitor activity. Predicted to be involved in acetylcholine receptor signaling pathway. Predicted to act upstream of or within several processes, including behavioral fear response; cholinergic synaptic transmission; and negative regulation of protein localization to plasma membrane. Predicted to be located in extracellular region and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

LY6/PLAUR domain containing 8

Predicted to be involved in defense response to Gram-negative bacterium. Predicted to be located in extracellular region and plasma membrane. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

fibronectin type III and SPRY domain containing 1-like

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

COMM domain-containing protein 5-like

zinc finger domain containing pseudogene

cytokine inducible SH2-containing protein

The protein encoded by this gene contains a SH2 domain and a SOCS box domain. The protein thus belongs to the cytokine-induced STAT inhibitor (CIS), also known as suppressor of cytokine signaling (SOCS) or STAT-induced STAT inhibitor (SSI), protein family. CIS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by IL2, IL3, GM-CSF and EPO in hematopoietic cells. Proteasome-mediated degradation of this protein has been shown to be involved in the inactivation of the erythropoietin receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

GTF2I repeat domain containing 1 pseudogene 1

retrotransposon gag domain containing 4

retrotransposon gag domain containing 1

endonuclease/exonuclease/phosphatase family domain containing 1

Predicted to enable DNA binding activity and catalytic activity. Involved in positive regulation of cholesterol efflux. Located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

sclerostin domain containing 1

This gene is a member of the sclerostin family and encodes an N-glycosylated, secreted protein with a C-terminal cystine knot-like domain. This protein functions as a bone morphogenetic protein (BMP) antagonist. Specifically, it directly associates with BMPs, prohibiting them from binding their receptors, thereby regulating BMP signaling during cellular proliferation, differentiation, and programmed cell death. [provided by RefSeq, Jul 2008]

putative ankyrin repeat domain-containing protein 30B-like

KRIT1, ankyrin repeat containing

This gene encodes a protein containing four ankyrin repeats, a band 4.1/ezrin/radixin/moesin (FERM) domain, and multiple NPXY sequences. The encoded protein is localized in the nucleus and cytoplasm. It binds to integrin cytoplasmic domain-associated protein-1 alpha (ICAP1alpha), and plays a critical role in beta1-integrin-mediated cell proliferation. It associates with junction proteins and RAS-related protein 1A (Rap1A), which requires the encoded protein for maintaining the integrity of endothelial junctions. It is also a microtubule-associated protein and may play a role in microtubule targeting. Mutations in this gene result in cerebral cavernous malformations. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]

TraB domain containing 2A

Enables Wnt-protein binding activity and metalloendopeptidase activity. Involved in negative regulation of Wnt signaling pathway and proteolysis. Located in organelle membrane and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TraB domain containing 2B

Enables Wnt-protein binding activity and metalloendopeptidase activity. Involved in several processes, including negative regulation of Wnt signaling pathway; positive regulation of protein oxidation; and positive regulation of protein-containing complex assembly. Located in organelle membrane and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

cysteine-rich, DPF motif domain containing 1

ankyrin repeat domain-containing protein 33B-like

WW domain containing E3 ubiquitin protein ligase 2

This gene encodes a member of the Nedd4 family of E3 ligases, which play an important role in protein ubiquitination. The encoded protein contains four WW domains and may play a role in multiple processes including chondrogenesis and the regulation of oncogenic signaling pathways via interactions with Smad proteins and the tumor suppressor PTEN. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 10. [provided by RefSeq, Jul 2012]

WW domain containing E3 ubiquitin protein ligase 1

WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein which contains 4 tandem WW domains and a HECT (homologous to the E6-associated protein carboxyl terminus) domain. The encoded protein belongs to a family of NEDD4-like proteins, which are E3 ubiquitin-ligase molecules and regulate key trafficking decisions, including targeting of proteins to proteosomes or lysosomes. Alternative splicing of this gene generates at least 6 transcript variants; however, the full length nature of these transcripts has not been defined. [provided by RefSeq, Jul 2008]

acidic repeat containing

Enables SUMO polymer binding activity. Involved in protein-DNA covalent cross-linking repair. Located in PML body. Implicated in X-linked spermatogenic failure 4. [provided by Alliance of Genome Resources, Mar 2025]

GATA zinc finger domain containing 1

The protein encoded by this gene contains a zinc finger at the N-terminus, and is thought to bind to a histone modification site that regulates gene expression. Mutations in this gene have been associated with autosomal recessive dilated cardiomyopathy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]

leucine-rich repeat-containing protein 37A3 pseudogene

coiled-coil domain-containing protein 29-like

kelch domain containing 8A

This gene encodes a kelch domain-containing protein which is upregulated in cancer. Upregulated expression of the encoded protein may provide an alternative pathway for tumors to maintain aggressiveness in the absence of epidermal growth factor receptor dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing

This gene encodes a member of the CARMIL (capping protein, Arp2/3, myosin-I linker) family of proteins. The encoded protein interacts with and negatively regulates the heterodimeric capping protein and promotes cell migration. Reduced expression of this gene has been observed in human psoriasis patients. Mutations in this gene cause a human immunodeficiency syndrome characterized by smooth muscle tumors and impaired T-cell function. [provided by RefSeq, May 2017]

UBA domain containing 2

Involved in negative regulation of canonical Wnt signaling pathway and negative regulation of retrograde protein transport, ER to cytosol. Acts upstream of or within protein localization to endoplasmic reticulum. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025]

UBA domain containing 1

Enables polyubiquitin modification-dependent protein binding activity and proteasome binding activity. Involved in protein maturation and protein ubiquitination. Located in Golgi apparatus; cytosol; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

tripartite motif containing 60 pseudogene

coiled-coil domain containing 176 pseudogene

rhomboid domain containing 2

The protein encoded by this gene is a member of the rhomboid family of membrane-bound proteases and is overexpressed in some breast cancers. Members of this family are involved in intramembrane proteolysis. In mouse, the orthologous protein associates with the Golgi body. [provided by RefSeq, Sep 2016]

rhomboid domain containing 3

Predicted to enable serine-type endopeptidase activity. Predicted to act upstream of or within several processes, including MAPK cascade; negative regulation of natural killer cell activation; and positive regulation of protein catabolic process. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

rhomboid domain containing 1

Enables serine-type endopeptidase activity. Involved in several processes, including cellular response to unfolded protein; membrane protein proteolysis; and positive regulation of protein catabolic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025]

coiled-coil-helix-coiled-coil-helix domain containing 2

The protein encoded by this gene belongs to a class of eukaryotic CX(9)C proteins characterized by four cysteine residues spaced ten amino acids apart from one another. These residues form disulfide linkages that define a CHCH fold. In response to stress, the protein translocates from the mitochondrial intermembrane space to the nucleus where it binds to a highly conserved 13 nucleotide oxygen responsive element in the promoter of cytochrome oxidase 4I2, a subunit of the terminal enzyme of the electron transport chain. In concert with recombination signal sequence-binding protein J, binding of this protein activates the oxygen responsive element at four percent oxygen. In addition, it has been shown that this protein is a negative regulator of mitochondria-mediated apoptosis. In response to apoptotic stimuli, mitochondrial levels of this protein decrease, allowing BCL2-associated X protein to oligomerize and activate the caspase cascade. Pseudogenes of this gene are found on multiple chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

coiled-coil-helix-coiled-coil-helix domain containing 3

The protein encoded by this gene is an inner mitochondrial membrane scaffold protein. Absence of the encoded protein affects the structural integrity of mitochondrial cristae and leads to reductions in ATP production, cell growth, and oxygen consumption. This protein is part of the mitochondrial contact site and cristae organizing system (MICOS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

coiled-coil-helix-coiled-coil-helix domain containing 6

Involved in DNA damage response and cristae formation. Located in cytosol and mitochondrial inner membrane. Part of MICOS complex. [provided by Alliance of Genome Resources, Mar 2025]

coiled-coil-helix-coiled-coil-helix domain containing 7

Predicted to be involved in mitochondrial respiratory chain complex assembly. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

coiled-coil-helix-coiled-coil-helix domain containing 4

CHCHD4, a component of human mitochondria, belongs to a protein family whose members share 6 highly conserved cysteine residues constituting a -CXC-CX(9)C-CX(9)C- motif in the C terminus (Hofmann et al., 2005 [PubMed 16185709]).[supplied by OMIM, Mar 2008]

coiled-coil-helix-coiled-coil-helix domain containing 5

Predicted to be involved in cellular respiration. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

transmembrane and tetratricopeptide repeat containing 2

The protein encoded by this gene is an integral membrane protein localized to the endoplasmic reticulum (ER). The encoded protein contains many tetratricopeptide repeats, sequences known for being involved in protein-protein interactions. This protein binds both the calcium uptake pump SERCA2B and the carbohydrate-binding chaperone calnexin, and it appears to play a role in calcium homeostasis in the ER. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

tripartite motif containing 49D1 pseudogene

xin actin binding repeat containing 1

The protein encoded by this gene is a striated muscle protein and belongs to the Xin actin-binding repeat-containing protein (XIRP) family. The protein functions to protect actin filaments during depolymerization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]

xin actin binding repeat containing 2

Enables actin filament binding activity. Predicted to be involved in actin filament organization and regulation of actin filament organization. Predicted to act upstream of or within cardiac muscle tissue morphogenesis; cell-cell junction organization; and ventricular septum development. Located in focal adhesion and stress fiber. Implicated in depressive disorder. [provided by Alliance of Genome Resources, Mar 2025]

SPHK1 interactor, AKAP domain containing

Enables protein kinase A binding activity. Predicted to be located in Z disc. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

CASP2 and RIPK1 domain containing adaptor with death domain

This gene encodes a protein containing a death domain (DD) motif. This protein recruits caspase 2/ICH1 to the cell death signal transduction complex, which includes tumor necrosis factor receptor 1 (TNFR1A) and RIPK1/RIP kinase, and acts in promoting apoptosis. A mutation in this gene was associated with cognitive disability. A related pseudogene is found on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

IQ motif containing with AAA domain 1

The protein encoded by this gene is a member of the ATPases Associated with diverse cellular Activities (AAA) superfamily. Members of this superfamily, found in all organisms, participate in a large number of cellular processes and contain the ATPase module consisting of an alpha-beta-alpha core domain and the Walker A and B motifs of the P-loop NTPases. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]

LYR motif containing 5

Involved in respiratory electron transport chain. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

glycerophosphodiester phosphodiesterase domain containing 2

This gene encodes a member of the glycerophosphodiester phosphodiesterase enzyme family. The encoded protein hydrolyzes glycerophosphoinositol to produce inositol 1-phosphate and glycerol. This protein may have a role in osteoblast differentiation and growth. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]

glycerophosphodiester phosphodiesterase domain containing 3

Enables phosphoric diester hydrolase activity. Involved in N-acylethanolamine metabolic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025]

glycerophosphodiester phosphodiesterase domain containing 4

Predicted to enable glycerophosphodiester phosphodiesterase activity. Predicted to be involved in lipid metabolic process. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Mar 2025]

glycerophosphodiester phosphodiesterase domain containing 5

Predicted to enable glycerophosphodiester phosphodiesterase activity. Predicted to be involved in negative regulation of Notch signaling pathway; positive regulation of cell cycle; and positive regulation of neuron differentiation. Predicted to act upstream of or within neuron differentiation and regulation of timing of cell differentiation. Predicted to be located in axon; neuronal cell body; and perinuclear endoplasmic reticulum. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

Rho-associated, coiled-coil containing protein kinase 1

This gene encodes a protein serine/threonine kinase that is activated when bound to the GTP-bound form of Rho. The small GTPase Rho regulates formation of focal adhesions and stress fibers of fibroblasts, as well as adhesion and aggregation of platelets and lymphocytes by shuttling between the inactive GDP-bound form and the active GTP-bound form. Rho is also essential in cytokinesis and plays a role in transcriptional activation by serum response factor. This protein, a downstream effector of Rho, phosphorylates and activates LIM kinase, which in turn, phosphorylates cofilin, inhibiting its actin-depolymerizing activity. A pseudogene, related to this gene, is also located on chromosome 18. [provided by RefSeq, Aug 2015]

Rho-associated, coiled-coil containing protein kinase 2

The protein encoded by this gene is a serine/threonine kinase that regulates cytokinesis, smooth muscle contraction, the formation of actin stress fibers and focal adhesions, and the activation of the c-fos serum response element. This protein, which is an isozyme of ROCK1 is a target for the small GTPase Rho. [provided by RefSeq, Jul 2008]

leucine rich repeat containing 9

Predicted to enable U2 snRNA binding activity. Predicted to be involved in mRNA splicing, via spliceosome. Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

leucine rich repeat containing 4

Predicted to be involved in modulation of chemical synaptic transmission and synapse organization. Predicted to act upstream of or within synapse organization. Predicted to be located in dendritic spine; excitatory synapse; and postsynaptic membrane. Predicted to be active in Schaffer collateral - CA1 synapse; glutamatergic synapse; and postsynaptic density membrane. [provided by Alliance of Genome Resources, Mar 2025]

leucine rich repeat containing 6

The protein encoded by this gene contains several leucine-rich repeat domains and appears to be involved in the motility of cilia. Defects in this gene are a cause of primary ciliary dyskinesia-19 (CILD19). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4, 11 and 22. [provided by RefSeq, Apr 2016]

leucine rich repeat containing 7

Predicted to enable protein kinase binding activity. Predicted to be involved in several processes, including establishment or maintenance of epithelial cell apical/basal polarity; protein localization to postsynapse; and receptor clustering. Located in several cellular components, including centrosome; cytosol; and nucleoplasm. Implicated in cocaine dependence. [provided by Alliance of Genome Resources, Mar 2025]

leucine rich repeat containing 1

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

leucine rich repeat containing 3

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

MORN repeat containing 5

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

MORN repeat containing 4

Predicted to be involved in response to axon injury. Located in cytoplasm and filopodium tip. [provided by Alliance of Genome Resources, Mar 2025]

MORN repeat containing 1

thiosulfate sulfurtransferase (rhodanese)-like domain containing 1 pseudogene

coiled-coil domain containing 107 pseudogene

HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1

This gene encodes a HECT domain and ankyrin repeat-containing ubiquitin ligase. The encoded protein is involved in specific tagging of target proteins, leading to their subcellular localization or proteasomal degradation. The protein is a potential tumor suppressor and is involved in the pathophysiology of several tumors, including Wilm's tumor. [provided by RefSeq, Mar 2016]

PC-esterase domain containing 1C, pseudogene

5'-nucleotidase domain containing 4

Predicted to enable 5'-nucleotidase activity. [provided by Alliance of Genome Resources, Mar 2025]

5'-nucleotidase domain containing 2

Predicted to enable 5'-nucleotidase activity. Predicted to be involved in negative regulation of dopamine biosynthetic process; negative regulation of oxidoreductase activity; and negative regulation of peptidyl-serine phosphorylation. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

5'-nucleotidase domain containing 1

While the exact function of the protein encoded by this gene is not known, it belongs to the 5'(3')-deoxyribonucleotidase family. [provided by RefSeq, May 2010]

RUN and SH3 domain containing 2

This gene encodes a RUN and SH3 domain containing protein that interacts with Rab1b and Rab1-binding protein GM130. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jun 2012]

