PDGFRA platelet-derived growth factor receptor, alpha polypeptide [Homo sapiens] - Gene

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Summary

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; MGC74795
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]

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Genomic context

Location :: 4q12

Sequence :: Chromosome: 4; NC_000004.11 (55095264..55164412)

See PDGFRA in Epigenomics, MapViewer

Chromosome 4 - NC_000004.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Report protein expression and gene mutation status of PDGFRA in renal cell carcinoma.
Title: Protein expression and gene mutation status of KIT and PDGFRA in renal cell carcinoma.
majority of gene mutations were identified in exon 11 of the KIT gene or exon 18 of the PDGFRA gene. The pattern of KIT and PDGFRA mutations in EGISTs was essentially similar to the one in GISTs
Title: Diagnostic relevance of overexpressions of PKC-θ and DOG-1 and KIT/PDGFRA gene mutations in extragastrointestinal stromal tumors: a Korean six-centers study of 28 cases.
Heparan sulfate sulfatase SULF2 regulates PDGFRalpha signaling and growth in human and mouse malignant glioma
Title: Heparan sulfate sulfatase SULF2 regulates PDGFRα signaling and growth in human and mouse malignant glioma.
High expression of PDGFRA was significantly correlated with shorter patient survival and could serve as a prognostic marker.
Title: High KIT and PDGFRA are associated with shorter patients survival in gastroenteropancreatic neuroendocrine tumors, but mutations are a rare event.
PDGFRA-amplified Glioblastoma were found to have amplification of EGFR or the hepatocyte growth factor receptor gene (MET) as well.
Title: Intratumoral heterogeneity of receptor tyrosine kinases EGFR and PDGFRA amplification in glioblastoma defines subpopulations with distinct growth factor response.
amplification of PDGFRA, KIT and KDR may be implicated in the pathogenesis of a small fraction of both subtypes of glioblastoma
Title: Amplification of the PDGFRA, KIT and KDR genes in glioblastoma: a population-based study.
This highlights the potential role of variants in PDGFRA in the genetic etiology of corneal astigmatism across diverse Asian populations [meta-analysis]
Title: Genome-wide meta-analysis of five Asian cohorts identifies PDGFRA as a susceptibility locus for corneal astigmatism.
mutational status of PDGFRA gene in ipsilateral testicular seminomas
Title: Mutations and protein expression of KIT and PDGFRA genes in ipsilateral testicular seminomas: an immunohistochemical and molecular genetic study.
Treatment with imatinib is associated with an excellent prognosis in FIP1L1-PDGFRA-positive chronic eosinophilic leukemia in first chronic phase
Title: Limited clinical activity of nilotinib and sorafenib in FIP1L1-PDGFRA positive chronic eosinophilic leukemia with imatinib-resistant T674I mutation.
Case Report: rare case of esophageal small cell carcinoma with KIT and PDGFRA expressions but without KIT and PDGFRA mutations.
Title: KIT and PDGFRA in esophageal pure small cell carcinoma.

Submit: New GeneRIF Correction See all (201)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Association of variants in FRAP1 and PDGFRA with corneal curvature in Asian populations from Singapore.

Common variants in the GDF5-UQCC region are associated with variation in human height.

Gastrointestinal stromal tumor, somatic

MIM: 606764

Genome-wide association study of hematological and biochemical traits in a Japanese population.

