psui3905/ncbi_genes_summary huggingface dataset:
ACVR1, Official Symbol ACVR1provided by HGNC Official Full Name activin A receptor type 1provided by HGNC Primary source HGNC:HGNC:171 See related Ensembl:ENSG00000115170 MIM:102576; AllianceGenome:HGNC:171 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FOP; ALK2; SKR1; TSRI; ACTRI; ACVR1A; ACVRLK2 Summary Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 15.1), gall bladder (RPKM 9.4) and 23 other tissues See more Orthologs mouse all
ACVR1B, Official Symbol ACVR1Bprovided by HGNC Official Full Name activin A receptor type 1Bprovided by HGNC Primary source HGNC:HGNC:172 See related Ensembl:ENSG00000135503 MIM:601300; AllianceGenome:HGNC:172 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ALK4; SKR2; ACTRIB; ACVRLK4 Summary This gene encodes an activin A type IB receptor. Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I and two type II receptors. This protein is a type I receptor which is essential for signaling. Mutations in this gene are associated with pituitary tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010] Expression Ubiquitous expression in kidney (RPKM 15.7), colon (RPKM 11.9) and 25 other tissues See more Orthologs mouse all
ACVR1C, Official Symbol ACVR1Cprovided by HGNC Official Full Name activin A receptor type 1Cprovided by HGNC Primary source HGNC:HGNC:18123 See related Ensembl:ENSG00000123612 MIM:608981; AllianceGenome:HGNC:18123 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ALK7; ACVRLK7 Summary ACVR1C is a type I receptor for the TGFB (see MIM 190180) family of signaling molecules. Upon ligand binding, type I receptors phosphorylate cytoplasmic SMAD transcription factors, which then translocate to the nucleus and interact directly with DNA or in complex with other transcription factors (Bondestam et al., 2001 [PubMed 12063393]).[supplied by OMIM, Mar 2008] Expression Biased expression in fat (RPKM 19.0), colon (RPKM 1.8) and 6 other tissues See more Orthologs mouse all
ACVR2A, Official Symbol ACVR2Aprovided by HGNC Official Full Name activin A receptor type 2Aprovided by HGNC Primary source HGNC:HGNC:173 See related Ensembl:ENSG00000121989 MIM:102581; AllianceGenome:HGNC:173 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ACVR2; ACTRII Summary This gene encodes a receptor that mediates the functions of activins, which are members of the transforming growth factor-beta (TGF-beta) superfamily involved in diverse biological processes. The encoded protein is a transmembrane serine-threonine kinase receptor which mediates signaling by forming heterodimeric complexes with various combinations of type I and type II receptors and ligands in a cell-specific manner. The encoded type II receptor is primarily involved in ligand-binding and includes an extracellular ligand-binding domain, a transmembrane domain and a cytoplasmic serine-threonine kinase domain. This gene may be associated with susceptibility to preeclampsia, a pregnancy-related disease which can result in maternal and fetal morbidity and mortality. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jun 2013] Expression Ubiquitous expression in skin (RPKM 13.5), gall bladder (RPKM 6.4) and 25 other tissues See more Orthologs mouse all
ACVR2B, Official Symbol ACVR2Bprovided by HGNC Official Full Name activin A receptor type 2Bprovided by HGNC Primary source HGNC:HGNC:174 See related Ensembl:ENSG00000114739 MIM:602730; AllianceGenome:HGNC:174 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HTX4; ACTRIIB; ActR-IIB Summary Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 1.5), brain (RPKM 1.3) and 25 other tissues See more Orthologs mouse all
ACVR2B-AS1, Official Symbol ACVR2B-AS1provided by HGNC Official Full Name ACVR2B antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44161 See related Ensembl:ENSG00000229589 AllianceGenome:HGNC:44161 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Ubiquitous expression in ovary (RPKM 1.4), adrenal (RPKM 1.0) and 23 other tissues See more
ACVRL1, Official Symbol ACVRL1provided by HGNC Official Full Name activin A receptor like type 1provided by HGNC Primary source HGNC:HGNC:175 See related Ensembl:ENSG00000139567 MIM:601284; AllianceGenome:HGNC:175 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HHT; ALK1; HHT2; ORW2; SKR3; ALK-1; TSR-I; ACVRLK1 Summary This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008] Expression Broad expression in placenta (RPKM 37.6), lung (RPKM 28.7) and 18 other tissues See more Orthologs mouse all
