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he 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. In addition to participation in proteasome functions, this subunit may participate in transcriptional regulation since it has been shown to interact with the thyroid hormone receptor and retinoid X receptor-alpha. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]

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The protein belongs to the S8E family of ribosomal proteins. It is located in the cytoplasm. Increased expression of this gene in colorectal tumors and colon polyps compared to matched normal colonic mucosa has been observed. This gene is co-transcribed with the small nucleolar RNA genes U38A, U38B, U39, and U40, which are located in its fourth, fifth, first, and second introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]

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S8 (ribosomal protein S8). [provided by Alliance of Genome Resources, Jul 2025]

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og); FOUND IN cytosol (ortholog); cytosolic ribosome (ortholog); cytosolic small ribosomal subunit (ortholog)

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og); FOUND IN cytosol (ortholog); cytosolic ribosome (ortholog); cytosolic small ribosomal subunit (ortholog)

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og); Weight Gain (ortholog); FOUND IN cytosolic small ribosomal subunit (ortholog)

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og); FOUND IN cytosol (ortholog); cytosolic ribosome (ortholog); cytosolic small ribosomal subunit (ortholog)

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loroethene

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x to eight iron-sulfur clusters of Complex I and, as such, is required in the electron transfer process. Mutations in this gene have been associated with Leigh syndrome. [provided by RefSeq, Mar 2010]

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tholog); Leigh disease (ortholog); mitochondrial complex I deficiency (ortholog); FOUND IN mitochondrial inner membrane (ortholog); mitochondrion (ortholog); respiratory chain complex I (ortholog)

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log); FOUND IN mitochondrial inner membrane (ortholog)

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(ortholog); Leigh disease (ortholog); mitochondrial complex I deficiency (ortholog); FOUND IN membrane (inferred); mitochondrial inner membrane (inferred); mitochondrion (inferred)

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OCIATED WITH genetic disease (ortholog); Leigh disease (ortholog); mitochondrial complex I deficiency (ortholog); FOUND IN mitochondrial inner membrane (ortholog); respiratory chain complex I (ortholog)

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s in this gene are a cause of alpha-2-macroglobulin deficiency. This gene is implicated in Alzheimer's disease (AD) due to its ability to mediate the clearance and degradation of A-beta, the major component of beta-amyloid deposits. A related pseudogene, which is also located on the p arm of chromosome 12, has been identified. [provided by RefSeq, Nov 2016]

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Sin3-type complex; and nucleosome. [provided by Alliance of Genome Resources, Jul 2025]

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log); Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia (ortholog); Desbuquois dysplasia (ortholog); FOUND IN extracellular space (ortholog); lysosome (ortholog); INTERACTS WITH deoxynivalenol

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cardiac ischemia, it is involved in the inhibition of neutrophil degranulation in neutrophil-mediated tissue injury, it has been implicated in both neuroprotective and neurodegenerative effects, and it may also mediate both cell proliferation and cell death. Alternative splicing results in multiple transcript variants. This gene shares its 5' terminal exon with some transcripts from overlapping GeneID:57413, which encodes an immunoglobulin domain-containing protein. [provided by RefSeq, Nov 2014]

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Is expressed in central nervous system; heart; retina; and testis. Orthologous to human ADRA1B (adrenoceptor alpha 1B). [provided by Alliance of Genome Resources, Jul 2025]

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ly spliced transcript variants encoding different isoforms have been described for this gene, however, not all have been fully characterized.[provided by RefSeq, May 2011]

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al swelling in the gracile nucleus and impaired neuromotor coordination. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Oct 2015]

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ight lobe; and lung vascular element. Orthologous to human ALOX12 (arachidonate 12-lipoxygenase, 12S type). [provided by Alliance of Genome Resources, Jul 2025]

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ifferent affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 1, the prototype of this family, was first discovered in the erythrocytes, but since has also been found in brain and muscles. Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all patients with hereditary spherocytosis. Complex patterns of alternative splicing in the regulatory domain, giving rise to different isoforms of ankyrin 1 have been described. Truncated muscle-specific isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been identified. [provided by RefSeq, Dec 2008]

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lism, and ablation of this gene results in defects in triglyceride metabolism. Elevated levels of this gene product have been observed in multiple tissues of Niemann-Pick disease mouse models, as well as in some tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

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ed cofactor for anionic phospholipid binding by the antiphospholipid autoantibodies found in sera of many patients with lupus and primary antiphospholipid syndrome (APS). The anti-beta (2) glycoprotein I antibodies from APS patients, mediate inhibition of activated protein C which has anticoagulant properties. Because beta-2-GPI is the main autoantigen in patients with APS, the disruption of this pathway by autoantibodies may be an important mechanism for thrombosis in patients with APS.[provided by RefSeq, Dec 2019]

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resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis. [provided by RefSeq, Sep 2009]

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lytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the delta subunit of the catalytic core. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]

