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    PDGFRA platelet derived growth factor receptor alpha [ Homo sapiens (human) ]

    Gene ID: 5156, updated on 3-Jul-2016
    Official Symbol
    PDGFRAprovided by HGNC
    Official Full Name
    platelet derived growth factor receptor alphaprovided by HGNC
    Primary source
    HGNC:HGNC:8803
    See related
    Ensembl:ENSG00000134853 HPRD:01429; MIM:173490; Vega:OTTHUMG00000128699
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GAS9; CD140A; PDGFR2; PDGFR-2; RHEPDGFRA
    Summary
    This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Studies suggest that this gene plays a role in organ development, wound healing, and tumor progression. Mutations in this gene have been associated with idiopathic hypereosinophilic syndrome, somatic and familial gastrointestinal stromal tumors, and a variety of other cancers. [provided by RefSeq, Mar 2012]
    Orthologs
    Location:
    4q12
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (54229097..54298245)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (55095264..55164412)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene GS homeobox 2 Neighboring gene ribosomal protein L22 pseudogene 13 Neighboring gene uncharacterized LOC105377656 Neighboring gene uncharacterized LOC339978

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Gastrointestinal stromal tumor
    MedGen: C0238198 OMIM: 606764 GeneReviews: Not available
    Compare labs
    Idiopathic hypereosinophilic syndrome
    MedGen: C0206141 OMIM: 607685 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study for corneal curvature identifies the platelet-derived growth factor receptor α gene as a quantitative trait locus for eye size in white Europeans.
    NHGRI GWA Catalog
    Association of variants in FRAP1 and PDGFRA with corneal curvature in Asian populations from Singapore.
    NHGRI GWA Catalog
    CMPK1 and RBP3 are associated with corneal curvature in Asian populations.
    NHGRI GWA Catalog
    Common variants in the GDF5-UQCC region are associated with variation in human height.
    NHGRI GWA Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    NHGRI GWA Catalog
    Genome-wide meta-analysis of five Asian cohorts identifies PDGFRA as a susceptibility locus for corneal astigmatism.
    NHGRI GWA Catalog
    Identification of a variant in KDR associated with serum VEGFR2 and pharmacodynamics of pazopanib.
    NHGRI GWA Catalog
    Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.
    NHGRI GWA Catalog
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      Regulation of actin cytoskeleton
    • Role of LAT2/NTAL/LAB on calcium mobilization, organism-specific biosystem (from REACTOME)
      Role of LAT2/NTAL/LAB on calcium mobilization, organism-specific biosystemThe lipid raft resident adaptor molecules LAT1 and Non-T cell activation linker (NTAL), also known as linker for activation of B cells (LAB)/LAT2 are known participants in the regulation of mast cell...
    • SHC1 events in EGFR signaling, organism-specific biosystem (from REACTOME)
      SHC1 events in EGFR signaling, organism-specific biosystemGRB2 can bind EGFR directly or through another SH2-containing protein, SHC1. This association leads to RAS activation.
    • SHC1 events in ERBB4 signaling, organism-specific biosystem (from REACTOME)
      SHC1 events in ERBB4 signaling, organism-specific biosystemAll splicing isoforms of ERBB4 possess two tyrosine residues in the C-tail that serve as docking sites for SHC1 (Kaushansky et al. 2008, Pinkas-Kramarski et al. 1996, Cohen et al. 1996). Once bound t...
    • SOS-mediated signalling, organism-specific biosystem (from REACTOME)
      SOS-mediated signalling, organism-specific biosystemSOS is recruited to the plasma membrane and mediates activation of Ras.
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling Pathways in Glioblastoma, organism-specific biosystem (from WikiPathways)
      Signaling Pathways in Glioblastoma, organism-specific biosystemThe most frequently altered genes in glioblastoma. This pathway originally accompanied the 2008 Nature publication on the comprehensive genomic characterization of human glioblastoma genes and core p...
    • Signaling by EGFR, organism-specific biosystem (from REACTOME)
      Signaling by EGFR, organism-specific biosystemThe epidermal growth factor receptor (EGFR) is one member of the ERBB family of transmembrane glycoprotein tyrosine receptor kinases (RTK). Binding of EGFR to its ligands induces conformational chang...
    • Signaling by ERBB4, organism-specific biosystem (from REACTOME)
      Signaling by ERBB4, organism-specific biosystemERBB4, also known as HER4, belongs to the ERBB family of receptors, which also includes ERBB1 (EGFR i.e. HER1), ERBB2 (HER2 i.e. NEU) and ERBB3 (HER3). Similar to EGFR, ERBB4 has an extracellular lig...
    • Signaling by FGFR, organism-specific biosystem (from REACTOME)
      Signaling by FGFR, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
