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localization, suggesting it is a P-body component. Naturally occurring mutations in this gene are associated with psoriasis. [provided by RefSeq, May 2017]

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by Alliance of Genome Resources, Jul 2025]

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8 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Apr 2022]

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that are ubiquitously expressed. Mutations in this gene cause Baraitser-Winter syndrome 1, which is characterized by intellectual disability with a distinctive facial appearance in human patients. Numerous pseudogenes of this gene have been identified throughout the human genome. [provided by RefSeq, Aug 2017]

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taining compound biosynthetic process. Located in cortical cytoskeleton; membrane; and spectrin-associated cytoskeleton. Is expressed in several structures, including central nervous system; embryo mesenchyme; heart; retina; and skeletal muscle. Used to study hereditary spherocytosis type 1 and malaria. Human ortholog(s) of this gene implicated in anemia; hereditary spherocytosis; and hereditary spherocytosis type 1. Orthologous to human ANK1 (ankyrin 1). [provided by Alliance of Genome Resources, Jul 2025]

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altered lipoprotein metabolic pathway; forkhead class A signaling pathway; lipoprotein metabolic pathway; ASSOCIATED WITH aortic valve stenosis (ortholog); arteriosclerosis (ortholog); autosomal recessive hypercholesterolemia (ortholog); FOUND IN extracellular space (ortholog); high-density lipoprotein particle (ortholog); low-density lipoprotein particle (ortholog); INTERACTS WITH ammonia

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and C complex, possibly targeting them for degradation. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2011]

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ed transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]

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ne, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all. [provided by RefSeq, Mar 2017]

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ducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2020]

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ted to be active in PML body and autophagosome. Orthologous to human CALCOCO2 (calcium binding and coiled-coil domain 2). [provided by Alliance of Genome Resources, Apr 2025]

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; PARTICIPATES IN reverse cholesterol transport pathway; syndecan signaling pathway; ASSOCIATED WITH atrial fibrillation (ortholog); Experimental Autoimmune Myocarditis (ortholog); high grade glioma (ortholog); FOUND IN caveola (ortholog); cell surface (ortholog); Golgi apparatus (ortholog); INTERACTS WITH deoxynivalenol

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cause of 3M syndrome-3 (3M3). [provided by RefSeq, Dec 2011]

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aling pathway; ASSOCIATED WITH acute kidney failure (ortholog); allergic conjunctivitis (ortholog); allergic disease (ortholog); FOUND IN extracellular space (ortholog)

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ergic bronchopulmonary aspergillosis (ortholog); allergic contact dermatitis (ortholog); allergic disease (ortholog); FOUND IN extracellular region (inferred); extracellular space (inferred)

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tructive pulmonary disease (ortholog); COVID-19 (ortholog); FOUND IN extracellular region (inferred); extracellular space (inferred); INTERACTS WITH prostaglandin F2alpha; resveratrol

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ncluding differentiation, adhesion, and signal transduction, and expression of this gene plays a critical role in the suppression of cancer cell motility and metastasis. [provided by RefSeq, Jan 2011]

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USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013]

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n endomembrane system. Orthologous to human CHID1 (chitinase domain containing 1). [provided by Alliance of Genome Resources, Jul 2025]

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log); ASSOCIATED WITH amyotrophic lateral sclerosis (ortholog); amyotrophic lateral sclerosis type 1 (ortholog); Cerebral Hemorrhage (ortholog); FOUND IN axon (ortholog); extracellular space (ortholog); glial cell projection (ortholog)

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Mammary Neoplasms (ortholog); carcinoma (ortholog); coronin-1A deficiency (ortholog); FOUND IN nucleus (ortholog); stereocilium tip (ortholog)

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acute asthma (ortholog); Acute Lung Injury (ortholog); acute pyelonephritis (ortholog); FOUND IN extracellular region; INTERACTS WITH 3',4',5'-Trimethoxyflavone; anthra[1,9-cd]pyrazol-6(2H)-one; apigenin

