PDGFRB: a receptor tyrosine kinase of the PDGFR family that binds members of the platelet-derived growth factor family. The identity of the growth factor bound determines whether the functional receptor is a homodimer or a heterodimer, composed of both PDGFR-alpha and -beta. Ligand binding induces receptor dimerization and autophosphorylation, thereby recruiting SH2-containing proteins including Grb2, Src, GAP, PTPN11, PI3 kinase, PLC-gamma and Nck. Regulates cell growth, actin reorganization, migration and differentiation. A variety of myeloproliferative disorders and cancers result from translocations that activate PDGFRbeta by fusion with proteins such as TEL/ETV6, H2, CEV14/TRP11, rabaptin 5, and huntington interacting protein 1. Gleevec treatment of TEL fusions has been successful. Overexpressed in metastatic medulloblastoma. Inhibitors: Gleevec, Sutent.
Protein type: Membrane protein, integral; EC 2.7.10.1; Oncoprotein; Kinase, protein; Protein kinase, tyrosine (receptor); Protein kinase, TK; TK group; PDGFR family
Chromosomal Location of Human Ortholog: 5q33.1
Cellular Component: apical plasma membrane; cytoplasm; focal adhesion; intrinsic to plasma membrane; membrane; nucleus; plasma membrane
Molecular Function: phosphatidylinositol-4,5-bisphosphate 3-kinase activity; platelet activating factor receptor activity; platelet-derived growth factor beta-receptor activity; platelet-derived growth factor binding; platelet-derived growth factor receptor activity; platelet-derived growth factor receptor binding; protein binding; protein kinase binding; protein-tyrosine kinase activity; Ras guanyl-nucleotide exchange factor activity; receptor binding
Biological Process: cardiac myofibril assembly; cell migration; MAPKKK cascade; peptidyl-tyrosine phosphorylation; phosphatidylinositol metabolic process; phosphoinositide-mediated signaling; platelet-derived growth factor receptor signaling pathway; positive regulation of cell migration; positive regulation of cell proliferation; positive regulation of chemotaxis; positive regulation of MAP kinase activity; positive regulation of mitosis; positive regulation of phosphoinositide 3-kinase activity; positive regulation of phosphoinositide 3-kinase cascade; positive regulation of phosphoprotein phosphatase activity; positive regulation of smooth muscle cell migration; positive regulation of smooth muscle cell proliferation; protein amino acid autophosphorylation; regulation of actin cytoskeleton organization and biogenesis; regulation of phosphoinositide 3-kinase cascade; signal transduction
Disease: Basal Ganglia Calcification, Idiopathic, 1; Basal Ganglia Calcification, Idiopathic, 4; Kosaki Overgrowth Syndrome; Myeloproliferative Disorder, Chronic, With Eosinophilia; Myofibromatosis, Infantile, 1; Premature Aging Syndrome, Penttinen Type
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