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ngiogenesis, and antimicrobial activity. The antimicrobial activity is antibacterial, as the peptide has been shown to kill E. coli and S. aureus at low concentration. [provided by RefSeq, Aug 2014]

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en metabolic process (ortholog); PARTICIPATES IN hypoxia inducible factor pathway; p38 MAPK signaling pathway; ASSOCIATED WITH abdominal aortic aneurysm (ortholog); Acidoses (ortholog); Albuminuria (ortholog); FOUND IN cytoplasm (ortholog); extracellular space (ortholog)

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N hypoxia inducible factor pathway; p38 MAPK signaling pathway; ASSOCIATED WITH abdominal aortic aneurysm (ortholog); Acidoses (ortholog); Albuminuria (ortholog); FOUND IN cytoplasm (ortholog); extracellular space (ortholog)

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pathway; p38 MAPK signaling pathway; ASSOCIATED WITH abdominal aortic aneurysm (ortholog); Acidoses (ortholog); Albuminuria (ortholog); FOUND IN extracellular space (ortholog); INTERACTS WITH bis(2-chloroethyl) sulfide

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N hypoxia inducible factor pathway; p38 MAPK signaling pathway; ASSOCIATED WITH abdominal aortic aneurysm (ortholog); Acidoses (ortholog); Albuminuria (ortholog); FOUND IN extracellular space (ortholog)

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en metabolic process (ortholog); PARTICIPATES IN hypoxia inducible factor pathway; p38 MAPK signaling pathway; ASSOCIATED WITH abdominal aortic aneurysm (ortholog); Acidoses (ortholog); Albuminuria (ortholog); FOUND IN cytoplasm (ortholog); extracellular space (ortholog)

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processed to generate one or more biologically active peptides. [provided by RefSeq, Jul 2015]

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Myocardial Ischemia (ortholog); phlebitis (ortholog); vascular disease (ortholog); FOUND IN extracellular space (ortholog)

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Myocardial Ischemia (ortholog); phlebitis (ortholog); vascular disease (ortholog); FOUND IN extracellular region (inferred); extracellular space (inferred)

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Myocardial Ischemia (ortholog); phlebitis (ortholog); vascular disease (ortholog); FOUND IN extracellular region (inferred); extracellular space (inferred); INTERACTS WITH graphene oxide

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Myocardial Ischemia (ortholog); phlebitis (ortholog); vascular disease (ortholog); FOUND IN extracellular region (inferred); extracellular space (inferred)

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Myocardial Ischemia (ortholog); phlebitis (ortholog); vascular disease (ortholog); FOUND IN extracellular space (ortholog)

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for adrenomedullin. [provided by RefSeq, Jul 2008]

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o human GPR182 (G protein-coupled receptor 182). [provided by Alliance of Genome Resources, Jul 2025]

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605713) or SPTLC3 (MIM 611120) (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010]

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008]

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TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene lacks a C-terminal TS motif. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease is responsible for the degradation of aggrecan, a major proteoglycan of cartilage, and brevican, a brain-specific extracellular matrix protein. The expression of this gene is upregulated in arthritic disease and this may contribute to disease progression through the degradation of aggrecan. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]

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S) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs and functions as an aggrecanase that cleaves aggrecan, a major proteoglycan of cartilage, and may mediate cartilage destruction in osteoarthritis. [provided by RefSeq, Feb 2016]

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

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lls. PDCD1 is expressed in many types of tumors including melanomas, and has demonstrated to play a role in anti-tumor immunity. Moreover, this protein has been shown to be involved in safeguarding against autoimmunity, however, it can also contribute to the inhibition of effective anti-tumor and anti-microbial immunity. [provided by RefSeq, Aug 2020]

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gnal transduction in combination with the Src family kinases, Lck and Fyn. This enzyme is also essential for thymocyte development. Mutations in this gene cause selective T-cell defect, a severe combined immunodeficiency disease characterized by a selective absence of CD8-positive T-cells. Two transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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rotein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations in the ABCC8 gene and deficiencies in the encoded protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2020]