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ortholog); PARTICIPATES IN celecoxib pharmacodynamics pathway; celecoxib pharmacokinetics pathway; citalopram pharmacodynamics pathway; ASSOCIATED WITH acute kidney failure (ortholog); acute lymphoblastic leukemia (ortholog); acute myeloid leukemia (ortholog); FOUND IN cytoplasm (ortholog); INTERACTS WITH Bufuralol; desipramine; dextromethorphan

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es, Apr 2025]

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antigen via MHC class II (ortholog); humoral immune response (ortholog); PARTICIPATES IN interleukin-12 signaling pathway; ASSOCIATED WITH abdominal aortic aneurysm (ortholog); Actinic Prurigo (ortholog); acute disseminated encephalomyelitis (ortholog); FOUND IN cell surface (ortholog); external side of plasma membrane (ortholog); immunological synapse (ortholog)

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protein). [provided by Alliance of Genome Resources, Jul 2025]

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2025]

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25]

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rosome. Orthologous to human ERCC6L2 (ERCC excision repair 6 like 2). [provided by Alliance of Genome Resources, Apr 2025]

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sarcoma (ortholog); Neoplastic Processes (ortholog); FOUND IN Cajal body (ortholog)

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ile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010]

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tron acceptor. The enzyme exists in the mitochondrial matrix as a homotetramer of 45-kD subunits. Mutations in this gene result in the metabolic disorder glutaric aciduria type 1, which is also known as glutaric acidemia type I. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 12. [provided by RefSeq, Mar 2013]

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ionate (AMPA), and function as ligand-activated cation channels. These channels are assembled from 4 related subunits, GRIA1-4. The subunit encoded by this gene (GRIA2) is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to render the channel impermeable to Ca(2+). Human and animal studies suggest that pre-mRNA editing is essential for brain function, and defective GRIA2 RNA editing at the Q/R site may be relevant to amyotrophic lateral sclerosis (ALS) etiology. Alternative splicing, resulting in transcript variants encoding different isoforms, (including the flip and flop isoforms that vary in their signal transduction properties), has been noted for this gene. [provided by RefSeq, Jul 2008]

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aptic plasticity. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. A pseudogene of this gene has been defined on chromosome 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

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identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta, as well as Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. [provided by RefSeq, Jul 2008]

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n ancestral gene common to the GPB gene by gene duplication. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]

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from the endoplasmic reticulum lumen so that they can be recognized by cytotoxic T cells. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. More than 6000 HLA-A alleles have been described. The HLA system plays an important role in the occurrence and outcome of infectious diseases, including those caused by the malaria parasite, the human immunodeficiency virus (HIV), and the severe acute respiratory syndrome coronavirus (SARS-CoV). The structural spike and the nucleocapsid proteins of the novel coronavirus SARS-CoV-2, which causes coronavirus disease 2019 (COVID-19), are reported to contain multiple Class I epitopes with predicted HLA restrictions. Individual HLA genetic variation may help explain different immune responses to a virus across a population.[provided by RefSeq, Aug 2020]

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from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. About 6000 HLA-C alleles have been described. The HLA system plays an important role in the occurrence and outcome of infectious diseases, including those caused by the malaria parasite, the human immunodeficiency virus (HIV), and the severe acute respiratory syndrome coronavirus (SARS-CoV). The structural spike and the nucleocapsid proteins of the novel coronavirus SARS-CoV-2, which causes coronavirus disease 2019 (COVID-19), are reported to contain multiple Class I epitopes with predicted HLA restrictions. Individual HLA genetic variation may help explain different immune responses to a virus across a population.[provided by RefSeq, Aug 2020]

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ules are expressed in antigen presenting cells. The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and some alleles have increased frequencies associated with certain diseases or conditions. For example, DRB1*1302 has been related to acute and chronic hepatitis B virus persistence. There are multiple pseudogenes of this gene. [provided by RefSeq, Jul 2020]