RUN and SH3 domain containing 1

Predicted to enable actin binding activity. Involved in protein polyubiquitination. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

leucine zipper and CTNNBIP1 domain containing

Predicted to enable beta-catenin binding activity. [provided by Alliance of Genome Resources, Mar 2025]

tripartite motif containing 60 pseudogene 7, Y-linked

BEN domain containing 3 pseudogene 3

BEN domain containing 3 pseudogene 2

kelch repeat and BTB (POZ) domain containing 7

The protein encoded by this gene is a transcriptional activator, having been shown to increase the transcription of activator protein-1 and serum response element. The encoded protein can also form a complex with KBTBD6 and CUL3, which regulates the ubiquitylation and degradation of TIAM1, which is a regulator of RAC1. [provided by RefSeq, Jul 2016]

kelch repeat and BTB (POZ) domain containing 4

kelch repeat and BTB (POZ) domain containing 3

Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Predicted to be part of Cul3-RING ubiquitin ligase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

kelch repeat and BTB (POZ) domain containing 2

Enables ubiquitin-like ligase-substrate adaptor activity. Involved in protein K48-linked ubiquitination and regulation of cellular response to insulin stimulus. Is active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

kelch repeat and BTB (POZ) domain containing 8

Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Involved in neural crest cell development; neural crest formation; and protein monoubiquitination. Part of Cul3-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Mar 2025]

flavin containing monooxygenase 9 pseudogene

zinc finger CCCH-type containing 12A

ZC3H12A is an MCP1 (CCL2; MIM 158105)-induced protein that acts as a transcriptional activator and causes cell death of cardiomyocytes, possibly via induction of genes associated with apoptosis.[supplied by OMIM, Mar 2008]

zinc finger CCCH-type containing 12B

The protein encoded by this gene belongs to a family of CCCH-type zinc finger proteins that are involved in the proinflammatory activation of macrophages. The exact function of this family member is unknown, but it is thought to function as a ribonuclease. [provided by RefSeq, May 2010]

zinc finger CCCH-type containing 12C

Predicted to enable RNA endonuclease activity and mRNA binding activity. Predicted to be active in cytoplasmic ribonucleoprotein granule and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger CCCH-type containing 12D

Predicted to enable RNA endonuclease activity and mRNA binding activity. Involved in negative regulation of G1/S transition of mitotic cell cycle and negative regulation of cell growth. Located in P-body and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ankyrin repeat domain-containing protein 20A2-like

coiled-coil domain-containing protein 29-like

zinc finger, FYVE domain containing 21

Predicted to enable metal ion binding activity. Predicted to be located in endosome and focal adhesion. [provided by Alliance of Genome Resources, Mar 2025]

ankyrin repeat domain-containing protein 33B-like

RWD domain containing 2A

RWD domain containing 2B

UBA-like domain containing 1

UBA-like domain containing 2

beta-transducin repeat containing E3 ubiquitin protein ligase pseudogene 1

BRO1 domain and CAAX motif containing

Involved in mitotic nuclear membrane reassembly. Located in nuclear envelope. [provided by Alliance of Genome Resources, Mar 2025]

NRDE-2, necessary for RNA interference, domain containing

Involved in several processes, including RNA splicing; mRNA stabilization; and positive regulation of RNA export from nucleus. Located in nuclear speck and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

sterile alpha motif and leucine zipper containing kinase AZK

This gene is a member of the MAPKKK family of signal transduction molecules and encodes a protein with an N-terminal kinase catalytic domain, followed by a leucine zipper motif and a sterile-alpha motif (SAM). This magnesium-binding protein forms homodimers and is located in the cytoplasm. The protein mediates gamma radiation signaling leading to cell cycle arrest and activity of this protein plays a role in cell cycle checkpoint regulation in cells. The protein also has pro-apoptotic activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

coiled-coil domain containing 29-like

SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)

Enables DNA binding activity; histone binding activity; and histone chaperone activity. Involved in heterochromatin formation; nucleosome assembly; and regulation of DNA-templated transcription. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

CAS1 domain containing 1

Enables N-acetylneuraminate 7-O(or 9-O)-acetyltransferase activity. Involved in carbohydrate metabolic process. Located in Golgi membrane. [provided by Alliance of Genome Resources, Mar 2025]

V-set and transmembrane domain containing 5

Predicted to be involved in several processes, including filopodium assembly; positive regulation of excitatory synapse assembly; and protein homooligomerization. Predicted to be located in membrane. Predicted to be active in axon; dendrite; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

V-set and transmembrane domain containing 4

Predicted to act upstream of or within several processes, including endothelial cell proliferation; retina blood vessel maintenance; and vasculature development. Predicted to be located in extracellular region and plasma membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Mar 2025]

V-set and transmembrane domain containing 1

Predicted to enable cytokine activity. Predicted to be involved in immune response-regulating signaling pathway. Predicted to be located in extracellular space and membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

tripartite motif containing 43C, pseudogene

PPPDE peptidase domain containing 1 pseudogene

zinc finger and BTB domain containing 45 pseudogene 2

zinc finger and BTB domain containing 45 pseudogene 1

HECT and RLD domain containing E3 ubiquitin protein ligase family member 1

This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012]

HECT and RLD domain containing E3 ubiquitin protein ligase 3

This gene encodes a member the HERC ubiquitin ligase family. The encoded protein is located in the cytosol and binds ubiquitin via a HECT domain. Mutations in this gene have been associated with colorectal and gastric carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]

HECT and RLD domain containing E3 ubiquitin protein ligase 2

This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]

HECT and RLD domain containing E3 ubiquitin protein ligase 5

This gene is a member of the HERC family of ubiquitin ligases and encodes a protein with a HECT domain and five RCC1 repeats. Pro-inflammatory cytokines upregulate expression of this gene in endothelial cells. The protein localizes to the cytoplasm and perinuclear region and functions as an interferon-induced E3 protein ligase that mediates ISGylation of protein targets. The protein also acts as a modulator of the antiviral immune response. The gene lies in a cluster of HERC family genes on chromosome 4. [provided by RefSeq, Aug 2021]

HECT and RLD domain containing E3 ubiquitin protein ligase 4

HERC4 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008]

HECT and RLD domain containing E3 ubiquitin protein ligase family member 6

HERC6 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008]

TBCC domain containing 1

Involved in several processes, including maintenance of Golgi location; maintenance of centrosome location; and regulation of cell shape. Located in spindle pole centrosome. [provided by Alliance of Genome Resources, Mar 2025]

pleckstrin homology domain containing, family F (with FYVE domain) member 1

Enables phosphatidylinositol-3-phosphate binding activity; phosphatidylinositol-4-phosphate binding activity; and phosphatidylinositol-5-phosphate binding activity. Involved in endosome organization; positive regulation of autophagy; and protein localization to plasma membrane. Located in endosome and lysosome. [provided by Alliance of Genome Resources, Mar 2025]

pleckstrin homology domain containing, family F (with FYVE domain) member 2

Predicted to enable phosphatidylinositol binding activity. Predicted to be involved in endosome organization and endosome to lysosome transport. Located in transport vesicle. [provided by Alliance of Genome Resources, Mar 2025]

ankyrin repeat and MYND domain containing 1

Predicted to enable metal ion binding activity. [provided by Alliance of Genome Resources, Mar 2025]

ankyrin repeat and MYND domain containing 2

Predicted to enable enzyme binding activity and metal ion binding activity. Predicted to be located in cilium. [provided by Alliance of Genome Resources, Mar 2025]

putative ankyrin repeat domain-containing protein 20A12 pseudogene

sterile alpha motif domain containing 5

Predicted to be involved in regulation of intracellular signal transduction. Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

sterile alpha motif domain containing 7

Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific; chromatin binding activity; and histone binding activity. Predicted to be involved in negative regulation of DNA-templated transcription; negative regulation of gene expression, epigenetic; and retinal rod cell development. Predicted to be located in cytoplasm. Predicted to be part of PRC1 complex. Predicted to be active in nucleus. Implicated in macular degeneration. [provided by Alliance of Genome Resources, Mar 2025]

sterile alpha motif domain containing 1

Enables chromatin binding activity. Involved in negative regulation of transcription initiation-coupled chromatin remodeling and protein homooligomerization. Is active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

sterile alpha motif domain containing 3

sterile alpha motif domain containing 8

Predicted to enable ceramide cholinephosphotransferase activity and sphingomyelin synthase activity. Involved in ceramide biosynthetic process and regulation of ceramide biosynthetic process. Located in cytosol and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Mar 2025]

sterile alpha motif domain containing 9

This gene encodes a sterile alpha motif domain-containing protein. The encoded protein localizes to the cytoplasm and may play a role in regulating cell proliferation and apoptosis. Mutations in this gene are the cause of normophosphatemic familial tumoral calcinosis. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Jul 2010]

leucine rich repeat containing 18

Predicted to enable protein serine/threonine phosphatase activity. Predicted to be involved in intracellular signal transduction. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

leucine rich repeat containing 19

Predicted to enable signaling receptor activity. Acts upstream of or within positive regulation of non-canonical NF-kappaB signal transduction. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

leucine rich repeat containing 17

Predicted to be involved in bone marrow development and negative regulation of osteoclast differentiation. Predicted to be located in extracellular region. Predicted to be active in extracellular matrix and extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

leucine rich repeat containing 14

This gene encodes a leucine-rich repeat-containing protein. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

leucine rich repeat containing 15

Enables several functions, including fibronectin binding activity; laminin binding activity; and protein sequestering activity. Involved in several processes, including negative regulation of protein localization to plasma membrane; negative regulation of viral entry into host cell; and receptor-mediated virion attachment to host cell. Located in collagen-containing extracellular matrix and plasma membrane. Is active in apical plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

leucine rich repeat containing 10

Predicted to enable actin binding activity. Predicted to be involved in cardiac muscle cell development. Predicted to be located in mitochondrion; myofibril; and nucleus. Predicted to be active in cytoskeleton and sarcomere. [provided by Alliance of Genome Resources, Mar 2025]

coiled-coil domain containing 101

CCDC101 is a subunit of 2 histone acetyltransferase complexes: the ADA2A (TADA2A; MIM 602276)-containing (ATAC) complex and the SPT3 (SUPT3H; MIM 602947)-TAF9 (MIM 600822)-GCN5 (KAT2A; MIM 602301)/PCAF (KAT2B; MIM 602303) acetylase (STAGA) complex. Both of these complexes contain either GCN5 or PCAF, which are paralogous acetyltransferases (Wang et al., 2008 [PubMed 18838386]).[supplied by OMIM, Apr 2010]

fumarylacetoacetate hydrolase domain containing 2B

Enables oxaloacetate tautomerase activity. Involved in oxaloacetate metabolic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

fumarylacetoacetate hydrolase domain containing 2A

Enables oxaloacetate tautomerase activity. Involved in oxaloacetate metabolic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

coiled-coil domain containing 105

Predicted to be involved in flagellated sperm motility. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

coiled-coil domain containing 107

This gene encodes a membrane protein which contains a coiled-coil domain in the central region. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]

coiled-coil domain containing 106

Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

coiled-coil domain containing 108

The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. The chicken ortholog of this gene is involved in the Rose-comb mutation, which is a large chromosome inversion, resulting in altered comb morphology and defects in sperm motility. [provided by RefSeq, Aug 2016]

penta-EF-hand domain containing 1

This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. The encoded protein has been shown to form a heterodimer with the programmed cell death 6 gene product and may modulate its function in Ca(2+) signaling. Alternative splicing results in multiple transcript variants and a pseudogene has been identified on chromosome 1.[provided by RefSeq, May 2010]

alanine and arginine rich domain containing protein

Predicted to act upstream of or within response to testosterone. [provided by Alliance of Genome Resources, Mar 2025]

transmembrane and tetratricopeptide repeat containing 1 pseudogene

fumarylacetoacetate hydrolase domain containing 1

Enables hydrolase activity, acting on acid carbon-carbon bonds, in ketonic substances; oxaloacetate decarboxylase activity; and oxaloacetate tautomerase activity. Involved in oxaloacetate metabolic process. Located in cytosol; mitochondrion; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin-like domain containing receptor 2

Involved in negative regulation of T cell activation. Predicted to be located in tight junction. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin-like domain containing receptor 1

This gene encodes a protein that contains an immunoglobulin-like domain. The encoded protein may function as a multimeric receptor at the cell surface. The expression of this gene may be a diagnostic marker for cancer progression. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

Parkinson disease 7 domain containing 1

Predicted to enable glyoxalase III activity. Predicted to be involved in methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

tripartite motif containing 60 pseudogene 16

tripartite motif containing 60 pseudogene 17

tripartite motif containing 60 pseudogene 18

tripartite motif containing 60 pseudogene 19

ribosomal L1 domain-containing protein 1-like

sprouty-related, EVH1 domain containing 1

The protein encoded by this gene is a member of the Sprouty family of proteins and is phosphorylated by tyrosine kinase in response to several growth factors. The encoded protein can act as a homodimer or as a heterodimer with SPRED2 to regulate activation of the MAP kinase cascade. Defects in this gene are a cause of neurofibromatosis type 1-like syndrome (NFLS). [provided by RefSeq, Jul 2008]

sprouty-related, EVH1 domain containing 2

SPRED2 is a member of the Sprouty (see SPRY1; MIM 602465)/SPRED family of proteins that regulate growth factor-induced activation of the MAP kinase cascade (see MAPK1; MIM 176948) (Nonami et al., 2004 [PubMed 15465815]).[supplied by OMIM, Mar 2008]

sprouty-related, EVH1 domain containing 3

This gene encodes a protein with a C-terminal Sprouty-like cysteine-rich domain (SRY) and an N-terminal Ena/Vasodilator-stimulated phosphoprotein (VASP) homology-1 (EVH-1) domain. The encoded protein is a member of a family of proteins that negatively regulates mitogen-activated protein (MAP) kinase signaling, particularly during organogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]

cysteine-rich secretory protein LCCL domain containing 2

Predicted to enable glycosaminoglycan binding activity. Involved in face morphogenesis. Located in transport vesicle. [provided by Alliance of Genome Resources, Mar 2025]

cysteine-rich secretory protein LCCL domain containing 1

Involved in face morphogenesis. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

MAM domain containing glycosylphosphatidylinositol anchor 1

This gene encodes a glycosylphosphatidylinositol (GPI)-anchored cell surface glycoprotein that is expressed predominantly in the developing nervous system. In addition to possessing several cell adhesion molecule-like domains, the mature protein has six Ig-like domains, a single fibronectin type III domain, a MAM domain and a C-terminal GPI-anchoring site. Studies in other mammals suggest this protein plays a role in cell adhesion, migration, and axon guidance and, in the developing brain, neuronal migration. In humans, this gene is associated with bipolar disorder and schizophrenia. [provided by RefSeq, Oct 2016]

MAM domain containing glycosylphosphatidylinositol anchor 2

Predicted to be involved in regulation of synapse organization and spinal cord motor neuron differentiation. Predicted to act upstream of or within several processes, including motor behavior; negative regulation of neuron apoptotic process; and neuron migration. Predicted to be located in extracellular region and plasma membrane. Predicted to be active in GABA-ergic synapse; glutamatergic synapse; and postsynaptic density membrane. [provided by Alliance of Genome Resources, Mar 2025]

DDRGK domain containing 1

The protein encoded by this gene interacts with components of the ubiquitin fold modifier 1 conjugation pathway and helps prevent apoptosis in ER-stressed secretory tissues. In addition, the encoded protein regulates nuclear factor-κB activity. [provided by RefSeq, Dec 2015]

major facilitator superfamily domain containing 10

This gene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein likely functions in efflux of organic anions, including the non-steroidal anti-inflammatory drugs indomethacin and diclofenac. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]

PR domain containing 5

The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. [provided by RefSeq, Jul 2008]

KH homology domain containing 1

Predicted to enable identical protein binding activity and poly(U) RNA binding activity. Predicted to be located in membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