Hypereosinophilic syndrome, idiopathic, resistant to imatinib

MIM: 607685

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Products	Interactant	Other Gene	Source	Pubs	Description
P16234	Q03135	CAV1	HPRD	PubMed
P16234	P22681	CBL	HPRD	PubMed
P16234	P46108	CRK	HPRD	PubMed
P16234	P46109	CRKL	HPRD	PubMed
P16234	Q14449	GRB14	HPRD	PubMed
P16234	P06756	ITGAV	HPRD	PubMed
P16234	P05106	ITGB3	HPRD	PubMed
P16234	P23458	JAK1	HPRD	PubMed
P16234	P04085	PDGFA	HPRD	PubMed
P16234	P01127	PDGFB	HPRD	PubMed
P16234	Platelet derived growth factor C	PDGFC	HPRD	PubMed
P16234	P16234	PDGFRA	HPRD	PubMed
P16234	P09619	PDGFRB	HPRD	PubMed
P16234	P27986	PIK3R1	HPRD	PubMed
P16234	P19174	PLCG1	HPRD	PubMed
P16234	Q06124	PTPN11	HPRD	PubMed
P16234	Q15464	SHB	HPRD	PubMed
P16234	Src homology 2 domain containing F	SHF	HPRD	PubMed
P16234	O14745	SLC9A3R1	HPRD	PubMed
P16234	O60749	SNX2	HPRD	PubMed
P16234	O95219	SNX4	HPRD	PubMed
P16234	Q9UNH7	SNX6	HPRD	PubMed
P16234	P42224	STAT1	HPRD	PubMed
P16234	P40763	STAT3	HPRD	PubMed
P16234	P42229	STAT5A	HPRD	PubMed
P16234	P51692	STAT5B	HPRD	PubMed
BioGRID:111182	BioGRID:107305	CAV1	BioGRID	PubMed	Affinity Capture-Western; Co-fractionation; Reconstituted Complex
BioGRID:111182	BioGRID:107307	CAV3	BioGRID	PubMed	Reconstituted Complex
BioGRID:111182	BioGRID:107315	CBL	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:111182	BioGRID:107788	CRK	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:111182	BioGRID:107789	CRKL	BioGRID	PubMed	Affinity Capture-Western
BioGRID:111182	BioGRID:109142	GRB2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:111182	BioGRID:109896	ITGB3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:111182	BioGRID:247522	Nedd4	BioGRID	PubMed	Biochemical Activity
BioGRID:111182	BioGRID:111180	PDGFA	BioGRID	PubMed	Reconstituted Complex
BioGRID:111182	BioGRID:111181	PDGFB	BioGRID	PubMed	Reconstituted Complex
BioGRID:111182	BioGRID:121032	PDGFC	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:111182	BioGRID:111182	PDGFRA	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity; Far Western
BioGRID:111182	BioGRID:111185	PDGFRB	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:111182	BioGRID:111351	PLCG1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:111182	BioGRID:111700	PTEN	BioGRID	PubMed	Affinity Capture-MS
BioGRID:111182	BioGRID:114769	SLC9A3R1	BioGRID	PubMed	Affinity Capture-Western; Far Western; Reconstituted Complex
BioGRID:111182	BioGRID:112526	SNX2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:111182	BioGRID:114262	SNX4	BioGRID	PubMed	Affinity Capture-Western
BioGRID:111182	BioGRID:121852	SNX6	BioGRID	PubMed	Affinity Capture-Western
BioGRID:111182	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
phosphatidylinositol 3-kinase binding	IEA Inferred from Electronic Annotation more info
platelet-derived growth factor alpha-receptor activity	IDA Inferred from Direct Assay more info	PubMed
platelet-derived growth factor alpha-receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
platelet-derived growth factor binding	IDA Inferred from Direct Assay more info	PubMed
platelet-derived growth factor binding	IPI Inferred from Physical Interaction more info	PubMed
platelet-derived growth factor receptor binding	IPI Inferred from Physical Interaction more info	PubMed
protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
protein tyrosine kinase activity	TAS Traceable Author Statement more info
receptor activity	IEA Inferred from Electronic Annotation more info
transmembrane receptor protein tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed
vascular endothelial growth factor binding	IPI Inferred from Physical Interaction more info	PubMed
vascular endothelial growth factor-activated receptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
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
elevation of cytosolic calcium ion concentration	IMP Inferred from Mutant Phenotype 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
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
female gonad development	IEA Inferred from Electronic Annotation more info
gliogenesis	IEA Inferred from Electronic Annotation more info
in utero embryonic development	IEA Inferred from Electronic Annotation more info
inner ear development	IEA Inferred from Electronic Annotation 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
multicellular organismal development	IEA Inferred from Electronic Annotation more info
negative regulation of platelet activation	IDA Inferred from Direct Assay more info	PubMed
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
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	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	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cell proliferation	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 cascade	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
response to cytokine stimulus	IEA Inferred from Electronic Annotation more info
response to estradiol stimulus	IEA Inferred from Electronic Annotation more info
response to hormone stimulus	IEA Inferred from Electronic Annotation more info
response to hyperoxia	IEA Inferred from Electronic Annotation more info
response to inorganic substance	IEA Inferred from Electronic Annotation 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
vascular endothelial growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
vascular endothelial growth factor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
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 to plasma membrane	IDA Inferred from Direct Assay more info	PubMed
intrinsic to plasma 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

General protein information

Preferred Names: platelet-derived growth factor receptor alpha

Names: platelet-derived growth factor receptor alpha; PDGFR-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

EC 2.7.10.1

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NCBI Reference Sequences (RefSeq)

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

NG_009250.1 RefSeqGene

Range

5001..74149

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

AC098587, DA678599, M21574

Consensus CDS

CCDS3495.1

UniProtKB/Swiss-Prot

P16234

Related

ENSP00000257290, OTTHUMP00000158882, ENST00000257290, OTTHUMT00000250598

Conserved Domains (4) summary

cd04972
Location:415 – 497
Blast Score: 246

Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC

cd05859
Location:313 – 413
Blast Score: 392

Ig4_PDGFR-alpha; Fourth immunoglobulin (Ig)-like domain of platelet-derived growth factor receptor (PDGFR) alpha

cd05861
Location:228 – 311
Blast Score: 370

Ig1_PDGFR-alphabeta; Frst immunoglobulin (Ig)-like domain of platelet-derived growth factor (PDGF) receptors (R), alpha (CD140a), and beta (CD140b)

cd05105
Location:555 – 956
Blast Score: 2146

PTKc_PDGFR_alpha; Catalytic domain of the Protein Tyrosine Kinase, Platelet Derived Growth Factor Receptor alpha

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000004.11 Reference GRCh37.p5 Primary Assembly

Range

55095264..55164412

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000136.1 Alternate HuRef

Range

51043324..51112555

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC098587.5 (13720..37077)	None
genomic	AC138779.2 (98114..130002)	None
genomic	CH471057.1	EAX05457.1
		EAX05458.1
genomic	CS172399.1	CAJ33669.1
genomic	CS172821.1	CAJ33686.1
genomic	CS566148.1	CAN37625.1
genomic	D50017.2	BAA08742.1
genomic	HC040719.1	CBH30545.1
mRNA	AA599881.1	None
mRNA	AA625689.1	None
mRNA	AK308353.1	None
mRNA	AK311006.1	None
mRNA	AK316578.1	BAG38166.1
mRNA	AV689272.1	None
mRNA	BC015186.1	AAH15186.1
mRNA	BC063414.1	AAH63414.1
mRNA	DA678599.1	None
mRNA	L25829.1	None
mRNA	M21574.1	AAA96715.1
mRNA	M22734.1	AAA60048.1
mRNA	M30494.1	None
mRNA	X76079.1	None