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ing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some may shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNA and is very similar to the family member HNRPF. This gene may be associated with hereditary lymphedema type I. Alternatively spliced transcript variants have been described [provided by RefSeq, Mar 2012]

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s, including brain; gallbladder; genitourinary system; gut; and spinal cord. Used to study anorexia nervosa. Orthologous to human HTR4 (5-hydroxytryptamine receptor 4). [provided by Alliance of Genome Resources, Jul 2025]

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ntary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in Alzheimer's disease and type 2 diabetes mellitus. Orthologous to human IDE (insulin degrading enzyme). [provided by Alliance of Genome Resources, Jul 2025]

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cturally related to IL2R alpha, an additional IL2-specific alpha subunit necessary for high affinity IL2 binding. Unlike IL2RA, IL15RA is capable of binding IL15 with high affinity independent of other subunits, which suggests distinct roles between IL15 and IL2. This receptor is reported to enhance cell proliferation and expression of apoptosis inhibitor BCL2L1/BCL2-XL and BCL2. Multiple alternatively spliced transcript variants of this gene have been reported.[provided by RefSeq, Apr 2010]

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and regulation of transcription by RNA polymerase II. Acts upstream of or within DNA repair-dependent chromatin remodeling; negative regulation of neurogenesis; and nervous system development. Located in chromatin and nucleus. Is expressed in several structures, including articular cartilage; brain; reproductive system; retina; and urinary system. Orthologous to human KDM1A (lysine demethylase 1A). [provided by Alliance of Genome Resources, Jul 2025]

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integral membrane protein receptor. The protein functions as a stress-induced antigen that is broadly recognized by intestinal epithelial gamma delta T cells. Variations in this gene have been associated with susceptibility to psoriasis 1 and psoriatic arthritis, and the shedding of MICA-related antibodies and ligands is involved in the progression from monoclonal gammopathy of undetermined significance to multiple myeloma. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2014]

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MOB4 (MOB family member 4, phocein). [provided by Alliance of Genome Resources, Jul 2025]

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H Ataxia (ortholog); autosomal recessive spinocerebellar ataxia 20 (ortholog); Breast Cancer, Familial (ortholog); FOUND IN mitochondrial inner membrane (ortholog); protein-containing complex (ortholog)

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be active in cytoplasm and nucleus. Is expressed in central nervous system; liver; sensory organ; thymus; and vertebral axis musculature. Orthologous to human MYEF2 (myelin expression factor 2). [provided by Alliance of Genome Resources, Jul 2025]

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uences representing several pseudogenes have been described and two transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

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-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009]

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ion of RIG-I signaling pathway; negative regulation of type I interferon production; and proteolysis involved in protein catabolic process. Located in nucleus. Part of UFD1-NPL4 complex and VCP-NPL4-UFD1 AAA ATPase complex. [provided by Alliance of Genome Resources, Jul 2025]

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variants with different enzymatic activities. Polymorphisms in this gene have been associated with susceptibility to viral infection, including SARS-CoV-2, and diabetes mellitus, type 1. This gene is located in a cluster of related genes on chromosome 12. [provided by RefSeq, May 2022]

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nhibiting G protein-coupled receptor signaling pathway; PARTICIPATES IN alfentanil pharmacodynamics pathway; bupivacaine pharmacodynamics pathway; buprenorphine pharmacodynamics pathway; ASSOCIATED WITH brain ischemia; Experimental Diabetes Mellitus; extrahepatic cholestasis; FOUND IN dendrite; dendrite cytoplasm; dendrite membrane; INTERACTS WITH (+)-pilocarpine; (3,4-dihydroxyphenyl)acetic acid; (D-Ala(2)-mephe(4)-gly-ol(5))enkephalin

