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

Gene ID: 5156, updated on 19-Jul-2014
Official Symbol
PDGFRAprovided by HGNC
Official Full Name
platelet-derived growth factor receptor, alpha polypeptideprovided by HGNC
Primary source
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
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]
See PDGFRA in Epigenomics, MapViewer
Location:
4q12
Exon count :
27
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 LOC339978 Neighboring gene v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Gastrointestinal Stromal Tumors
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
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
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Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
Fc-epsilon receptor signaling pathway TAS
Traceable Author Statement
more info
 
Leydig cell differentiation IEA
Inferred from Electronic Annotation
more info
 
adrenal gland development IEA
Inferred from Electronic Annotation
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 amino acid stimulus IEA
Inferred from Electronic Annotation
more info
 
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
 
epidermal growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
estrogen metabolic process IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix organization IEA
Inferred from Electronic Annotation
more info
 
face morphogenesis IEA
Inferred from Electronic Annotation
more info
 
fibroblast growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
innate immune response TAS
Traceable Author Statement
more info
 
lung development IEA
Inferred from Electronic Annotation
more info
 
luteinization ISS
Inferred from Sequence or Structural Similarity
more info
 
male genitalia development IEA
Inferred from Electronic Annotation
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 
neurotrophin TRK receptor signaling pathway TAS
Traceable Author Statement
more info
 
odontogenesis of dentin-containing tooth IEA
Inferred from Electronic Annotation
more info
 
palate development IEA
Inferred from Electronic Annotation
more info
 
peptidyl-tyrosine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
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 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
 
retina vasculature development in camera-type eye ISS
Inferred from Sequence or Structural Similarity
more info
 
signal transduction involved in regulation of gene expression IEA
Inferred from Electronic Annotation
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
 
external side of plasma membrane IEA
Inferred from Electronic Annotation
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
 
Preferred Names
platelet-derived growth factor receptor alpha
Names
platelet-derived growth factor receptor alpha
PDGF-R-alpha
CD140a antigen
PDGFRA/BCR fusion
CD140 antigen-like family member A
platelet-derived growth factor receptor 2
alpha-type platelet-derived growth factor receptor
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 

    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 proteins identical to 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 (7) summary
    cd04972
    Location:415497
    Blast Score: 251
    Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC
    cd05859
    Location:313413
    Blast Score: 494
    Ig4_PDGFR-alpha; Fourth immunoglobulin (Ig)-like domain of platelet-derived growth factor receptor (PDGFR) alpha
    cd05861
    Location:228311
    Blast Score: 376
    Ig1_PDGFR-alphabeta; Frst immunoglobulin (Ig)-like domain of platelet-derived growth factor (PDGF) receptors (R), alpha (CD140a), and beta (CD140b)
    cd05105
    Location:555956
    Blast Score: 2291
    PTKc_PDGFR_alpha; Catalytic domain of the Protein Tyrosine Kinase, Platelet Derived Growth Factor Receptor alpha
    smart00408
    Location:227293
    Blast Score: 96
    IGc2; Immunoglobulin C-2 Type
    pfam07714
    Location:593953
    Blast Score: 985
    Pkinase_Tyr; Protein tyrosine kinase
    pfam13927
    Location:28104
    Blast Score: 90
    Ig_3; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000004.12 

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

mRNA and Protein(s)

  1. XM_006714039.1XP_006714102.1  

    Conserved Domains (7) summary
    cd04972
    Location:440522
    Blast Score: 252
    Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC
    cd05859
    Location:338438
    Blast Score: 495
    Ig4_PDGFR-alpha; Fourth immunoglobulin (Ig)-like domain of platelet-derived growth factor receptor (PDGFR) alpha
    cd05861
    Location:253336
    Blast Score: 378
    Ig1_PDGFR-alphabeta; Frst immunoglobulin (Ig)-like domain of platelet-derived growth factor (PDGF) receptors (R), alpha (CD140a), and beta (CD140b)
    cd05105
    Location:580981
    Blast Score: 2291
    PTKc_PDGFR_alpha; Catalytic domain of the Protein Tyrosine Kinase, Platelet Derived Growth Factor Receptor alpha
    smart00408
    Location:252318
    Blast Score: 97
    IGc2; Immunoglobulin C-2 Type
    pfam07714
    Location:618978
    Blast Score: 984
    Pkinase_Tyr; Protein tyrosine kinase
    pfam13927
    Location:53129
    Blast Score: 90
    Ig_3; Immunoglobulin domain
  2. XM_006714041.1XP_006714104.1  