DALR anticodon binding domain containing 3

The exact function of this gene is not known. It encodes a protein with a DALR anticodon binding domain similar to that of class Ia aminoacyl tRNA synthetases. This gene is located in a cluster of genes (with a complex sense-anti-sense genome architecture) on chromosome 3, and contains two micro RNA (miRNA) precursors (mir-425 and mir-191) in one of its introns. Preferential expression of this gene (the miRNAs and other genes in the cluster) in testis suggests a role of this gene in spermatogenesis (PMID:19906709). [provided by RefSeq, Feb 2013]

inverted formin, FH2 and WH2 domain containing

This gene represents a member of the formin family of proteins. It is considered a diaphanous formin due to the presence of a diaphanous inhibitory domain located at the N-terminus of the encoded protein. Studies of a similar mouse protein indicate that the protein encoded by this locus may function in polymerization and depolymerization of actin filaments. Mutations at this locus have been associated with focal segmental glomerulosclerosis 5.[provided by RefSeq, Aug 2010]

coiled-coil-helix-coiled-coil-helix domain containing 10

This gene encodes a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or oxidative phosphorylation. Mutations in this gene cause frontotemporal dementia and/or amyotrophic lateral sclerosis-2. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7 and 19. [provided by RefSeq, Aug 2014]

cyclin N-terminal domain containing 1

Predicted to be involved in reciprocal meiotic recombination and regulation of meiotic cell cycle. Predicted to act upstream of or within spermatogenesis. Predicted to be located in chromosome. Predicted to be active in site of double-strand break. [provided by Alliance of Genome Resources, Mar 2025]

cyclin N-terminal domain containing 2

Predicted to enable cyclin-dependent protein serine/threonine kinase regulator activity. Predicted to be involved in G1/S transition of mitotic cell cycle. Located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

doublecortin domain containing 2B

This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. [provided by RefSeq, Sep 2010]

doublecortin domain containing 2C

Predicted to be involved in intracellular signal transduction. Located in cytoplasm and sperm flagellum. [provided by Alliance of Genome Resources, Mar 2025]

PR domain containing 9

The protein encoded by this gene is a zinc finger protein with histone methyltransferase activity that catalyzes histone H3 lysine 4 trimethylation (H3K4me3) during meiotic prophase. This protein contains multiple domains, including a Kruppel-associated box (KRAB) domain, an SSX repression domain (SSXRD), a PRD1-BF1 and RIZ homologous region, a subclass of SET (PR/SET) domain, and a tandem array of C2H2 zinc fingers. The zinc finger array recognizes a short sequence motif, leading to local H3K4me3, and meiotic recombination hotspot activity. The observed allelic variation alters the DNA-binding sequence specificity of the protein, resulting in distinct meiotic recombination hotspots amongst individuals and populations. Multiple alternate alleles of this gene have been described. [provided by RefSeq, Jul 2015]

coiled-coil domain-containing protein 144A-like

BTB (POZ) domain containing 7 pseudogene 1

PDZ domain containing ring finger 4

Predicted to enable metal ion binding activity. [provided by Alliance of Genome Resources, Mar 2025]

PDZ domain containing ring finger 3

This gene encodes a member of the LNX (Ligand of Numb Protein-X) family of RING-type ubiquitin E3 ligases. This protein may function in vascular morphogenesis and the differentiation of adipocytes, osteoblasts and myoblasts. This protein may be targeted for degradation by the human papilloma virus E6 protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

PRELI domain-containing protein 1, mitochondrial pseudogene

DENN/MADD domain containing 1C

The protein encoded by this gene functions as a guanine nucleotide exchange factor for the early endosomal small GTPase RAB35, which regulates endosomal membrane trafficking and is involved in actin polymerization. The encoded protein activates RAB35 by promoting the exchange of RAB35-bound GDP for GTP. This gene may play a role in linking RAB35 activation with the clathrin machinery. [provided by RefSeq, May 2017]

DENN/MADD domain containing 1B

Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1B, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]

DENN/MADD domain containing 1A

Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1A, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]

zinc finger, CCHC domain containing 12

This gene encodes a downstream effector of bone morphogenetic protein (BMP) signalling. This protein contains a zinc finger domain and functions as a transcriptional coactivator. Variation in this gene may be associated with X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

zinc finger, CCHC domain containing 11

Enables RNA uridylyltransferase activity. Involved in RNA metabolic process; stem cell population maintenance; and transposable element silencing by mRNA destabilization. Located in cytoplasmic ribonucleoprotein granule; cytosol; and nucleolus. Implicated in liver benign neoplasm. Biomarker of breast cancer. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger, CCHC domain containing 10

Predicted to enable nucleic acid binding activity and zinc ion binding activity. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger, CCHC domain containing 17

Enables identical protein binding activity. Predicted to be involved in RNA stabilization. Predicted to be located in nucleolus. Predicted to be part of cytosolic large ribosomal subunit. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger, CCHC domain containing 16

Predicted to enable nucleic acid binding activity and zinc ion binding activity. Predicted to act upstream of or within cognition and norepinephrine metabolic process. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger, CCHC domain containing 14

Predicted to enable nucleic acid binding activity; phosphatidylinositol binding activity; and zinc ion binding activity. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger, CCHC domain containing 18

Predicted to enable metal ion binding activity. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ankyrin repeat and sterile alpha motif domain containing 4B

Involved in brush border assembly; protein localization to microvillus; and protein-containing complex assembly. Located in brush border and microvillus. [provided by Alliance of Genome Resources, Mar 2025]

inositol monophosphatase domain containing 1

This gene encodes a member of the inositol monophosphatase family. The encoded protein is localized to the Golgi apparatus and catalyzes the hydrolysis of phosphoadenosine phosphate (PAP) to adenosine monophosphate (AMP). Mutations in this gene are a cause of GRAPP type chondrodysplasia with joint dislocations, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, Dec 2011]

ankyrin repeat domain-containing protein SOWAHC-like

CENPB DNA-binding domains containing 1

Predicted to enable DNA binding activity. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

tripartite motif-containing 51E, pseudogene

coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 10

coiled-coil domain containing 77

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

coiled-coil domain containing 73

zinc finger, CCHC domain containing 7 pseudogene

region containing immunoglobulin superfamily, member 6 and DREV1

THAP domain containing, apoptosis associated protein 1

The protein encoded by this gene contains a THAP domain, a conserved DNA-binding domain. This protein colocalizes with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies, and functions as a proapoptotic factor that links PAWR to PML nuclear bodies. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

SNW domain containing 1

This gene, a member of the SNW gene family, encodes a coactivator that enhances transcription from some Pol II promoters. This coactivator can bind to the ligand-binding domain of the vitamin D receptor and to retinoid receptors to enhance vitamin D-, retinoic acid-, estrogen-, and glucocorticoid-mediated gene expression. It can also function as a splicing factor by interacting with poly(A)-binding protein 2 to directly control the expression of muscle-specific genes at the transcriptional level. Finally, the protein may be involved in oncogenesis since it interacts with a region of SKI oncoproteins that is required for transforming activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

OCIA domain containing 2

Predicted to be involved in endocytosis; hematopoietic stem cell homeostasis; and positive regulation of receptor signaling pathway via JAK-STAT. Predicted to act upstream of or within response to bacterium. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

OCIA domain containing 1

Predicted to be involved in several processes, including hematopoietic stem cell homeostasis; positive regulation of receptor signaling pathway via JAK-STAT; and regulation of stem cell differentiation. Located in membrane and mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

tripartite motif containing 78, pseudogene

putative SCAN domain-containing protein SCAND2P

abhydrolase domain containing 12B

Predicted to enable lysophospholipase activity and monoacylglycerol lipase activity. Predicted to be involved in monoacylglycerol catabolic process and phosphatidylserine catabolic process. Predicted to be active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger, DHHC-type containing 20

Enables protein-cysteine S-palmitoyltransferase activity and zinc ion binding activity. Involved in peptidyl-L-cysteine S-palmitoylation and positive regulation by host of viral process. Located in Golgi membrane and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger, DHHC-type containing 21

Enables palmitoyltransferase activity. Involved in peptidyl-L-cysteine S-palmitoylation. Located in Golgi apparatus and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger, DHHC-type containing 22

Predicted to enable protein-cysteine S-palmitoyltransferase activity. Involved in protein localization to plasma membrane and protein palmitoylation. Located in Golgi apparatus; endoplasmic reticulum; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger, DHHC-type containing 23

Predicted to enable protein-cysteine S-palmitoyltransferase activity. Involved in protein localization to plasma membrane and protein palmitoylation. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus and endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger, DHHC-type containing 24

Predicted to enable protein-cysteine S-palmitoyltransferase activity. Predicted to be involved in protein targeting to membrane. Predicted to be located in membrane. Predicted to be active in Golgi apparatus and endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025]

von Willebrand factor A domain containing 8

Predicted to enable ATP hydrolysis activity. Located in mitochondrion and peroxisome. [provided by Alliance of Genome Resources, Mar 2025]

von Willebrand factor A domain containing 7

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

von Willebrand factor A domain containing 2

This gene encodes a member of the von Willebrand factor A-like domain protein superfamily. The encoded protein is localized to the extracellular matrix and may serve as a structural component in basement membranes or in anchoring structures on scaffolds of collagen VII or fibrillin. This gene has been linked to type 1A diabetes and is a candidate serological marker for colon cancer. [provided by RefSeq, Jan 2013]

von Willebrand factor A domain containing 1

VWA1 belongs to the von Willebrand factor (VWF; MIM 613160) A (VWFA) domain superfamily of extracellular matrix proteins and appears to play a role in cartilage structure and function (Fitzgerald et al., 2002 [PubMed 12062410]).[supplied by OMIM, Nov 2010]

immunoglobulin superfamily containing leucine-rich repeat

Predicted to be involved in cell adhesion. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

trypsin domain containing 1

This gene encodes a protease that removes the N-terminal peroxisomal targeting signal (PTS2) from proteins produced in the cytosol, thereby facilitating their import into the peroxisome. The encoded protein is also capable of removing the C-terminal peroxisomal targeting signal (PTS1) from proteins in the peroxisomal matrix. The full-length protein undergoes self-cleavage to produce shorter, potentially inactive, peptides. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013]

transcription elongation factor A (SII) N-terminal and central domain containing 2

Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

sortilin-related VPS10 domain containing receptor 1

This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

sortilin-related VPS10 domain containing receptor 2

This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008]

sortilin-related VPS10 domain containing receptor 3

This gene encodes a type-I receptor transmembrane protein that is a member of the vacuolar protein sorting 10 receptor family. Proteins of this family are defined by a vacuolar protein sorting 10 domain at the N-terminus. The N-terminal segment of this domain has a consensus motif for proprotein convertase processing, and the C-terminal segment of this domain is characterized by ten conserved cysteine residues. The vacuolar protein sorting 10 domain is followed by a leucine-rich segment, a transmembrane domain, and a short C-terminal cytoplasmic domain that interacts with adaptor molecules. The transcript is expressed at high levels in the brain, and candidate gene studies suggest that genetic variation in this gene is associated with Alzheimer's disease. Consistent with this observation, knockdown of the gene in cell culture results in an increase in amyloid precursor protein processing. [provided by RefSeq, Dec 2014]

von Willebrand factor A domain containing 3B

This gene encodes an intracellular protein that contains a von Willebrand factor type A domain. Intracellular proteins with VWA domains are thought to function in transcription, DNA repair, ribosomal and membrane transport and the proteasome. Mutations in this gene are associated with Spinocerebellar ataxia, autosomal recessive 22. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2017]

von Willebrand factor A domain containing 3A

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

pleckstrin homology domain containing, family N member 1

Enables phospholipid binding activity. Involved in 3'-UTR-mediated mRNA destabilization; positive regulation of apoptotic process; and response to hypoxia. Located in cytoskeleton and mitochondrial membrane. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger, C3HC-type containing 1

This gene encodes an F-box-containing protein that is a component of an SCF-type E3 ubiquitin ligase complex that regulates the onset of cell division. The G2/M transition in the cell cycle requires the interaction of the proteins cyclin B1 and cyclin-dependent kinase 1. The activated ubiquitin ligase complex targets the protein cyclin B1 for degradation, preventing this transition to mitosis. [provided by RefSeq, Aug 2013]

FAD-dependent oxidoreductase domain containing 2

Enables flavin adenine dinucleotide binding activity. Involved in ERAD pathway. Located in endoplasmic reticulum lumen. [provided by Alliance of Genome Resources, Mar 2025]

FAD-dependent oxidoreductase domain containing 1

This gene encodes a protein that contains a FAD-dependent oxidoreductase domain. The encoded protein is localized to the mitochondria and may function as a chaperone protein required for the function of mitochondrial complex I. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]

TM2 domain containing 3 pseudogene

mbt domain containing 1

Enables NuA4 histone acetyltransferase complex binding activity and methylated histone binding activity. Involved in double-strand break repair via homologous recombination; positive regulation of double-strand break repair via homologous recombination; and regulation of cell cycle. Part of NuA4 histone acetyltransferase complex and nucleosome. Is active in site of double-strand break. [provided by Alliance of Genome Resources, Mar 2025]

coiled-coil domain containing 179

coiled-coil domain containing 181

Predicted to enable microtubule binding activity. Predicted to be located in manchette and sperm flagellum. [provided by Alliance of Genome Resources, Mar 2025]

coiled-coil domain containing 180

The protein encoded by this gene contains a coiled-coil domain. Alternative splicing results in multiple transcript variants encoding different isoforms. A single nucleotide polymorphism (SNP) in this gene has been associated with increased susceptibility to Behcet's Disease (PMID: 19442274). [provided by RefSeq, Dec 2016]

coiled-coil domain containing 183

coiled-coil domain containing 182

Predicted to be involved in female gonad development. [provided by Alliance of Genome Resources, Mar 2025]

coiled-coil domain containing 185

coiled-coil domain containing 184

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

coiled-coil domain containing 186

Predicted to enable small GTPase binding activity. Predicted to be involved in vesicle cytoskeletal trafficking. Predicted to act upstream of or within insulin secretion involved in cellular response to glucose stimulus and response to bacterium. Predicted to be located in Golgi apparatus. Predicted to be active in trans-Golgi network. [provided by Alliance of Genome Resources, Mar 2025]

DDHD domain containing 2

This gene encodes a phospholipase enzyme containing sterile-alpha-motif (SAM), WWE, and DDHD domains. This protein participates in membrane trafficking between the endoplastic reticulum and the Golgi body. Mutations in this gene can cause autosomal recessive spastic paraplegia 54. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

coiled-coil domain containing 86 pseudogene

zinc finger and BTB domain containing 10 pseudogene

RWD domain-containing protein 2B pseudogene

ankyrin-repeat and fibronectin type III domain containing 1

Predicted to be involved in establishment of mitotic spindle orientation and regulation of establishment of bipolar cell polarity. Predicted to act upstream of or within behavioral fear response; equilibrioception; and locomotor rhythm. Predicted to be active in spindle. [provided by Alliance of Genome Resources, Mar 2025]

tectonin beta-propeller repeat containing 1

This gene encodes a tethering factor involved in autophagy. The encoded protein is found at autolysosomes, and is involved in targeting protein aggregates, damaged mitochondria, and bacterial pathogens for autophagy [provided by RefSeq, Nov 2012]

tectonin beta-propeller repeat containing 2

The protein encoded by this gene is a member of the tectonin beta-propeller repeat-containing (TECPR) family, and contains both TECPR and tryptophan-aspartic acid repeat (WD repeat) domains. This gene has been implicated in autophagy, as reduced expression levels of this gene have been associated with impaired autophagy. Recessive mutations in this gene have been associated with a hereditary form of spastic paraparesis (HSP). HSP is characterized by progressive spasticity and paralysis of the legs. There is also some evidence linking mutations in this gene with birdshot chorioretinopathy (BSCR), which results in inflammation of the choroid and retina. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

claudin domain containing 1

Located in cell surface. [provided by Alliance of Genome Resources, Mar 2025]

claudin domain containing 2

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

BAH domain and coiled-coil containing 1

Predicted to enable chromatin binding activity. Predicted to act upstream of or within chromatin organization; locomotory behavior; and neuron differentiation. [provided by Alliance of Genome Resources, Mar 2025]

