ACVR2A - Gene Detail
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| Gene Symbol | ACVR2A | ||||||||||
| Synonyms | ACTRII | ACVR2 | ||||||||||
| Gene Description | ACVR2A, activin A receptor type 2A, is a type II receptor serine/threonine kinase belonging to the TGF-beta superfamily, which forms a complex with type I receptors and binds several ligands, including activin A and BMP7, to mediate downstream signaling (PMID: 19538713, PMID: 15451563, PMID: 31817503), and plays a role in cardiac function (PMID: 30842316), muscle growth (PMID: 33219121, PMID: 39994804), and negative regulation of bone mass (PMID: 28659341). ACVR2A mutations have been identified in colon and gastric cancers with high microsatellite instability (PMID: 32440149, PMID: 33420656, PMID: 14988818), and small bowel adenocarcinoma (PMID: 29522538), and a fusion with RAF1 has been identified in spindle cell sarcoma (PMID: 39950347). | ||||||||||
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