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essin signaling pathway; vasopressin signaling pathway via receptor type 1; ASSOCIATED WITH acute kidney failure; brain edema; Brain Injuries; FOUND IN endocytic vesicle (ortholog); endosome (ortholog); plasma membrane (ortholog); INTERACTS WITH (+)-schisandrin B; 17alpha-ethynylestradiol; 17beta-estradiol

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is of the Cad antigen (Montiel et al., 2003 [PubMed 12678917]).[supplied by OMIM, Mar 2008]

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ion into the extracellular matrix. Mice lacking the encoded protein exhibit reduced growth rate and acquire diminished bone mass progressively with age. [provided by RefSeq, Oct 2015]

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proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. Polymorphisms in this gene may be associated with osteoarthritis in human patients. This gene is differentially regulated in multiple human cancers. This gene encodes distinct protein isoforms that may be similarly proteolytically processed. [provided by RefSeq, Jul 2016]

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ourinary system; and heart valve. Orthologous to human BTN1A1 (butyrophilin subfamily 1 member A1). [provided by Alliance of Genome Resources, Jul 2025]

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inal fluid, saliva and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This CA1 gene is closely linked to the CA2 and CA3 genes on chromosome 8. It encodes a cytosolic protein that is found at the highest level in erythrocytes. Allelic variants of this gene have been described in some populations. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Nov 2016]

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TES IN calcium/calmodulin dependent kinase 2 signaling pathway; type II interferon signaling pathway; calcium/calcium-mediated signaling pathway; ASSOCIATED WITH seizures; ASSOCIATED WITH Cardiomegaly; epilepsy; myocardial infarction; FOUND IN cytoplasm; nucleus; perinuclear region of cytoplasm; INTERACTS WITH (-)-epigallocatechin 3-gallate; (R,R,R)-alpha-tocopherol; 1-naphthyl isothiocyanate

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us this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene are a cause of familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. [provided by RefSeq, Aug 2017]

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way; ASSOCIATED WITH CD3epsilon deficiency (ortholog); Experimental Diabetes Mellitus (ortholog); gastrointestinal stromal tumor (ortholog); FOUND IN plasma membrane (ortholog); INTERACTS WITH ammonia

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to plasma membrane. Acts upstream of or within several processes, including chemical synaptic transmission; nervous system development; and protein phosphorylation. Located in several cellular components, including axon; filopodium; and lamellipodium. Part of protein kinase 5 complex. Is expressed in several structures, including alimentary system; genitourinary system; limb; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in Alzheimer's disease and lissencephaly 7 with cerebellar hypoplasia. Orthologous to human CDK5 (cyclin dependent kinase 5). [provided by Alliance of Genome Resources, Jul 2025]

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oliferation; and positive regulation of apoptotic process. Acts upstream of or within several processes, including keratinocyte proliferation; negative regulation of mammary gland epithelial cell proliferation; and negative regulation of protein metabolic process. Located in cytoplasm and granular component. Part of protein-containing complex. Is expressed in several structures, including central nervous system; eye; genitourinary system; immune system; and umbilical artery. Used to study high grade glioma; malignant peripheral nerve sheath tumor; melanoma (multiple); and pancreatic carcinoma (multiple). Human ortholog(s) of this gene implicated in several diseases, including breast cancer (multiple); carcinoma (multiple); hematologic cancer (multiple); high grade glioma (multiple); and melanoma (multiple). Orthologous to human CDKN2A (cyclin dependent kinase inhibitor 2A). [provided by Alliance of Genome Resources, Apr 2025]

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by cycles of regulatory domain phosphorylation, ATP-binding by the nucleotide-binding domains, and ATP hydrolysis. Mutations in this gene cause cystic fibrosis, the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseudogenes have been identified in the human genome. [provided by RefSeq, Aug 2017]

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in the kidney and may be important for renal salt reabsorption. Mutations in this gene are associated with autosomal recessive Bartter syndrome type 3 (BS3). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

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d in contraction. [provided by RefSeq, Jul 2008]

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nes. In the sperm, the postacrosomal region or equatorial segment is involved in sperm-egg plasma membrane fusion. The protein encoded by this gene is a member of the cysteine-rich secretory protein (CRISP) family. It is expressed in the epididymis, is secreted into the epididymal lumen, and binds to the postacrosomal region of the sperm head, where it plays a role in sperm-egg fusion. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

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008]

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es the last steps of estrogen biosynthesis. Mutations in this gene can result in either increased or decreased aromatase activity; the associated phenotypes suggest that estrogen functions both as a sex steroid hormone and in growth or differentiation. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]

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5]

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onse to growth factor stimulus (ortholog); PARTICIPATES IN alkaptonuria pathway; aromatic L-amino acid decarboxylase deficiency pathway; catecholamine biosynthetic pathway; ASSOCIATED WITH aromatic L-amino acid decarboxylase deficiency (ortholog); bipolar disorder (ortholog); Developmental Disabilities (ortholog); FOUND IN axon (ortholog); neuronal cell body (ortholog); synaptic vesicle (ortholog); INTERACTS WITH deoxynivalenol