DENN/MADD domain containing 2A

Enables guanyl-nucleotide exchange factor activity. Involved in retrograde transport, endosome to Golgi. Located in actin cytoskeleton. [provided by Alliance of Genome Resources, Mar 2025]

WW and C2 domain containing 2

This gene encodes a member of the WW-and-C2-domain-containing family of proteins. Members of this family have two N-terminal WW domains that mediate binding to target proteins harboring L/PPxY motifs, an internal C2 domain for membrane association, and C-terminal alpha protein kinase C binding sites and class III PDZ domain-interaction motifs. Proteins of this family are able to form homo- and heterodimers and to modulate hippo pathway signaling. [provided by RefSeq, Sep 2016]

C2 calcium-dependent domain containing 4A

Involved in positive regulation of acute inflammatory response; regulation of cell adhesion; and regulation of vascular permeability involved in acute inflammatory response. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

C2 calcium-dependent domain containing 4B

Involved in positive regulation of acute inflammatory response; regulation of cell adhesion; and regulation of vascular permeability involved in acute inflammatory response. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

C2 calcium-dependent domain containing 4C

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

C2 calcium-dependent domain containing 4D

potassium channel tetramerization domain containing 5 pseudogene

zinc finger CCCH-type containing 6

Predicted to enable RNA binding activity and metal ion binding activity. Predicted to be involved in negative regulation of DNA-templated transcription. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

transmembrane BAX inhibitor motif containing 6

Enables endoribonuclease inhibitor activity and ubiquitin protein ligase binding activity. Involved in several processes, including negative regulation of intrinsic apoptotic signaling pathway; negative regulation of macromolecule metabolic process; and response to L-glutamate. Acts upstream of or within negative regulation of calcium ion transport into cytosol. Located in endoplasmic reticulum membrane. Biomarker of cervical squamous cell carcinoma and prostate carcinoma. [provided by Alliance of Genome Resources, Mar 2025]

transmembrane BAX inhibitor motif containing 4

Predicted to enable calcium channel activity. Involved in negative regulation of apoptotic process and regulation of calcium-mediated signaling. Located in Golgi stack and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Mar 2025]

transmembrane BAX inhibitor motif containing 1

Enables death receptor binding activity. Involved in negative regulation of Fas signaling pathway; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors; and negative regulation of protein localization to plasma membrane. Located in Golgi membrane; endosome membrane; and lysosomal membrane. [provided by Alliance of Genome Resources, Mar 2025]

Myb/SANT-like DNA-binding domain containing 2 pseudogene 1

nucleus accumbens associated 1, BEN and BTB (POZ) domain containing pseudogene

pleckstrin homology domain containing, family A member 3 pseudogene 1

coiled-coil domain containing 23

Enables microtubule binding activity and peptidase activator activity. Involved in axon development; proteolysis; and regulation of metallopeptidase activity. Acts upstream of or within negative regulation of endothelial cell migration; negative regulation of protein ubiquitination; and protein secretion. Located in apical part of cell. [provided by Alliance of Genome Resources, Mar 2025]

coiled-coil domain containing 22

This gene encodes a protein containing a coiled-coil domain. The encoded protein functions in the regulation of NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells) by interacting with COMMD (copper metabolism Murr1 domain-containing) proteins. The mouse orthologous protein has been shown to bind copines, which are calcium-dependent, membrane-binding proteins that may function in calcium signaling. This human gene has been identified as a novel candidate gene for syndromic X-linked intellectual disability. [provided by RefSeq, Aug 2013]

coiled-coil domain containing 25

Enables DNA binding activity. Involved in positive regulation of cell motility. Located in endomembrane system and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

coiled-coil domain containing 24

Predicted to act upstream of or within blastocyst hatching. [provided by Alliance of Genome Resources, Mar 2025]

coiled-coil domain containing 27

potassium channel tetramerization domain containing 20

Predicted to enable identical protein binding activity. Predicted to be involved in positive regulation of phosphorylation and signal transduction. Predicted to be located in membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

potassium channel tetramerization domain containing 21

Enables cullin family protein binding activity; histone deacetylase binding activity; and identical protein binding activity. Involved in negative regulation of smoothened signaling pathway and ubiquitin-dependent protein catabolic process. [provided by Alliance of Genome Resources, Mar 2025]

coiled-coil domain-containing protein 29-like

pumilio domain-containing protein KIAA0020-like

tripartite motif containing 59

Predicted to enable ubiquitin protein ligase activity. Acts upstream of or within negative regulation of canonical NF-kappaB signal transduction. Predicted to be located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025]

tripartite motif containing 58

Predicted to enable protein homodimerization activity; protein kinase binding activity; and ubiquitin protein ligase activity. Predicted to be involved in several processes, including positive regulation of autophagy; positive regulation of canonical NF-kappaB signal transduction; and regulation of viral entry into host cell. Predicted to be active in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

tripartite motif containing 55

The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. This protein associates transiently with microtubules, myosin, and titin during muscle sarcomere assembly. It may act as a transient adaptor and plays a regulatory role in the assembly of sarcomeres. Four alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

tripartite motif containing 54

The protein encoded by this gene contains a RING finger motif and is highly similar to the ring finger proteins RNF28/MURF1 and RNF29/MURF2. In vitro studies demonstrated that this protein, RNF28, and RNF29 form heterodimers, which may be important for the regulation of titin kinase and microtubule-dependent signal pathways in striated muscles. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

tripartite motif containing 56

Enables ubiquitin protein ligase activity. Involved in defense response to virus; positive regulation of signal transduction; and protein monoubiquitination. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

tripartite motif containing 50

Enables identical protein binding activity. Predicted to be involved in innate immune response. Predicted to act upstream of or within regulation of establishment of protein localization. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

tripartite motif containing 52

Enables transcription coactivator activity and ubiquitin protein ligase activity. Involved in several processes, including positive regulation of NF-kappaB transcription factor activity; positive regulation of canonical NF-kappaB signal transduction; and protein autoubiquitination. Located in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

coiled-coil domain containing 53 pseudogene

mastermind-like domain containing 1

This gene encodes a mastermind-like domain containing protein. This protein may function as a transcriptional co-activator. Mutations in this gene are the cause of X-linked hypospadias type 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]

leucine-rich repeat-containing protein 37B-like

sterile alpha and TIR motif containing 1

Enables NAD+ nucleosidase activity; NAD+ nucleotidase, cyclic ADP-ribose generating; and identical protein binding activity. Involved in NAD catabolic process and response to axon injury. Is active in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

kelch domain containing 10

Enables ubiquitin-like ligase-substrate adaptor activity. Involved in rescue of stalled ribosome and ubiquitin-dependent protein catabolic process via the C-end degron rule pathway. Located in nucleoplasm. Is active in Cul2-RING ubiquitin ligase complex and cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

churchill domain containing 1

Predicted to enable zinc ion binding activity. Predicted to be involved in fibroblast growth factor receptor signaling pathway. [provided by Alliance of Genome Resources, Mar 2025]

COMM domain containing 10

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

zinc finger, DHHC-type containing 20 pseudogene 3

SH2 domain containing 4A

Enables phosphatase binding activity. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

SH2 domain containing 4B

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

transmembrane emp24 protein transport domain containing 7

Predicted to be involved in Golgi organization; endoplasmic reticulum to Golgi vesicle-mediated transport; and intracellular protein transport. Located in Golgi apparatus; endoplasmic reticulum; and endoplasmic reticulum-Golgi intermediate compartment. [provided by Alliance of Genome Resources, Mar 2025]

transmembrane emp24 protein transport domain containing 6

Predicted to be involved in Golgi organization; endoplasmic reticulum to Golgi vesicle-mediated transport; and intracellular protein transport. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in several cellular components, including COPII-coated ER to Golgi transport vesicle; Golgi apparatus; and endoplasmic reticulum-Golgi intermediate compartment. [provided by Alliance of Genome Resources, Mar 2025]

transmembrane emp24 protein transport domain containing 5

Involved in Golgi ribbon formation. Located in cis-Golgi network; endoplasmic reticulum exit site; and endoplasmic reticulum-Golgi intermediate compartment. [provided by Alliance of Genome Resources, Mar 2025]

transmembrane emp24 protein transport domain containing 4

Involved in positive regulation of canonical NF-kappaB signal transduction. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in several cellular components, including COPII-coated ER to Golgi transport vesicle; Golgi apparatus; and endoplasmic reticulum-Golgi intermediate compartment. [provided by Alliance of Genome Resources, Mar 2025]

transmembrane emp24 protein transport domain containing 3

Predicted to be involved in Golgi organization; endoplasmic reticulum to Golgi vesicle-mediated transport; and intracellular protein transport. Located in Golgi apparatus; endoplasmic reticulum; and endoplasmic reticulum-Golgi intermediate compartment. [provided by Alliance of Genome Resources, Mar 2025]

transmembrane emp24 protein transport domain containing 1

This gene belongs to the TMED (transmembrane emp24 domain-containing) protein family, which is involved in the vesicular trafficking of proteins. The protein encoded by this gene was identified by its interaction with interleukin 1 receptor-like 1 (IL1RL1) and may play a role in innate immunity. This protein lacks any similarity to other interleukin 1 ligands. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

transmembrane emp24 protein transport domain containing 9

This gene is a member of a family of genes encoding transport proteins located in the endoplasmic reticulum and the Golgi. A similar gene in mouse is the target of microRNA miR-296, which is part of an imprinted cluster. [provided by RefSeq, Jul 2016]

transmembrane emp24 protein transport domain containing 8

EGF-like and EMI domain containing 1, pseudogene

Predicted to enable scavenger receptor activity. Predicted to be involved in vesicle-mediated transport. [provided by Alliance of Genome Resources, Mar 2025]

HECT and RLD domain containing E3 ubiquitin protein ligase 2 pseudogene

hexokinase domain containing 1

This gene encodes a member of the hexokinase protein family. The encoded protein is involved in glucose metabolism, and reduced expression may be associated with gestational diabetes mellitus. High expression of this gene may also be associated with poor prognosis in hepatocarcinoma. [provided by RefSeq, Sep 2016]

major facilitator superfamily domain containing 11

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

major facilitator superfamily domain containing 12

Enables cysteine transmembrane transporter activity. Involved in cysteine transmembrane transport; pigment metabolic process involved in pigmentation; and regulation of melanin biosynthetic process. Located in lysosome and melanosome. Part of late endosome. [provided by Alliance of Genome Resources, Mar 2025]

patatin-like phospholipase domain containing 4 pseudogene 1

ATPase family, AAA domain containing 5

Enables DNA clamp unloader activity. Involved in positive regulation of DNA replication and positive regulation of cell cycle G2/M phase transition. Part of Elg1 RFC-like complex. Biomarker of neurilemmoma. [provided by Alliance of Genome Resources, Mar 2025]

ATPase family, AAA domain containing 1

Predicted to enable ATP hydrolysis activity. Involved in extraction of mislocalized protein from mitochondrial outer membrane. Located in mitochondrial outer membrane and peroxisomal membrane. Implicated in hyperekplexia 4. [provided by Alliance of Genome Resources, Mar 2025]

ATPase family, AAA domain containing 2

A large family of ATPases has been described, whose key feature is that they share a conserved region of about 220 amino acids that contains an ATP-binding site. The proteins that belong to this family either contain one or two AAA (ATPases Associated with diverse cellular Activities) domains. AAA family proteins often perform chaperone-like functions that assist in the assembly, operation, or disassembly of protein complexes. The protein encoded by this gene contains two AAA domains, as well as a bromodomain. [provided by RefSeq, Jul 2008]

ELM2 and Myb/SANT-like domain containing 1

Predicted to enable transcription corepressor activity. Predicted to be involved in negative regulation of DNA-templated transcription and regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

AKNA domain containing 1

This gene encodes a protein which contains a domain found in an AT-hook-containing transcription factor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]

carbohydrate kinase domain containing

Enables ATP-dependent NAD(P)H-hydrate dehydratase activity. Predicted to be involved in metabolite repair. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

NIPA-like domain containing 1

Predicted to enable magnesium ion transmembrane transporter activity. Predicted to be involved in magnesium ion transport. Predicted to be located in Golgi apparatus. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Mar 2025]

NIPA-like domain containing 2

Predicted to enable magnesium ion transmembrane transporter activity. Predicted to be involved in magnesium ion transport. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Mar 2025]

NIPA-like domain containing 3

Predicted to enable magnesium ion transmembrane transporter activity. Predicted to be involved in magnesium ion transport. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Mar 2025]

NIPA-like domain containing 4

This gene likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis. [provided by RefSeq, Feb 2010]

yrdC N(6)-threonylcarbamoyltransferase domain containing

Enables L-threonylcarbamoyladenylate synthase. Involved in tRNA threonylcarbamoyladenosine modification. Acts upstream of or within negative regulation of transport. Is active in mitochondrion. Implicated in Galloway-Mowat syndrome. [provided by Alliance of Genome Resources, Mar 2025]

chitinase domain containing 1

Enables oligosaccharide binding activity. Involved in negative regulation of cytokine production involved in inflammatory response. Located in several cellular components, including late endosome; lysosome; and trans-Golgi network. [provided by Alliance of Genome Resources, Mar 2025]

AT hook containing transcription factor 1

Predicted to enable DNA binding activity. Involved in nuclear pore complex assembly and regulation of cytokinesis. Located in chromosome; nuclear body; and nuclear envelope. Part of nuclear envelope. [provided by Alliance of Genome Resources, Mar 2025]

KxDL motif containing 1

Involved in lysosome localization. Part of BORC complex. [provided by Alliance of Genome Resources, Mar 2025]

ankyrin repeat and BTB (POZ) domain containing 1

This gene encodes a protein with an ankyrin repeat region and two BTB/POZ domains, which are thought to be involved in protein-protein interactions. Expression of this gene is activated by the phosphatase and tensin homolog, a tumor suppressor. Alternate splicing results in three transcript variants. [provided by RefSeq, Mar 2010]

ankyrin repeat and BTB (POZ) domain containing 2

Predicted to enable protein heterodimerization activity. Predicted to act upstream of or within cellular response to toxic substance. [provided by Alliance of Genome Resources, Mar 2025]

patatin-like phospholipase domain containing 4 pseudogene 1

suppressor APC domain containing 2 pseudogene 4

suppressor APC domain containing 2 pseudogene 1

suppressor APC domain containing 2 pseudogene 3

suppressor APC domain containing 2 pseudogene 2

pleckstrin homology domain-containing family A member 7-like

glycosyltransferase 1 domain containing 1

Predicted to enable glycosyltransferase activity. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

tudor domain containing 12

Predicted to enable several functions, including ATP binding activity; ATP hydrolysis activity; and ATP-dependent activity, acting on DNA. Predicted to be involved in several processes, including germ-line stem cell division; male meiotic nuclear division; and regulatory ncRNA-mediated gene silencing. Predicted to be part of PET complex. [provided by Alliance of Genome Resources, Mar 2025]

tudor domain containing 10

Predicted to enable RNA binding activity. [provided by Alliance of Genome Resources, Mar 2025]

tudor domain containing 15

bromodomain containing 7 pseudogene 1

bromodomain containing 7 pseudogene 3

bromodomain containing 7 pseudogene 2

bromodomain containing 7 pseudogene 5

bromodomain containing 7 pseudogene 4

bromodomain containing 7 pseudogene 6

RanBP-type and C3HC4-type zinc finger containing 1

Enables several functions, including protein sequestering activity; transcription coactivator activity; and ubiquitin binding activity. Involved in several processes, including positive regulation of canonical NF-kappaB signal transduction; protein linear polyubiquitination; and regulation of DNA-binding transcription factor activity. Part of LUBAC complex. Implicated in glycogen storage disease. [provided by Alliance of Genome Resources, Mar 2025]

