TGFBR2

TGF-beta receptor type-2 ;
TGFR-2 ;
TGF-beta type II receptor ;
Transforming growth factor-beta receptor type II ;
TGF-beta receptor type II ;
TbetaR-II ;

catalytic activity:ATP + [receptor-protein] = ADP + [receptor-protein] phosphate.,cofactor:Magnesium or manganese.,disease:Defects in TGFBR2 are a cause of esophageal cancer [MIM:133239].,disease:Defects in TGFBR2 are the cause of aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]. Aneurysms and dissections of the aorta usually result from degenerative changes in the aortic wall. Thoracic aortic aneurysms and dissections are primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. AAT3 is an autosomal dominant disorder with reduced penetrance and variable expression.,disease:Defects in TGFBR2 are the cause of hereditary non-polyposis colorectal cancer type 6 (HNPCC6) [MIM:190182]. Mutations in more than one gene locus can be involved alone or in combination in the production of the HNPCC phenotype (also called Lynch syndrome). Most families with clinically recognized HNPCC have mutations in either MLH1 or MSH2 genes. HNPCC is an autosomal, dominantly inherited disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early onset colorectal carcinoma (CRC) and extra-colonic cancers of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world, and accounts for 15% of all colon cancers. Cancers in HNPCC originate within benign neoplastic polyps termed adenomas. Clinically, HNPCC is often divided into two subgroups. Type I: hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II: patients have an increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term "suspected HNPCC" or "incomplete HNPCC" can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. HNPCC6 is a type of colorectal cancer complying with the clinical criteria of HNPCC, except that the onset of cancer was beyond 50 years of age in all cases.,disease:Defects in TGFBR2 are the cause of Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]. LDS1 is an aortic aneurysm syndrome with widespread systemic involvement. The disorder is characterized by arterial tortuosity and aneurysms, craniosynostosis, hypertelorism, and bifid uvula or cleft palate. Other findings include exotropy, micrognathia and retrognathia, structural brain abnormalities, intellectual deficit, congenital heart disease, translucent skin, joint hyperlaxity and aneurysm with dissection throughout the arterial tree.,disease:Defects in TGFBR2 are the cause of Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]; formerly Marfan syndrome type 2. LDS2 is an aortic aneurysm syndrome with widespread systemic involvement. Physical findings include prominent joint laxity, easy bruising, wide and atrophic scars, velvety and translucent skin with easily visible veins, spontaneous rupture of the spleen or bowel, diffuse arterial aneurysms and dissections, and catastrophic complications of pregnancy, including rupture of the gravid uterus and the arteries, either during pregnancy or in the immediate postpartum period. LDS2 is characterized by the absence of craniofacial abnormalities with the exception of bifid uvula that can be present in some patients.,function:On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for TGF-beta.,PTM:Phosphorylated on a Ser/Thr residue in the cytoplasmic domain.,similarity:Belongs to the protein kinase superfamily.,similarity:Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.,similarity:Contains 1 protein kinase domain.,subunit:Binds to DAXX. Interacts with TCTEX1D4.,

skeletal system development, angiogenesis, blood vessel development, patterning of blood vessels, vasculogenesis,morphogenesis of a branching structure, myeloid dendritic cell activation, cell activation, vasculature development,positive regulation of mesenchymal cell proliferation, myeloid leukocyte activation, immune system development,leukocyte differentiation, myeloid leukocyte differentiation, regulation of tolerance induction, positive regulation of tolerance induction, regulation of tolerance induction to self antigen, positive regulation of tolerance induction to self antigen, regulation of B cell tolerance induction, positive regulation of B cell tolerance induction, regulation of T cell tolerance induction, positive regulation of T cell tolerance induction, positive regulation of immune system process,regulation of leukocyte activation, positive regulation of leukocyte activation, protein amino acid phosphorylation,phosphorus metabolic process, phosphate metabolic process, endocytosis, receptor-mediated endocytosis, cell surface receptor linked signal transduction, enzyme linked receptor protein signaling pathway, transmembrane receptor protein serine/threonine kinase signaling pathway, transforming growth factor beta receptor signaling pathway, common-partner SMAD protein phosphorylation, pattern specification process, heart development, female pregnancy, embryo implantation, response to nutrient, positive regulation of cell proliferation, negative regulation of cell proliferation, response to wounding, response to mechanical stimulus, response to abiotic stimulus, response to endogenous stimulus, response to hormone stimulus, response to carbohydrate stimulus, response to hexose stimulus, response to glucose stimulus, embryonic development ending in birth or egg hatching, response to extracellular stimulus, response to organic substance, membrane invagination, regulation of mesenchymal cell proliferation, response to organic cyclic substance, membrane organization, vesicle-mediated transport, regulation of striated muscle tissue development, phosphorylation, peptidyl-serine phosphorylation, peptidyl-threonine phosphorylation, peptidyl-serine modification, peptidyl-threonine modification, regulation of phosphate metabolic process, hemopoiesis, myeloid cell differentiation, respiratory tube development, lung development, response to nutrient levels, regulation of response to external stimulus, activation of protein kinase activity, positive regulation of kinase activity, response to lipid, response to monosaccharide stimulus, embryonic hemopoiesis, tube morphogenesis,tube development, regulation of growth, wound healing, regulation of cell proliferation, regulation of phosphorylation,response to drug, chordate embryonic development, myeloid dendritic cell differentiation, positive regulation of catalytic activity, positive regulation of skeletal muscle regeneration, regulation of skeletal muscle regeneration,regulation of kinase activity, response to estrogen stimulus, positive regulation of molecular function, leukocyte activation, regulation of T cell differentiation, positive regulation of T cell differentiation, positive regulation of cell differentiation, regulation of lymphocyte differentiation, positive regulation of lymphocyte differentiation, regulation of protein kinase activity, positive regulation of protein kinase activity, positive regulation of growth, regulation of organ growth, regulation of alpha-beta T cell activation, positive regulation of alpha-beta T cell activation, regulation of alpha-beta T cell differentiation, positive regulation of alpha-beta T cell differentiation, blood vessel morphogenesis,hemopoietic or lymphoid organ development, response to steroid hormone stimulus, embryonic organ morphogenesis,embryonic organ development, embryonic morphogenesis, regulation of muscle development, regulation of developmental growth, positive regulation of developmental growth, regulation of smooth muscle cell proliferation,positive regulation of smooth muscle cell proliferation, embryonic cranial skeleton morphogenesis, embryonic skeletal system morphogenesis, skeletal system morphogenesis, embryonic skeletal system development, branching morphogenesis of a tube, regulation of T cell activation, regulation of cell activation, positive regulation of cell activation, positive regulation of T cell activation, positive regulation of developmental process, regulation of NK T cell differentiation, positive regulation of NK T cell differentiation, regulation of phosphorus metabolic process, negative regulation of multicellular organismal process, regulation of lymphocyte activation, positive regulation of lymphocyte activation, regulation of transferase activity, positive regulation of transferase activity, regulation of cardiac muscle growth, regulation of cardiac muscle tissue development, palate development, regulation of cardiac muscle cell proliferation, negative regulation of cardiac muscle cell proliferation, pathway-restricted SMAD protein phosphorylation,regulation of heart growth, respiratory system development, response to cholesterol,

Cell membrane ; Single-pass type I membrane protein . Membrane raft .; [Isoform 3]: Secreted .