Description
TGFBR2 (transforming growth factor, beta receptor II (70/80kDa)), also known as TGF-beta receptor type-2, TGFR-2, TGF-beta type II receptor, Transforming growth factor-beta receptor type II (TGF-beta receptor type II, TbetaR-II), is a member of the Ser/Thr protein kinase family and the TGFB receptor subfamily. A TGFBR2 cDNA encodes a deduced 565-amino acid protein with a calculated molecular mass of approximately 60 kD in length. 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, Osler-Weber-Rendu syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different informs have been characterized