FERM and PDZ domain-containing protein 2-like

MPN domain containing

Predicted to enable metallopeptidase activity and polyubiquitin modification-dependent protein binding activity. Predicted to be involved in double-strand break repair. Predicted to be part of BRCA1-A complex and BRISC complex. [provided by Alliance of Genome Resources, Mar 2025]

PDZ domain containing 1 pseudogene 1

Predicted to enable protein-membrane adaptor activity and signaling receptor binding activity. Predicted to be involved in protein localization to plasma membrane. Predicted to be active in apical plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

bromodomain and WD repeat domain containing 3

The protein encoded by this gene contains a bromodomain and several WD repeats. It is thought to have a chromatin-modifying function, and may thus play a role in transcription. Mutations in this gene are associated with a spectrum of cognitive disabilities and X-linked macrocephaly. This gene is also associated with translocations in patients with B-cell chronic lymphocytic leukemia. [provided by RefSeq, Jul 2017]

bromodomain and WD repeat domain containing 1

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) residues which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 2 bromodomains and multiple WD repeats. This gene is located within the Down syndrome region-2 on chromosome 21. Alternative splicing of this gene generates multiple transcript variants encoding distinct isoforms. In mouse, this gene encodes a nuclear protein that has a polyglutamine-containing region that functions as a transcriptional activation domain which may regulate chromatin remodelling and associates with a component of the SWI/SNF chromatin remodelling complex.[provided by RefSeq, Jun 2011]

pyridoxal-dependent decarboxylase domain containing 1

Enables cadherin binding activity. Predicted to be involved in carboxylic acid metabolic process. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Mar 2025]

BPI fold containing family B, member 3

Predicted to enable lipid binding activity. Predicted to be involved in innate immune response. Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

BPI fold containing family B, member 2

This gene encodes a member of the lipid transfer/lipopolysaccharide binding protein (LT/LBP) gene family. It is highly expressed in hypertrophic tonsils. This gene and three other members of the LT/LBP gene family form a cluster on the long arm of chromosome 20. [provided by RefSeq, Jul 2008]

BPI fold containing family B, member 1

The protein encoded by this gene may be involved in the innate immune response to bacterial exposure in the mouth, nasal cavities, and lungs. The encoded protein is secreted and is a member of the BPI/LBP/PLUNC protein superfamily. This gene is found with other members of the superfamily in a cluster on chromosome 20. [provided by RefSeq, Jul 2008]

BPI fold containing family B, member 6

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

BPI fold containing family B, member 4

Predicted to enable lipid binding activity. Located in actin cytoskeleton and cytosol. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger and SCAN domain containing 18

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger and SCAN domain containing 10

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in negative regulation of DNA-templated transcription and regulation of transcription by RNA polymerase II. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger and SCAN domain containing 12

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger and SCAN domain containing 16

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

SUZ RNA binding domain containing 1 pseudogene

NmrA-like family domain containing 1

This gene encodes an NADPH sensor protein that preferentially binds to NADPH. The encoded protein also negatively regulates the activity of NF-kappaB in a ubiquitylation-dependent manner. It plays a key role in cellular antiviral response by negatively regulating the interferon response factor 3-mediated expression of interferon beta. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]

leucine rich repeat containing 37, member A4, pseudogene

chaperonin containing TCP1, subunit 8 (theta) pseudogene 1

leucine-rich repeats and IQ motif containing 3

tripartite motif containing 60 pseudogene

IQ motif containing with AAA domain 1 like

Predicted to enable ATP hydrolysis activity and microtubule severing ATPase activity. Predicted to be involved in microtubule cytoskeleton organization. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger and BTB domain containing 8A

Enables several functions, including DNA-binding transcription repressor activity, RNA polymerase II-specific; RNA polymerase II-specific DNA-binding transcription factor binding activity; and transcription coactivator binding activity. Involved in negative regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger and BTB domain containing 8B

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

HORMA domain containing 1 pseudogene

DDHD domain containing 1

This gene is a member of the intracellular phospholipase A1 gene family. The protein encoded by this gene preferentially hydrolyzes phosphatidic acid. It is a cytosolic protein with some mitochondrial localization, and is thought to be involved in the regulation of mitochondrial dynamics. Overexpression of this gene causes fragmentation of the tubular structures in mitochondria, while depletion of the gene results in mitochondrial tubule elongation. Deletion of this gene in male mice caused fertility defects, resulting from disruption in the organization of the mitochondria during spermiogenesis. In humans, mutations in this gene have been associated with hereditary spastic paraplegia (HSP), also known as Strumpell-Lorrain disease, or, familial spastic paraparesis (FSP). This inherited disorder is characterized by progressive weakness and spasticity of the legs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

FH2 domain containing 1

Predicted to enable actin binding activity and microtubule binding activity. Involved in Golgi ribbon formation; cilium assembly; and stress fiber assembly. Located in cilium and microtubule. [provided by Alliance of Genome Resources, Mar 2025]

alpha/beta hydrolase domain-containing protein 17A-like

zinc finger, MIZ-type containing 2

ZMIZ2 and ZMIZ1 (MIM 607159) are members of a PIAS (see MIM 603566)-like family of proteins that interact with nuclear hormone receptors. ZMIZ2 interacts with androgen receptor (AR; MIM 313700) and enhances AR-mediated transcription (Huang et al., 2005 [PubMed 16051670]).[supplied by OMIM, May 2010]

zinc finger, MIZ-type containing 1

This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also play a role in sumoylation. A translocation between this locus on chromosome 10 and the protein tyrosine kinase ABL1 locus on chromosome 9 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Mar 2010]

coiled-coil domain containing 58 pseudogene 1

regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 pseudogene 1

SDA1 domain containing 1 pseudogene 4

glyoxalase domain containing 5

This gene encodes a protein with a glyoxalase domain. [provided by RefSeq, Sep 2011]

glyoxalase domain containing 4

Enables cadherin binding activity. Located in extracellular exosome and mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger, BED-type containing 4

Enables identical protein binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Located in cytoplasm and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

sec1 family domain containing 1

Predicted to enable syntaxin binding activity. Involved in negative regulation of autophagosome assembly; regulation of protein transport; and response to toxic substance. Located in cis-Golgi network. [provided by Alliance of Genome Resources, Mar 2025]

sec1 family domain containing 2

Predicted to be involved in intracellular protein transport and vesicle-mediated transport. [provided by Alliance of Genome Resources, Mar 2025]

basic helix-loop-helix and HMG box domain containing 1

Predicted to enable DNA binding activity and protein dimerization activity. Predicted to be involved in several processes, including activation of meiosis; cellular response to retinoic acid; and regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

mbt domain containing 1 pseudogene

ankyrin repeat domain-containing protein ENSP00000383090-like

tripartite motif containing 43B

Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in innate immune response and regulation of gene expression. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

coiled-coil domain containing 74B

coiled-coil domain-containing protein 29-like

ankyrin repeat and SOCS box containing 9 pseudogene 1

alanyl-tRNA synthetase domain containing 1

Predicted to enable Ser-tRNA(Ala) hydrolase activity. Predicted to be involved in regulation of translational fidelity. Located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

WDYHV motif containing 1

Predicted to enable protein-N-terminal glutamine amidohydrolase activity. Predicted to be involved in protein modification process. Predicted to be located in cytoplasm. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

adipogenesis associated, Mth938 domain containing

Predicted to be involved in positive regulation of fat cell differentiation. Predicted to act upstream of or within negative regulation of apoptotic process and positive regulation of transcription by RNA polymerase II. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

BRCA1/BRCA2-containing complex, subunit 3 pseudogene 1

GATA zinc finger domain containing 2A

Enables protein-macromolecule adaptor activity. Involved in chromatin remodeling and negative regulation of DNA-templated transcription. Located in nucleoplasm. Part of NuRD complex. [provided by Alliance of Genome Resources, Mar 2025]

THAP domain containing 5 pseudogene 2

THAP domain containing 5 pseudogene 1

PIH1 domain containing 2

Enables small GTPase binding activity. Predicted to be involved in box C/D snoRNP assembly and rRNA processing. Part of protein folding chaperone complex. [provided by Alliance of Genome Resources, Mar 2025]

PIH1 domain containing 3

Enables dynein intermediate chain binding activity. Involved in flagellated sperm motility; inner dynein arm assembly; and outer dynein arm assembly. Located in trans-Golgi network. Implicated in primary ciliary dyskinesia 36. [provided by Alliance of Genome Resources, Mar 2025]

PIH1 domain containing 1

Enables several functions, including enzyme binding activity; histone reader activity; and phosphoprotein binding activity. Involved in several processes, including positive regulation of signal transduction; protein-containing complex assembly; and regulation of primary metabolic process. Located in cytoplasm and nucleolus. Part of R2TP complex; RPAP3/R2TP/prefoldin-like complex; and pre-snoRNP complex. [provided by Alliance of Genome Resources, Mar 2025]

ankyrin repeat domain-containing protein 36C-like

zinc finger, DHHC-type containing 11B

Predicted to enable protein-cysteine S-palmitoyltransferase activity. Predicted to be involved in several processes, including antiviral innate immune response; peptidyl-L-cysteine S-palmitoylation; and positive regulation of defense response to virus by host. Predicted to be located in endosome membrane. Predicted to be active in Golgi apparatus and endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025]

MAM domain containing 4

Predicted to enable protein histidine phosphatase activity. Predicted to be involved in peptidyl-histidine dephosphorylation. Predicted to be located in cytosol. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Mar 2025]

MAM domain containing 2

Predicted to enable glycosaminoglycan binding activity. Predicted to be involved in nervous system development. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025]

BPI fold containing family B, member 9, pseudogene

spectrin repeat containing, nuclear envelope 1

This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

spectrin repeat containing, nuclear envelope 2

The protein encoded by this gene is a nuclear outer membrane protein that binds cytoplasmic F-actin. This binding tethers the nucleus to the cytoskeleton and aids in the maintenance of the structural integrity of the nucleus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

spectrin repeat containing, nuclear envelope family member 3

Enables actin filament binding activity and cytoskeleton-nuclear membrane anchor activity. Involved in cytoskeleton organization; establishment of protein localization to membrane; and regulation of cell shape. Located in nuclear membrane. Part of meiotic nuclear membrane microtubule tethering complex. Biomarker of Huntington's disease. [provided by Alliance of Genome Resources, Mar 2025]

spectrin repeat containing, nuclear envelope family member 4

This gene is a member of the nesprin family of genes, that encode KASH (Klarsicht, Anc-1, Syne Homology) domain-containing proteins. In addition to the KASH domain, this protein also contains a coiled-coil and leucine zipper region, a spectrin repeat, and a kinesin-1 binding region. This protein localizes to the outer nuclear membrane, and is part of the linker of nucleoskeleton and cytoskeleton (LINC) complex in the nuclear envelope. LINC complexes are formed by SUN (Sad1, UNC-84)-KASH pairs, and are thought to mechanically couple nuclear components to the cytoskeleton. Mutations in this gene have been associated with progressive high-frequency hearing loss. The absence of this protein in mice also caused hearing loss, and changes in hair cell morphology in the ears. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

transmembrane domain-containing protein ENSP00000320207-like

zinc finger CCCH domain-containing protein 18-like

HEAT repeat containing 5A

Predicted to be involved in endocytosis; protein localization; and retrograde transport, endosome to Golgi. Predicted to be located in cytosol. Predicted to be active in endocytic vesicle. [provided by Alliance of Genome Resources, Mar 2025]

HEAT repeat containing 5B

Predicted to be involved in endocytosis; protein localization; and retrograde transport, endosome to Golgi. Located in cytosol and nuclear speck. [provided by Alliance of Genome Resources, Mar 2025]

leucine zipper-EF-hand containing transmembrane protein 2

Predicted to enable transmembrane transporter activity. Predicted to be involved in mitochondrial calcium ion transmembrane transport and mitochondrion organization. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

kelch repeat and BTB (POZ) domain containing 2 pseudogene

phospholipase B domain containing 2

Predicted to enable phospholipase activity. Predicted to be involved in phospholipid catabolic process. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

phospholipase B domain containing 1

Predicted to enable phospholipase activity. Predicted to be involved in phospholipid catabolic process. Located in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

protein prenyltransferase alpha subunit repeat containing 1

Predicted to enable protein prenyltransferase activity. Predicted to contribute to Rab geranylgeranyltransferase activity. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

YEATS domain containing 2

Summary: The protein encoded by this gene is a scaffolding subunit of the ATAC complex, which is a complex with acetyltransferase activity on histones H3 and H4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2017]

tripartite motif containing 60 pseudogene 2, Y-linked

transcription elongation factor A (SII) N-terminal and central domain containing

Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

cyclin Pas1/PHO80 domain containing 1

Predicted to enable cyclin-dependent protein serine/threonine kinase regulator activity. Predicted to be located in membrane. Predicted to be part of cyclin-dependent protein kinase holoenzyme complex. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

C-x(9)-C motif containing 1

Predicted to enable metal ion binding activity. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

C-x(9)-C motif containing 2

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

C-x(9)-C motif containing 4

This gene was identified by involvement in some t(X;14) translocations associated with mature T-cell proliferations. This region has a complex gene structure, with a common promoter and 5' exon spliced to two different sets of 3' exons that encode two different proteins. This gene represents the downstream 8 kDa protein that localizes to mitochondria.[provided by RefSeq, Mar 2009]

inositol monophosphatase domain containing 1 pseudogene

PR domain containing 4

The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. An elevated expression level of this gene has been observed in PC12 cells treated with nerve growth factor, beta polypeptide (NGF). This gene is located in a chromosomal region that is thought to contain tumor suppressor genes. [provided by RefSeq, Jul 2008]

secreted LY6/PLAUR domain containing 1

The protein encoded by this gene is a member of the Ly6/uPAR family but lacks a GPI-anchoring signal sequence. It is thought that this secreted protein contains antitumor activity. Mutations in this gene have been associated with Mal de Meleda, a rare autosomal recessive skin disorder. This gene maps to the same chromosomal region as several members of the Ly6/uPAR family of glycoprotein receptors. [provided by RefSeq, Jul 2008]

ribosomal L1 domain containing 1

Enables mRNA 3'-UTR binding activity and mRNA 5'-UTR binding activity. Involved in regulation of apoptotic process and regulation of cellular senescence. Acts upstream of or within regulation of protein localization. Located in chromosome and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

cysteine and histidine-rich domain (CHORD) containing 1 pseudogene

NLR family, CARD domain containing 4

This gene encodes a member of the caspase recruitment domain-containing NLR family. Family members play essential roles in innate immune response to a wide range of pathogenic organisms, tissue damage and other cellular stresses. Mutations in this gene result in autoinflammation with infantile enterocolitis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

NLR family, CARD domain containing 5

This gene encodes a member of the caspase recruitment domain-containing NLR family. This gene plays a role in cytokine response and antiviral immunity through its inhibition of NF-kappa-B activation and negative regulation of type I interferon signaling pathways. [provided by RefSeq, Oct 2011]

NLR family, CARD domain containing 3

This gene encodes a NOD-like receptor family member. The encoded protein is a cytosolic regulator of innate immunity. This protein directly interacts with stimulator of interferon genes (STING), to prevent its proper trafficking, resulting in disruption of STING-dependent activation of the innate immune response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

DPY30 domain containing 2

This gene encodes a member of a family of proteins that contains a DPY30 domain. This gene locus overlaps with a closely related gene on the opposite strand. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

