TGF Beta Receptor 2

TGF Beta Receptor 2

Identifiers Symbols TGFBR2; AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC; TAAD2; TGFR-2; TGFbeta-RII External IDs OMIM: 190182 MGI: 98729 HomoloGene: 2435 ChEMBL: 4267 GeneCards: TGFBR2 Gene EC number 2.7.11.30

Gene Ontology
Molecular function	• transmembrane receptor protein serine/threonine kinase activity • receptor signaling protein serine/threonine kinase activity • transforming growth factor beta-activated receptor activity • transforming growth factor beta receptor activity, type II • protein binding • ATP binding • glycosaminoglycan binding • mitogen-activated protein kinase kinase kinase binding • type I transforming growth factor beta receptor binding • type III transforming growth factor beta receptor binding • SMAD binding • metal ion binding • transforming growth factor beta binding
Cellular component	• cytosol • plasma membrane • caveola • external side of plasma membrane • integral to membrane • receptor complex • transforming growth factor beta receptor homodimeric complex
Biological process	• blood vessel development • patterning of blood vessels • vasculogenesis • in utero embryonic development • positive regulation of mesenchymal cell proliferation • lens development in camera-type eye • positive regulation of tolerance induction to self antigen • positive regulation of B cell tolerance induction • positive regulation of T cell tolerance induction • protein phosphorylation • receptor-mediated endocytosis • apoptotic process • transforming growth factor beta receptor signaling pathway • common-partner SMAD protein phosphorylation • smoothened signaling pathway • gastrulation • brain development • heart development • embryo implantation • aging • response to nutrient • positive regulation of cell proliferation • response to mechanical stimulus • response to glucose stimulus • positive regulation of epithelial cell migration • peptidyl-serine phosphorylation • peptidyl-threonine phosphorylation • negative regulation of transforming growth factor beta receptor signaling pathway • organ regeneration • activation of protein kinase activity • embryonic hemopoiesis • wound healing • regulation of cell proliferation • response to drug • myeloid dendritic cell differentiation • positive regulation of skeletal muscle tissue regeneration • response to estrogen stimulus • digestive tract development • positive regulation of smooth muscle cell proliferation • embryonic cranial skeleton morphogenesis • positive regulation of NK T cell differentiation • cartilage development • palate development • negative regulation of cardiac muscle cell proliferation • pathway-restricted SMAD protein phosphorylation • bronchus morphogenesis • trachea formation • mammary gland morphogenesis • lung lobe morphogenesis • response to cholesterol • positive regulation of reactive oxygen species metabolic process
Sources: Amigo / QuickGO

RNA expression pattern More reference expression data Orthologs Species Human Mouse Entrez 7048 21813 Ensembl ENSG00000163513 ENSMUSG00000032440 UniProt P37173 Q62312 RefSeq (mRNA) NM_001024847 NM_009371 RefSeq (protein) NP_001020018 NP_033397 Location (UCSC) Chr 3:
30.65 – 30.74 Mb Chr 9:
116.09 – 116.18 Mb PubMed search

Transforming growth factor, beta receptor II (70/80kDa) is a TGF beta receptor. TGFBR2 is its human gene.

It is a tumor suppressor gene.

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, Osler-Weber-Rendu syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized.