TGFBR2 Antibody

Transforming growth factor, beta receptor II, also known as TGFBR2 and TGFR-2, is a member of the Ser/Thr protein kinase family and the TGFB receptor subfamily. A TGFBR2 cDNA encoding 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 withMarfan syndrome,Loeys-Deitz aortic aneurysm syndrome,Osler-Weber-Rendu syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. TGFBR2 may be a target of the EWS-FLI1 fusion protein found in Ewing sarcoma and related peripheral primitive neuroectodermal tumors.