    Conserved Domains (6) summary
    cd04972
    Location:440522
    Blast Score: 249
    Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC
    cd05859
    Location:338438
    Blast Score: 493
    Ig4_PDGFR-alpha; Fourth immunoglobulin (Ig)-like domain of platelet-derived growth factor receptor (PDGFR) alpha
    cd05861
    Location:253336
    Blast Score: 375
    Ig1_PDGFR-alphabeta; Frst immunoglobulin (Ig)-like domain of platelet-derived growth factor (PDGF) receptors (R), alpha (CD140a), and beta (CD140b)
    smart00408
    Location:252318
    Blast Score: 97
    IGc2; Immunoglobulin C-2 Type
    pfam13927
    Location:53129
    Blast Score: 89
    Ig_3; Immunoglobulin domain
    cl09925
    Location:580797
    Blast Score: 1263
    PKc_like; Protein Kinases, catalytic domain
  3. XM_006714040.1XP_006714103.1  

    Conserved Domains (7) summary
    cd04972
    Location:437519
    Blast Score: 252
    Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC
    cd05859
    Location:335435
    Blast Score: 495
    Ig4_PDGFR-alpha; Fourth immunoglobulin (Ig)-like domain of platelet-derived growth factor receptor (PDGFR) alpha
    cd05861
    Location:250333
    Blast Score: 378
    Ig1_PDGFR-alphabeta; Frst immunoglobulin (Ig)-like domain of platelet-derived growth factor (PDGF) receptors (R), alpha (CD140a), and beta (CD140b)
    cd05105
    Location:577978
    Blast Score: 2291
    PTKc_PDGFR_alpha; Catalytic domain of the Protein Tyrosine Kinase, Platelet Derived Growth Factor Receptor alpha
    smart00408
    Location:249315
    Blast Score: 97
    IGc2; Immunoglobulin C-2 Type
    pfam07714
    Location:615975
    Blast Score: 985
    Pkinase_Tyr; Protein tyrosine kinase
    pfam13927
    Location:50126
    Blast Score: 90
    Ig_3; Immunoglobulin domain
  4. XM_005265743.1XP_005265800.1  

    See proteins identical to XP_005265800.1

    UniProtKB/Swiss-Prot
    P16234
    Conserved Domains (7) summary
    cd04972
    Location:415497
    Blast Score: 251
    Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC
    cd05859
    Location:313413
    Blast Score: 494
    Ig4_PDGFR-alpha; Fourth immunoglobulin (Ig)-like domain of platelet-derived growth factor receptor (PDGFR) alpha
    cd05861
    Location:228311
    Blast Score: 376
    Ig1_PDGFR-alphabeta; Frst immunoglobulin (Ig)-like domain of platelet-derived growth factor (PDGF) receptors (R), alpha (CD140a), and beta (CD140b)
    cd05105
    Location:555956
    Blast Score: 2291
    PTKc_PDGFR_alpha; Catalytic domain of the Protein Tyrosine Kinase, Platelet Derived Growth Factor Receptor alpha
    smart00408
    Location:227293
    Blast Score: 96
    IGc2; Immunoglobulin C-2 Type
    pfam07714
    Location:593953
    Blast Score: 985
    Pkinase_Tyr; Protein tyrosine kinase
    pfam13927
    Location:28104
    Blast Score: 90
    Ig_3; Immunoglobulin domain

Alternate HuRef

Genomic

  1. AC_000136.1 

    Range
    51043324..51112555
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 

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

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