TGF-Beta Receptor Type-2 (TGFBR2) Human Recombinant Protein

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

Chromosomal Location of Human Ortholog: 3p22

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

Molecular Function: transforming growth factor beta receptor activity; protein binding; glycosaminoglycan binding; transforming growth factor beta receptor activity, type II; transforming growth factor beta binding; metal ion binding; mitogen-activated protein kinase kinase kinase binding; SMAD binding; ATP binding; transmembrane receptor protein serine/threonine kinase activity; receptor signaling protein serine/threonine kinase activity

Biological Process: lens development in camera-type eye; wound healing; apoptosis; positive regulation of smooth muscle cell proliferation; heart development; myeloid dendritic cell differentiation; gastrulation; palate development; positive regulation of tolerance induction to self antigen; protein amino acid phosphorylation; negative regulation of cardiac muscle cell proliferation; transforming growth factor beta receptor signaling pathway; positive regulation of mesenchymal cell proliferation; positive regulation of cell proliferation; response to glucose stimulus; positive regulation of NK T cell differentiation; vasculogenesis; positive regulation of T cell tolerance induction; response to nutrient; aging; response to drug; blood vessel development; receptor-mediated endocytosis; smoothened signaling pathway; organ regeneration; positive regulation of skeletal muscle regeneration; in utero embryonic development; embryonic hemopoiesis; common-partner SMAD protein phosphorylation; peptidyl-threonine phosphorylation; embryonic cranial skeleton morphogenesis; regulation of cell proliferation; patterning of blood vessels; peptidyl-serine phosphorylation; positive regulation of angiogenesis; gut development; response to estrogen stimulus; regulation of gene expression; response to mechanical stimulus; positive regulation of B cell tolerance induction; activation of protein kinase activity; brain development; negative regulation of transforming growth factor beta receptor signaling pathway; embryo implantation

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