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autistic disorder (ortholog); Craniofacial Abnormalities (ortholog); FOUND IN nucleus (ortholog); INTERACTS WITH 2,2',4,4'-Tetrabromodiphenyl ether; 2,3,7,8-tetrachlorodibenzodioxine; ammonium chloride

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matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene. [provided by RefSeq, Dec 2016]

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ilepsy (ortholog); genetic disease (ortholog); neuronal ceroid lipofuscinosis (ortholog); FOUND IN synaptic vesicle membrane; cytosol (ortholog); membrane (ortholog); INTERACTS WITH 17alpha-ethynylestradiol; 6-propyl-2-thiouracil; acetamide

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ng autonomic nervous system dysfunction, attention deficit/hyperactivity disorder, and the personality trait of novelty seeking. This gene contains a polymorphic number (2-10 copies) of tandem 48 nt repeats; the sequence shown contains four repeats. [provided by RefSeq, Jul 2008]

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cess; PARTICIPATES IN c-Jun N-terminal kinases MAPK signaling pathway; p38 MAPK signaling pathway; angiotensin II signaling pathway via AT2 receptor; ASSOCIATED WITH anti-basement membrane glomerulonephritis; Carotid Artery Injuries; diabetic encephalopathy; FOUND IN cytoplasm (ortholog); nucleus (ortholog); INTERACTS WITH 1,2,4-trimethylbenzene; 17alpha-ethynylestradiol; 17beta-estradiol

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ene have been linked to migraine headache resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

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ary system; and heart. Used to study congenital chylothorax. Orthologous to human ELK3 (ETS transcription factor ELK3). [provided by Alliance of Genome Resources, Jul 2025]

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he nucleus where it may form either a homodimer or a heterodimer with estrogen receptor 2. The protein encoded by this gene regulates the transcription of many estrogen-inducible genes that play a role in growth, metabolism, sexual development, gestation, and other reproductive functions and is expressed in many non-reproductive tissues. The receptor encoded by this gene plays a key role in breast cancer, endometrial cancer, and osteoporosis. This gene is reported to have dozens of transcript variants due to the use of alternate promoters and alternative splicing, however, the full-length nature of many of these variants remain uncertain. [provided by RefSeq, Jul 2020]

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s genes, and are involved in stem cell development, cell senescence and death, and tumorigenesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]

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c acid metabolic pathway; eicosanoid signaling pathway via peroxisome proliferator-activated receptor gamma; ASSOCIATED WITH hepatocellular carcinoma (ortholog); Myocardial Ischemia (ortholog); prostate cancer (ortholog); FOUND IN cytoplasm (ortholog); cytosol (ortholog); extracellular space (ortholog); INTERACTS WITH 1,3,4-thiadiazole; 1-naphthyl isothiocyanate; 17alpha-ethynylestradiol

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nses to pathogens. It interacts with IgA-opsonized targets and triggers several immunologic defense processes, including phagocytosis, antibody-dependent cell-mediated cytotoxicity, and stimulation of the release of inflammatory mediators. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

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ers, including dysfibrinogenemia, hypofibrinogenemia, afibrinogenemia and renal amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. [provided by RefSeq, Jan 2016]

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growth and invasion. This protein is a potent epithelial cell-specific growth factor, whose mitogenic activity is predominantly exhibited in keratinocytes but not in fibroblasts and endothelial cells. Studies of mouse and rat homologs of this gene implicated roles in morphogenesis of epithelium, reepithelialization of wounds, hair development and early lung organogenesis. [provided by RefSeq, Jul 2008]

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tative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]

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hymia; ASSOCIATED WITH Thymus Hyperplasia; alopecia (ortholog); autistic disorder (ortholog); FOUND IN nucleus (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,6-dinitrotoluene; alpha-Zearalanol

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of GABA-A receptors have been identified. [provided by RefSeq, Jul 2008]

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proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. Transcript variants derived from this gene that utilize alternative polyA signals have been described in the literature. [provided by RefSeq, Jul 2008]

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proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein has been shown to promote neural repair after stroke and may act as a tumor suppressor. [provided by RefSeq, Jul 2016]

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hway; G protein mediated signaling pathway via Galphas family; ASSOCIATED WITH abnormal locomotor behavior; abnormal motor coordination/balance; abnormal motor learning; ASSOCIATED WITH dystonia; traumatic brain injury; Dysarthria (ortholog); FOUND IN acrosomal vesicle; apical cytoplasm; ciliary necklace; INTERACTS WITH 6-propyl-2-thiouracil; alpha-Zearalanol; ammonium chloride

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failure (ortholog); Binge Drinking (ortholog); FOUND IN cytosol (ortholog); INTERACTS WITH cadmium atom; cadmium dichloride; CCCP

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tion pathway via cytochrome P450; ASSOCIATED WITH metabolic dysfunction-associated steatotic liver disease; colon adenocarcinoma (ortholog); Dwarfism (ortholog); FOUND IN mitochondrial matrix; mitochondrion (ortholog); peroxisome (ortholog); INTERACTS WITH 1,3-dinitrobenzene; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine

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llular protease binds hyaluronic acid and may play a role in the coagulation and fibrinolysis systems. Mutations in this gene are associated with nonmedullary thyroid cancer and susceptibility to venous thromboembolism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]

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from the endoplasmic reticulum lumen. 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, exon 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. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]

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es/macrophages, and plays a central role in the immune system and response by presenting peptides derived from extracellular proteins, in particular, pathogen-derived peptides to T cells. The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. DRA does not have polymorphisms in the peptide binding part and acts as the sole alpha chain for DRB1, DRB3, DRB4 and DRB5. [provided by RefSeq, Aug 2020]

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IATED WITH brain infarction; asthma (ortholog); atopic dermatitis (ortholog); FOUND IN cytoplasm (ortholog); cytosol (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,3,7,8-Tetrachlorodibenzofuran; allopurinol

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epithelium; and regulation of branching involved in prostate gland morphogenesis. Located in nucleus. Is expressed in several structures, including genitourinary system; hindgut; limb; limb bud; and tail. Used to study synpolydactyly. Human ortholog(s) of this gene implicated in brachydactyly-syndactyly syndrome; clubfoot; cryptorchidism; and dysostosis (multiple). Orthologous to human HOXD13 (homeobox D13). [provided by Alliance of Genome Resources, Jul 2025]

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TES IN bile acid biosynthetic pathway; cerebrotendinous xanthomatosis pathway; congenital bile acid synthesis defect pathway; ASSOCIATED WITH hypertension; COVID-19 (ortholog); D-bifunctional protein deficiency (ortholog); FOUND IN peroxisome; peroxisomal matrix (ortholog); INTERACTS WITH (+)-schisandrin B; 17alpha-ethynylestradiol; 17beta-estradiol

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eptor signaling pathway (ortholog); bone remodeling (ortholog); cellular response to alkaloid (ortholog); ASSOCIATED WITH alcohol dependence (ortholog); alcohol use disorder (ortholog); amphetamine abuse (ortholog); FOUND IN calyx of Held (ortholog); plasma membrane (ortholog); INTERACTS WITH capsaicin

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sulin-like growth factor I deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015]

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sforming growth factor beta, and the degradation of insulin-like growth factor 2. Mutation or loss of heterozygosity of this gene has been association with risk of hepatocellular carcinoma. The orthologous mouse gene is imprinted and shows exclusive expression from the maternal allele; however, imprinting of the human gene may be polymorphic, as only a minority of individuals showed biased expression from the maternal allele (PMID:8267611). [provided by RefSeq, Nov 2015]

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Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. Most isoforms share a common C-terminal domain, which contains two zinc finger motifs that are required for hetero- or homo-dimerization, and for interactions with other proteins. The isoforms, however, differ in the number of N-terminal zinc finger motifs that bind DNA and in nuclear localization signal presence, resulting in members with and without DNA-binding properties. Only a few isoforms contain the requisite three or more N-terminal zinc motifs that confer high affinity binding to a specific core DNA sequence element in the promoters of target genes. The non-DNA-binding isoforms are largely found in the cytoplasm, and are thought to function as dominant-negative factors. Overexpression of some dominant-negative isoforms have been associated with B-cell malignancies, such as acute lymphoblastic leukemia (ALL). [provided by RefSeq, May 2014]

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tively regulate each other's activity. The number of CD8+ memory cells is shown to be controlled by a balance between this cytokine and IL2. This cytokine induces the activation of JAK kinases, as well as the phosphorylation and activation of transcription activators STAT3, STAT5, and STAT6. Studies of the mouse counterpart suggested that this cytokine may increase the expression of apoptosis inhibitor BCL2L1/BCL-x(L), possibly through the transcription activation activity of STAT6, and thus prevent apoptosis. Alternatively spliced transcript variants of this gene have been reported. [provided by RefSeq, Feb 2011]

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es. This gene is located in a cluster of related cytokine receptor genes on chromosome 2q12. [provided by RefSeq, Dec 2013]

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tein is dependent upon the binding of cytokines to their receptors. vIL6, a protein related to IL6 and encoded by the Kaposi sarcoma-associated herpesvirus, can bypass the interleukin 6 receptor (IL6R) and directly activate this protein. Knockout studies in mice suggest that this gene plays a critical role in regulating myocyte apoptosis. Alternatively spliced transcript variants have been described. A related pseudogene has been identified on chromosome 17. [provided by RefSeq, May 2014]

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d protein forms dimers with an alpha4 chain or an alphaE chain and plays a role in leukocyte adhesion. Dimerization with alpha4 forms a homing receptor for migration of lymphocytes to the intestinal mucosa and Peyer's patches. Dimerization with alphaE permits binding to the ligand epithelial cadherin, a calcium-dependent adhesion molecule. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]

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us group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]

