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

    Gene ID: 5156, updated on 26-Jul-2021

    Summary

    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 MIM:173490
    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
    CD140A; PDGFR2; PDGFR-2
    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]
    Expression
    Ubiquitous expression in ovary (RPKM 74.4), brain (RPKM 24.8) and 20 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PDGFRA in Genome Data Viewer
    Location:
    4q12
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (54229127..54298245)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (55095460..55164412)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene GS homeobox 2 Neighboring gene ribosomal protein L22 pseudogene 13 Neighboring gene long intergenic non-protein coding RNA 2283 Neighboring gene CRISPRi-validated cis-regulatory element chr4.1578

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    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.
    GeneReviews: Not available
    Association of variants in FRAP1 and PDGFRA with corneal curvature in Asian populations from Singapore.
    GeneReviews: Not available
    CMPK1 and RBP3 are associated with corneal curvature in Asian populations.
    GeneReviews: Not available
    Common variants in the GDF5-UQCC region are associated with variation in human height.
    GeneReviews: Not available
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    GeneReviews: Not available
    Genome-wide meta-analysis of five Asian cohorts identifies PDGFRA as a susceptibility locus for corneal astigmatism.
    GeneReviews: Not available
    Identification of a variant in KDR associated with serum VEGFR2 and pharmacodynamics of pazopanib.
    GeneReviews: Not available
    Idiopathic hypereosinophilic syndrome
    MedGen: C0206141 OMIM: 607685 GeneReviews: Not available
    Compare labs
    Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.
    GeneReviews: Not available
    Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
    MedGen: C5193005 OMIM: 175510 GeneReviews: Not available
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC74795

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables growth factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables platelet-derived growth factor alpha-receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables platelet-derived growth factor alpha-receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables platelet-derived growth factor alpha-receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables platelet-derived growth factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables platelet-derived growth factor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables platelet-derived growth factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables platelet-derived growth factor receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables transmembrane receptor protein tyrosine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables transmembrane receptor protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables vascular endothelial growth factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables vascular endothelial growth factor-activated receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Leydig cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in adrenal gland development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac myofibril assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell activation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cell chemotaxis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to amino acid stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within cellular response to reactive oxygen species IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in embryonic cranial skeleton morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in embryonic cranial skeleton morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in embryonic digestive tract morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in embryonic skeletal system morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in estrogen metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in extracellular matrix organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in face morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hematopoietic progenitor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lung development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in luteinization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in male genitalia development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in metanephric glomerular capillary formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in multicellular organism development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of platelet activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in odontogenesis of dentin-containing tooth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in peptidyl-tyrosine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in phosphatidylinositol-mediated signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in platelet aggregation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in platelet-derived growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in platelet-derived growth factor receptor-alpha signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of ERK1 and ERK2 cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cytosolic calcium ion concentration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of fibroblast proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of phosphatidylinositol 3-kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of phosphatidylinositol 3-kinase signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of phospholipase C activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of actin cytoskeleton reorganization TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of chemotaxis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of mesenchymal stem cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in retina vasculature development in camera-type eye ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in roof of mouth development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction involved in regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transmembrane receptor protein tyrosine kinase signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in white fat cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in wound healing ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
     
    located_in cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in external side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intrinsic component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane HDA PubMed 
    located_in microvillus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    platelet-derived growth factor receptor alpha
    Names
    CD140 antigen-like family member A
    CD140a antigen
    PDGF-R-alpha
    alpha-type platelet-derived growth factor receptor
    platelet-derived growth factor receptor 2
    platelet-derived growth factor receptor, alpha polypeptide
    NP_001334756.1
    NP_001334757.1
    NP_001334758.1
    NP_001334759.1
    NP_006197.1
    XP_005265800.1
    XP_006714104.1
    XP_016863770.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001347827.2NP_001334756.1  platelet-derived growth factor receptor alpha isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes an alternate 3' terminal exon, which results in a frameshift and an early stop codon compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC098587, AC138779, BU737962
      Related
      ENSP00000424218.1, ENST00000509490.5
    2. NM_001347828.2NP_001334757.1  platelet-derived growth factor receptor alpha isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains a novel 5' UTR and 5' coding region compared to variant 1. The encoded isoform (3) is longer, has a distinct N-terminus and lacks a predicted signal peptide compared to isoform 1.
      Source sequence(s)
      AC098587, AC138779, FN174599
    3. NM_001347829.2NP_001334758.1  platelet-derived growth factor receptor alpha isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Both variants 1 and 5 encode the same isoform (1).
      Source sequence(s)
      AC098587, AC138779, FN174599
      Consensus CDS
      CCDS3495.1
      UniProtKB/Swiss-Prot
      P16234
    4. NM_001347830.2NP_001334759.1  platelet-derived growth factor receptor alpha isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains a novel 5' UTR and 5' coding region compared to variant 1. The encoded isoform (3) is longer, has a distinct N-terminus and lacks a predicted signal peptide compared to isoform 1.
      Source sequence(s)
      AC098587, AC138779, FN174599
    5. NM_006206.6NP_006197.1  platelet-derived growth factor receptor alpha isoform 1 precursor

      See identical proteins and their annotated locations for NP_006197.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC098587, DA678599, FN174599, M21574
      Consensus CDS
      CCDS3495.1
      UniProtKB/Swiss-Prot
      P16234
      Related
      ENSP00000257290.5, ENST00000257290.10
      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
      smart00409
      Location:223293
      IG; Immunoglobulin
      pfam07714
      Location:593953
      Pkinase_Tyr; Protein tyrosine kinase

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

      Range
      54229127..54298245
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006714041.3XP_006714104.1  platelet-derived growth factor receptor alpha isoform X2

      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)
      smart00410
      Location:248318
      IG_like; Immunoglobulin like
      cl11960
      Location:63137
      Ig; Immunoglobulin domain
      cl21453
      Location:580797
      PKc_like; Protein Kinases, catalytic domain
    2. XM_005265743.1XP_005265800.1  platelet-derived growth factor receptor alpha isoform X1

      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
      smart00409
      Location:223293
      IG; Immunoglobulin
      pfam07714
      Location:593953
      Pkinase_Tyr; Protein tyrosine kinase
    3. XM_017008281.1XP_016863770.1  platelet-derived growth factor receptor alpha isoform X3

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