ACY1, Official Symbol ACY1provided by HGNC Official Full Name aminoacylase 1provided by HGNC Primary source HGNC:HGNC:177 See related Ensembl:ENSG00000243989 MIM:104620; AllianceGenome:HGNC:177 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ACY-1; ACY1D; HEL-S-5 Summary This gene encodes a cytosolic, homodimeric, zinc-binding enzyme that catalyzes the hydrolysis of acylated L-amino acids to L-amino acids and an acyl group, and has been postulated to function in the catabolism and salvage of acylated amino acids. This gene is located on chromosome 3p21.1, a region reduced to homozygosity in small-cell lung cancer (SCLC), and its expression has been reported to be reduced or undetectable in SCLC cell lines and tumors. The amino acid sequence of human aminoacylase-1 is highly homologous to the porcine counterpart, and this enzyme is the first member of a new family of zinc-binding enzymes. Mutations in this gene cause aminoacylase-1 deficiency, a metabolic disorder characterized by central nervous system defects and increased urinary excretion of N-acetylated amino acids. Alternative splicing of this gene results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ABHD14A (abhydrolase domain containing 14A) gene, as represented in GeneID:100526760. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Nov 2010] Expression Biased expression in kidney (RPKM 217.1), duodenum (RPKM 77.7) and 7 other tissues See more Orthologs mouse all
ACY3, Official Symbol ACY3provided by HGNC Official Full Name aminoacylase 3provided by HGNC Primary source HGNC:HGNC:24104 See related Ensembl:ENSG00000132744 MIM:614413; AllianceGenome:HGNC:24104 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ACY-3; HCBP1 Summary Predicted to enable aminoacylase activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in kidney (RPKM 28.0), duodenum (RPKM 26.6) and 8 other tissues See more Orthologs mouse all
ACYP1, Official Symbol ACYP1provided by HGNC Official Full Name acylphosphatase 1provided by HGNC Primary source HGNC:HGNC:179 See related Ensembl:ENSG00000119640 MIM:600875; AllianceGenome:HGNC:179 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ACYPE Summary This gene is a member of the acylphosphatase family. The encoded protein is a small cytosolic enzyme that catalyzes the hydrolysis of the carboxyl-phosphate bond of acylphosphates. Two isoenzymes have been isolated and described based on their tissue localization: erythrocyte (common) type acylphosphatase encoded by this gene, and muscle type acylphosphatase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014] Expression Ubiquitous expression in adrenal (RPKM 8.5), testis (RPKM 6.1) and 24 other tissues See more Orthologs mouse all
ACYP2, Official Symbol ACYP2provided by HGNC Official Full Name acylphosphatase 2provided by HGNC Primary source HGNC:HGNC:180 See related Ensembl:ENSG00000170634 MIM:102595; AllianceGenome:HGNC:180 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ACYM; ACYP Summary Acylphosphatase can hydrolyze the phosphoenzyme intermediate of different membrane pumps, particularly the Ca2+/Mg2+-ATPase from sarcoplasmic reticulum of skeletal muscle. Two isoenzymes have been isolated, called muscle acylphosphatase and erythrocyte acylphosphatase on the basis of their tissue localization. This gene encodes the muscle-type isoform (MT). An increase of the MT isoform is associated with muscle differentiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016] Expression Ubiquitous expression in brain (RPKM 3.1), heart (RPKM 2.8) and 25 other tissues See more Orthologs mouse all
ADA, Official Symbol ADAprovided by HGNC Official Full Name adenosine deaminaseprovided by HGNC Primary source HGNC:HGNC:186 See related Ensembl:ENSG00000196839 MIM:608958; AllianceGenome:HGNC:186 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ADA1 Summary This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine in the purine catabolic pathway. Various mutations have been described for this gene and have been linked to human diseases related to impaired immune function such as severe combined immunodeficiency disease (SCID) which is the result of a deficiency in the ADA enzyme. In ADA-deficient individuals there is a marked depletion of T, B, and NK lymphocytes, and consequently, a lack of both humoral and cellular immunity. Conversely, elevated levels of this enzyme are associated with congenital hemolytic anemia. [provided by RefSeq, Sep 2019] Expression Biased expression in duodenum (RPKM 234.2) and lymph node (RPKM 16.6) See more Orthologs mouse all