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tion; PARTICIPATES IN adenosine signaling pathway; endothelin signaling pathway; fibroblast growth factor signaling pathway; ASSOCIATED WITH Alcohol-Related Disorders (ortholog); angiosarcoma (ortholog); Asphyxia (ortholog); FOUND IN nucleus; chromatin (ortholog); protein-containing complex (ortholog); INTERACTS WITH cadmium atom; cadmium dichloride; clofibrate

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mostly noted for its continued requirement in hematopoiesis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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cated in a cluster on chromosome 19. It encodes a single-chain glycoprotein, a protease which is synthesized in the epithelial cells of the prostate gland, and is present in seminal plasma. It is thought to function normally in the liquefaction of seminal coagulum, presumably by hydrolysis of the high molecular mass seminal vesicle protein. The serum level of this protein, called PSA in the clinical setting, is useful in the diagnosis and monitoring of prostatic carcinoma. Alternate splicing of this gene generates several transcript variants encoding different isoforms. [provided by RefSeq, Dec 2019]

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tosis pathway; ASSOCIATED WITH cholesterol ester storage disease (ortholog); coronary artery disease (ortholog); COVID-19 (ortholog); FOUND IN lysosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 3,3',4,4',5-pentachlorobiphenyl; 3H-1,2-dithiole-3-thione

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tructures, including brain; genitourinary system; heart; liver; and skeletal muscle. Human ortholog(s) of this gene implicated in French Canadian Leigh disease and Leigh disease. Orthologous to human LRPPRC (leucine rich pentatricopeptide repeat containing). [provided by Alliance of Genome Resources, Jul 2025]

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y to the fibrillins. It has thus been suggested that it may have multiple functions: as a member of the TGF-beta latent complex, as a structural component of microfibrils, and a role in cell adhesion. [provided by RefSeq, Jul 2008]

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psychiatric disorders, including antisocial behavior. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2012]

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eacylation of phospholipids as part of the phospholipid remodeling pathway known as the Land cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]

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in the regulation of the biosynthesis of glycoprotein oligosaccharides. Alterations of the oligosaccharides on cell surface glycoproteins cause significant changes in the adhesive or migratory behavior of a cell. Increase in the activity of this enzyme has been correlated with the progression of invasive malignancies. [provided by RefSeq, Oct 2011]

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d as inactive proproteins which are activated when cleaved by extracellular proteinases. The enzyme encoded by this gene degrades type IV and V collagens. Studies in rhesus monkeys suggest that the enzyme is involved in IL-8-induced mobilization of hematopoietic progenitor cells from bone marrow, and murine studies suggest a role in tumor-associated tissue remodeling. [provided by RefSeq, Jul 2008]

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ethylpurine DNA glycosylase). [provided by Alliance of Genome Resources, Jul 2025]

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r environment. The binding of the encoded protein to its ligand, macrophage-stimulating protein, mediates several biological activities including wound healing, tumor immunity, macrophage activation and hematopoiesis as well as cell growth, motility, survival and adhesion. The protein encoded by this gene also functions in early development and the macrophage-mediated inflammatory response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

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ucus and cervical mucus. This gene has been found to be up-regulated in some human diseases, including sinus mucosa of chronic rhinosinusitis (CRS), CRS with nasal polyposis, chronic obstructive pulmonary disease (COPD) and H. pylori-associated gastric disease, and it may be involved in the pathogenesis of these diseases. [provided by RefSeq, Jul 2010]

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tions in this gene are a frequent cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, May 2022]

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istone deacetylases to modify chromatin structure that prevents basal transcriptional activity of target genes. Aberrant expression of this gene is associated with certain cancers. Alternate splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Apr 2011]

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radiation. Pseudogenes of this gene are located on the long arms of chromosomes 1, 7 and 18. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]

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regulation of gene expression. Acts upstream of or within several processes, including cellular response to tumor necrosis factor; regulation of gene expression; and response to muscle stretch. Located in cytosol. Part of NF-kappaB p50/p65 complex and transcription regulator complex. Is active in nucleus. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system; and integumental system. Human ortholog(s) of this gene implicated in several diseases, including HTLV-1-associated myelopathy/tropical spastic paraparesis; carcinoma (multiple); common variable immunodeficiency 12; melanoma; and prostate cancer. Orthologous to human NFKB1 (nuclear factor kappa B subunit 1). [provided by Alliance of Genome Resources, Jul 2025]

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several processes, including peptidyl-cysteine S-nitrosylation; positive regulation of transcription by RNA polymerase II; and regulation of metal ion transport. Located in several cellular components, including T-tubule; Z disc; and sarcoplasmic reticulum membrane. Is active in calyx of Held. Colocalizes with caveola. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Used to study achalasia and hypertrophic pyloric stenosis. Human ortholog(s) of this gene implicated in Alzheimer's disease; Parkinson's disease; asthma; and cystic fibrosis. Orthologous to human NOS1 (nitric oxide synthase 1). [provided by Alliance of Genome Resources, Jul 2025]

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eus to the cytoplasm. This protein is also known to sequester the tumor suppressor ARF in the nucleolus, protecting it from degradation until it is needed. Mutations in this gene are associated with acute myeloid leukemia. Dozens of pseudogenes of this gene have been identified. [provided by RefSeq, Aug 2017]