    • Signaling by FGFR1, organism-specific biosystem (from REACTOME)
      Signaling by FGFR1, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
    • Signaling by FGFR2, organism-specific biosystem (from REACTOME)
      Signaling by FGFR2, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
    • Signaling by FGFR3, organism-specific biosystem (from REACTOME)
      Signaling by FGFR3, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
    • Signaling by FGFR4, organism-specific biosystem (from REACTOME)
      Signaling by FGFR4, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
      Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
    • Signaling by Insulin receptor, organism-specific biosystem (from REACTOME)
      Signaling by Insulin receptor, organism-specific biosystemInsulin binding to its receptor results in receptor autophosphorylation on tyrosine residues and the tyrosine phosphorylation of insulin receptor substrates (e.g. IRS and Shc) by the insulin receptor...
    • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
      Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
    • Signaling by Leptin, organism-specific biosystem (from REACTOME)
      Signaling by Leptin, organism-specific biosystemLeptin (LEP, OB, OBS), a circulating adipokine, and its receptor LEPR (DB, OBR) control food intake and energy balance and are implicated in obesity-related diseases (recently reviewed in Amitani et ...
    • Signaling by PDGF, organism-specific biosystem (from REACTOME)
      Signaling by PDGF, organism-specific biosystemPlatelet-derived Growth Factor (PDGF) is a potent stimulator of growth and motility of connective tissue cells such as fibroblasts and smooth muscle cells as well as other cells such as capillary end...
    • Signaling by SCF-KIT, organism-specific biosystem (from REACTOME)
      Signaling by SCF-KIT, organism-specific biosystemStem cell factor (SCF) is a growth factor with membrane bound and soluble forms. It is expressed by fibroblasts and endothelial cells throughout the body, promoting proliferation, migration, survival...
    • Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), organism-specific biosystem (from REACTOME)
      Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), organism-specific biosystemBinding of IGF1 (IGF-I) or IGF2 (IGF-II) to the extracellular alpha peptides of the type 1 insulin-like growth factor receptor (IGF1R) triggers the activation of two major signaling pathways: the SOS...
    • Signaling by VEGF, organism-specific biosystem (from REACTOME)
      Signaling by VEGF, organism-specific biosystemIn normal development vascular endothelial growth factors (VEGFs) are crucial regulators of vascular development during embryogenesis (vasculogenesis) and blood-vessel formation in the adult (angioge...
    • Signaling by the B Cell Receptor (BCR), organism-specific biosystem (from REACTOME)
      Signaling by the B Cell Receptor (BCR), organism-specific biosystemMature B cells express IgM and IgD immunoglobulins which are complexed at the plasma membrane with Ig-alpha (CD79A, MB-1) and Ig-beta (CD79B, B29) to form the B cell receptor (BCR) (Fu et al. 1974, F...
    • Signalling by NGF, organism-specific biosystem (from REACTOME)
      Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
    • Signalling to ERKs, organism-specific biosystem (from REACTOME)
      Signalling to ERKs, organism-specific biosystemNeurotrophins utilize multiple pathways to activate ERKs (ERK1 and ERK2), a subgroup of the large MAP kinase (MAPK) family, from the plasma membrane. The major signalling pathways to ERKs are via RAS...
    • Signalling to RAS, organism-specific biosystem (from REACTOME)
      Signalling to RAS, organism-specific biosystemSignalling through Shc adaptor proteins appears to be identical for both NGF and EGF. It leads to a fast, but transient, MAPK/ERK activation, which is insufficient to explain the prolonged activation...
    • Signalling to p38 via RIT and RIN, organism-specific biosystem (from REACTOME)
      Signalling to p38 via RIT and RIN, organism-specific biosystemRIT and RIN are two small guanine nucleotide binding proteins that share more than 50% sequence identity with RAS, including highly conserved core effector domains. Unlike RAS, the C termini of RIT a...
    • VEGFA-VEGFR2 Pathway, organism-specific biosystem (from REACTOME)
      VEGFA-VEGFR2 Pathway, organism-specific biosystemAngiogenesis is the formation of new blood vessels from preexisting vasculature. One of the most important proangiogenic factors is vascular endothelial growth factor (VEGF). VEGF exerts its biologic...
    • VEGFR2 mediated cell proliferation, organism-specific biosystem (from REACTOME)
      VEGFR2 mediated cell proliferation, organism-specific biosystemVEGFR2 stimulates ERK not via GRB2-SOS-RAS, but via pY1175-dependent phosphorylation of PLC gamma and subsequent activation of PKCs. PKC plays an important mediatory role in the proliferative Ras/Raf...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC74795