ADA2, Official Symbol ADA2provided by HGNC Official Full Name adenosine deaminase 2provided by HGNC Primary source HGNC:HGNC:1839 See related Ensembl:ENSG00000093072 MIM:607575; AllianceGenome:HGNC:1839 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PAN; ADGF; CECR1; IDGFL; SNEDS; VAIHS Summary This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein is one of two adenosine deaminases found in humans, which regulate levels of the signaling molecule, adenosine. The encoded protein is secreted from monocytes undergoing differentiation and may regulate cell proliferation and differentiation. This gene may be responsible for some of the phenotypic features associated with cat eye syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Annotation information Note: ADA2 is an official symbol GeneID: 51816 and an alias on GeneID: 6871. GeneID: 6871 is frequently referred to as ADA2 in the literature, and publications belonging to GeneID:51816 are sometimes mis-associated with GeneID: 6871 [06 Jul 2018] Expression Broad expression in spleen (RPKM 38.0), lymph node (RPKM 17.5) and 23 other tissues See more Orthologs all
ADAD1, Official Symbol ADAD1provided by HGNC Official Full Name adenosine deaminase domain containing 1provided by HGNC Primary source HGNC:HGNC:30713 See related Ensembl:ENSG00000164113 MIM:614130; AllianceGenome:HGNC:30713 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Tenr Summary Predicted to enable double-stranded RNA adenosine deaminase activity; double-stranded RNA binding activity; and tRNA-specific adenosine deaminase activity. Predicted to be involved in RNA processing and adenosine to inosine editing. Predicted to act upstream of or within spermatid development. Predicted to be located in nucleus. Predicted to be active in cytoplasm and nucleolus. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 52.2) See more Orthologs mouse all
ADAD1P2, Official Symbol ADAD1P2provided by HGNC Official Full Name adenosine deaminase domain containing 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:44552 See related Ensembl:ENSG00000267511 AllianceGenome:HGNC:44552 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ADAD2, Official Symbol ADAD2provided by HGNC Official Full Name adenosine deaminase domain containing 2provided by HGNC Primary source HGNC:HGNC:30714 See related Ensembl:ENSG00000140955 MIM:619532; AllianceGenome:HGNC:30714 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TENRL Summary Predicted to enable double-stranded RNA adenosine deaminase activity; double-stranded RNA binding activity; and tRNA-specific adenosine deaminase activity. Predicted to be involved in RNA processing and adenosine to inosine editing. Predicted to be active in cytoplasm and nucleolus. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 19.3) See more Orthologs mouse all
ADAL, Official Symbol ADALprovided by HGNC Official Full Name adenosine deaminase likeprovided by HGNC Primary source HGNC:HGNC:31853 See related Ensembl:ENSG00000168803 MIM:619346; AllianceGenome:HGNC:31853 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HsMAPDA Summary Predicted to enable adenosine deaminase activity. Predicted to be involved in adenosine catabolic process and inosine biosynthetic process. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in heart (RPKM 4.3), testis (RPKM 3.5) and 24 other tissues See more Orthologs mouse all
ADAM10, Official Symbol ADAM10provided by HGNC Official Full Name ADAM metallopeptidase domain 10provided by HGNC Primary source HGNC:HGNC:188 See related Ensembl:ENSG00000137845 MIM:602192; AllianceGenome:HGNC:188 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RAK; kuz; AD10; AD18; MADM; CD156c; CDw156; HsT18717 Summary Members of the ADAM family are cell surface proteins with a unique structure possessing both potential adhesion and protease domains. This gene encodes and ADAM family member that cleaves many proteins including TNF-alpha and E-cadherin. Alternate splicing results in multiple transcript variants encoding different proteins that may undergo similar processing. [provided by RefSeq, Feb 2016] Expression Ubiquitous expression in urinary bladder (RPKM 30.9), thyroid (RPKM 26.8) and 25 other tissues See more Orthologs mouse all