DPY30 domain containing 1

This gene encodes a member of a family of proteins that contains a DPY30 domain. The encoded protein is involved in acrosome formation during spermatid development. This gene locus overlaps with a closely related gene on the opposite strand. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

AT hook, DNA binding motif, containing 1

This gene encodes a protein containing two AT-hooks, which likely function in DNA binding. Mutations in this gene were found in individuals with Xia-Gibbs syndrome. [provided by RefSeq, Jun 2014]

ring finger and SPRY domain containing 1

This gene encodes a glycoprotein that contains a RING-type zinc finger domain and an SPRY domain of unknown function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]

ankyrin and armadillo repeat containing

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

potassium channel tetramerization domain containing 1 pseudogene

CASP2 and RIPK1 domain containing adaptor with death domain pseudogene

zinc finger CCCH-type containing 10

Enables miRNA binding activity. Involved in negative regulation of miRNA processing. Acts upstream of with a positive effect on post-transcriptional regulation of gene expression. Located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger CCCH-type containing 13

Enables RNA binding activity. Involved in mRNA processing. Located in nuclear speck. Part of RNA N6-methyladenosine methyltransferase complex. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger CCCH-type containing 14

The protein encoded by this gene is a poly(A)-binding protein that can affect gene expression and poly(A) tail length. The encoded protein may influence mRNA stability, nuclear export, and translation. [provided by RefSeq, May 2016]

zinc finger CCCH-type containing 18

Enables mRNA cap binding complex binding activity and protein-macromolecule adaptor activity. Involved in RNA destabilization. Located in nuclear speck. Part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Mar 2025]

DENN/MADD domain containing 4A

This gene encodes a DENN domain-containing protein that may function as a guanine nucleotide exchange factor that specifically activates ras-related protein Rab-10. This protein also contains a interferon stimulated response element-binding domain and may be involved in regulating the v-myc avian myelocytomatosis viral (MYC) oncogene. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8. [provided by RefSeq, Mar 2016]

DENN/MADD domain containing 4B

Enables guanyl-nucleotide exchange factor activity. Involved in regulation of Rab protein signal transduction. Located in Golgi apparatus and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

peptidase domain containing associated with muscle regeneration 1

Predicted to enable calcium ion binding activity and serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

GH3 domain containing

Predicted to enable acid-amino acid ligase activity. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

FYVE and coiled-coil domain containing 1

The gene encodes a Rab7 adapter protein that is implicated in the microtubule transport of autophagosomes. The encoded protein contains a RUN domain, a FYVE-type zinc finger domain, and Golgi dynamics (GOLD) domain. The encoded protein plays a role in microtubule plus end-directed transport of autophagic vesicles through interactions with the small GTPase Rab7, phosphatidylinositol-3-phosphate (PI3P), the autophagosome marker LC3, and the kinesin KIF5. Mutations in this gene are associated with inclusion body myositis (IBM) and autosomal recessive congenital cataracts (CATC2). [provided by RefSeq, Aug 2020]

CUE domain containing 1

Predicted to enable ubiquitin binding activity. [provided by Alliance of Genome Resources, Mar 2025]

CUE domain containing 2

Predicted to enable ubiquitin binding activity. Acts upstream of or within negative regulation of cytokine production involved in inflammatory response and negative regulation of macrophage cytokine production. Located in cytosol; nuclear membrane; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

tripartite motif-containing 51F, pseudogene

bromodomain containing 8

The protein encoded by this gene interacts with thyroid hormone receptor in a ligand-dependent manner and enhances thyroid hormone-dependent activation from thyroid response elements. This protein contains a bromodomain and is thought to be a nuclear receptor coactivator. Multiple alternatively spliced transcript variants that encode distinct isoforms have been identified. [provided by RefSeq, Jul 2014]

bromodomain containing 9

Enables lysine-acetylated histone binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in nucleoplasm. Part of SWI/SNF complex. [provided by Alliance of Genome Resources, Mar 2025]

bromodomain containing 4

The protein encoded by this gene is homologous to the murine protein MCAP, which associates with chromosomes during mitosis, and to the human RING3 protein, a serine/threonine kinase. Each of these proteins contains two bromodomains, a conserved sequence motif which may be involved in chromatin targeting. This gene has been implicated as the chromosome 19 target of translocation t(15;19)(q13;p13.1), which defines an upper respiratory tract carcinoma in young people. Two alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]

bromodomain containing 7

This gene encodes a protein which is a member of the bromodomain-containing protein family. The product of this gene has been identified as a component of one form of the SWI/SNF chromatin remodeling complex, and as a protein which interacts with p53 and is required for p53-dependent oncogene-induced senescence which prevents tumor growth. Pseudogenes have been described on chromosomes 2, 3, 6, 13 and 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]

bromodomain containing 1

This gene encodes a bromodomain-containing protein that localizes to the nucleus and can interact with DNA and histone tails. The encoded protein is a component of the MOZ/MORF acetyltransferase complex and can stimulate acetylation of histones H3 and H4, thereby potentially playing a role in gene activation. Variation in this gene is associated with schizophrenia and bipolar disorder in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017]

bromodomain containing 2

This gene encodes a transcriptional regulator that belongs to the BET (bromodomains and extra terminal domain) family of proteins. This protein associates with transcription complexes and with acetylated chromatin during mitosis, and it selectively binds to the acetylated lysine-12 residue of histone H4 via its two bromodomains. The gene maps to the major histocompatability complex (MHC) class II region on chromosome 6p21.3, but sequence comparison suggests that the protein is not involved in the immune response. This gene has been implicated in juvenile myoclonic epilepsy, a common form of epilepsy that becomes apparent in adolescence. Multiple alternatively spliced variants have been described for this gene. [provided by RefSeq, Dec 2010]

bromodomain containing 3

This gene was identified based on its homology to the gene encoding the RING3 protein, a serine/threonine kinase. The gene localizes to 9q34, a region which contains several major histocompatibility complex (MHC) genes. The function of the encoded protein is not known. [provided by RefSeq, Jul 2008]

zinc finger and SCAN domain containing 9

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger and SCAN domain containing 4

The ZSCAN4 gene encodes a protein involved in telomere maintenance and with a key role in the critical feature of mouse embryonic stem (ES) cells, namely, defying cellular senescence and maintaining normal karyotype for many cell divisions in culture (Zalzman et al., 2010 [PubMed 20336070]).[supplied by OMIM, May 2010]

zinc finger and SCAN domain containing 1

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger and SCAN domain containing 2

The protein encoded by this gene contains several copies of zinc finger motif, which is commonly found in transcriptional regulatory proteins. Studies in mice show that this gene is expressed during embryonic development, and specifically in the testis in adult mice, suggesting that it may play a role in regulating genes in germ cells. Alternative splicing of this gene results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

elongation factor Tu GTP binding domain containing 1 pseudogene 1

elongation factor Tu GTP binding domain containing 1 pseudogene 2

pleckstrin and Sec7 domain containing

This gene encodes a Plekstrin homology and SEC7 domains-containing protein that functions as a guanine nucleotide exchange factor. The encoded protein regulates signal transduction by activating ADP-ribosylation factor 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

zinc finger, CCHC domain containing 9 pseudogene

ankyrin repeat and LEM domain containing 1

Enables endonuclease activity. Involved in DNA damage response and protein export from nucleus. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ankyrin repeat and LEM domain containing 2

This gene encodes a member of the LEM family of inner nuclear membrane proteins. The encoded protein functions as a mitotic regulator through postmitotic formation of the nuclear envelope. Mutations in this gene cause morphology defects in the nuclear envelope and BAF hyperphosphorylation. [provided by RefSeq, Mar 2014]

TM2 domain containing 1

The protein encoded by this gene is a beta-amyloid peptide-binding protein. It contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily and known to be important in heterotrimeric G protein activation. Beta-amyloid peptide has been established to be a causative factor in neuron death and the consequent diminution of cognitive abilities observed in Alzheimer's disease. This protein may be a target of neurotoxic beta-amyloid peptide, and may mediate cellular vulnerability to beta-amyloid peptide toxicity through a G protein-regulated program of cell death. Several transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]

TM2 domain containing 2

The protein encoded by this gene contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily. This protein has sequence and structural similarities to the beta-amyloid binding protein (BBP), but, unlike BBP, it does not regulate a response to beta-amyloid peptide. This protein may have regulatory roles in cell death or proliferation signal cascades. This gene has multiple alternatively spliced transcript variants which encode two different isoforms. [provided by RefSeq, Jul 2008]

TM2 domain containing 3

The protein encoded by this gene contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily. This protein has sequence and structural similarities to the beta-amyloid binding protein (BBP), but, unlike BBP, it does not regulate a response to beta-amyloid peptide. This protein may have regulatory roles in cell death or proliferation signal cascades. Several alternatively spliced transcript variants of this gene are described but the full length nature of some variants has not been determined. Multiple polyadenylation sites have been found in this gene. [provided by RefSeq, Jul 2008]

leucine-rich pentatricopeptide repeat containing pseudogene

radical S-adenosyl methionine domain containing 2

The protein encoded by this gene is an interferon-inducible antiviral protein that belongs to the S-adenosyl-L-methionine (SAM) superfamily of enzymes. The protein plays a role in cellular antiviral response and innate immune signaling. Antiviral effects result from inhibition of viral RNA replication, interference in the secretory pathway, binding to viral proteins and dysregulation of cellular lipid metabolism. The protein has been found to inhibit both DNA and RNA viruses, including influenza virus, human immunodeficiency virus (HIV-1) and Zika virus. [provided by RefSeq, Sep 2020]

radical S-adenosyl methionine domain containing 1

Enables heme binding activity. Predicted to be involved in porphyrin-containing compound biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

BTB (POZ) domain containing 6 pseudogene 1

EF-hand domain (C-terminal) containing 2

This gene encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related protein is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy (PMID: 15258581, 16112844) and that this gene may be associated with fear recognition in individuals with Turner syndrome. [provided by RefSeq, Aug 2011]

EF-hand domain (C-terminal) containing 1

This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

kelch domain containing 9

Enables cyclin binding activity. [provided by Alliance of Genome Resources, Mar 2025]

forty-two-three domain containing 1 pseudogene 1

ubiquitin family domain containing 1

Enables RNA binding activity and cadherin binding activity. [provided by Alliance of Genome Resources, Mar 2025]

leucine rich repeat containing 41

Predicted to enable identical protein binding activity. Predicted to be involved in protein ubiquitination. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

leucine rich repeat containing 40

Predicted to be involved in intracellular signal transduction. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

leucine rich repeat containing 43

Predicted to enable dynein complex binding activity. Predicted to be involved in axoneme assembly. Predicted to be active in axoneme. [provided by Alliance of Genome Resources, Mar 2025]

leucine rich repeat containing 42

leucine rich repeat containing 45

Located in several cellular components, including centrosome; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

leucine rich repeat containing 47

Enables RNA binding activity. Predicted to be involved in phenylalanyl-tRNA aminoacylation. [provided by Alliance of Genome Resources, Mar 2025]

leucine rich repeat containing 46

leucine rich repeat containing 49

Located in centriolar satellite. [provided by Alliance of Genome Resources, Mar 2025]

leucine rich repeat containing 48

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

fibronectin type III domain containing 8

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

fibronectin type III domain containing 9

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

fibronectin type III domain containing 4

Involved in response to transforming growth factor beta. Predicted to be located in endoplasmic reticulum; extracellular space; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

fibronectin type III domain containing 5

This gene encodes a secreted protein that is released from muscle cells during exercise. The encoded protein may participate in the development of brown fat. Translation of the precursor protein initiates at a non-AUG start codon at a position that is conserved as an AUG start codon in other organisms. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]

fibronectin type III domain containing 1

Predicted to act upstream of or within several processes, including cellular response to hypoxia; positive regulation of cardiac muscle cell apoptotic process; and positive regulation of protein phosphorylation. Predicted to be located in cell-cell junction; mitochondrial membrane; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

PWWP domain containing 2B

Enables NuRD complex binding activity. Predicted to be involved in chromatin remodeling; positive regulation of transcription elongation by RNA polymerase II; and regulation of cold-induced thermogenesis. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

PWWP domain containing 2A

Enables NuRD complex binding activity; chromatin binding activity; and methylated histone binding activity. Involved in chromatin remodeling. Located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

coiled-coil domain containing 152

coiled-coil domain containing 153

Enables identical protein binding activity. Predicted to be located in cytoplasm; cytoskeleton; and motile cilium. [provided by Alliance of Genome Resources, Mar 2025]

coiled-coil domain containing 150

coiled-coil domain containing 151

This gene encodes a protein containing coiled-coil domains. The encoded protein functions in outer dynein arm assembly and is required for motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]

coiled-coil domain containing 157

coiled-coil domain containing 154

Predicted to be involved in bone mineralization involved in bone maturation. Predicted to act upstream of or within bone resorption; odontogenesis; and sensory perception of sound. Predicted to be located in early endosome. [provided by Alliance of Genome Resources, Mar 2025]

coiled-coil domain containing 155

Predicted to enable dynein complex binding activity. Predicted to be involved in several processes, including cytoskeleton organization; homologous chromosome segregation; and spindle localization. Predicted to act upstream of or within several processes, including double-strand break repair via homologous recombination; meiotic telomere clustering; and spermatogenesis. Predicted to be located in chromosome; membrane; and nuclear envelope. Predicted to be part of meiotic nuclear membrane microtubule tethering complex. Predicted to be active in chromosome; meiotic spindle pole; and nuclear outer membrane. Implicated in primary ovarian insufficiency and spermatogenic failure 88. [provided by Alliance of Genome Resources, Mar 2025]

coiled-coil domain containing 158

coiled-coil domain containing 159

Predicted to be involved in spermatid development. Predicted to act upstream of or within several processes, including regulation of phosphatase activity; single fertilization; and sperm flagellum assembly. Predicted to be located in sperm head-tail coupling apparatus. [provided by Alliance of Genome Resources, Mar 2025]

leucine rich repeat containing 4C

NGL1 is a specific binding partner for netrin G1 (NTNG1; MIM 608818), which is a member of the netrin family of axon guidance molecules (Lin et al., 2003 [PubMed 14595443]).[supplied by OMIM, Mar 2008]

leucine rich repeat containing 4B

Predicted to enable signaling receptor binding activity. Predicted to be involved in regulation of synapse assembly and synaptic membrane adhesion. Predicted to be located in cerebellar mossy fiber and presynaptic membrane. Predicted to be active in glutamatergic synapse and postsynaptic density membrane. [provided by Alliance of Genome Resources, Mar 2025]

PC-esterase domain containing 1A

The protein encoded by this gene is a member of the GDSL/SGNH superfamily. Members of this family are hydrolytic enzymes with esterase and lipase activity and broad substrate specificity. This protein belongs to the Pmr5-Cas1p-esterase subfamily in that it contains the catalytic triad comprised of serine, aspartate and histidine and lacks two conserved regions (glycine after strand S2 and GxND motif). A pseudogene of this gene has been identified on the long arm of chromosome 2. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Sep 2012]

