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FLASH GENE
Symbol PDGFB contributors: mct/ - updated : 05-11-2015
HGNC name platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)
HGNC id 8800
Corresponding disease
BGCI5 idiopathic basal ganglia calcification-5
DFSP dermatofibrosarcoma protuberans (Darier-Ferrand-tumor)
Location 22q13.1      Physical location : 39.619.686 - 39.640.957
Synonym name
  • oncogene SIS
  • becaplermin
  • platelet-derived growth factor 2
  • platelet-derived growth factor, B chain
  • v-sis platelet-derived growth factor beta polypeptide (simian sarcoma viral oncogene homolog)
  • Synonym symbol(s) SIS, PDGF2, SSV, c-sis, IBGC5, PDGF-2
    DNA
    TYPE virus associated
    STRUCTURE 21.27 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map cen - D22S28 ,D22S29 - APOBEC3B - PDGFB - P1 - CYP2D@ - qter
    Physical map
    NPTXR 22q13.1 neuronal pentraxin receptor CBX6 22q13.1 chromobox homolog 6 APOBEC3A 22q13.1-q13.2 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A APOBEC3B 22q12-q13 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B APOBEC3C 22q12-q13 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C APOBEC3D 22q12-q13 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D APOBEC3E 22q12-q13 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene APOBEC3F 22q12-q13 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F APOBEC3G 22q12-q13 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G ARP10 22q13.1 ARP10 protein COX5BL7 22pter-p13 cytochrome c oxidase subunit Vb-like 7 CBX7 22q13.1 chromobox homolog 7 LOC391332 22 similar to hepatitis C virus core-binding protein 6; cervical cancer oncogene 3 FLJ23865 22q13.1 hypothetical protein FLJ23865 PDGFB 22q13.1 platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog) RPL3 22q13.1 ribosomal protein L3 SYNGR1 22q13.1 synaptogyrin 1 MAP3K7IP1 22q13.1 mitogen-activated protein kinase kinase kinase 7 interacting protein 1 LOC388902 22 LOC388902 MGAT3 22q13.1 mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase FLJ20232 22q13 hypothetical protein FLJ20232
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 splicing 3393 27.28 241 - 2010 20083221
  • a 7 exons variant
  • lacking exon 2
  • encoding for the longer isoform 1
  • 7 splicing 2396 25.6 226 - 2010 20083221
  • a 7 exons variant
  • lacking exon 1
  • encoding for the shorter isoform 2
  • EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   lowly
     vessel   highly
    Digestiveintestinelarge intestinecolon lowly
     mouth   highly
    Nervousbrain   moderately
    Reproductivefemale systemplacenta  moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoietic   highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticplatelet
    Reproductivegranulosa cell Homo sapiens
    Reproductiveoocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , heteromer , dimer
    HOMOLOGY
    interspecies homolog to rattus Pdgfb (87.97 pc)
    homolog to murine Pdgfb (89.63 pc)
    Homologene
    FAMILY
  • PDGF/VEGF growth factor family
  • CATEGORY protooncogene , signaling cytokine growth factor
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    basic FUNCTION
  • potent mitogen for cells of mesenchymal origin, also involved in transformation process
  • potent negative regulator of smooth muscle cell (SMC) differentiation
  • might be involved in the activation of primordial follicles
  • growth factor involved in the recruitment and function of pericytes
  • PDGFB signaling in trophoblasts is a key component of the unique placental hematopoietic microenvironment that protects hematopoietic stem/progenitor cell (HSPC) from premature differentiation
  • induces senescence and transformation in normal human fibroblasts, but has a limited ability to induce senescence
  • mitogen for hepatic stellate cells (HSC)
  • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    cell to cell signaling
    a component
  • homodimerizing or heterodimerizing with PDGFA,(PDGFBB or PDGFAB)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PDGFRA, PDGFRB
  • XLKD1
  • PDGFB may regulate THBD expression in VSMCs during vascular remodelling
  • SERPINA12 significantly inhibited PDGFB-induced smooth muscle cells (SMCs) migration
  • PDGFB-induced activation of MAPK14 was significantly suppressed by SERPINA12
  • SF1 antagonizes PDGFB-induced growth and dedifferentiation of vascular smooth muscle cells
  • LHX2 promotes tumor growth and metastasis by inducing autocrine and paracrine PDGFB signaling
  • NOTCH2 inhibits PDGFB-dependent proliferation and its expression is decreased by PDGFB
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFSP , BGCI5
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   translocation --other protein chimeric
    translocation t(17;22) (q22;q13) with chimeric proteins 5' - COL1A1 - PDGFB - 3' in meningiomas, in dermatofibrosarcoma protuberans
    constitutional     --low  
    in human venous malformations (VM) lesions
    constitutional       loss of function
    increases hepatic vascular permeability and enhances insulin sensitivity
    Susceptibility
  • meningiomas
  • dermatofibrosarcoma protuberans
  • Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    digestiveliver 
    anti-platelet therapy or selective inhibition of PDGFB might reduce biliary fibrosis in patients with liver disease
    ANIMAL & CELL MODELS
  • transgenic mice in which Pdgf-B was over-expressed, exhibited enhanced apoptosis in the developing corpus striatum, and in retinal progenitors results in abnormal retinal vessel formation