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thway; ASSOCIATED WITH bladder neck obstruction; Dental Pulp Exposure; Parkinson's disease; FOUND IN axon; cytoplasmic vesicle; Golgi apparatus; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,6-dinitrotoluene; 3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine

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Located in endoplasmic reticulum and mitochondrion. Implicated in developmental and epileptic encephalopathy 66. [provided by Alliance of Genome Resources, Jul 2025]

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encoded protein is localized to the endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated with hyperphosphatasia cognitive disability syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]

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m; genitourinary system; nervous system; and sensory organ. Orthologous to human POLR1E (RNA polymerase I subunit E). [provided by Alliance of Genome Resources, Jul 2025]

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ies of, cAMP response element binding protein (CREB) and nuclear respiratory factors (NRFs). It provides a direct link between external physiological stimuli and the regulation of mitochondrial biogenesis, and is a major factor that regulates muscle fiber type determination. This protein may be also involved in controlling blood pressure, regulating cellular cholesterol homoeostasis, and the development of obesity. [provided by RefSeq, Jul 2008]

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[provided by RefSeq, Aug 2013]

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e to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit is one of the gamma regulatory subunits of AMPK. It is dominantly expressed in skeletal muscle. Studies of the pig counterpart suggest that this subunit may play a key role in the regulation of energy metabolism in skeletal muscle. [provided by RefSeq, Jul 2008]

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hout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit in the proteasome. This catalytic subunit is not present in the immunoproteasome and is replaced by catalytic subunit 3i (proteasome beta 8 subunit). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]

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s gene has been defined on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

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linked to mitochondrial myopathy and sideroblastic anemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]

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gene causes alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome), a pleiotropic and clinically heterogeneous disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

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orms. Long isoforms are largely cytosolic and plasma membrane-associated with a function in Wnt signaling and in the epithelial mesenchymal transition, while shorter N-terminally-truncated isoforms can be nuclear. [provided by RefSeq, Jan 2013]

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mplex. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]

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this gene is expressed at low levels and may function as a tumor suppressor. Promoter hypermethylation of this gene is observed in cervical cancer cell lines and tissue derived from human patients. [provided by RefSeq, Mar 2017]

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er's disease (ortholog); FOUND IN late endosome membrane (ortholog); lysosomal membrane (ortholog); INTERACTS WITH deoxynivalenol

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e (ortholog); hyperinsulinism (ortholog); FOUND IN caveola (ortholog); mitochondrial inner membrane (ortholog); INTERACTS WITH deoxynivalenol

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al membrane to the inner mitochondrial membrane. Mutations in this gene are a cause of congenital lipoid adrenal hyperplasia (CLAH), also called lipoid CAH. A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jul 2008]

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D WITH chondrosarcoma (ortholog); Disease Progression (ortholog); extraskeletal myxoid chondrosarcoma (ortholog); FOUND IN nucleolus (ortholog)

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lso removes thymine from C/T and T/T mispairings. TDG can also remove uracil and 5-bromouracil from mispairings with guanine. This enzyme plays a central role in cellular defense against genetic mutation caused by the spontaneous deamination of 5-methylcytosine and cytosine. This gene may have a pseudogene in the p arm of chromosome 12. [provided by RefSeq, Jul 2008]

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identified for this gene. [provided by RefSeq, Jan 2011]

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ts. [provided by RefSeq, Dec 2015]

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organization and regulation of ER to Golgi vesicle-mediated transport. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Jul 2025]

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04 [PubMed 14715245]).[supplied by OMIM, Jun 2009]

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ial growth factor signaling pathway; altered vascular endothelial growth factor signaling pathway involving proteins affecting its expression; ASSOCIATED WITH Acute Lung Injury; adhesions of uterus; allergic contact dermatitis; FOUND IN basement membrane; extracellular space; vesicle; INTERACTS WITH (+)-pilocarpine; (R)-lipoic acid; (S)-duloxetine hydrochloride

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n a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene has a pseudogene at chromosome 4q31.3. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity and full-length nature of some variants have not been determined. [provided by RefSeq, Jul 2008]