PC-esterase domain containing 1B

This gene encodes a protein that belongs to the GDSL/SGNH-like acyl-esterase family. Members of this family are hydrolases thought to function in modification of biopolymers on the cell surface. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

ribosomal L24 domain containing 1 pseudogene

MANSC domain containing 1

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

GULP, engulfment adaptor PTB domain containing 1

The protein encoded by this gene is an adapter protein necessary for the engulfment of apoptotic cells by phagocytes. Several transcript variants, some protein coding and some thought not to be protein coding, have been found for this gene. [provided by RefSeq, Nov 2011]

coiled-coil domain containing 11 pseudogene 1

NAC alpha domain containing

Predicted to enable unfolded protein binding activity. Predicted to be involved in protein targeting to membrane. Predicted to be located in nucleus. Predicted to be part of nascent polypeptide-associated complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

leucine rich repeat containing 37B pseudogene 1

RAD52 motif containing 1 pseudogene

5'-nucleotidase domain containing 1 pseudogene

DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae) pseudogene

PYD and CARD domain containing

This gene encodes an adaptor protein that is composed of two protein-protein interaction domains: a N-terminal PYRIN-PAAD-DAPIN domain (PYD) and a C-terminal caspase-recruitment domain (CARD). The PYD and CARD domains are members of the six-helix bundle death domain-fold superfamily that mediates assembly of large signaling complexes in the inflammatory and apoptotic signaling pathways via the activation of caspase. In normal cells, this protein is localized to the cytoplasm; however, in cells undergoing apoptosis, it forms ball-like aggregates near the nuclear periphery. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

PRP38 domain containing A pseudogene 2

coiled-coil domain containing 50

This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]

coiled-coil domain containing 51

Enables mitochondrial ATP-gated potassium channel activity. Involved in cell volume homeostasis and mitochondrial potassium ion transmembrane transport. Located in mitochondrial inner membrane. Part of mitochondrial ATP-gated potassium channel complex. [provided by Alliance of Genome Resources, Mar 2025]

coiled-coil domain containing 53

Predicted to be involved in actin filament polymerization and exocytosis. Part of WASH complex. [provided by Alliance of Genome Resources, Mar 2025]

coiled-coil domain containing 54

coiled-coil domain containing 57

Involved in several processes, including G2/M transition of mitotic cell cycle; cilium assembly; and microtubule cytoskeleton organization. Located in centriolar satellite; centriole; and spindle microtubule. [provided by Alliance of Genome Resources, Mar 2025]

coiled-coil domain containing 58

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

coiled-coil domain containing 59

Enables RNA binding activity. Predicted to be located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

membrane bound O-acyltransferase domain containing 2

Enables 1-acylglycerophosphocholine O-acyltransferase activity; 1-acylglycerophosphoethanolamine O-acyltransferase activity; and 1-acylglycerophosphoserine O-acyltransferase activity. Involved in phosphatidylcholine acyl-chain remodeling; phosphatidylethanolamine acyl-chain remodeling; and phosphatidylserine acyl-chain remodeling. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Mar 2025]

membrane bound O-acyltransferase domain containing 1

This gene belongs to the membrane-bound O-acetyltransferase superfamily. The encoded transmembrane protein is an enzyme that transfers organic compounds, preferably from oleoyl-CoA, to hydroxyl groups of protein targets in membranes. A translocation disrupting this gene may be associated with brachydactyly syndactyly syndrome. Alternately spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]

membrane bound O-acyltransferase domain containing 7

This gene encodes a member of the membrane-bound O-acyltransferases family of integral membrane proteins that have acyltransferase activity. The encoded protein is a lysophosphatidylinositol acyltransferase that has specificity for arachidonoyl-CoA as an acyl donor. This protein is involved in the reacylation of phospholipids as part of the phospholipid remodeling pathway known as the Land cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]

membrane bound O-acyltransferase domain containing 4

Enables acyltransferase activity, transferring groups other than amino-acyl groups. Involved in peptidyl-serine octanoylation. Predicted to be located in endoplasmic reticulum. Predicted to be active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Mar 2025]

FIC domain containing

Enables several functions, including AMPylase activity; ATP binding activity; and Hsp70 protein binding activity. Involved in protein adenylylation; regulation of IRE1-mediated unfolded protein response; and response to endoplasmic reticulum stress. Located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Mar 2025]

G patch domain containing 2-like

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

COBW domain containing 6

Predicted to enable GTP binding activity; hydrolase activity; and metal ion binding activity. Predicted to be located in nucleus. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

COBW domain containing 5

Predicted to enable GTPase activity and zinc chaperone activity. Predicted to be involved in protein maturation. Predicted to be located in nucleus. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

COBW domain containing 3

Predicted to enable GTP binding activity; hydrolase activity; and metal ion binding activity. Predicted to be located in nucleus. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

COBW domain containing 2

Predicted to enable GTP binding activity; hydrolase activity; and metal ion binding activity. Predicted to be located in nucleus. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

COBW domain containing 1

Predicted to enable GTPase activity and zinc chaperone activity. Involved in kidney development. Predicted to be located in nucleus. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger, NFX1-type containing 1

Enables RNA binding activity. Involved in defense response to bacterium and defense response to virus. Is active in cytoplasmic stress granule. Implicated in primary immunodeficiency disease. [provided by Alliance of Genome Resources, Mar 2025]

acyl-CoA binding domain containing 3

The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is involved in the maintenance of Golgi structure and function through its interaction with the integral membrane protein giantin. It may also be involved in the hormonal regulation of steroid formation. [provided by RefSeq, Jul 2008]

acyl-CoA binding domain containing 7

Predicted to enable fatty-acyl-CoA binding activity. Predicted to be involved in fatty acid metabolic process. Predicted to act upstream of or within several processes, including energy homeostasis; leptin-mediated signaling pathway; and response to food. [provided by Alliance of Genome Resources, Mar 2025]

acyl-CoA binding domain containing 6

Enables fatty-acyl-CoA binding activity. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

acyl-CoA binding domain containing 5

This gene encodes a member of the acyl-Coenzyme A binding protein family, known to function in the transport and distribution of long chain acyl-Coenzyme A in cells. This gene may play a role in the differentiation of megakaryocytes and formation of platelets. A related protein in yeast is involved in autophagy of peroxisomes. A mutation in this gene has been associated with autosomal dominant thrombocytopenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

acyl-CoA binding domain containing 4

This gene encodes a member of the acyl-coenzyme A binding domain containing protein family. All family members contain the conserved acyl-Coenzyme A binding domain, which binds acyl-CoA thiol esters. They are thought to play roles in acyl-CoA dependent lipid metabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

coiled-coil domain containing 3

Involved in negative regulation of lipid metabolic process; negative regulation of tumor necrosis factor-mediated signaling pathway; and signal transduction. Located in endoplasmic reticulum and extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

coiled-coil domain containing 6

This gene encodes a coiled-coil domain-containing protein. The encoded protein is ubiquitously expressed and may function as a tumor suppressor. A chromosomal rearrangement resulting in the expression of a fusion gene containing a portion of this gene and the intracellular kinase-encoding domain of the ret proto-oncogene is the cause of thyroid papillary carcinoma.[provided by RefSeq, Sep 2010]

coiled-coil domain containing 7

coiled-coil domain containing 8

This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a cofactor required for p53-mediated apoptosis following DNA damage, and may also play a role in growth through interactions with the cytoskeletal adaptor protein obscurin-like 1. Mutations in this gene are a cause of 3M syndrome-3 (3M3). [provided by RefSeq, Dec 2011]

coiled-coil domain containing 9

Enables RNA binding activity. Part of exon-exon junction complex. [provided by Alliance of Genome Resources, Mar 2025]

LETM1 domain containing 1

This gene encodes a mitochondrial outer membrane protein. It has a potential role in tumorigenesis, which may result from negative regulation of the p53 tumor suppressor gene. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Aug 2011]

WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2

The WFIKKN1 protein contains a WAP domain, follistatin domain, immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. This gene encodes a WFIKKN1-related protein which has the same domain organization as the WFIKKN1 protein. The WAP-type, follistatin type, Kunitz-type, and NTR-type protease inhibitory domains may control the action of multiple types of proteases. [provided by RefSeq, Jul 2008]

WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1

This gene encodes a secreted multidomain protein consisting of a signal peptide, a WAP domain, a follistatin domain, an immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. These domains have been implicated frequently in inhibition of various types of proteases, suggesting that the encoded protein may be a multivalent protease inhibitor and may control the action of multiple types of serine proteases as well as metalloproteinases. [provided by RefSeq, Jul 2008]

SAP domain containing ribonucleoprotein

This gene encodes a protein that is upregulated in response to various cytokines. The encoded protein may play a role in cell cycle progression. A translocation between this gene and the myeloid/lymphoid leukemia gene, resulting in expression of a chimeric protein, has been associated with acute myelomonocytic leukemia. Pseudogenes exist on chromosomes 7 and 8. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]

leucine rich repeat containing 32

This gene encodes a type I membrane protein which contains 20 leucine-rich repeats. Alterations in the chromosomal region 11q13-11q14 are involved in several pathologies. [provided by RefSeq, Jul 2008]

leucine rich repeat containing 36

PRELI domain containing 1 pseudogene

coiled-coil domain containing 88B

This gene encodes a member of the hook-related protein family. Members of this family are characterized by an N-terminal potential microtubule binding domain, a central coiled-coiled and a C-terminal Hook-related domain. The encoded protein may be involved in linking organelles to microtubules. [provided by RefSeq, Oct 2009]

prolyl-tRNA synthetase associated domain containing 1, pseudogene

Predicted to enable aminoacyl-tRNA editing activity. Predicted to be involved in aminoacyl-tRNA metabolism involved in translational fidelity. [provided by Alliance of Genome Resources, Mar 2025]

jumonji domain containing 6

This gene encodes a nuclear protein with a JmjC domain. JmjC domain-containing proteins are predicted to function as protein hydroxylases or histone demethylases. This protein was first identified as a putative phosphatidylserine receptor involved in phagocytosis of apoptotic cells; however, subsequent studies have indicated that it does not directly function in the clearance of apoptotic cells, and questioned whether it is a true phosphatidylserine receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

jumonji domain containing 7

This gene encodes a highly conserved protein with a JmjC domain, which are part of the cupin metalloenzyme superfamily. JmjC proteins may function as 2-oxoglutarate-Fe(II)-dependent dioxygenases. Most tissues also express read-through transcripts from this gene into the downstream phospholipase A2, group IVB (cytosolic) gene, some of which may encode fusion proteins combining the N-terminus of this protein with the phospholipase A2, group IVB protein. [provided by RefSeq, Jul 2008]

jumonji domain containing 4

Enables peptidyl-lysine 4-dioxygenase activity. Involved in positive regulation of translational termination and protein hydroxylation. Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

jumonji domain containing 8

Involved in several processes, including positive regulation of canonical NF-kappaB signal transduction; positive regulation of sprouting angiogenesis; and regulation of pyruvate kinase activity. Located in endoplasmic reticulum lumen and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1

The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the adiponectin signalling and insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A, DCC, AKT2, PIK3CA, adiponectin receptors, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. [provided by RefSeq, Jul 2008]

adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2

The protein encoded by this gene is one of two effectors of the small GTPase RAB5A/Rab5, which are involved in a signal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a central pleckstrin homology (PH) domain, and a C-terminal phosphotyrosine binding (PTB) domain, and they bind the Rab5 through the BAR domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the EGF stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling and deacetylase /methyl-CpG-binding protein 1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving this gene and the PSAP2 gene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome. [provided by RefSeq, Oct 2011]

zinc finger, HIT-type containing 3

Predicted to enable nuclear thyroid hormone receptor binding activity. Predicted to be involved in box C/D snoRNP assembly; maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); and snoRNA localization. Located in cytoplasm and nucleus. Implicated in PEHO syndrome. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger, HIT-type containing 2

Predicted to enable metal ion binding activity. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger, HIT-type containing 1

Enables histone binding activity. Involved in muscle cell differentiation and positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger, HIT-type containing 6

Enables ATPase binding activity; TFIID-class transcription factor complex binding activity; and identical protein binding activity. Involved in box C/D snoRNP assembly; protein complex oligomerization; and snoRNA localization. Located in extracellular exosome. Part of pre-snoRNP complex. [provided by Alliance of Genome Resources, Mar 2025]

leucine zipper-EF-hand containing transmembrane protein 1, pseudogene 2

leucine zipper-EF-hand containing transmembrane protein 1, pseudogene 3

BH3-like motif containing, cell death inducer

This gene encodes a BH3-like motif containing protein involved in cell death. The encoded protein may induce apoptosis in a caspase-dependent manner. The protein is localized in both the cytoplasm and the mitochondrion. [provided by RefSeq, Aug 2011]

RUN and FYVE domain containing 3 pseudogene

flavin containing monooxygenase 7 pseudogene

DTW domain containing 2

Enables tRNA-uridine aminocarboxypropyltransferase activity. Involved in RNA glycosylation and tRNA modification. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

DTW domain containing 1

Enables tRNA-uridine aminocarboxypropyltransferase activity. Involved in tRNA modification. Located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

WW domain containing E3 ubiquitin protein ligase 2 pseudogene

abhydrolase domain containing 17A

Enables palmitoyl-(protein) hydrolase activity. Involved in negative regulation of NLRP3 inflammasome complex assembly; protein depalmitoylation; and protein localization to membrane. Located in endosome membrane; nuclear speck; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

abhydrolase domain containing 17B

Enables palmitoyl-(protein) hydrolase activity. Involved in protein depalmitoylation. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

abhydrolase domain containing 17C

Enables palmitoyl-(protein) hydrolase activity. Involved in protein depalmitoylation. Predicted to be located in dendritic spine; postsynaptic density membrane; and recycling endosome membrane. Predicted to be active in endosome membrane; glutamatergic synapse; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

thrombospondin, type I, domain containing 1 pseudogene 1

putative tripartite motif-containing protein 64B

major facilitator superfamily domain containing 6-like

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

zinc finger Ran-binding domain-containing protein 2 pseudogene

CKLF-like MARVEL transmembrane domain containing 8

This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. This gene acts as a tumor suppressor, and plays a role in regulating the migration of tumor cells. The encoded protein is thought to function as a a negative regulator of epidermal growth factor-induced signaling. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]

CKLF-like MARVEL transmembrane domain containing 2

This gene belongs to the chemokine-like factor gene superfamily, a novel family that links the chemokine and the transmembrane 4 superfamilies of signaling molecules. The protein encoded by this gene may play an important role in testicular development. [provided by RefSeq, Jul 2008]

CKLF-like MARVEL transmembrane domain containing 3

This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies of signaling molecules. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. Alternatively spliced transcript variants containing different 5' UTRs, but encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]

CKLF-like MARVEL transmembrane domain containing 1

This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies of signaling molecules. The protein encoded by this gene may play an important role in testicular development. Alternatively spliced transcript variants encoding different isoforms have been identified. Naturally occurring read-through transcription occurs between this locus and the neighboring locus CKLF (chemokine-like factor).[provided by RefSeq, Feb 2011]

CKLF-like MARVEL transmembrane domain containing 6

This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and transmembrane 4 superfamilies. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. This gene is widely expressed in many tissues, but the exact function of the encoded protein is unknown. [provided by RefSeq, Jul 2008]

CKLF-like MARVEL transmembrane domain containing 4

This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies of signaling molecules. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

CKLF-like MARVEL transmembrane domain containing 5

This gene encodes a member of the chemokine-like factor superfamily. This family of genes encodes multi-pass membrane proteins that are similar to both the chemokine and the transmembrane 4 superfamilies of signaling molecules. The encoded protein may exhibit tumor suppressor activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

pleckstrin homology domain containing, family S member 1

SET and MYND domain containing 4

Predicted to enable histone deacetylase binding activity. Involved in heart development. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

SET and MYND domain containing 1

Predicted to enable several functions, including histone H3K4 trimethyltransferase activity; metal ion binding activity; and transcription corepressor activity. Involved in positive regulation of myoblast differentiation and positive regulation of myotube differentiation. Predicted to be located in cytoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

SET and MYND domain containing 2

SET domain-containing proteins, such as SMYD2, catalyze lysine methylation (Brown et al., 2006 [PubMed 16805913]).[supplied by OMIM, Nov 2008]

