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FLASH GENE
Symbol PDGFRA contributors: mct/pgu - updated : 18-04-2011
HGNC name platelet-derived growth factor receptor, alpha polypeptide
HGNC id 8803
Corresponding disease
HES1 idiopathic hypereosinophilic syndrome 1
TAPVR1 total anomalous pulmonary venous return, 1
Location 4q12      Physical location : 55.095.263 - 55.164.411
Synonym name
  • FIP1L1/PDGFRA fusion protein
  • rearranged-in-hypereosinophilia-platelet derived growth factor receptor
  • alpha fusion protein
  • CD140 antigen-like family member A
  • alpha-type platelet-derived growth factor receptor
  • PDGFRA/BCR fusion
  • Synonym symbol(s) CD140A, PDGFR2, MGC74795, RHEPDGFRA
    EC.number 2.7.10.1
    DNA
    TYPE like-sequence
    STRUCTURE 69.15 kb     23 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure
  • controlled by an ATTA-sequence-containing element located near the transcription initiation site, which is bound by a transcriptional complex that includes PBX and PRX homeobox transcription factors
  • translation start codon located in exon 2
  • putative E2F-binding sequences in the P1 promoter
  • MAPPING cloned Y linked N status confirmed
    Physical map
    KIAA0276 4q12 glycine dehydrogenase (decarboxylase) pseudogene LOC339977 4q12 similar to Hypothetical protein MGC38937 SGCB 4q12 sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) LOC132671 4q12 LOC132671 USP46 4q12 ubiquitin specific protease 46 KIAA0114 4q12 KIAA0114 gene product FLJ12684 4q12 hypothetical protein FLJ12684 MGC2827 4q12 hypothetical protein MGC2827 STXBP1L1 FIP1L1 4q11-q12 FIP1 like 1 (S. cerevisiae) LNX 4q12 ligand of numb-protein X LOC391653 4 hypothetical gene supported by BC057822 CHIC2 4q11-q12 cysteine-rich hydrophobic domain 2 GSH-2 4q11-q12 homeobox protein GSH-2 PDGFRA 4q11-q12 platelet-derived growth factor receptor, alpha polypeptide LOC254938 4q12 hypothetical LOC254938 KIT 4q12 v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog KDR 4q12 kinase insert domain receptor (a type III receptor tyrosine kinase) FLJ13352 4q12 hypothetical protein FLJ13352 TPARL 4q12 TPA regulated locus CLOCK 4q12 clock homolog (mouse) GCPHLP 4q12 likely ortholog of mouse germ cell-specific phosphoducin-like protein Mgcphlp NMU 4q12 neuromedin U SEC3 FLJ13621 4q12 hypothetical protein FLJ13621 KIAA0635 4q12-q13.3 hypothetical protein FLJ13621 KIAA1211 4q12 KIAA1211 protein MRPL22P1 4q12 KIAA1211 protein NRPS998 4q12 2-aminoadipic 6-semialdehyde dehydrogenase PPAT 4q12 phosphoribosyl pyrophosphate amidotransferase PAICS 4q12 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase SRP72 1q32 signal recognition particle 72kDa LOC132946 4q12 similar to MGC69138 protein LOC391654 4 LOC391654 GLDCP 4q12 glycine dehydrogenase (decarboxylase) pseudogene
    RNA
    TRANSCRIPTS type messenger
    text alternate exon1 (exon 1 and exon 1 beta)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    23 - 6574 - 1089 - 2007 17568391
    - - 363 - - - 2007 17881156
  • exon 1 beta
  • regulated by E2F1 through an E2F1-responsive site located at position + 1086/+ 1093 downstream of the transcriptional initiation site of the type I transcript
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen   highly
    Cardiovascularheart   highly
    Digestiveliver   moderately
    Endocrinepancreas   highly Homo sapiens
    Hearing/Equilibriumear   predominantly
    Nervousbrain   highly
     spinal cord    
    Reproductivemale systemprostate  moderately
    Urinarykidney   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    Muscularstriatumskeletal  
    Nervouscentral   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...) Homo sapiens
    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
  • receptor tyrosine kinase, class III, with five extracellular Ig-like motifs
  • a transmembrane segment (1TM)
  • a cytoplasmic split tyrosine kinase domain
  • mono polymer homomer , heteromer , dimer
    HOMOLOGY
    Homologene
    FAMILY
  • immunoglobulin superfamily
  • protein kinase superfamily
  • Tyr protein kinase family
  • CSF-1/PDGF receptor subfamily
  • CATEGORY signaling cytokine growth factor , receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • growth arrest specific gene (gas), subunit, receptor tyrosine kinase, class III, binding both PDGFA and PDGFB and having a tyrosine-protein kinase activity
  • implicated in several cellular processes such as cell proliferation, normal development, and tumorigenesis
  • is required for medial nasal processes (MNP) development by maintaining the migration of progenitor neural crest cells (NCCs) and the proliferation of MNP cells
  • is a novel regulator of MNP development, elucidating the roles of its downstream signaling pathways at cellular and molecular levels
  • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    receptor tyrosine kinase pathway
    a component
  • homodimerizing and heterodimerizing with PDGFRB
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP
  • protein
  • GLI (target gene of GLI)
  • binding ZNF148(disrupted in prmitive neuroectodermal tumors and ependymomas)
  • interacting with NRP1
  • regulates pancreatic beta-cell EZH2 expression and proliferation
  • cell & other
    REGULATION
    Other regulated by E2F1
    ASSOCIATED DISORDERS
    corresponding disease(s) TAPVR1 , HES1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    with BCR in t (4;22) (q12;q11) in atypical chronic myeloid leukemia
    tumoral somatic mutation     gain of function
    in gastrointestinal stromal tumors
    tumoral     --over  
    in basal cell carcinoma
    tumoral fusion deletion    
    acquired 4q12 deletion resulting in FIP1L1/PDGFRA fusion gene in about halfof the cases of idiopathic hypereosinophilic syndrome
    tumoral somatic mutation      
    in synovial sarcomas
    tumoral   amplification    
    in intimal sarcoma, which should be considered as a molecular hallmark of this entity
    tumoral   amplification    
    coamplification of PDGFRA or KDR with KIT may be clinically useful novel molecular markers in medulloblastomas and primitive neuroectodermal tumors
    tumoral   amplification    
    rearrangements are frequent genetic events in PDGFRA-amplified glioblastomas
    Susceptibility
  • to neural tube defects
  • to primitive neurectodermal tumours and ependymomas
  • to variation of corneal curvature
  • Variant & Polymorphism SNP
  • haplotype H2 delta in the promoter associated with primitive neurectodermal tumours and ependymomas
  • six single nucleotide polymorphisms (SNPs)associated with variation of corneal curvature
  • Candidate gene
    Marker
  • PDGFRA immunopositivity reflects PDGFRA mutational status and is associated with a favorable outcome in gastrointestinal stromal tumors
  • Therapy target
    SystemTypeDisorderPubmed
    cancerhemopathy 
    may represent a potential therapeutic target in thymic tumours
    cancerdigestiveliver
    targeted inhibition of PDGFRA is a rational strategy for prevention and therapy of hepatocellular carcinoma
    ANIMAL & CELL MODELS