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    MAPK cascade TAS
    Traceable Author Statement
    more info
     
    cardiac myofibril assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell activation TAS
    Traceable Author Statement
    more info
    PubMed 
    cell chemotaxis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to reactive oxygen species IDA
    Inferred from Direct Assay
    more info
    PubMed 
    embryonic cranial skeleton morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    embryonic digestive tract morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    embryonic skeletal system morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    luteinization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    metanephric glomerular capillary formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of platelet activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptidyl-tyrosine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphatidylinositol phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylinositol-mediated signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    phosphatidylinositol-mediated signaling TAS
    Traceable Author Statement
    more info
     
    platelet aggregation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    platelet-derived growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    platelet-derived growth factor receptor-alpha signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of DNA replication IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of ERK1 and ERK2 cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cytosolic calcium ion concentration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of fibroblast proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of phosphatidylinositol 3-kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of phosphatidylinositol 3-kinase signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of phospholipase C activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of actin cytoskeleton reorganization TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of chemotaxis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of mesenchymal stem cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of phosphatidylinositol 3-kinase signaling TAS
    Traceable Author Statement
    more info
     
    retina vasculature development in camera-type eye ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    viral process IEA
    Inferred from Electronic Annotation
    more info
     
    wound healing ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intrinsic component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    platelet-derived growth factor receptor alpha
    Names
    CD140 antigen-like family member A
    CD140a antigen
    PDGF-R-alpha
    PDGFRA/BCR fusion
    alpha-type platelet-derived growth factor receptor
    platelet-derived growth factor receptor 2
    platelet-derived growth factor receptor, alpha polypeptide
    rearranged-in-hypereosinophilia-platelet derived growth factor receptor alpha fusion protein
    NP_006197.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009250.1 RefSeqGene

      Range
      5001..74149
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_309

    mRNA and Protein(s)

    1. NM_006206.4NP_006197.1  platelet-derived growth factor receptor alpha precursor

      See identical proteins and their annotated locations for NP_006197.1

      Status: REVIEWED

      Source sequence(s)
      AC098587, DA678599, M21574
      Consensus CDS
      CCDS3495.1
      UniProtKB/Swiss-Prot
      P16234
      Related
      ENSP00000257290, OTTHUMP00000158882, ENST00000257290, OTTHUMT00000250598
      Conserved Domains (6) summary
      cd04972
      Location:415497
      Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC
      cd05859
      Location:313413
      Ig4_PDGFR-alpha; Fourth immunoglobulin (Ig)-like domain of platelet-derived growth factor receptor (PDGFR) alpha
      cd05861
      Location:228311
      Ig1_PDGFR-alphabeta; Frst immunoglobulin (Ig)-like domain of platelet-derived growth factor (PDGF) receptors (R), alpha (CD140a), and beta (CD140b)
      cd05105
      Location:555956
      PTKc_PDGFR_alpha; Catalytic domain of the Protein Tyrosine Kinase, Platelet Derived Growth Factor Receptor alpha
      smart00408
      Location:227293
      IGc2; Immunoglobulin C-2 Type
      pfam07714
      Location:593953
      Pkinase_Tyr; Protein tyrosine kinase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