SET and MYND domain containing 3

This gene encodes a histone methyltransferase which functions in RNA polymerase II complexes by an interaction with a specific RNA helicase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

LysM, putative peptidoglycan-binding, domain containing 3

Enables peptidoglycan binding activity. Involved in Golgi organization. Located in Golgi membrane and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

LysM, putative peptidoglycan-binding, domain containing 4

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

cyclic nucleotide binding domain containing 2

Predicted to enable cAMP binding activity. Predicted to be involved in spermatogenesis. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

cyclic nucleotide binding domain containing 1

tripartite motif containing 53C, pseudogene

AhpC/TSA antioxidant enzyme domain containing 1 pseudogene

ficolin (collagen/fibrinogen domain containing) 3

Ficolins are a group of proteins which consist of a collagen-like domain and a fibrinogen-like domain. In human serum, there are two types of ficolins, both of which have lectin activity. The protein encoded by this gene is a thermolabile beta-2-macroglycoprotein found in all human serum and is a member of the ficolin/opsonin p35 lectin family. The protein, which was initially identified based on its reactivity with sera from patients with systemic lupus erythematosus, has been shown to have a calcium-independent lectin activity. The protein can activate the complement pathway in association with MASPs and sMAP, thereby aiding in host defense through the activation of the lectin pathway. Alternative splicing occurs at this locus and two variants, each encoding a distinct isoform, have been identified. [provided by RefSeq, Jul 2008]

ficolin (collagen/fibrinogen domain containing lectin) 2

The product of this gene belongs to the ficolin family of proteins. This family is characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. This gene is predominantly expressed in the liver, and has been shown to have carbohydrate binding and opsonic activities. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

ficolin (collagen/fibrinogen domain containing) 1

The ficolin family of proteins are characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. The collagen-like and the fibrinogen-like domains are also found separately in other proteins such as complement protein C1q, C-type lectins known as collectins, and tenascins. However, all these proteins recognize different targets, and are functionally distinct. Ficolin 1 encoded by FCN1 is predominantly expressed in the peripheral blood leukocytes, and has been postulated to function as a plasma protein with elastin-binding activity. [provided by RefSeq, Jul 2008]

zinc finger, MYND-type containing 15

This gene encodes a MYND-containing zinc-binding protein with a nuclear localization sequence. A similar gene in mice has been shown to act as a testis-specific transcriptional repressor by recruiting histone deacetylase enzymes to regulate spatiotemporal expression of many haploid genes. This protein may play an important role in spermatogenesis. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]

zinc finger, MYND-type containing 12

Predicted to enable metal ion binding activity. Involved in sperm axoneme assembly. Located in sperm flagellum. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger, MYND-type containing 10

This gene encodes a protein containing a MYND-type zinc finger domain that likely functions in assembly of the dynein motor. Mutations in this gene can cause primary ciliary dyskinesia. This gene is also considered a tumor suppressor gene and is often mutated, deleted, or hypermethylated and silenced in cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

zinc finger, MYND-type containing 11

The protein encoded by this gene was first identified by its ability to bind the adenovirus E1A protein. The protein localizes to the nucleus. It functions as a transcriptional repressor, and expression of E1A inhibits this repression. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

zinc finger, MYND-type containing 19

ZMYND19 is a MYND zinc finger domain-containing protein that binds to the C terminus of melanin-concentrating hormone receptor-1 (MCHR1; MIM 601751) (Bachner et al., 2002 [PubMed 12208518]), and to the N termini of alpha-tubulin (TUBA1; MIM 191110), and beta-tubulin (TUBB; MIM 191130) (Francke et al., 2005 [PubMed 16039987]).[supplied by OMIM, Mar 2008]

pleckstrin homology domain containing, family A member 8 pseudogene 1

Predicted to enable ceramide 1-phosphate binding activity and ceramide 1-phosphate transfer activity. Predicted to be involved in ceramide transport and intermembrane lipid transfer. Predicted to be located in cytoplasm. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

GVQW motif containing 1

pleckstrin homology domain containing, family B (evectins) member 2 pseudogene

pleckstrin homology domain containing, family B (evectins) member 2 pseudogene

SHC (Src homology 2 domain containing) transforming protein 1 pseudogene 2

SHC (Src homology 2 domain containing) transforming protein 1 pseudogene 1

testis and ovary specific PAZ domain containing 1

Predicted to be involved in spermatocyte division. Predicted to act upstream of or within apoptotic process; ectopic germ cell programmed cell death; and lncRNA transcription. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

ankyrin repeat domain-containing protein 30A-like

BPI fold containing family A, member 3

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

BPI fold containing family A, member 1

This gene is the human homolog of murine plunc, and like the mouse gene, is specifically expressed in the upper airways and nasopharyngeal regions. The encoded antimicrobial protein displays antibacterial activity against Gram-negative bacteria. It is thought to be involved in inflammatory responses to irritants in the upper airways and may also serve as a potential molecular marker for detection of micrometastasis in non-small-cell lung cancer. Multiple transcript variants resulting from alternative splicing in the 3' UTR have been detected, but the full-length nature of only three are known. [provided by RefSeq, Aug 2014]

SCP2 sterol-binding domain containing 1

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

chaperonin containing TCP1, subunit 5 (epsilon) pseudogene 1

AT hook containing transcription factor 1 pseudogene 1

survival motor neuron domain containing 1

This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. The protein encoded by this gene is a nuclear protein that has been identified as a constituent of the spliceosome complex. This gene is differentially expressed, with abundant levels in skeletal muscle, and may share similar cellular function as the SMN1 gene. [provided by RefSeq, Jul 2008]

leucine rich repeat containing 37, member A9, pseudogene

tripartite motif containing 48 pseudogene

leucine rich repeat containing 2 pseudogene

tripartite motif-containing 75 pseudogene

RUN and FYVE domain containing 1

This gene encodes a protein that contains a RUN domain and a FYVE-type zinc finger domain. The encoded protein binds to phosphatidylinositol-3-phosphate (PI3P) and plays a role in early endosomal trafficking, tethering and fusion through interactions with small GTPases including Rab4, Rab5 and Rab14. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

RUN and FYVE domain containing 3

This gene encodes a RPIP8, UNC-14, and NESCA domain-containing protein that is required for maintenance of neuronal polarity. In addition, it has been implicated in mediation of gastric cancer cell migration and invasion via interaction with P21-activated kinase-1, which promotes its expression. The encoded protein localizes to F-actin-enriched invadopodia to induce formation of protrusions, thereby facilitating cell migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

RUN and FYVE domain containing 2

Enables SH3 domain binding activity. Predicted to be involved in regulation of endocytosis. Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

RUN and FYVE domain containing 4

Enables phosphatidylinositol-3-phosphate binding activity. Involved in autophagosome assembly; cellular response to interleukin-4; and positive regulation of macroautophagy. Located in autophagosome. [provided by Alliance of Genome Resources, Mar 2025]

tripartite motif containing 28

The protein encoded by this gene mediates transcriptional control by interaction with the Kruppel-associated box repression domain found in many transcription factors. The protein localizes to the nucleus and is thought to associate with specific chromatin regions. The protein is a member of the tripartite motif family. This tripartite motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. [provided by RefSeq, Jul 2008]

tripartite motif containing 29

The protein encoded by this gene belongs to the TRIM protein family. It has multiple zinc finger motifs and a leucine zipper motif. It has been proposed to form homo- or heterodimers which are involved in nucleic acid binding. Thus, it may act as a transcriptional regulatory factor involved in carcinogenesis and/or differentiation. It may also function in the suppression of radiosensitivity since it is associated with ataxia telangiectasia phenotype. [provided by RefSeq, Jul 2008]

tripartite motif containing 24

The protein encoded by this gene mediates transcriptional control by interaction with the activation function 2 (AF2) region of several nuclear receptors, including the estrogen, retinoic acid, and vitamin D3 receptors. The protein localizes to nuclear bodies and is thought to associate with chromatin and heterochromatin-associated factors. The protein is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains - a RING, a B-box type 1 and a B-box type 2 - and a coiled-coil region. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

tripartite motif containing 25

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein is an RNA binding protein, functions as a ubiquitin E3 ligase and is involved in multiple cellular processes, including regulation of antiviral innate immunity. [provided by RefSeq, Sep 2021]

tripartite motif containing 26

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Although the function of the protein is unknown, the RING domain suggests that the protein may have DNA-binding activity. The gene localizes to the major histocompatibility complex (MHC) class I region on chromosome 6. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2011]

tripartite motif containing 27

This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to the nuclear matrix. It interacts with the enhancer of polycomb protein and represses gene transcription. It is also thought to be involved in the differentiation of male germ cells. Fusion of the N-terminus of this protein with the truncated C-terminus of the RET gene product has been shown to result in production of the ret transforming protein. [provided by RefSeq, Jul 2008]

tripartite motif containing 21

This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The encoded protein is part of the RoSSA ribonucleoprotein, which includes a single polypeptide and one of four small RNA molecules. The RoSSA particle localizes to both the cytoplasm and the nucleus. RoSSA interacts with autoantigens in patients with Sjogren syndrome and systemic lupus erythematosus. Alternatively spliced transcript variants for this gene have been described but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]

tripartite motif containing 22

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to the cytoplasm and its expression is induced by interferon. The protein is involved in innate immunity against different DNA and RNA viruses. [provided by RefSeq, Oct 2021]

tripartite motif containing 23

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein is also a member of the ADP ribosylation factor family of guanine nucleotide-binding family of proteins. Its carboxy terminus contains an ADP-ribosylation factor domain and a guanine nucleotide binding site, while the amino terminus contains a GTPase activating protein domain which acts on the guanine nucleotide binding site. The protein localizes to lysosomes and the Golgi apparatus. It plays a role in the formation of intracellular transport vesicles, their movement from one compartment to another, and phopholipase D activation. Three alternatively spliced transcript variants for this gene have been described. [provided by RefSeq, Jul 2008]

BEN domain containing 3 pseudogene 1

C-x(9)-C motif containing 2 pseudogene

abhydrolase domain containing 8

This gene is upstream of, and in a head-to-head orientation with the gene for the mitochondrial ribosomal protein L34. The predicted protein contains alpha/beta hydrolase fold and secretory lipase domains. [provided by RefSeq, Jul 2008]

abhydrolase domain containing 2

This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a wide range of enzymes. The encoded protein is an acylglycerol lipase that catalyzes the hydrolysis of endocannabinoid arachidonoylglycerol from the cell membrane. This leads to activation of the sperm calcium channel CatSper, which results in sperm activation. Alternative splicing of this gene results in two transcript variants encoding the same protein. [provided by RefSeq, Jan 2017]

abhydrolase domain containing 3

This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a very wide range of enzymes. The function of this protein has not been determined. [provided by RefSeq, Jul 2008]

abhydrolase domain containing 1

This gene is a member of the AB hydrolase superfamily and encodes a protein with an alpha/beta hydrolase fold. This domain is common to a number of hydrolytic enzymes of widely differing phylogenetic origins and catalytic functions. [provided by RefSeq, Jul 2008]

abhydrolase domain containing 6

Enables monoacylglycerol lipase activity. Involved in acylglycerol catabolic process. Predicted to be located in late endosome membrane and lysosomal membrane. Predicted to be part of AMPA glutamate receptor complex. Predicted to be active in GABA-ergic synapse; glutamatergic synapse; and postsynaptic membrane. [provided by Alliance of Genome Resources, Mar 2025]

abhydrolase domain containing 4

Predicted to enable lysophosphatidic acid acyltransferase activity and lysophospholipase activity. Predicted to be involved in N-acylphosphatidylethanolamine metabolic process; lipid homeostasis; and phosphatidic acid biosynthetic process. Predicted to act upstream of or within N-acylethanolamine metabolic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in lipid droplet and mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

abhydrolase domain containing 5

The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq, Jul 2008]

coiled-coil domain containing 90A pseudogene 1

tripartite motif-containing 75 pseudogene

tripartite motif-containing protein 60-like

transmembrane and immunoglobulin domain containing 3

This gene encodes a transmembrane and immunoglobulin domain-containing protein. Alternative splicing results in multiple transcript variants, one of which shares its 5' terminal exon with that of the overlapping adenosine A3 receptor gene (GeneID:140), thus resulting in a fusion product. [provided by RefSeq, Nov 2014]

transmembrane and immunoglobulin domain containing 2

Enables coreceptor activity. Involved in positive regulation of T cell activation; positive regulation of angiogenesis; and positive regulation of cytokine production. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

Tctex1 domain containing 4

Enables protein phosphatase 1 binding activity. Predicted to be involved in microtubule-based movement. Located in several cellular components, including acrosomal vesicle; cytoskeleton; and sperm flagellum. [provided by Alliance of Genome Resources, Mar 2025]

FUN14 domain containing 2

Enables phosphatidylinositol-3,4,5-trisphosphate binding activity. Involved in intracellular triglyceride homeostasis. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

FUN14 domain containing 1

This gene encodes a protein with a FUN14 superfamily domain. The function of the encoded protein is not known. [provided by RefSeq, Sep 2011]

WD repeat and FYVE domain containing 3

This gene encodes a phosphatidylinositol 3-phosphate-binding protein that functions as a master conductor for aggregate clearance by autophagy. This protein shuttles from the nuclear membrane to colocalize with aggregated proteins, where it complexes with other autophagic components to achieve macroautophagy-mediated clearance of these aggregated proteins. However, it is not necessary for starvation-induced macroautophagy. [provided by RefSeq, May 2010]

WD repeat and FYVE domain containing 2

This gene encodes a protein that contains two WD domains and an FYVE zinc finger region. The function of this gene is unknown. An alternatively spliced transcript variant of this gene may exist. [provided by RefSeq, Jul 2008]

WD repeat and FYVE domain containing 1

The protein encoded by this gene is a phosphatidylinositol 3-phosphate binding protein, which contains a FYVE zinc finger domain and multiple WD-40 repeat domains. When exogenously expressed, it localizes to early endosomes. Mutagenesis analysis demonstrates that this endosomal localization is mediated by the FYVE domain. [provided by RefSeq, Jan 2015]

glycerophosphodiester phosphodiesterase domain containing 1

This gene encodes a member of the glycerophosphodiester phosphodiesterase family of enzymes that catalyze the hydrolysis of deacylated glycerophospholipids to glycerol phosphate and alcohol. The encoded protein is localized to the cytoplasm and concentrates near the perinuclear region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

TBC1 domain containing kinase

This gene encodes a protein that contains a protein kinase domain, a Rhodanase-like domain and the Tre-2/Bub2/Cdc16 (TBC) domain. The encoded protein is thought to play a role in actin organization, cell growth and cell proliferation by regulating the mammalian target of the rapamycin (mTOR) signaling pathway. This protein may also be involved in the transcriptional regulation of the components of the mTOR complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

SH2 domain containing 3A

Predicted to enable guanyl-nucleotide exchange factor activity and phosphotyrosine residue binding activity. Predicted to be involved in JNK cascade. [provided by Alliance of Genome Resources, Mar 2025]

SH2 domain containing 3C

This gene encodes an adaptor protein and member of a cytoplasmic protein family involved in cell migration. The encoded protein contains a putative Src homology 2 (SH2) domain and guanine nucleotide exchange factor-like domain which allows this signaling protein to form a complex with scaffolding protein Crk-associated substrate. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene

endonuclease domain containing 1

Predicted to enable endonuclease activity; metal ion binding activity; and nucleic acid binding activity. Predicted to be involved in innate immune response. Located in extracellular exosome and membrane. [provided by Alliance of Genome Resources, Mar 2025]

beta-gamma crystallin domain containing 3

Enables protein kinase A binding activity. Predicted to be involved in lens development in camera-type eye and visual perception. Part of protein-containing complex. [provided by Alliance of Genome Resources, Mar 2025]