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Entamoebiasis pathway; ASSOCIATED WITH acute kidney failure; Binge Drinking; calcium oxalate nephrolithiasis; FOUND IN basement membrane; extracellular space; apical plasma membrane (ortholog); INTERACTS WITH (R)-lipoic acid; 1-(5-isoquinolinesulfonyl)-2-methylpiperazine; 17alpha-ethynylestradiol

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ion and migration processes including embryogenesis, wound healing, blood coagulation, host defense, and metastasis. The gene has three regions subject to alternative splicing, with the potential to produce 20 different transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. The full-length nature of some variants has not been determined. [provided by RefSeq, Jan 2016]

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pse pruning. Acts upstream of or within with a negative effect on reactive gliosis and regulation of spontaneous synaptic transmission. Acts upstream of or within several processes, including circulatory system development; neuron projection morphogenesis; and regulation of transmembrane transport. Located in several cellular components, including intercalated disc; myelin sheath abaxonal region; and sarcolemma. Part of integrin alpha7-beta1 complex and integrin alpha9-beta1 complex. Is active in Schaffer collateral - CA1 synapse; cerebellar climbing fiber to Purkinje cell synapse; and synaptic membrane. Colocalizes with cytoplasmic vesicle; perinuclear region of cytoplasm; and plasma membrane. Is expressed in several structures, including alimentary system; brain; eye; genitourinary system; and heart. Used to study Hirschsprung's disease. Orthologous to human ITGB1 (integrin subunit beta 1). [provided by Alliance of Genome Resources, Apr 2025]

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rtholog); Acute Otitis Media (ortholog); Animal Mammary Neoplasms (ortholog); FOUND IN basement membrane (ortholog); extracellular matrix (ortholog); extracellular space (ortholog)

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rtholog); Acute Otitis Media (ortholog); Animal Mammary Neoplasms (ortholog); FOUND IN basement membrane (ortholog); extracellular matrix (ortholog); extracellular space (ortholog); INTERACTS WITH 4-methylumbelliferone; anthra[1,9-cd]pyrazol-6(2H)-one; arecoline

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IN syndecan signaling pathway; ASSOCIATED WITH acute kidney failure (ortholog); Acute Otitis Media (ortholog); Animal Mammary Neoplasms (ortholog); FOUND IN apical plasma membrane (ortholog); basement membrane (ortholog); endoplasmic reticulum-Golgi intermediate compartment (ortholog)

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signaling pathway; ASSOCIATED WITH acute kidney failure (ortholog); Acute Otitis Media (ortholog); Animal Mammary Neoplasms (ortholog); FOUND IN apical plasma membrane (ortholog); basement membrane (ortholog); endoplasmic reticulum-Golgi intermediate compartment (ortholog)

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, Jul 2025]

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alenol

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lgeranyltransferase complex; microtubule associated complex (ortholog); protein farnesyltransferase complex (ortholog); INTERACTS WITH (+)-schisandrin B; (S)-(-)-perillyl alcohol; 2,4-dinitrotoluene

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subunits. This gene encodes the alpha subunit of these transferases. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 11 and 13. [provided by RefSeq, May 2010]

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ation of apoptotic process (ortholog); FOUND IN CAAX-protein geranylgeranyltransferase complex (ortholog)

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ulation of apoptotic process (ortholog); FOUND IN CAAX-protein geranylgeranyltransferase complex (ortholog); microtubule associated complex (ortholog)

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disorder (ortholog); Hereditary Neoplastic Syndromes (ortholog); FOUND IN microtubule associated complex (ortholog); protein farnesyltransferase complex (ortholog); INTERACTS WITH (S)-(-)-perillyl alcohol; 1,2,4-trimethylbenzene; 17beta-estradiol

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erase complex. Implicated in anxiety disorder. [provided by Alliance of Genome Resources, Jul 2025]

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on of cell cycle (ortholog); ASSOCIATED WITH anxiety disorder (ortholog); Hereditary Neoplastic Syndromes (ortholog); FOUND IN microtubule associated complex (inferred); protein farnesyltransferase complex (inferred)