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p53 signaling pathway; ASSOCIATED WITH Breast Neoplasms (ortholog); Colonic Neoplasms (ortholog); Experimental Liver Cirrhosis (ortholog); FOUND IN dendrite (ortholog); neuronal cell body (ortholog); perinuclear region of cytoplasm (ortholog)

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f G0 to G1 transition; negative regulation of transcription by RNA polymerase II; and regulation of T cell proliferation. Located in nucleus. Is expressed in early conceptus; heart; and lens. Orthologous to human ZNHIT1 (zinc finger HIT-type containing 1). [provided by Alliance of Genome Resources, Jul 2025]

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cterial verotoxins receptor. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]

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t isoforms have been found for this gene. [provided by RefSeq, Jul 2013]

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and high affinity immunoglobulin epsilon receptor activation. Studies in mouse suggest that this gene is involved in antifungal host defense and that its inhibition leads to increased fungal killing. Manipulation of this gene may be beneficial in implementing immunotherapies for a variety of conditions, including cancer, autoimmune diseases, allergies, and infections. [provided by RefSeq, Sep 2017]

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t is thought that FABPs roles include fatty acid uptake, transport, and metabolism. Transcript variants generated by alternate transcription promoters and/or alternate splicing have been found for this gene. [provided by RefSeq, Jul 2008]

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igh disease; and MELAS syndrome. [provided by Alliance of Genome Resources, Jul 2025]

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Resources, Jul 2025]

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llular components, including dendrite; filopodium tip; and lamellipodium. [provided by Alliance of Genome Resources, Jul 2025]

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y Alliance of Genome Resources, Jul 2025]

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egulate cell proliferation and differentiation. This gene may be responsible for some of the phenotypic features associated with cat eye syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

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n syndrome 10. [provided by RefSeq, Feb 2012]

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lternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]

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Resources, Jul 2025]

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glucose stimulus. Located in apical plasma membrane and nucleoplasm. Implicated in Moyamoya disease. [provided by Alliance of Genome Resources, Jul 2025]

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g of the protective antigen (PA) component, of the tripartite anthrax toxin, to this receptor protein mediates delivery of toxin components to the cytosol of cells. Once inside the cell, the other two components of anthrax toxin, edema factor (EF) and lethal factor (LF) disrupt normal cellular processes. Three alternatively spliced variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008]

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B) 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]

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ucture of chromatin by ensuring a constant supply of histones at sites of nucleosome assembly. [provided by RefSeq, Jul 2008]

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er, pancreas, ovary, prostate, and blood). This gene plays an important role in neurodevelopment, cardiac function, adipogenesis, and osteoclastogenesis. [provided by RefSeq, Feb 2017]

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oteins. Specific class I and II histone deacetylases (HDACs) have been shown to interact with this protein, which suggests a possible link between the two classes of HDACs. Several transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome Y.[provided by RefSeq, Jun 2010]

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esources, Apr 2025]

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ll nuclear RNA gene promoters through its interaction with the TATA-binding protein. [provided by RefSeq, Jul 2008]

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inal fluid, saliva, and gastric acid. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Three transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2014]

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ultiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009]

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asia with other brain malformations. [provided by Alliance of Genome Resources, Jul 2025]

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erent protein isoforms. [provided by RefSeq, Jul 2012]

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between muscle precursor cells and positively regulates myogenesis. [provided by RefSeq, Aug 2011]

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fSeq, Apr 2017]

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tact site and cristae organizing system (MICOS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

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n the outer hair cells (OHCs) of the adult cochlea. [provided by RefSeq, Feb 2012]

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ative splicing results in multiple transcript variations. [provided by RefSeq, Nov 2013]

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f post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008]

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ct function of the encoded protein is unknown. [provided by RefSeq, Jul 2008]