ADAM11, Official Symbol ADAM11provided by HGNC Official Full Name ADAM metallopeptidase domain 11provided by HGNC Primary source HGNC:HGNC:189 See related Ensembl:ENSG00000073670 MIM:155120; AllianceGenome:HGNC:189 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MDC Summary This gene encodes a member of the ADAM (a disintegrin and metalloprotease) protein family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature protease. This gene represents a candidate tumor suppressor gene for human breast cancer based on its location within a minimal region of chromosome 17q21 previously defined by tumor deletion mapping. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016] Expression Biased expression in brain (RPKM 9.4), heart (RPKM 3.1) and 5 other tissues See more Orthologs mouse all
ADAM12, Official Symbol ADAM12provided by HGNC Official Full Name ADAM metallopeptidase domain 12provided by HGNC Primary source HGNC:HGNC:190 See related Ensembl:ENSG00000148848 MIM:602714; AllianceGenome:HGNC:190 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MCMP; MLTN; CAR10; MLTNA; MCMPMltna; ADAM12-OT1 Summary This gene encodes a member of a family of proteins that are structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Expression of this gene has been used as a maternal serum marker for pre-natal development. Alternative splicing results in multiple transcript variants encoding different isoforms. Shorter isoforms are secreted, while longer isoforms are membrane-bound form. [provided by RefSeq, Jan 2014] Expression Biased expression in placenta (RPKM 63.0), gall bladder (RPKM 5.5) and 2 other tissues See more Orthologs mouse all
ADAM15, Official Symbol ADAM15provided by HGNC Official Full Name ADAM metallopeptidase domain 15provided by HGNC Primary source HGNC:HGNC:193 See related Ensembl:ENSG00000143537 MIM:605548; AllianceGenome:HGNC:193 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MDC15 Summary The protein encoded by this gene is a member of the ADAM (a disintegrin and metalloproteinase) protein family. ADAM family members are type I transmembrane glycoproteins known to be involved in cell adhesion and proteolytic ectodomain processing of cytokines and adhesion molecules. This protein contains multiple functional domains including a zinc-binding metalloprotease domain, a disintegrin-like domain, as well as a EGF-like domain. Through its disintegrin-like domain, this protein specifically interacts with the integrin beta chain, beta 3. It also interacts with Src family protein-tyrosine kinases in a phosphorylation-dependent manner, suggesting that this protein may function in cell-cell adhesion as well as in cellular signaling. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in skin (RPKM 41.3), esophagus (RPKM 32.4) and 25 other tissues See more Orthologs mouse all
ADAM17, Official Symbol ADAM17provided by HGNC Official Full Name ADAM metallopeptidase domain 17provided by HGNC Primary source HGNC:HGNC:195 See related Ensembl:ENSG00000151694 MIM:603639; AllianceGenome:HGNC:195 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CSVP; TACE; NISBD; ADAM18; CD156B; NISBD1 Summary This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature protease. The encoded protease functions in the ectodomain shedding of tumor necrosis factor-alpha, in which soluble tumor necrosis factor-alpha is released from the membrane-bound precursor. This protease also functions in the processing of numerous other substrates, including cell adhesion proteins, cytokine and growth factor receptors and epidermal growth factor (EGF) receptor ligands, and plays a prominent role in the activation of the Notch signaling pathway. Elevated expression of this gene has been observed in specific cell types derived from psoriasis, rheumatoid arthritis, multiple sclerosis and Crohn's disease patients, suggesting that the encoded protein may play a role in autoimmune disease. Additionally, this protease may play a role in viral infection through its cleavage of ACE2, the cellular receptor for SARS-CoV and SARS-CoV-2. [provided by RefSeq, Aug 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for COVID-19 treatment. Expression Ubiquitous expression in testis (RPKM 11.1), placenta (RPKM 10.9) and 25 other tissues See more Orthologs mouse all