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on of cell cycle (ortholog); ASSOCIATED WITH anxiety disorder (ortholog); Hereditary Neoplastic Syndromes (ortholog); FOUND IN microtubule associated complex (inferred); protein farnesyltransferase complex (inferred)

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n of cell cycle (ortholog); ASSOCIATED WITH anxiety disorder (ortholog); Hereditary Neoplastic Syndromes (ortholog); FOUND IN microtubule associated complex (ortholog)

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n of cell cycle (ortholog); ASSOCIATED WITH anxiety disorder (ortholog); FOUND IN microtubule associated complex (ortholog); protein farnesyltransferase complex (ortholog)

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n FNBP1 (formin binding protein 1). [provided by Alliance of Genome Resources, Apr 2025]

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a role in the maintenance of membrane curvature at sites of nascent vesicle formation. Naturally occurring mutations in this gene are associated with Waardenburg anophthalmia syndrome. [provided by RefSeq, Apr 2017]

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

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fibronectin type III domain containing 4). [provided by Alliance of Genome Resources, Jul 2025]

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oxynivalenol; zearalenone

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c reticulum (ortholog); extracellular region (ortholog); plasma membrane (ortholog); INTERACTS WITH (R)-noradrenaline; 17beta-estradiol; 17beta-estradiol 3-benzoate

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n from skeletal muscle is induced by exercise. The ectopic expression of the encoded protein in mice causes an elevation of irisin in blood and improves metabolic health. [provided by RefSeq, Jul 2016]

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ma membrane (ortholog)

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es, including immature B cell differentiation; negative regulation of TOR signaling; and positive regulation of B cell apoptotic process. Located in cytoplasm. Human ortholog(s) of this gene implicated in immunodeficiency 93. Orthologous to human FNIP1 (folliculin interacting protein 1). [provided by Alliance of Genome Resources, Jul 2025]

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pathway; ASSOCIATED WITH genetic disease (ortholog); immunodeficiency 93 (ortholog); Wolff-Parkinson-White syndrome (ortholog); FOUND IN cytoplasm (ortholog); cytosol (ortholog); FNIP-folliculin RagC/D GAP (ortholog); INTERACTS WITH 17beta-estradiol; acetamide; amitrole

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PARTICIPATES IN mTOR signaling pathway; ASSOCIATED WITH genetic disease (ortholog); immunodeficiency 93 (ortholog); Wolff-Parkinson-White syndrome (ortholog); FOUND IN cytoplasm (inferred); cytosol (inferred); FNIP-folliculin RagC/D GAP (inferred)

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PARTICIPATES IN mTOR signaling pathway; ASSOCIATED WITH genetic disease (ortholog); immunodeficiency 93 (ortholog); Wolff-Parkinson-White syndrome (ortholog); FOUND IN cytoplasm (ortholog)

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PARTICIPATES IN mTOR signaling pathway; ASSOCIATED WITH genetic disease (ortholog); immunodeficiency 93 (ortholog); Wolff-Parkinson-White syndrome (ortholog); FOUND IN cytoplasm (inferred); cytosol (inferred); FNIP-folliculin RagC/D GAP (inferred)

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ption by RNA polymerase II (ortholog); PARTICIPATES IN mTOR signaling pathway; ASSOCIATED WITH Leukoencephalopathies (ortholog); FOUND IN centriolar satellite (ortholog); cytoplasm (ortholog); cytosol (ortholog); INTERACTS WITH 17alpha-ethynylestradiol; 17beta-estradiol; 2,3,4,7,8-Pentachlorodibenzofuran

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ulating the O6-methylguanine-induced apoptosis signaling pathway. This gene has a closely related paralog that encodes a protein with similar binding activities. Both related proteins also associate with the molecular chaperone heat shock protein-90 (Hsp90) and negatively regulate its ATPase activity and facilitate its association with folliculin. [provided by RefSeq, Jul 2017]

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pathway; ASSOCIATED WITH Leukoencephalopathies (ortholog); FOUND IN centriolar satellite (inferred); cytoplasm (inferred); cytosol (inferred)