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if is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. This encoded protein is involved in the control of Golgi structure and function, and it may have a physiological role in regulating ADP-ribosylation factor protein 6 (ARF) functions, in addition to acting on ARF1. [provided by RefSeq, Jul 2008]

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e complex. [provided by Alliance of Genome Resources, Jul 2025]

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Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]

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lliance of Genome Resources, Jul 2025]

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out of the orthologous gene die during late embryonic development or within hours after birth. Knockout embryos are normal in size at embryonic day 18.5 but exhibit skeletal and lung tissue abnormalities. This gene, when mutated, is highly expressed in embryonal carcinomas, pluripotent germ cell tumors, and other cancers and is thought to play an important role in tumor progression. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]

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rotein kinase. This gene has been implicated in pulmonary carcinogenesis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]

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licing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

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ts peak when the other is at its lowest. [provided by RefSeq, Dec 2016]

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nly associates with chromatin after the nuclear envelope has broken down. This protein is a DNA translocase that is thought to bind double-stranded DNA that is exposed to stretching forces, such as those exerted by the mitotic spindle. This protein associates with ribosomal DNA and ultra-fine DNA bridges (UFBs), fine structures that connect sister chromatids during anaphase at some sites such as fragile sites, telomeres and centromeres. This gene is required for the faithful segregation of sister chromatids during mitosis, and the ATPase activity of this protein required for the resolution of UFBs before cytokinesis. [provided by RefSeq, May 2017]

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eq, Jul 2014]

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t 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. It shares 78% sequence identity with the mouse protein. [provided by RefSeq, Jul 2008]

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ent 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]

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eurons of the central serotonin (5-HT) system, a system implicated in the pathogeny of such psychiatric diseases as depression, anxiety, and eating disorders. In some types of Ewing tumors, this gene is fused to the Ewing sarcoma (EWS) gene following chromosome translocations. [provided by RefSeq, Jul 2008]

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e not been able to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

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of blood vessel endothelial cell differentiation; and positive regulation of vascular associated smooth muscle cell proliferation. Located in fibrillar center and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

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d by RefSeq, Jul 2008]

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ndrial function. The crystal structure of a similar protein in mouse has been resolved as a ternary protein complex. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

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those that encode the alpha 3 and epsilon subunits of the GABA A receptor. [provided by RefSeq, Jul 2017]

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sources, Jul 2025]

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after it fragments during mitosis. The protein encoded by this gene is a member of the golgin family of proteins, whose members localize to the Golgi. This gene is found in a large, low copy repeat sequence or duplicon that is found in multiple copies, that are greather than 90% similar, on chromosome 15. Duplicons are associated with deletions, inversions and other chromosome rearrangements that underlie genomic disease. The protein encoded by this gene is thought to be a functional golgin protein while the majority of the related copies of this gene are thought to be transcribed pseudogenes. [provided by RefSeq, Jul 2008]

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is. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known. [provided by RefSeq, Jul 2008]

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family. It catalyzes the deacetylation of lysine residues in the histone N-terminal tails and represses transcription in large multiprotein complexes with transcriptional co-repressors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

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ely spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2014]

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

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ed on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The protein level is controlled during cell differentiation and proliferation, which may indicate this protein has a role in origin activation. [provided by RefSeq, Jul 2008]

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pressed and secreted in mononuclear cells. Elevated level of this protein is detected in the intestinal tissues of patients with Crohn's disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]

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cells after infection by herpesvirus samimiri. [provided by RefSeq, Jul 2008]

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

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lternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]

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ex. [provided by Alliance of Genome Resources, Jul 2025]

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e contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class. The coding region of this gene is intronless, and the gene is clustered with genes KCNA1 and KCNA5 on chromosome 12. [provided by RefSeq, Jul 2008]

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to flow into a cell rather than out of a cell, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. [provided by RefSeq, Jul 2008]

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nonhomologous end joining. Located in site of double-strand break. Biomarker of nephroblastoma. [provided by Alliance of Genome Resources, Jul 2025]

