TGF Beta Receptor II (TGFBR2) Antibody – Rabbit Polyclonal

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]

TGFBR2: a TKL kinase of the serine/threonine-protein kinase receptor (STKR) family. R1 and R2 TGF-beta receptors dimerize after binding TGF-beta at the cell surface. Binds to DAXX. Defects can cause esophageal cancer.

Protein type: EC 2.7.11.30; Kinase, protein; Membrane protein, integral; Oncoprotein; Protein kinase, Ser/Thr (receptor); Protein kinase, TKL; STKR family; TKL group; Type2 subfamily

Chromosomal Location of Human Ortholog: 3p24.1

Cellular Component: caveola; cytosol; external side of plasma membrane; integral to membrane; lipid raft; plasma membrane; receptor complex

Molecular Function: glycosaminoglycan binding; protein binding; SMAD binding; transforming growth factor beta binding; transforming growth factor beta receptor activity; transmembrane receptor protein serine/threonine kinase activity

Biological Process: activation of protein kinase activity; apoptosis; blood vessel development; brain development; embryonic cranial skeleton morphogenesis; embryonic hemopoiesis; heart development; heart looping; myeloid dendritic cell differentiation; negative regulation of transforming growth factor beta receptor signaling pathway; palate development; patterning of blood vessels; peptidyl-serine phosphorylation; peptidyl-threonine phosphorylation; positive regulation of B cell tolerance induction; positive regulation of cell proliferation; positive regulation of mesenchymal cell proliferation; positive regulation of NK T cell differentiation; positive regulation of T cell tolerance induction; positive regulation of tolerance induction to self antigen; protein amino acid phosphorylation; regulation of cell proliferation; response to drug; transforming growth factor beta receptor signaling pathway; vasculogenesis

Disease: Colorectal Cancer, Hereditary Nonpolyposis, Type 6; Esophageal Cancer; Loeys-dietz Syndrome 2