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ted by integrin (ortholog); PARTICIPATES IN epidermal growth factor/neuregulin signaling pathway; ASSOCIATED WITH cone-rod dystrophy 3; Alzheimer's disease (ortholog); cervix uteri carcinoma in situ (ortholog); FOUND IN basolateral plasma membrane (ortholog); cell surface (ortholog); cytoplasm (ortholog)

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e hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels. [provided by RefSeq, Dec 2019]

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target genes. Overexpression of this gene has been detected in a number of different cancers. There is a pseudogene for this gene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

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ded proteins also lack a C-terminus RING finger domain. Gene expression is high during fetal development and in most tumors, yet low in adult tissues. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2011]

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naling pathway; mitogen activated protein kinase signaling pathway; ASSOCIATED WITH Experimental Autoimmune Encephalomyelitis; Hyperalgesia; brain edema (ortholog); FOUND IN axon terminus; dendritic shaft; glutamatergic synapse; INTERACTS WITH 1,2-dimethylhydrazine; 4,4'-sulfonyldiphenol; 6-propyl-2-thiouracil

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atory Syndrome; Abdominal Obesity (ortholog); FOUND IN cell surface; INTERACTS WITH cadmium atom; Estradiol 17beta-cyclopentylpropionate

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acular degeneration 14 (ortholog); anterior uveitis (ortholog); FOUND IN cytoplasmic side of Golgi membrane (ortholog); extracellular space (ortholog); symbiont cell surface (ortholog); INTERACTS WITH bis(2-chloroethyl) sulfide; deoxynivalenol; graphene oxide

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ed in several structures, including head mesenchyme; incisor; limb; sensory organ; and skeleton. Used to study retinitis pigmentosa. Human ortholog(s) of this gene implicated in retinitis pigmentosa and retinitis pigmentosa 45. Orthologous to human CNGB1 (cyclic nucleotide gated channel subunit beta 1). [provided by Alliance of Genome Resources, Apr 2025]

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IPATES IN electron transport chain pathway; Fanconi syndrome pathway; fructose-1,6-bisphosphatase deficiency pathway; ASSOCIATED WITH Acute Coronary Syndrome (ortholog); Alzheimer's disease (ortholog); Animal Disease Models (ortholog); FOUND IN cytoplasm (ortholog); cytosol (ortholog); GAIT complex (ortholog); INTERACTS WITH bis(2-chloroethyl) sulfide; calcium dichloride; deoxynivalenol

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pathway; insulin responsive facilitative sugar transporter mediated glucose transport pathway; ASSOCIATED WITH cardiovascular system disease (ortholog); genetic disease (ortholog); Glycogen Storage Disease 0, Muscle (ortholog); FOUND IN cytoplasm (inferred); cytosol (inferred); inclusion body (inferred); INTERACTS WITH bisphenol A; choline; deoxynivalenol

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ted regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008]

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

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

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3 (MODY3) and also can result in the appearance of hepatic adenomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]

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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. This gene is one of the "framework" loci that is present on all haplotypes. Alternate alleles of this gene are represented on multiple alternate reference loci (ALT_REF_LOCs). Alternative splicing results in multiple transcript variants, some of which may not be annotated on the primary reference assembly. [provided by RefSeq, Jul 2016]

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bolic pathway; ASSOCIATED WITH Acute Experimental Pancreatitis (ortholog); allergic contact dermatitis (ortholog); depressive disorder (ortholog); FOUND IN extracellular space (ortholog); mitochondrial outer membrane (ortholog); mitochondrion (ortholog)

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ult lifespan; regulation of protein localization; and steroid metabolic process. Located in cytoplasm and extracellular space. Is expressed in several structures, including adipose tissue; alimentary system; central nervous system; early conceptus; and reproductive system. Used to study abdominal obesity-metabolic syndrome (multiple); obesity; steatotic liver disease (multiple); and type 2 diabetes mellitus. Human ortholog(s) of this gene implicated in several diseases, including alcohol dependence; congenital leptin deficiency; liver disease (multiple); lung disease (multiple); and type 2 diabetes mellitus. Orthologous to human LEP (leptin). [provided by Alliance of Genome Resources, Jul 2025]