      Range
      54229097..54298245
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006714041.3XP_006714104.1  

      Conserved Domains (6) summary
      cd04972
      Location:440522
      Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC
      cd05859
      Location:338438
      Ig4_PDGFR-alpha; Fourth immunoglobulin (Ig)-like domain of platelet-derived growth factor receptor (PDGFR) alpha
      cd05861
      Location:253336
      Ig1_PDGFR-alphabeta; Frst immunoglobulin (Ig)-like domain of platelet-derived growth factor (PDGF) receptors (R), alpha (CD140a), and beta (CD140b)
      smart00408
      Location:252318
      IGc2; Immunoglobulin C-2 Type
      pfam13927
      Location:53129
      Ig_3; Immunoglobulin domain
      cl21453
      Location:580797
      PKc_like; Protein Kinases, catalytic domain
    2. XM_006714039.3XP_006714102.1  

      Conserved Domains (6) summary
      cd04972
      Location:440522
      Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC
      cd05859
      Location:338438
      Ig4_PDGFR-alpha; Fourth immunoglobulin (Ig)-like domain of platelet-derived growth factor receptor (PDGFR) alpha
      cd05861
      Location:253336
      Ig1_PDGFR-alphabeta; Frst immunoglobulin (Ig)-like domain of platelet-derived growth factor (PDGF) receptors (R), alpha (CD140a), and beta (CD140b)
      cd05105
      Location:580981
      PTKc_PDGFR_alpha; Catalytic domain of the Protein Tyrosine Kinase, Platelet Derived Growth Factor Receptor alpha
      smart00408
      Location:252318
      IGc2; Immunoglobulin C-2 Type
      pfam07714
      Location:618978
      Pkinase_Tyr; Protein tyrosine kinase
    3. XM_017008282.1XP_016863771.1  

      Related
      ENSP00000424218, OTTHUMP00000218656, ENST00000509490, OTTHUMT00000361564
    4. XM_005265743.1XP_005265800.1  

      See identical proteins and their annotated locations for XP_005265800.1

      UniProtKB/Swiss-Prot
      P16234
      Conserved Domains (6) summary
      cd04972
      Location:415497
      Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC
      cd05859
      Location:313413
      Ig4_PDGFR-alpha; Fourth immunoglobulin (Ig)-like domain of platelet-derived growth factor receptor (PDGFR) alpha
      cd05861
      Location:228311
      Ig1_PDGFR-alphabeta; Frst immunoglobulin (Ig)-like domain of platelet-derived growth factor (PDGF) receptors (R), alpha (CD140a), and beta (CD140b)
      cd05105
      Location:555956
      PTKc_PDGFR_alpha; Catalytic domain of the Protein Tyrosine Kinase, Platelet Derived Growth Factor Receptor alpha
      smart00408
      Location:227293
      IGc2; Immunoglobulin C-2 Type
      pfam07714
      Location:593953
      Pkinase_Tyr; Protein tyrosine kinase
    5. XM_011534385.2XP_011532687.1  

      See identical proteins and their annotated locations for XP_011532687.1

      UniProtKB/Swiss-Prot
      P16234
      Conserved Domains (6) summary
      cd04972
      Location:415497
      Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC
      cd05859
      Location:313413
      Ig4_PDGFR-alpha; Fourth immunoglobulin (Ig)-like domain of platelet-derived growth factor receptor (PDGFR) alpha
      cd05861
      Location:228311
      Ig1_PDGFR-alphabeta; Frst immunoglobulin (Ig)-like domain of platelet-derived growth factor (PDGF) receptors (R), alpha (CD140a), and beta (CD140b)
      cd05105
      Location:555956
      PTKc_PDGFR_alpha; Catalytic domain of the Protein Tyrosine Kinase, Platelet Derived Growth Factor Receptor alpha
      smart00408
      Location:227293
      IGc2; Immunoglobulin C-2 Type
      pfam07714
      Location:593953
      Pkinase_Tyr; Protein tyrosine kinase
    6. XM_017008281.1XP_016863770.1  

    7. XM_017008280.1XP_016863769.1  

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      55130846..55199987
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)