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ption by RNA polymerase II (ortholog); PARTICIPATES IN mTOR signaling pathway; ASSOCIATED WITH Leukoencephalopathies (ortholog); FOUND IN cytoplasm (ortholog)

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pathway; ASSOCIATED WITH Leukoencephalopathies (ortholog); FOUND IN centriolar satellite (inferred); cytoplasm (inferred); cytosol (inferred)

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cription by RNA polymerase II (inferred); FOUND IN nucleus (inferred); INTERACTS WITH (+)-schisandrin B; 2,2',5,5'-tetrachlorobiphenyl; bisphenol A

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pared to the neighboring gene which encodes a highly similar enzyme, fructosamine-3-kinase, which has different substrate specificity. The activity of both enzymes may result in deglycation of proteins to restore their function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

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holog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 6-propyl-2-thiouracil; acrylamide

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cytoplasmic vesicle and cytosol. Is expressed in central nervous system; dorsal root ganglion; gut; male reproductive gland or organ; and neural retina. Orthologous to human FNBP1L (formin binding protein 1 like). [provided by Alliance of Genome Resources, Jul 2025]

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iance of Genome Resources, Jul 2025]

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; FOUND IN endoplasmic reticulum (ortholog)

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; FOUND IN endoplasmic reticulum (ortholog)

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; FOUND IN endoplasmic reticulum (ortholog)

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; FOUND IN endoplasmic reticulum (ortholog)

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; FOUND IN endoplasmic reticulum (ortholog)

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sequence identity with each individual gene product. [provided by RefSeq, Feb 2011]

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WITH breast carcinoma (ortholog); COVID-19 (ortholog); ovary epithelial cancer (ortholog); FOUND IN dendrite; neuronal cell body; centrosome (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,4-dinitrotoluene; 4-amino-2,6-dinitrotoluene

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lular localization signal. Polo-like kinases are important regulators of cell cycle progression. This gene has also been implicated in stress responses and double-strand break repair. In human cell lines, this protein is reported to associate with centrosomes in a microtubule-dependent manner, and during mitosis, the protein becomes localized to the mitotic apparatus. Expression of a kinase-defective mutant results in abnormal cell morphology caused by changes in microtubule dynamics and mitotic arrest followed by apoptosis. [provided by RefSeq, Sep 2015]

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rane. Is active in dendritic spine; glutamatergic synapse; and postsynaptic density. Is expressed in several structures, including central nervous system; dorsal root ganglion; heart; and sensory organ. Orthologous to human SRGAP2 (SLIT-ROBO Rho GTPase activating protein 2). [provided by Alliance of Genome Resources, Jul 2025]

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in several structures, including central nervous system; hemolymphoid system gland; liver; reproductive system; and urinary system. Orthologous to human ZFP1 (ZFP1 zinc finger protein). [provided by Alliance of Genome Resources, Apr 2025]

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nd regulation of immune system process. Predicted to be located in nucleus. Predicted to be active in nucleoplasm. Is expressed in central nervous system and genitourinary system. Orthologous to human ZFP3 (ZFP3 zinc finger protein). [provided by Alliance of Genome Resources, Jul 2025]

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es. Mutations in this gene also cause a form of frontonasal dysplasia with alopecia and hypogonadism; suggesting a role for this gene in craniofacial development, mesenchymal-epithelial communication, and hair follicle development. Deletion of a segment of chromosome 11 containing this gene, del(11)(p11p12), causes Potocki-Shaffer syndrome (PSS); a syndrome characterized by craniofacial anomalies, cognitive disability, multiple exostoses, and genital abnormalities in males. In mouse, this gene has been shown to use dual translation initiation sites located 16 codons apart. [provided by RefSeq, Oct 2009]

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le reproductive gland or organ; metanephros; skin; and thymus. Orthologous to human IL20RB (interleukin 20 receptor subunit beta). [provided by Alliance of Genome Resources, Jul 2025]

