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FLASH GENE
Symbol PDGFRB contributors: mct/pgu - updated : 15-07-2013
HGNC name platelet-derived growth factor receptor, beta polypeptide
HGNC id 8804
Corresponding disease
BGCI4 idiopathic basal ganglia calcification-4
IMF1 infantile myofibromatosis-1
Location 5q32      Physical location : 149.493.402 - 149.535.422
Synonym name
  • beta platelet-derived growth factor receptor
  • soluble PDGFRb variant 1
  • CD140 antigen-like family member B
  • CD140b antigen
  • Synonym symbol(s) PDGFR, JTK12, CD140B, PDGFR1, PDGF-R-beta, IBGC4,
    EC.number 2.7.10.1
    DNA
    TYPE functioning gene
    STRUCTURE 42.02 kb     23 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter (CAAT box)
    text structure
  • TP53 binds the proximal promoter containing the CCAAT motif ( Tp53 represses the PDGFRB promoter, facilitating the Tp53-induced apoptosis)
  • GC-rich region (-165 to -139) of the promoter is crucial for basal promoter activity
  • promoter region is extensively demethylated following differentiation, and represents a developmentally regulated, differentially methylated region linked to PDGFRB expression
  • MAPPING cloned Y linked N status confirmed
    Map see CSF1R
    Physical map
    ADRB2 5q31.3 adrenergic, beta-2-, receptor, surface KIAA1985 LOC255187 5q33.1 hypothetical LOC255187 KIAA0843 FLJ36748 5q33.1 hypothetical protein FLJ36748 GRPEL2 5q33.1 GrpE-like 2, mitochondrial (E. coli) MGC3265 5q33.1 hypothetical protein MGC3265 IL17B 5q32-34 interleukin 17B CSNK1A1 13q13 casein kinase 1, alpha 1 LOC389337 5 similar to hypothetical protein 4933429F08 PERC 5q33.1 similar to hypothetical protein 4933429F08 PDE6A 5q31.3 phosphodiesterase 6A, cGMP-specific, rod, alpha SLC26A2 5q31.3 solute carrier family 26 (sulfate transporter), member 2 TIGD6 5q32 tigger transposable element derived 6 RPS20P4 5q33-qter ribosomal protein S20 pseudogene 4 CSF1R 5q31.3 colony stimulating factor 1 receptor, formerly McDonough feline sarcoma viral (v-fms) oncogene homolog RPL7P 5q33.3 ribosomal protein L7 pseudogene PDGFRB 5q31.3 platelet-derived growth factor receptor, beta polypeptide CDX1 5q31.3 caudal type homeo box transcription factor 1 SLC6A7 5q31-q32 solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 CAMK2A 5q33.2 calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha LOC340075 5q33.1 similar to RIKEN cDNA 9330196J05 TCOF1 5q32-q33.1 Treacher Collins-Franceschetti syndrome 1 CD74 5q31.3 CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated) RPS14 5q32 ribosomal protein S14 NDST1 5q31.3-q32 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 SYNPO 5q33.1 synaptopodin MYOZ3 5q33.1 myozenin 3 FLJ10290 5q33.1 hypothetical protein FLJ10290 DCTN4 5q31-q32 dynactin 4 (p62) NID67 5q33.1 putative small membrane protein NID67 LRG47 5q33.1 LRG-47-like protein ZNF300 21 zinc finger protein 300 GPX3 5q23 glutathione peroxidase 3 (plasma) TNIP1 5q32-q33.1 TNFAIP3 interacting protein 1 ANXA6 5q32 annexin A6 DKFZP434C171 5q33.1 DKFZP434C171 protein GM2A 5q32 GM2 ganglioside activator protein SLC36A3 5q33.1 solute carrier family 36 (proton/amino acid symporter), member 3 SLC36A2 5q33.1 solute carrier family 36 (proton/amino acid symporter), member 2 LOC391840 5 similar to Thyroid hormone receptor-associated protein complex 240 kDa component (Trap240) (Activator-recruited cofactor 250 kDa component) (ARC250) LOC391841 5 similar to hypothetical protein DKFZp761H0421
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    23 - 5718 - 1106 - 1995 7641887
    EXPRESSION
    Rna function mRNA for PDGFRB only in 25p100 of the oocytes
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon highly
    Endocrinepancreas     Homo sapiens
    Nervousbrain   highly Homo sapiens
    Reproductivefemale systemovary  highly
    Respiratoryrespiratory tractlarynx  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...) Homo sapiens
    Nervousastrocyte Homo sapiens
    Nervousneuron Homo sapiens
    not specificfibroblast Homo sapiensFetal
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period growth/childhood
    Text
  • PDGFRB levels were markedly reduced in islet beta-cells at 6 weeks and 6 months of age, compared to neonatal islets
  • 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
  • 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
  • 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
    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
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • PDGFRB inhibition selectively eliminates morphine tolerance in rats