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osis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

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enome Resources, Jul 2025]

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q, Mar 2015]

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ox-containing protein 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2017]

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a membrane. [provided by Alliance of Genome Resources, Jul 2025]

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fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. It replaces conventional H2A histones in a subset of nucleosomes where it represses transcription and may participate in stable X chromosome inactivation. [provided by RefSeq, Oct 2015]

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f major histocompatibility complex (MHC) class II molecules (see MIM 142880) and other glycoproteins by directing them to the late endosomal/lysosomal compartment (Bartee et al., 2004 [PubMed 14722266]; Thibodeau et al., 2008 [PubMed 18389477]; De Gassart et al., 2008 [PubMed 18305173]).[supplied by OMIM, Mar 2010]

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Pro motif), which consists of 100-150 amino acids and is found in numerous proteins that are involved in cell division, growth and differentiation. Mutations in this gene cause an autosomal dominant type of cognitive disability. The encoded protein interacts with the polycomb repressive complex PR-DUB which catalyzes the deubiquitination of a lysine residue of histone 2A. Haploinsufficiency of this gene is associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Alternatively spliced transcript variants have been found, but their full-length nature is not determined. [provided by RefSeq, Jul 2017]

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erent isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

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mosome 17. [provided by RefSeq, Jul 2008]

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RefSeq, Oct 2008]

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ane. Predicted to be part of protein-containing complex. Predicted to be active in melanosome. [provided by Alliance of Genome Resources, Jul 2025]

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oids. The protein encoded by this gene methylates G(1370) of 16S rRNA, and this modification is necessary for proper ribosomal large subnit assembly. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

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some 11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]

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s, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea. [provided by RefSeq, Jul 2008]

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[PubMed 12509226]).[supplied by OMIM, Mar 2008]

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toplasm. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

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four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. The four H/ACA snoRNP proteins are also components of the telomerase complex. This gene encodes a protein related to Saccharomyces cerevisiae Nop10p. [provided by RefSeq, Jul 2008]

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S). The ROS generated by this protein have been implicated in numerous biological functions including signal transduction, cell differentiation and tumor cell growth. A pseudogene has been identified on the other arm of chromosome 11. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]

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ions in this gene cause partial outer dynein arm (ODA) defects in respiratory cilia. The cilia of cells with mutations in this gene displayed either reduced ciliary beat frequency and amplitude, or, complete immotility. Some individuals with primary ciliary dyskensia (PCD) have been shown to have mutations in this gene. PCD is characterized by chronic airway disease and left/right body asymmetry defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

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bject to regulation through feedback inhibition by CoA. This family member is most abundant in muscle but is expressed in all tissues. [provided by RefSeq, Jul 2008]

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. The protein also has a role in the epithelial-to-mesenchymal transition (EMT) that characterizes the invasive phenotype associated with metastatic carcinomas. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

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ively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

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udogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]

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al cancer, while activity of the encoded protein may be negatively correlated with cancer progression in colorectal cancer patients. Activity of the encoded protease may also be altered in other disease states including in liver cirrhosis, which is associated with reduced protease activity, and in necrozoospermia, which is associated with elevated protease activity. [provided by RefSeq, Jul 2016]

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ptor superfamily of transcriptional regulators. RARRES1, RARRES2, and RARRES3 are genes whose expression is upregulated by the synthetic retinoid tazarotene. RARRES3 is thought act as a tumor suppressor or growth regulator. [provided by RefSeq, Jul 2008]

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inating leukodystrophy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

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es. Processing of the beta-amyloid precursor protein generates neurotoxic amyloid beta peptides, the major component of senile plaques associated with Alzheimer's disease. This gene encodes a protein that is required for Notch pathway signaling, and for the activity and accumulation of gamma-secretase. Mutations resulting in haploinsufficiency for this gene cause familial acne inversa-2 (ACNINV2). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]