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nd heavy chains that comprise the alpha 5 subunit. This subunit associates with the beta 1 subunit to form a fibronectin receptor. This integrin may promote tumor invasion, and higher expression of this gene may be correlated with shorter survival time in lung cancer patients. Note that the integrin alpha 5 and integrin alpha V subunits are encoded by distinct genes. [provided by RefSeq, Oct 2015]

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mplex (inferred)

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hosis (ortholog); FOUND IN cell surface (ortholog); plasma membrane (ortholog); ruffle (ortholog); INTERACTS WITH (+)-schisandrin B; 1,3-dinitrobenzene; 1-naphthyl isothiocyanate

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rane (inferred); plasma membrane (inferred); INTERACTS WITH deoxynivalenol; dichlorine

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rhythm and cell differentiation. Defects in this gene are associated with the short sleep phenotype. [provided by RefSeq, Feb 2014]

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y epithelium and in bronchial smooth muscle cells is associated with asthma. Polymorphisms in this gene have also been associated with asthma susceptibility, panic disorders, inflammatory bowel disease, and rheumatoid arthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

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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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ecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 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 DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. [provided by RefSeq, Jul 2008]

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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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units. Two conserved estrogen receptor binding sites are located within 2.5 kb of this gene. Polymorphisms in this gene have been associated with bipolar disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016]

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ubiquitin-dependent protein catabolic process; and regulation of blastocyst development. Located in cytosol. Is expressed in brain; early embryo; nose; and trigeminal ganglion. Orthologous to human AGBL4 (AGBL carboxypeptidase 4). [provided by Alliance of Genome Resources, Jul 2025]

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hiouracil

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rovided by RefSeq, Aug 2016]

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D WITH achromatopsia (ortholog); achromatopsia 7 (ortholog); asbestosis (ortholog); FOUND IN endoplasmic reticulum (inferred); endoplasmic reticulum membrane (inferred); Golgi apparatus (inferred); INTERACTS WITH 3-acetyldeoxynivalenol; 4-phenylbutyric acid; benzo[a]pyrene

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nset dystonia and/or spastic paraplegia (ortholog); genetic disease (ortholog); FOUND IN cation channel complex; mitochondrion (ortholog); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2,6-dinitrotoluene

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rotein may play a role in epithelial cell cancer and in vaso-occlusion of red blood cells in sickle cell disease. Polymorphisms in this gene define some of the antigens in the Lutheran system and also the Auberger system. Inactivating variants of this gene result in the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

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N Bone morphogenetic proteins signaling pathway; ASSOCIATED WITH atrial heart septal defect 1 (ortholog); bone disease (ortholog); Bone Fractures (ortholog); FOUND IN extracellular space (ortholog); protein-containing complex (ortholog); vesicle (ortholog); INTERACTS WITH leptomycin B; warfarin; zearalenone

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ion (ortholog); PARTICIPATES IN cell cycle pathway, mitotic; mitotic spindle checkpoint pathway; ASSOCIATED WITH Aneuploidy (ortholog); cerebral palsy (ortholog); colon carcinoma (ortholog); FOUND IN cytoplasm (ortholog); cytosol (ortholog); kinetochore (ortholog); INTERACTS WITH 1-naphthyl isothiocyanate; 17alpha-ethynylestradiol; 17beta-estradiol

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receptor inner segment; axoneme (ortholog); centriolar satellite (ortholog)

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endent kinase 17). [provided by Alliance of Genome Resources, Jul 2025]

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ted collagen polypeptide may have achieved a different function as suggested by PubMed ID: 18622395. Evidence of in vivo translation is incomplete. A large chromosome break separates this pseudogene from the 3' end of the presumed ortholog (COL6A4P2, GeneID 646300) which is located downstream at chromosome 3q21.3. [provided by RefSeq, Jun 2009]

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olog); RNA polymerase II transcription regulator complex (ortholog); INTERACTS WITH 1-naphthyl isothiocyanate; 2,3,7,8-tetrachlorodibenzodioxine; bisphenol A

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ry disease (ortholog); FOUND IN cell surface (ortholog); membrane (ortholog)

