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: Kinase, protein; Protein kinase, TK; EC 2.7.10.1; Protein kinase, tyrosine (receptor); Membrane protein, integral; Oncoprotein; TK group; PDGFR family
Chromosomal Location of Human Ortholog: 5q33.1
Cellular Component: lysosomal lumen; focal adhesion; cell surface; membrane; apical plasma membrane; cytoplasm; cytoplasmic membrane-bound vesicle; integral to membrane; plasma membrane; nucleus; intrinsic to plasma membrane
Molecular Function: protein binding; platelet activating factor receptor activity; protein-tyrosine kinase activity; platelet-derived growth factor binding; platelet-derived growth factor beta-receptor activity; platelet-derived growth factor receptor binding; phosphoinositide 3-kinase binding; platelet-derived growth factor receptor activity; protein kinase binding; ATP binding; receptor binding
Biological Process: positive regulation of phosphoprotein phosphatase activity; peptidyl-tyrosine phosphorylation; wound healing; nerve growth factor receptor signaling pathway; response to toxin; protein amino acid autophosphorylation; positive regulation of smooth muscle cell proliferation; positive regulation of collagen biosynthetic process; platelet-derived growth factor receptor signaling pathway; cardiac myofibril assembly; signal transduction; positive regulation of smooth muscle cell migration; response to estradiol stimulus; smooth muscle development; positive regulation of MAP kinase activity; positive regulation of cell proliferation; tissue homeostasis; phosphatidylinositol metabolic process; regulation of peptidyl-tyrosine phosphorylation; inner ear development; epidermal growth factor receptor signaling pathway; cell migration; fibroblast growth factor receptor signaling pathway; response to retinoic acid; phosphoinositide-mediated signaling; positive regulation of mitosis; in utero embryonic development; positive regulation of chemotaxis; adrenal gland development; positive regulation of phosphoinositide 3-kinase activity; positive regulation of phosphoinositide 3-kinase cascade; glycosaminoglycan biosynthetic process; G-protein coupled receptor protein signaling pathway; response to hyperoxia; response to hydrogen peroxide; skeletal morphogenesis; regulation of actin cytoskeleton organization and biogenesis; innate immune response; negative regulation of apoptosis; positive regulation of cell migration
Disease: Myeloproliferative Disorder, Chronic, With Eosinophilia; Myofibromatosis, Infantile, 1; Basal Ganglia Calcification, Idiopathic, 1; Basal Ganglia Calcification, Idiopathic, 4
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