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FLASH GENE
Symbol PDGFRA contributors: mct/pgu - updated : 30-11-2017
HGNC name platelet-derived growth factor receptor, alpha polypeptide
HGNC id 8803
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
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    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
  • is crucial for controlling the production of oligodendrocytes (OLs) for myelination
  • PDGFRA targets progenitor cell plasticity as a profibrotic mechanism
  • PDGFRA signaling promotes lung alveolar septation by regulating fibroblast activation and matrix fibroblast differentiation, whereas myofibroblast differentiation was largely PDGFRA independent
  • PDGFRA may be a relevant target to regulate connective tissue remodeling
  • importance of balancing stromal versus adipogenic cell expansion during white adipose tissue development, with PDGFRA activity coordinating this crucial process in the embryo
  • constitutive activation of PDGFRA leads to expansion of cartilage underlying the coronal sutures, which contribute to suture closure through endochondral ossification, in a process regulated in part by PI3K/AKT signaling
    • 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
  • JAK2 is a mediator of FIP1L1-PDGFRA-induced eosinophil growth and function in chronic eosinophilic leukemia (CEL)
  • PHF14 acts as a negative regulator of PDGFRA expression in mesenchymal cells
  • HOXC6 play an important role in several cellular events through the regulation of its functional biological targets such as BMP7, FGFR2, and PDGFRA
  • FREM1 binds to PDGFC and this interaction regulates signalling downstream of PDGFRA
  • NKX2-2 can directly bind to the promoter of platelet-derived growth factor receptor alpha (PDGFRA) and repress its gene expression
  • sulfatide accumulation significantly impacts the formation of oligodendrocytes (OLs) via deregulation of PDGFRA function
  • PDGFRA signaling up-regulates MTOR signaling and ribosome biogenesis pathways and perturbs the expression of a network of epigenetically imprinted genes that have been implicated in cell growth and tissue homeostasis
  • PDGFA/PDGFRA signalling as a tissue-autonomous regulator of contact inhibition of locomotion (CIL) by controlling N-cadherin upregulation during epithelial-to-mesenchymal transition (EMT)
  • is a cell-surface receptor tyrosine kinase for platelet-derived growth factors
    • 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 half of 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
    constitutional     --over  
    dysregulated PDGFRA expression could cause orofacial cleft, spina bifida and omphalocele
    Susceptibility
  • to neural tube defects
  • to primitive neurectodermal tumours and ependymomas
  • to variation of corneal curvature
  • to isolated cleft palate (CP)
    • 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
  • single base-pair substitutions in the PDGFRA in patients with CP (8.8p100)
    • Candidate gene
    Marker
  • PDGFRA immunopositivity reflects PDGFRA mutational status and is associated with a favorable outcome in gastrointestinal stromal tumors
  • PDGFRA may serve as a candidate prognostic marker for HCC (hepatocellular carcinoma)
    • 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
    cancerdigestiveliver
    PDGFRA may serve as a novel therapeutic target for HCC
    cancerreproductivebreast
    PDGFRA, HSD17B4 and HMGB2 are potential therapeutic targets in polycystic ovarian syndrome and breast cancer
    ANIMAL & CELL MODELS
  • deletion of Pdgfra at different embryonic days (between E7.5 and E10.5) resulted in orofacial cleft, spina bifida, rib cage deformities, and omphalocele
  • increased Pdgfra activity causes adipose tissue fibrosis in adult mice