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complex III deficiency nuclear type 1 (ortholog); mitochondrial complex III deficiency nuclear type 6 (ortholog); FOUND IN mitochondrial inner membrane (ortholog); mitochondrion (ortholog); respiratory chain complex III (ortholog); INTERACTS WITH 17beta-estradiol; 2,2,2-tetramine; 2,3,7,8-tetrachlorodibenzodioxine

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TES IN altered nucleotide excision repair pathway; nucleotide excision repair pathway; ubiquitin/proteasome degradation pathway; ASSOCIATED WITH Chemical and Drug Induced Liver Injury (ortholog); communication disorder (ortholog); congenital heart disease (ortholog); FOUND IN Cul4-RING E3 ubiquitin ligase complex (ortholog); Cul4A-RING E3 ubiquitin ligase complex (ortholog); Cul4B-RING E3 ubiquitin ligase complex (ortholog); INTERACTS WITH 1,3-dinitrobenzene; 2,3,7,8-tetrachlorodibenzodioxine; 2,6-dinitrotoluene

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inal sarcoplasmic reticulum (ortholog); sarcoplasmic reticulum membrane (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,3,7,8-Tetrachlorodibenzofuran; aconitine

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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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encoded by this gene is a nuclear target for the ras-raf-MAPK signaling cascade. This gene may produce multiple isoforms by the use of alternative translational start codons. [provided by RefSeq, Mar 2012]

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polymerase II; and positive regulation of transcription by RNA polymerase II. Predicted to be located in cytosol and nucleoplasm. Predicted to be active in nucleus. Is expressed in several structures, including central nervous system; genitourinary system; hemolymphoid system; and retina. Orthologous to human ELK4 (ETS transcription factor ELK4). [provided by Alliance of Genome Resources, Jul 2025]

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athway (ortholog); PARTICIPATES IN keratan sulfate biosynthetic pathway; N-linked glycan biosynthetic pathway; ASSOCIATED WITH Congenital Disorder of Glycosylation with Defective Fucosylation 1 (ortholog); genetic disease (ortholog); pulmonary emphysema (ortholog); FOUND IN Golgi cisterna membrane (inferred); membrane (inferred); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2,4-dinitrotoluene

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via orexin/hypocretin receptor 1; orexin/hypocretin signaling pathway; ASSOCIATED WITH Cocaine-Related Disorders (ortholog); withdrawal disorder (ortholog); FOUND IN plasma membrane (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 6-propyl-2-thiouracil; ammonium chloride

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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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cules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and it contains six exons. Exon 1 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 DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]

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lecules are expressed in antigen presenting cells. The beta chain is approximately 26-28 kDa and its gene contains 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. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. There are multiple pseudogenes of this gene. [provided by RefSeq, Feb 2020]

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ndle of His development (ortholog); PARTICIPATES IN hypoxia inducible factor pathway; ASSOCIATED WITH acute myeloid leukemia (ortholog); Arsenic Poisoning (ortholog); Experimental Liver Cirrhosis (ortholog); FOUND IN chromatin (ortholog); cytoplasm (ortholog); protein-containing complex (ortholog); INTERACTS WITH deoxynivalenol; graphene oxide; ochratoxin A

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tion, this gene is a candidate tumor suppressor and is located in the critical region of loss of heterozygosity (LOH). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2015]

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functions syndrome (ortholog); FOUND IN iron-sulfur cluster assembly complex (ortholog); mitochondrial [4Fe-4S] assembly complex (ortholog); mitochondrion (ortholog); INTERACTS WITH 17alpha-ethynylestradiol; 2,6-dinitrotoluene; 6-propyl-2-thiouracil

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f the neprilysin (M13) family of zinc endopeptidases. [provided by RefSeq, Jul 2008]

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ene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

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sphorylation, this protein recruits multiple adaptor proteins and downstream signaling molecules into multimolecular signaling complexes located near the site of TCR engagement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

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milar protein in mouse plays a role in normal T-cell development and activation. Mice lacking this gene show subcutaneous and intraperitoneal fetal hemorrhaging, dysfunctional platelets and impaired viability. [provided by RefSeq, Nov 2016]