ADAM18, Official Symbol ADAM18provided by HGNC Official Full Name ADAM metallopeptidase domain 18provided by HGNC Primary source HGNC:HGNC:196 See related Ensembl:ENSG00000168619 MIM:619495; AllianceGenome:HGNC:196 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ADAM27; tMDCIII Summary This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature sperm surface protein. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016] Expression Restricted expression toward testis (RPKM 6.7) See more Orthologs mouse all
ADAM19, Official Symbol ADAM19provided by HGNC Official Full Name ADAM metallopeptidase domain 19provided by HGNC Primary source HGNC:HGNC:197 See related Ensembl:ENSG00000135074 MIM:603640; AllianceGenome:HGNC:197 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MLTNB; FKSG34; MADDAM Summary This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This member is a type I transmembrane protein and serves as a marker for dendritic cell differentiation. It has been demonstrated to be an active metalloproteinase, which may be involved in normal physiological processes such as cell migration, cell adhesion, cell-cell and cell-matrix interactions, and signal transduction. It is proposed to play a role in pathological processes, such as cancer, inflammatory diseases, renal diseases, and Alzheimer's disease. [provided by RefSeq, May 2013] Expression Broad expression in lymph node (RPKM 12.3), appendix (RPKM 11.1) and 18 other tissues See more Orthologs mouse all
ADAM1B, Official Symbol ADAM1Bprovided by HGNC Official Full Name ADAM metallopeptidase domain 1B (pseudogene)provided by HGNC Primary source HGNC:HGNC:44366 See related Ensembl:ENSG00000226469 AllianceGenome:HGNC:44366 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ADAM2, Official Symbol ADAM2provided by HGNC Official Full Name ADAM metallopeptidase domain 2provided by HGNC Primary source HGNC:HGNC:198 See related Ensembl:ENSG00000104755 MIM:601533; AllianceGenome:HGNC:198 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CT15; FTNB; PH30; CRYN1; CRYN2; PH-30b; PH30-beta Summary This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded protein is a subunit of an integral sperm membrane glycoprotein called fertilin, which plays an important role in sperm-egg interactions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013] Expression Restricted expression toward testis (RPKM 28.4) See more Orthologs mouse all
ADAM20, Official Symbol ADAM20provided by HGNC Official Full Name ADAM metallopeptidase domain 20provided by HGNC Primary source HGNC:HGNC:199 See related Ensembl:ENSG00000134007 MIM:603712; AllianceGenome:HGNC:199 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The expression of this gene is testis-specific. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs all
ADAM20P3, Official Symbol ADAM20P3provided by HGNC Official Full Name ADAM metallopeptidase domain 20 pseudogene 3provided by HGNC Primary source HGNC:HGNC:43902 See related Ensembl:ENSG00000249162 AllianceGenome:HGNC:43902 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ADAM21, Official Symbol ADAM21provided by HGNC Official Full Name ADAM metallopeptidase domain 21provided by HGNC Primary source HGNC:HGNC:200 See related Ensembl:ENSG00000139985 MIM:603713; AllianceGenome:HGNC:200 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ADAM31; ADAM 21 Summary This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The expression of this gene expression is testis-specific. [provided by RefSeq, May 2011] Expression Biased expression in testis (RPKM 6.0) and brain (RPKM 0.2) See more Orthologs all
ADAM21P1, Official Symbol ADAM21P1provided by HGNC Official Full Name ADAM metallopeptidase domain 21 pseudogene 1provided by HGNC Primary source HGNC:HGNC:19822 See related Ensembl:ENSG00000235812 AllianceGenome:HGNC:19822 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ADAM21P