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sult of reciprocal translocations between this gene and other genes. The translocation breakpoints are associated with Nuclear Receptor Subfamily 4, Group A, Member 3 (on chromosome 9) and either Ewing Sarcome Breakpoint Region 1 (on chromosome 22), RNA Polymerase II, TATA Box-Binding Protein-Associated Factor, 68-KD (on chromosome 17), or Transcription factor 12 (on chromosome 15). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

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ral structures, including brain; early conceptus; genitourinary system; gut; and neural retina. Human ortholog(s) of this gene implicated in alcohol dependence; alcohol use disorder; drug dependence (multiple); opioid abuse; and withdrawal disorder. Orthologous to human OPRD1 (opioid receptor delta 1). [provided by Alliance of Genome Resources, Jul 2025]

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orphin inhibits the enkephalin-inactivating peptidases neprilysin and aminopeptidase N, and this activity is thought to reduce sensitivity to painful stimuli by effecting enkephalin-related activation of opioid-dependent pathways. Opiorphin may also act as an anti-depressant. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

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P and ADP. In platelets binding to ADP leads to mobilization of intracellular calcium ions via activation of phospholipase C, a change in platelet shape, and probably to platelet aggregation. [provided by RefSeq, Jul 2008]

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me that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq, Apr 2009]

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omal recessive disorder phenylketonuria. [provided by RefSeq, Aug 2017]

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ome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. [provided by RefSeq, Jul 2008]

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unctioning to reduce disulfide bonds in the serine protease, plasmin, which consequently leads to the release of the tumor blood vessel inhibitor angiostatin. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Deficiency of the enzyme is associated with a wide range of clinical phenotypes hemolytic anemia and neurological impairment. Pseudogenes of this gene have been defined on chromosomes 19, 21 and the X chromosome. [provided by RefSeq, Jan 2014]

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ifferentiation; nervous system development; and positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2025]

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. It has been shown to inhibit the activation of p38 and JNK kinase cascades induced by environmental stresses. This phosphatase can also dephosphorylate cyclin-dependent kinases, and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to activate the expression of the tumor suppressor gene TP53/p53, which leads to G2/M cell cycle arrest and apoptosis. Three alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

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s in the length of the tandem repeats, polymorphic cleavage sites and polymorphic stop codons have been identified. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. [provided by RefSeq, May 2023]

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ream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. An overlapping open reading frame has been found for this gene that encodes a smaller, structurally unrelated protein, AltPrp. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

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ery morphogenesis (ortholog); cartilage development (ortholog); ASSOCIATED WITH agnathia-otocephaly complex (ortholog); atrial fibrillation (ortholog); Craniosynostosis Syndrome, Autosomal Recessive (ortholog); FOUND IN nucleoplasm (ortholog); nucleus (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 6-propyl-2-thiouracil; acrylamide

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mone signaling pathway; ASSOCIATED WITH autosomal dominant hypocalcemia; Calcification of Aortic Valve; chronic kidney disease; FOUND IN extracellular space; INTERACTS WITH 1,25-Dihydroxy-16-ene-vitamin D3; 24,25-Dihydroxyvitamin D; 3',5'-cyclic AMP

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sed in central nervous system; dorsal root ganglion; genitourinary system; retina; and submandibular gland. Orthologous to human PTPN5 (protein tyrosine phosphatase non-receptor type 5). [provided by Alliance of Genome Resources, Jul 2025]

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and protein-containing complex localization. Located in cytoplasm and nuclear envelope. Is expressed in several structures, including branchial arch; central nervous system; extraembryonic component; hemolymphoid system gland; and sensory organ. Human ortholog(s) of this gene implicated in type 1 diabetes mellitus. Orthologous to human RAN (RAN, member RAS oncogene family). [provided by Alliance of Genome Resources, Jul 2025]

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synthetase belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Jul 2008]

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aling pathways that play a role in cell differentiation, growth, migration and survival. The encoded receptor is important in development of the nervous system, and the development of organs and tissues derived from the neural crest. This proto-oncogene can undergo oncogenic activation through both cytogenetic rearrangement and activating point mutations. Mutations in this gene are associated with Hirschsprung disease and central hypoventilation syndrome and have been identified in patients with renal agenesis. [provided by RefSeq, Sep 2017]

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rotein, and a second gene that encodes both the RhC and RhE antigens on a single polypeptide. The two genes, and a third unrelated gene, are found in a cluster on chromosome 1. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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NTERACTS WITH 1,2-dimethylhydrazine; 17beta-estradiol; 17beta-estradiol 3-benzoate

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that are linked by disulfide bonds to form the mature peptide hormone. This hormone plays a role in the male and female reproductive systems and was initially noted for its role in pregnancy. This protein also plays broader roles in the cardiovascular system, including in the regulation of blood pressure and control of heart rate, and data from animal models shows that this protein may have anti-fibrotic and cardioprotective effects. [provided by RefSeq, Jul 2016]

