Entrez gene ID | | 7048 |
Official gene symbol | | TGFBR2 |
Full name | | transforming growth factor, beta receptor II (70/80kDa) |
Aliases | | ,AAT3,FAA3,LDS1B,LDS2B,MFS2,RIIC,TAAD2,TGFR-2,TGFbeta-RII, |
Gene summary | | This gene encodes a member of the Ser/Thr protein kinase family and the TGFB receptor subfamily. The encoded protein is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with another receptor protein, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of a subset of genes related to cell proliferation. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. [provided by RefSeq] |
Location | | Chromosome: 3 Locus: 3p22 |
Gene position | | 30647994 - 30735634 Map Viewer |
Gene orientation | | plus |
Gene size | | 87641 bp |
Gene sequence |
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OMIM ID | | 190182 |
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