ADAM22, Official Symbol ADAM22provided by HGNC Official Full Name ADAM metallopeptidase domain 22provided by HGNC Primary source HGNC:HGNC:201 See related Ensembl:ENSG00000008277 MIM:603709; AllianceGenome:HGNC:201 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MDC2; DEE61; EIEE61; ADAM 22 Summary This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Unlike other members of the ADAM protein family, the protein encoded by this gene lacks metalloprotease activity since it has no zinc-binding motif. This gene is highly expressed in the brain and may function as an integrin ligand in the brain. In mice, it has been shown to be essential for correct myelination in the peripheral nervous system. Alternative splicing results in several transcript variants.[provided by RefSeq, Dec 2010] Expression Biased expression in brain (RPKM 9.0), adrenal (RPKM 2.5) and 10 other tissues See more Orthologs mouse all
ADAM23, Official Symbol ADAM23provided by HGNC Official Full Name ADAM metallopeptidase domain 23provided by HGNC Primary source HGNC:HGNC:202 See related Ensembl:ENSG00000114948 MIM:603710; AllianceGenome:HGNC:202 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MDC3; MDC-3 Summary This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. It is reported that inactivation of this gene is associated with tumorigenesis in human cancers. [provided by RefSeq, May 2013] Expression Biased expression in brain (RPKM 14.8), heart (RPKM 6.7) and 6 other tissues See more Orthologs mouse all
ADAM24P, Official Symbol ADAM24Pprovided by HGNC Official Full Name ADAM metallopeptidase domain 24, pseudogeneprovided by HGNC Primary source HGNC:HGNC:203 See related Ensembl:ENSG00000214607 AllianceGenome:HGNC:203 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ADAM24
ADAM28, Official Symbol ADAM28provided by HGNC Official Full Name ADAM metallopeptidase domain 28provided by HGNC Primary source HGNC:HGNC:206 See related Ensembl:ENSG00000042980 MIM:606188; AllianceGenome:HGNC:206 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MDCL; MDC-L; eMDCII; ADAM 28; eMDC II Summary This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene is a lymphocyte-expressed ADAM protein. This gene is present in a gene cluster with other members of the ADAM family on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015] Expression Biased expression in stomach (RPKM 21.4), gall bladder (RPKM 11.1) and 12 other tissues See more Orthologs mouse all
ADAM29, Official Symbol ADAM29provided by HGNC Official Full Name ADAM metallopeptidase domain 29provided by HGNC Primary source HGNC:HGNC:207 See related Ensembl:ENSG00000168594 MIM:604778; AllianceGenome:HGNC:207 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CT73; svph1 Summary This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene is highly expressed in testis and may be involved in human spermatogenesis. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Jul 2008] Expression Restricted expression toward testis (RPKM 20.8) See more Orthologs mouse all
ADAM30, Official Symbol ADAM30provided by HGNC Official Full Name ADAM metallopeptidase domain 30provided by HGNC Primary source HGNC:HGNC:208 See related Ensembl:ENSG00000134249 MIM:604779; AllianceGenome:HGNC:208 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as svph4 Summary This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This gene is testis-specific and contains a polymorphic region, resulting in isoforms with varying numbers of C-terminal repeats. [provided by RefSeq, Jul 2008] Orthologs mouse all
ADAM32, Official Symbol ADAM32provided by HGNC Official Full Name ADAM metallopeptidase domain 32provided by HGNC Primary source HGNC:HGNC:15479 See related Ensembl:ENSG00000197140 MIM:618602; AllianceGenome:HGNC:15479 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a member of the disintegrin family of membrane-anchored proteins that play a role in diverse biological processes such as brain development, fertilization, tumor development and inflammation. This gene is predominantly expressed in the testis. The encoded protein undergoes proteolytic processing to generate a mature polypeptide comprised of an metalloprotease, disintegrin and epidermal growth factor-like domains. This gene is located in a cluster of other disintegrin and metallopeptidase family genes on chromosome 8. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015] Expression Restricted expression toward testis (RPKM 20.2) See more Orthologs all