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penditure. This protein also has several endocrine functions, and is involved in the regulation of immune and inflammatory responses, hematopoiesis, angiogenesis, reproduction, bone formation and wound healing. Mutations in this gene and its regulatory regions cause severe obesity and morbid obesity with hypogonadism in human patients. A mutation in this gene has also been linked to type 2 diabetes mellitus development. [provided by RefSeq, Aug 2017]

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the formation and maintenance of adult intestinal stem cells during postembryonic development. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]

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his gene, mediator complex subunit 12 (MED12), along with MED13, CDK8 kinase, and cyclin C. The CDK8 subcomplex modulates Mediator-polymerase II interactions and thereby regulates transcription initiation and reinitation rates. The MED12 protein is essential for activating CDK8 kinase. Defects in this gene cause X-linked Opitz-Kaveggia syndrome, also known as FG syndrome, and Lujan-Fryns syndrome. [provided by RefSeq, Aug 2009]

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nse to glucose stimulus (ortholog); dendrite morphogenesis (ortholog); ASSOCIATED WITH Coronary Artery Disease, Autosomal Dominant 1 (ortholog); dilated cardiomyopathy (ortholog); Experimental Diabetes Mellitus (ortholog); FOUND IN nucleus (ortholog)

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utism spectrum disorder (ortholog); autistic disorder (ortholog); dilated cardiomyopathy (ortholog); FOUND IN cytoplasm (ortholog); cytosol (ortholog); nuclear speck (ortholog)

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tochondria fission pathway; ASSOCIATED WITH transient cerebral ischemia; encephalopathy due to defective mitochondrial and peroxisomal fission 2 (ortholog); genetic disease (ortholog); FOUND IN mitochondrial membrane; synaptic vesicle; synaptic vesicle membrane; INTERACTS WITH atrazine; benzo[a]pyrene; bisphenol A

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N mitochondrial matrix; mitochondrion (ortholog); INTERACTS WITH (+)-schisandrin B; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine

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y; myocarditis pathway; ASSOCIATED WITH Carotid Artery Injuries; metabolic acidosis; AIDS-Associated Nephropathy (ortholog); FOUND IN actin filament; apical plasma membrane; brush border; INTERACTS WITH (+)-schisandrin B; 1-naphthyl isothiocyanate; 17beta-estradiol 3-benzoate

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sm (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 6-propyl-2-thiouracil; acrylamide

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naling pathway (ortholog); PARTICIPATES IN adenosine signaling pathway; ceramide signaling pathway; interleukin-23 signaling pathway; ASSOCIATED WITH acute necrotizing pancreatitis (ortholog); Adenoviridae Infections (ortholog); alcoholic hepatitis (ortholog); FOUND IN cytoplasm (ortholog); nucleus (ortholog); protein-containing complex (ortholog); INTERACTS WITH cadmium atom; cadmium dichloride; carbon monoxide

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ore complex. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 7 and 10. [provided by RefSeq, Dec 2013]

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e S-nitrosylation. Located in mitochondrion. Implicated in cerebellar hyplasia/atrophy, epilepsy, and global developmental delay. [provided by Alliance of Genome Resources, Apr 2025]

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og); INTERACTS WITH (+)-schisandrin B; 17alpha-ethynylestradiol; 17beta-estradiol

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; ASSOCIATED WITH genetic disease (ortholog); obesity (ortholog); Prostatic Neoplasms (ortholog); FOUND IN mitochondrion; INTERACTS WITH (+)-schisandrin B; 2,3,7,8-tetrachlorodibenzodioxine; 2,4-dinitrotoluene

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is pathway; ASSOCIATED WITH Experimental Diabetes Mellitus (ortholog); genetic disease (ortholog); glycogen storage disease (ortholog); FOUND IN 6-phosphofructokinase complex (ortholog); apical plasma membrane (ortholog); cytosol (ortholog); INTERACTS WITH 17alpha-ethynylestradiol; 2,3,7,8-Tetrachlorodibenzofuran; 2,4-D

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cy pathway; gluconeogenesis pathway; ASSOCIATED WITH adenocarcinoma (ortholog); Animal Mammary Neoplasms (ortholog); carcinoma (ortholog); FOUND IN neuronal cell body; nucleus; ooplasm; INTERACTS WITH (R,R,R)-alpha-tocopherol; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine

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r desmosome-dependent adhesion and signaling pathways. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]

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e response to virus (ortholog); PARTICIPATES IN mitogen activated protein kinase signaling pathway; ASSOCIATED WITH hypotonia-cystinuria syndrome (ortholog); Lynch syndrome (ortholog); Myocardial Ischemia (ortholog); FOUND IN cytosol (ortholog); membrane (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 3H-1,2-dithiole-3-thione; aconitine

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ortholog); PARTICIPATES IN calcineurin signaling pathway; dopamine signaling pathway; interleukin-12 signaling pathway; ASSOCIATED WITH aortic valve stenosis (ortholog); focal segmental glomerulosclerosis (ortholog); Left Ventricular Hypertrophy (ortholog); FOUND IN calcineurin complex (ortholog); protein-containing complex (ortholog); synapse (ortholog)

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N protein kinase A (PKA) signaling pathway; ASSOCIATED WITH congestive heart failure (ortholog); granulosa cell tumor (ortholog); obesity (ortholog); FOUND IN cAMP-dependent protein kinase complex (ortholog); dendrite (ortholog); neuronal cell body (ortholog); INTERACTS WITH deoxynivalenol

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sm (inferred); cytoplasmic side of plasma membrane (inferred); INTERACTS WITH deoxynivalenol

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stimulus (ortholog); cellular response to lipopolysaccharide (ortholog); PARTICIPATES IN ceramide signaling pathway; interleukin-1 signaling pathway; interleukin-12 signaling pathway; ASSOCIATED WITH acute necrotizing pancreatitis (ortholog); adenocarcinoma (ortholog); alcohol dependence (ortholog); FOUND IN chromatin (ortholog); cytoplasm (ortholog); nucleolus (ortholog); INTERACTS WITH 1,3-thiazolidine-2,4-dione; 3,3',4,4'-tetrachlorobiphenyl; bisphenol A

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WITH Breast Neoplasms (ortholog); FOUND IN ribosome; cytoplasmic ribonucleoprotein granule (ortholog); cytosolic ribosome (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,4-dinitrotoluene; 2-nitrofluorene

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hate signaling pathway; FOUND IN plasma membrane (ortholog); presynapse (ortholog); INTERACTS WITH acetamide; aldehydo-D-glucose; ammonium chloride

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s (ortholog); FOUND IN endoplasmic reticulum membrane (inferred); INTERACTS WITH (+)-schisandrin B; 1-naphthyl isothiocyanate; 2,3,7,8-tetrachlorodibenzodioxine

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nd for this gene; some variants represent read-through transcripts that include exons from the upstream gene C17orf86. [provided by RefSeq, Feb 2011]

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bril organization (ortholog); ASSOCIATED WITH osteogenesis imperfecta type 10; adult respiratory distress syndrome (ortholog); BCARD syndrome (ortholog); FOUND IN cytoplasm (inferred); endoplasmic reticulum (inferred); endoplasmic reticulum lumen (inferred)

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e pulmonary disease (ortholog); Coxsackievirus Infections (ortholog); Enterovirus Infections (ortholog); FOUND IN apical plasma membrane (ortholog); mitochondrion (ortholog); neuronal cell body (ortholog)

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enital disorder of glycosylation type IIm (ortholog); FOUND IN Golgi apparatus (ortholog); Golgi membrane (ortholog)

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isorder (ortholog); chronic kidney disease (ortholog); congenital secretory sodium diarrhea 8 (ortholog); FOUND IN apical plasma membrane (ortholog); brush border (ortholog); brush border membrane (ortholog); INTERACTS WITH ammonia

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s (Swyer syndrome); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome. [provided by RefSeq, Jul 2008]

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tact dermatitis (ortholog); hepatocellular carcinoma (ortholog); FOUND IN Golgi medial cisterna (ortholog); Golgi trans cisterna (ortholog)

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WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,6-dinitrotoluene; 3-chloropropane-1,2-diol