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cleoside diphosphate kinase involved in organogenesis and differentiation, as well as with NM23-1, the product of a tumor metastasis suppressor candidate gene. Also, it has been shown to aid in the transcriptional regulation of some genes involved in circadian rhythm. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]

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on and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein differs from the other S100 proteins of known structure in its lack of calcium binding ability in one EF-hand at the N-terminus. The protein is overexpressed in hyperproliferative skin diseases, exhibits antimicrobial activities against bacteria and induces immunomodulatory activities. [provided by RefSeq, Nov 2014]

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ember of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]

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ties, and ionic requirements. [provided by RefSeq, Jul 2008]

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brane and is involved in apical absorption of sodium. [provided by RefSeq, Jun 2016]

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n protein interacts with the C-terminus of the pore-forming alpha subunit (SCN5A) of the cardiac sodium channel Nav1.5. This protein also associates cardiac sodium channels with the nitric oxide synthase-PMCA4b (plasma membrane Ca-ATPase subtype 4b) complex in cardiomyocytes. This gene is a susceptibility locus for Long-QT syndrome (LQT) - an inherited disorder associated with sudden cardiac death from arrhythmia - and sudden infant death syndrome (SIDS). This protein also associates with dystrophin and dystrophin-related proteins at the neuromuscular junction and alters intracellular calcium ion levels in muscle tissue. [provided by RefSeq, Jan 2013]

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he encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

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SOCIATED WITH hyperprolactinemia; hypothyroidism; obesity; FOUND IN cell body fiber; neuronal cell body; perinuclear region of cytoplasm; INTERACTS WITH (+)-schisandrin B; (R)-lipoic acid; 1-naphthyl isothiocyanate

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eful targets in cancer vaccine-based immunotherapy. While some of the related SSX genes are involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas, this gene does not appear to be involved in such translocations. [provided by RefSeq, Jul 2013]

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type I interferon-mediated signaling pathway. Located in cytoplasm and nucleus. Is expressed in several structures, including central nervous system; early conceptus; and genitourinary system. Used to study Zika fever. Human ortholog(s) of this gene implicated in Zika fever; immunodeficiency 44; and neutropenia. Orthologous to human STAT2 (signal transducer and activator of transcription 2). [provided by Alliance of Genome Resources, Jul 2025]

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ed with X-linked ichthyosis (XLI). Alternatively spliced transcript variants resulting from the use of different promoters have been described for this gene (PMID:17601726). [provided by RefSeq, Mar 2016]

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milarity with Drosophila omb protein. Expression studies indicate that this gene may have a potential role in tumorigenesis as an immortalizing agent. Transcript heterogeneity due to alternative polyadenylation has been noted for this gene. [provided by RefSeq, Jul 2008]

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protein encoded by this gene acts as a monomer, is induced by retinoic acid, and appears to be involved in apoptosis. Finally, the encoded protein is the autoantigen implicated in celiac disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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Injury; Brain Injuries; cardiomyopathy; FOUND IN cell surface; extracellular space; growth cone; INTERACTS WITH (+)-pilocarpine; (R)-noradrenaline; (S)-nicotine

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anges in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]

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cleavage furrow (ortholog); cortical cytoskeleton (ortholog); INTERACTS WITH 1-naphthyl isothiocyanate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine

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ling which is a major regulator of anabolic cell growth. Mutations in this gene have been associated with tuberous sclerosis and lymphangioleiomyomatosis. [provided by RefSeq, May 2022]

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retinol (vitamin A) in the plasma by associating with retinol-binding protein. The protein may also be involved in other intracellular processes including proteolysis, nerve regeneration, autophagy and glucose homeostasis. Mutations in this gene are associated with amyloid deposition, predominantly affecting peripheral nerves or the heart, while a small percentage of the gene mutations are non-amyloidogenic. The mutations are implicated in the etiology of several diseases, including amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis and carpal tunnel syndrome. [provided by RefSeq, Aug 2017]

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ses (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is demonstrated to participate in the ubiquitination of p53, c-Fos, and the NF-kB precursor p105 in vitro. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]

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,4-catechol estrogens and estriol, suggesting that it may play an important role in regulating the level and activity of these potent estrogen metabolites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017]

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. Disruption of this gene in mice resulted in abnormal embryonic blood vessel formation. This gene is upregulated in many known tumors and its expression is correlated with tumor stage and progression. Elevated levels of this protein are found in patients with POEMS syndrome, also known as Crow-Fukase syndrome. Allelic variants of this gene have been associated with microvascular complications of diabetes 1 (MVCD1) and atherosclerosis. Alternatively spliced transcript variants encoding different isoforms have been described. There is also evidence for alternative translation initiation from upstream non-AUG (CUG) codons resulting in additional isoforms. A recent study showed that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is antiangiogenic. Expression of some isoforms derived from the AUG start codon is regulated by a small upstream open reading frame, which is located within an internal ribosome entry site. The levels of VEGF are increased during infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), thus promoting inflammation by facilitating recruitment of inflammatory cells, and by increasing the level of angiopoietin II (Ang II), one of two products of the SARS-CoV-2 binding target, angiotensin-converting enzyme 2 (ACE2). In turn, Ang II facilitates the elevation of VEGF, thus forming a vicious cycle in the release of inflammatory cytokines. [provided by RefSeq, Jun 2020]