ADAM33, Official Symbol ADAM33provided by HGNC Official Full Name ADAM metallopeptidase domain 33provided by HGNC Primary source HGNC:HGNC:15478 See related Ensembl:ENSG00000149451 MIM:607114; AllianceGenome:HGNC:15478 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C20orf153; DJ964F7.1 Summary This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This protein is a type I transmembrane protein implicated in asthma and bronchial hyperresponsiveness. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013] Expression Broad expression in endometrium (RPKM 33.9), gall bladder (RPKM 16.7) and 17 other tissues See more Orthologs mouse all
ADAM3A, Official Symbol ADAM3Aprovided by HGNC Official Full Name ADAM metallopeptidase domain 3A (pseudogene)provided by HGNC Primary source HGNC:HGNC:209 See related Ensembl:ENSG00000197475 AllianceGenome:HGNC:209 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ADAM3; CYRN1; tMDCI Summary Predicted to be involved in fertilization and flagellated sperm motility. Predicted to act upstream of or within binding activity of sperm to zona pellucida; positive regulation of gene expression; and regulation of mRNA processing. Predicted to be located in several cellular components, including cell surface; membrane raft; and sperm head. Predicted to be part of protein-containing complex. Implicated in brain glioma and conjunctival squamous cell carcinoma. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 9.1) See more
ADAM3B, Official Symbol ADAM3Bprovided by HGNC Official Full Name ADAM metallopeptidase domain 3B (pseudogene)provided by HGNC Primary source HGNC:HGNC:210 See related Ensembl:ENSG00000260089 AllianceGenome:HGNC:210 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CYRN2
ADAM5, Official Symbol ADAM5provided by HGNC Official Full Name ADAM metallopeptidase domain 5 (pseudogene)provided by HGNC Primary source HGNC:HGNC:212 See related Ensembl:ENSG00000196115 AllianceGenome:HGNC:212 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ADAM5P; TMDCII Summary Predicted to be involved in binding activity of sperm to zona pellucida and cell adhesion. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 9.6) See more
ADAM7, Official Symbol ADAM7provided by HGNC Official Full Name ADAM metallopeptidase domain 7provided by HGNC Primary source HGNC:HGNC:214 See related Ensembl:ENSG00000069206 MIM:607310; AllianceGenome:HGNC:214 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EAPI; GP83; GP-83; ADAM 7; ADAM-7 Summary This gene encodes a member of the ADAMs family of zinc proteases. These transmembrane proteins play roles in multiple processes including cell signaling, adhesion and migration. The encoded protein lacks protease activity and may play roles in protein-protein interactions and cell adhesion processes including sperm-egg fusion. Mutations in this gene may be involved in the progression of melanoma. [provided by RefSeq, Oct 2011] Expression Low expression observed in reference dataset See more Orthologs mouse all
ADAM8, Official Symbol ADAM8provided by HGNC Official Full Name ADAM metallopeptidase domain 8provided by HGNC Primary source HGNC:HGNC:215 See related Ensembl:ENSG00000151651 MIM:602267; AllianceGenome:HGNC:215 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MS2; CD156; CD156a Summary This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2009] Expression Biased expression in bone marrow (RPKM 22.3), spleen (RPKM 13.4) and 12 other tissues See more Orthologs mouse all
ADAM9, Official Symbol ADAM9provided by HGNC Official Full Name ADAM metallopeptidase domain 9provided by HGNC Primary source HGNC:HGNC:216 See related Ensembl:ENSG00000168615 MIM:602713; AllianceGenome:HGNC:216 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MCMP; MDC9; CORD9; Mltng Summary This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene interacts with SH3 domain-containing proteins, binds mitotic arrest deficient 2 beta protein, and is also involved in TPA-induced ectodomain shedding of membrane-anchored heparin-binding EGF-like growth factor. Several alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2010] Expression Ubiquitous expression in gall bladder (RPKM 19.8), urinary bladder (RPKM 16.8) and 24 other tissues See more Orthologs mouse all