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FLASH GENE
Symbol PDGFRB contributors: mct/pgu - updated : 15-07-2016
HGNC name platelet-derived growth factor receptor, beta polypeptide
HGNC id 8804
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • five extracellular Ig-like motifs
  • a transmembrane segment (1TM)
  • a cytoplasmic split tyrosine kinase domain
    • mono polymer homomer , heteromer , dimer
    HOMOLOGY
    Homologene
    FAMILY
  • protein kinase superfamily
  • Tyr protein kinase family
  • CSF-1/PDGF receptor subfamily
    • CATEGORY signaling cytokine growth factor , receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,nucleus
    basic FUNCTION
  • receptor tyrosine kinase, class III, phosphorylating Tyr residues at the C-terminus of PTPN11 creating a binding site for the SH2 domain of GRB2
  • mitogen for mesenchyme-derived cells, including fibroblasts and smooth muscle
  • phosphorylates GRK2 tyrosyl residues and thereby activates GRK2, which then serine-phosphorylates and desensitizes the PDGFRbeta
  • PDGFRB signaling is crucial for neuroprotection, endogenous tissue repair, and functional recovery after stroke by targeting neurons,pericyte/vascular smooth muscle cells, and astrocytes
  • required for the development of mesenchymal cell types, and plays a diverse role in the function of fibroblasts in tissue homeostasis and regeneration
  • PDGFRB-mediated signaling plays a key role in morphine tolerance
  • has an essential role in vascular progenitor cell signaling (pMID: 31031011)
    • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
  • PDGFRB-AKT1 signaling in brain pericytes may play various important roles leading to neuroprotection after ischemic stroke
    • a component
  • homodimerizing and heterodimerizing with PDGFRA
    • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP
    • protein
  • binds specifically to PDGFRA and has a tyrosine-protein kinase activity
  • interacting with NRP1 (influences ligand-induced PDGFRB homodimer signalling)
  • important interactive relationship between SLC6A4 and the PDGFRB in the production of pulmonary artery smooth muscle cell proliferation triggered by PDGF that may be important in pulmonary hypertension (PH)
  • LRP6 forms a complex with PDGFRB and promotes its degradation
  • SH2B3 is a negative regulator of PDGFR signaling
  • in aortic smooth muscle cells, TGM2 specifically amplifies the activation of PDGFRB and its multiple downstream signaling targets in response to PDGF-BB
  • ETV6-PDGFRB antagonizes the effects of ETV6 and IRF8 on PTPN13 transcription
  • PDGFRB/MAPK1 signalling pathway triggered by FGF2 plays an important role in the proliferation and migration of endothelial progenitor cells
  • involved in angiogenesis and in the regulation of inorganic phosphate (Pi) transport in vascular smooth
    • muscle cells via SLC20A1
  • PDGFRB expression was upregulated by NOTCH3 ligand induction or by activated forms of the NOTCH3 receptor
  • affects the intracellular sorting of activated PDGFRB and the migration, proliferation and tumorigenicity of cells stimulated by PDGF
    • cell & other
    REGULATION
    activated by constitutively activated through amino-acid(s) substitution in a WW-like domain (phosphoserine- or phosphothreonine binding)
    repressed by ZNF24
    Other phosphorylated by PTPN11 controlling Ras GAP recruitement and Ras MAP kinase signaling in the heterodimeric configuration of PDGF receptors
    ligand-mediated stabilization of specific G-quadruplex structures in the promoter can modulate its transcription
    ASSOCIATED DISORDERS
    corresponding disease(s) IMF1 , BGCI4 , PENTT , POGS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       gain of function
    in clear cell renal carcinoma with favourable outcome
    tumoral fusion translocation   protein chimeric
    t(5;12)(q33;p13) in myelodysplasia, myeloproliferative disorders (MPS), chronic myelocytic leukemia (CMLL), with fusion 5' - ETV66 - PDGFRB - 3'
    constitutional germinal mutation      
    gain of function mutation in the activation loop deregulates its kinase activity
    tumoral fusion translocation    
    somatic traslocations in various hematological disorders resulting in PDGFRB/D10S170 fusion gene, PDGFRB/RABPT5 fusion gene, PDGFRB/HIP1 fusion gene and other partners genes
    tumoral fusion      
    with MYO18A in an eosinophilia-associated atypical myeloproliferative neoplasm with a t(5;17)(q33-34;q11.2)
    tumoral fusion      
    to SPTBN1 in imatinib-responsive atypical myeloproliferative disorders
    constitutional somatic mutation      
    in intracerebral fusiform aneurysms
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • PDGFRB inhibition selectively eliminates morphine tolerance in rats