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Predicted to be active in plasma membrane. Is expressed in brain and cerebral cortex. Human ortholog(s) of this gene implicated in achalasia. Orthologous to human VIPR1 (vasoactive intestinal peptide receptor 1). [provided by Alliance of Genome Resources, Apr 2025]

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tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. Tryptophanyl-tRNA synthetase (WARS) catalyzes the aminoacylation of tRNA(trp) with tryptophan and is induced by interferon. Tryptophanyl-tRNA synthetase belongs to the class I tRNA synthetase family. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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th factor beta stimulus (ortholog); PARTICIPATES IN eicosanoid signaling pathway; ephrin - ephrin receptor bidirectional signaling axis; glypican signaling pathway; ASSOCIATED WITH COVID-19 (ortholog); double outlet right ventricle (ortholog); Myocardial Reperfusion Injury (ortholog); FOUND IN cell junction; cytoplasm; actin filament (ortholog)

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f protein import into nucleus (ortholog); PARTICIPATES IN insulin responsive facilitative sugar transporter mediated glucose transport pathway; mTOR signaling pathway; phosphatidylinositol 3-kinase-Akt signaling pathway; ASSOCIATED WITH brain ischemia; Experimental Seizures; systemic lupus erythematosus (ortholog); FOUND IN protein-containing complex; transcription repressor complex; cytoplasm (ortholog); INTERACTS WITH 17alpha-ethynylestradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2,4-dibromophenyl 2,4,5-tribromophenyl ether

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of sperm to zona pellucida (ortholog); PARTICIPATES IN galactose metabolic pathway; galactosemia pathway; Glut1 deficiency syndrome pathway; ASSOCIATED WITH congenital disorder of glycosylation (ortholog); congenital disorder of glycosylation type IId (ortholog); endocrine system disease (ortholog); FOUND IN basolateral plasma membrane (ortholog); brush border membrane (ortholog); cell surface (ortholog); INTERACTS WITH 1-benzylpiperazine; 2-methoxyethanol; 6-propyl-2-thiouracil

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ntipyrine drug pathway; arachidonic acid metabolic pathway; ASSOCIATED WITH adenocarcinoma; asthma; squamous cell carcinoma; FOUND IN cytosol (ortholog); INTERACTS WITH 1-naphthyl isothiocyanate; 2,3,7,8-tetrachlorodibenzodioxine; 2,6-dinitrotoluene

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ukin-12 signaling pathway; interleukin-23 signaling pathway; interleukin-27 signaling pathway; ASSOCIATED WITH Experimental Autoimmune Encephalomyelitis; Sepsis; ankylosing spondylitis (ortholog); FOUND IN extracellular space; interleukin-12 complex; cell surface (ortholog); INTERACTS WITH 1-chloro-2,4-dinitrobenzene; 1-naphthyl isothiocyanate; 2,3,7,8-tetrachlorodibenzodioxine

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CIATED WITH increased systemic arterial blood pressure; increased systemic arterial diastolic blood pressure; ASSOCIATED WITH hypertension; Left Ventricular Hypertrophy; Aortic Rupture (ortholog); FOUND IN endoplasmic reticulum membrane; nuclear membrane; receptor complex (ortholog); INTERACTS WITH 17beta-estradiol; 17beta-estradiol 3-benzoate; 2,3,7,8-tetrachlorodibenzodioxine

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lial growth factor signaling pathway; ASSOCIATED WITH Experimental Liver Cirrhosis; Experimental Mammary Neoplasms; hepatocellular carcinoma; FOUND IN apical plasma membrane; basolateral plasma membrane; focal adhesion; INTERACTS WITH 1-octadec-9-enoylglycero-3-phosphate; 2,3,7,8-tetrachlorodibenzodioxine; 2,4-dinitrotoluene

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eful targets in cancer vaccine-based immunotherapy. This gene, and also the SSX1 and SSX4 family members, have been involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. The encoded hybrid proteins are likely responsible for transforming activity. Alternative splicing of this gene results in multiple transcript variants. This gene also has an identical duplicate, GeneID: 727837, located about 45 kb downstream in the opposite orientation on chromosome X. [provided by RefSeq, Jul 2013]

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eful targets in cancer vaccine-based immunotherapy. While some of the related SSX genes are involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas, this gene does not appear to be involved in such translocations. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2013]

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thway; ASSOCIATED WITH myocardial infarction; Breast Neoplasms (ortholog); Colonic Neoplasms (ortholog); FOUND IN dendrite; neuronal cell body; perinuclear region of cytoplasm; INTERACTS WITH 17alpha-ethynylestradiol; 2,3,7,8-tetrachlorodibenzodioxine; 3-chloropropane-1,2-diol

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re a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]