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

Gene ID: 5156, updated on 5-Aug-2022

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; AllianceGenome:HGNC:8803
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
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Genomic context

See PDGFRA in Genome Data Viewer
Location:
4q12
Exon count:
30
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (54229293..54298245)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (57718046..57786996)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (55095460..55164412)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U3 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
Idiopathic hypereosinophilic syndrome
MedGen: C0206141 OMIM: 607685 GeneReviews: Not available
Compare labs
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
MedGen: C5193005 OMIM: 175510 GeneReviews: Not available
Compare labs

EBI 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.
EBI GWAS Catalog
Association of variants in FRAP1 and PDGFRA with corneal curvature in Asian populations from Singapore.
EBI GWAS Catalog
CMPK1 and RBP3 are associated with corneal curvature in Asian populations.
EBI GWAS Catalog
Common variants in the GDF5-UQCC region are associated with variation in human height.
EBI GWAS Catalog
Genome-wide association study of hematological and biochemical traits in a Japanese population.
EBI GWAS Catalog
Genome-wide meta-analysis of five Asian cohorts identifies PDGFRA as a susceptibility locus for corneal astigmatism.
EBI GWAS Catalog
Identification of a variant in KDR associated with serum VEGFR2 and pharmacodynamics of pazopanib.
EBI GWAS Catalog
Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.
EBI GWAS Catalog

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 BBSome 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 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 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
XP_047271722.1
XP_047271723.1

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, Q9UD28
    Conserved Domains (4) summary
    cd05105
    Location:555956
    PTKc_PDGFR_alpha; Catalytic domain of the Protein Tyrosine Kinase, Platelet Derived Growth Factor Receptor alpha
    pfam13927
    Location:28100
    Ig_3; Immunoglobulin domain
    cd05859
    Location:313413
    Ig4_PDGFR; Fourth immunoglobulin (Ig)-like domain of platelet-derived growth factor receptor (PDGFR)
    cd05861
    Location:212310
    IgI_PDGFR-alphabeta; Immunoglobulin (Ig)-like domain of platelet-derived growth factor (PDGF) receptors (R), alpha and beta; member of the I-set of IgSF domains
  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, Q9UD28
    Related
    ENSP00000257290.5, ENST00000257290.10
    Conserved Domains (4) summary
    cd05105
    Location:555956
    PTKc_PDGFR_alpha; Catalytic domain of the Protein Tyrosine Kinase, Platelet Derived Growth Factor Receptor alpha
    pfam13927
    Location:28100
    Ig_3; Immunoglobulin domain
    cd05859
    Location:313413
    Ig4_PDGFR; Fourth immunoglobulin (Ig)-like domain of platelet-derived growth factor receptor (PDGFR)
    cd05861
    Location:212310
    IgI_PDGFR-alphabeta; Immunoglobulin (Ig)-like domain of platelet-derived growth factor (PDGF) receptors (R), alpha and beta; member of the I-set of IgSF domains

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    54229293..54298245
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714041.4XP_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_005265743.2XP_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, Q9UD28
    Conserved Domains (4) summary
    cd05105
    Location:555956
    PTKc_PDGFR_alpha; Catalytic domain of the Protein Tyrosine Kinase, Platelet Derived Growth Factor Receptor alpha
    pfam13927
    Location:28100
    Ig_3; Immunoglobulin domain
    cd05859
    Location:313413
    Ig4_PDGFR; Fourth immunoglobulin (Ig)-like domain of platelet-derived growth factor receptor (PDGFR)
    cd05861
    Location:212310
    IgI_PDGFR-alphabeta; Immunoglobulin (Ig)-like domain of platelet-derived growth factor (PDGF) receptors (R), alpha and beta; member of the I-set of IgSF domains
  3. XM_047415767.1XP_047271723.1  platelet-derived growth factor receptor alpha isoform X1

    UniProtKB/Swiss-Prot
    Q9UD28
  4. XM_047415766.1XP_047271722.1  platelet-derived growth factor receptor alpha isoform X1

    UniProtKB/Swiss-Prot
    Q9UD28
  5. XM_017008281.2XP_016863770.1  platelet-derived growth factor receptor alpha isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    57718046..57786996
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)