TGFBR2( Human )

Entrez Gene 7048 Entrez Gene 7048
transforming growth factor beta receptor 2

Alias

AAT3|FAA3|LDS1B|LDS2|LDS2B|MFS2|RIIC|TAAD2|TGFR-2|TGFbeta-RII

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, Jul 2008].

Product Category