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tholog); Developmental Disease (ortholog); disorder of sexual development (ortholog); FOUND IN cytoplasm (ortholog); endosome (ortholog); nucleus (ortholog)

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nd mutations in this gene result in type II diabetes mellitus. [provided by RefSeq, Jul 2008]

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tion pathway; ASSOCIATED WITH autosomal recessive dyskeratosis congenita 6 (ortholog); dyskeratosis congenita (ortholog); genetic disease (ortholog); FOUND IN glutamatergic synapse; postsynapse; nuclear speck (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 3-chloropropane-1,2-diol; bisphenol A

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utosomal dominant polycystic kidney disease (ortholog); autosomal recessive polycystic kidney disease (ortholog); FOUND IN microtubule cytoskeleton; mitotic spindle; non-motile cilium; INTERACTS WITH deoxynivalenol

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tholog); ASSOCIATED WITH acute kidney failure (ortholog); asthma (ortholog); atopic dermatitis (ortholog); FOUND IN endosome membrane (inferred); late endosome (inferred); late endosome membrane (inferred); INTERACTS WITH cadmium atom

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or-beta Smad dependent signaling pathway; Bone morphogenetic proteins signaling pathway; colorectal cancer pathway; ASSOCIATED WITH atrial fibrillation (ortholog); colorectal cancer (ortholog); Colorectal Neoplasms (ortholog); FOUND IN adherens junction (inferred); cytoplasm (inferred); cytosol (inferred); INTERACTS WITH cadmium dichloride; graphene oxide

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and tracheal cilia, reduced clearance of nasal mucus, profound respiratory distress, hydrocephalus, and neonatal lethality within twelve hours of birth due to impaired airway mucociliary clearance. Single-nucleotide polymorphisms in this gene are associated with human height and targeted mutations lead to skeletal malformations affecting the limbs in mice, suggesting a role for this gene in skeletal development. [provided by RefSeq, Feb 2017]

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the developing anterior pituitary gland, coincident with the appearance of thyroid-stimulating hormone, beta (TSHB). Indeed, TEF can bind to, and transactivate the TSHB promoter. It shows homology (in the functional domains) with other members of the PAR-bZIP subfamily of transcription factors, which include albumin D box-binding protein (DBP), human hepatic leukemia factor (HLF) and chicken vitellogenin gene-binding protein (VBP); VBP is considered the chicken homologue of TEF. Different members of the subfamily can readily form heterodimers, and share DNA-binding, and transcriptional regulatory properties. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

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rtholog); ASSOCIATED WITH Arsenic Poisoning (ortholog); skin disease (ortholog); FOUND IN cytoplasm (inferred); INTERACTS WITH (+)-schisandrin B; aconitine; acrylamide

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wth factor signaling pathway; ASSOCIATED WITH Acute Coronary Syndrome (ortholog); autism spectrum disorder (ortholog); cardiomyopathy (ortholog); FOUND IN actin filament (ortholog); intercalated disc (ortholog); membrane raft (ortholog)

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cer (ortholog); FOUND IN CCR4-NOT complex (ortholog); exosome (RNase complex) (ortholog)

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esis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild cognitive disability, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernicke's-like encephalopathy.[provided by RefSeq, Jan 2010]

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ing resulting in multiple transcript variants. [provided by RefSeq, Dec 2014]

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ncluding cocaine, heroin and aspirin. Humans homozygous for certain mutations in this gene exhibit prolonged apnea after administration of the muscle relaxant succinylcholine. [provided by RefSeq, Jul 2016]

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le='font-weight:700;'>administered to manage chemotherapy-induced neutropenia. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2020]

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roitin sulfate moiety. Intravenous administration of the encoded protein improved survival of mice after infection with Escherichia coli. This gene is located adjacent to two other IaI heavy chain genes. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing to generate mature protein. [provided by RefSeq, Oct 2015]

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ce