Enables several functions, including transforming growth factor beta binding activity; transforming growth factor beta receptor activity, type II; and transforming growth factor beta receptor binding activity. Involved in several processes, including circulatory system development; positive regulation of CD4-positive, alpha-beta T cell proliferation; and positive regulation of SMAD protein signal transduction. Located in caveola; external side of plasma membrane; and extracellular space. Part of transforming growth factor beta ligand-receptor complex. Implicated in several diseases, including Loeys-Dietz syndrome 2; Lynch syndrome (multiple); Marfan syndrome; gastrointestinal system cancer (multiple); and mismatch repair cancer syndrome. Biomarker of arteriosclerosis; pancreatic cancer; pancreatic ductal carcinoma; and vasculogenic impotence.
RGD Description
The protein encoded by this gene is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with TGF-beta receptor type-1, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of genes related to cell proliferation, cell cycle arrest, wound healing, immunosuppression, and tumorigenesis. 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, Aug 2017]