PDGFRA Gene (Protein Coding)

Platelet Derived Growth Factor Receptor Alpha

GC04P054229
GIFtS:
55
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 al... See more...

Aliases for PDGFRA Gene

Aliases for PDGFRA Gene

  • Platelet Derived Growth Factor Receptor Alpha 2 3 5
  • PDGFR2 2 3 4
  • Platelet-Derived Growth Factor Receptor, Alpha Polypeptide 2 3
  • Alpha-Type Platelet-Derived Growth Factor Receptor 3 4
  • Platelet-Derived Growth Factor Receptor Alpha 3 4
  • Platelet-Derived Growth Factor Receptor 2 3 4
  • CD140 Antigen-Like Family Member A 3 4
  • CD140a Antigen 3 4
  • PDGF-R-Alpha 3 4
  • EC 2.7.10.1 4 50
  • PDGFR-2 3 4
  • Alpha Platelet-Derived Growth Factor Receptor 4
  • Platelet-Derived Growth Factor Alpha Receptor 4
  • PDGFR-Alpha 4
  • RHEPDGFRA 4
  • EC 2.7.10 50
  • CD140A 3
  • PDGFRA 5
  • CD140a 2
  • GAS9 2

External Ids for PDGFRA Gene

Previous GeneCards Identifiers for PDGFRA Gene

  • GC04P054806
  • GC04P055065
  • GC04P054945
  • GC04P055010
  • GC04P054936
  • GC04P055095
  • GC04P051043

Summaries for PDGFRA Gene

Entrez Gene Summary for PDGFRA Gene

  • 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]

CIViC Summary for PDGFRA Gene

  • Commonly mutated in GI tract tumors, PDGFR family genes (mutually exclusive to KIT mutations) are a hallmark of gastrointestinal stromal tumors. Gene fusions involving the PDGFRA kinase domain are highly correlated with eosinophilia, and the WHO classifies myeloid and lymphoid neoplasms with these characteristics as a distinct disorder. Mutations in the 842 region of PDGFRA have been often found to confer resistance to the tyrosine kinase inhibitor, imatinib.

GeneCards Summary for PDGFRA Gene

PDGFRA (Platelet Derived Growth Factor Receptor Alpha) is a Protein Coding gene. Diseases associated with PDGFRA include Gist-Plus Syndrome and Hypereosinophilic Syndrome, Idiopathic. Among its related pathways are RET signaling and Nanog in Mammalian ESC Pluripotency. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein kinase activity. An important paralog of this gene is ENSG00000282278.

UniProtKB/Swiss-Prot Summary for PDGFRA Gene

  • Tyrosine-protein kinase that acts as a cell-surface receptor for PDGFA, PDGFB and PDGFC and plays an essential role in the regulation of embryonic development, cell proliferation, survival and chemotaxis. Depending on the context, promotes or inhibits cell proliferation and cell migration. Plays an important role in the differentiation of bone marrow-derived mesenchymal stem cells. Required for normal skeleton development and cephalic closure during embryonic development. Required for normal development of the mucosa lining the gastrointestinal tract, and for recruitment of mesenchymal cells and normal development of intestinal villi. Plays a role in cell migration and chemotaxis in wound healing. Plays a role in platelet activation, secretion of agonists from platelet granules, and in thrombin-induced platelet aggregation. Binding of its cognate ligands - homodimeric PDGFA, homodimeric PDGFB, heterodimers formed by PDGFA and PDGFB or homodimeric PDGFC -leads to the activation of several signaling cascades; the response depends on the nature of the bound ligand and is modulated by the formation of heterodimers between PDGFRA and PDGFRB. Phosphorylates PIK3R1, PLCG1, and PTPN11. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate, mobilization of cytosolic Ca(2+) and the activation of protein kinase C. Phosphorylates PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, and thereby mediates activation of the AKT1 signaling pathway. Mediates activation of HRAS and of the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. Promotes activation of STAT family members STAT1, STAT3 and STAT5A and/or STAT5B. Receptor signaling is down-regulated by protein phosphatases that dephosphorylate the receptor and its down-stream effectors, and by rapid internalization of the activated receptor.

Tocris Summary for PDGFRA Gene

  • Platelet-derived growth factor receptors (PDGFRs) are catalytic receptors that have intracellular tyrosine kinase activity. They have roles in the regulation of many biological processes including embryonic development, angiogenesis, cell proliferation and differentiation.

Gene Wiki entry for PDGFRA Gene

Additional gene information for PDGFRA Gene

No data available for PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PDGFRA Gene

Genomics for PDGFRA Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PDGFRA Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH04J054224 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 256.6 +0.8 791 10.6 BCLAF1 ZNF654 ZNF600 JUND ZNF580 CEBPA ZNF223 ZNF10 POLR2A ZIC2 PDGFRA HSALNG0034470 GSX2 HSALNG0034469 KIT ENSG00000282278
GH04J054264 Promoter 0.3 EPDnew 261 +35.8 35830 0.1 PDGFRA piR-48759-228 piR-59769-458 KIT ENSG00000282278
GH04J054258 Promoter 0.3 EPDnew 250.3 +29.7 29687 0.1 PDGFRA piR-48759-228 piR-59769-458 HSALNG0034470 KIT ENSG00000282278
GH04J054261 Promoter 0.3 EPDnew 250.3 +32.0 31951 0.1 PDGFRA piR-48759-228 piR-59769-458 HSALNG0034470 KIT ENSG00000282278
GH04J054267 Promoter 0.3 EPDnew 250.3 +38.5 38490 0.1 piR-48759-228 PDGFRA HSALNG0034471 KIT ENSG00000282278
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PDGFRA on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PDGFRA

Top Transcription factor binding sites by QIAGEN in the PDGFRA gene promoter:
  • AML1a
  • c-Myb
  • c-Myc
  • c-Rel
  • COMP1
  • GATA-1
  • Max1
  • MAZR
  • SRY
  • YY1

Genomic Locations for PDGFRA Gene

Latest Assembly
chr4:54,229,127-54,298,245
(GRCh38/hg38)
Size:
69,119 bases
Orientation:
Plus strand

Previous Assembly
chr4:55,095,460-55,164,412
(GRCh37/hg19 by Entrez Gene)
Size:
68,953 bases
Orientation:
Plus strand

chr4:55,095,264-55,164,414
(GRCh37/hg19 by Ensembl)
Size:
69,151 bases
Orientation:
Plus strand

Genomic View for PDGFRA Gene

Genes around PDGFRA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDGFRA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDGFRA Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PDGFRA Gene

Proteins for PDGFRA Gene

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  1. Antibodies for research
  2. Protein products for research
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  • Protein details for PDGFRA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P16234-PGFRA_HUMAN
    Recommended name:
    Platelet-derived growth factor receptor alpha
    Protein Accession:
    P16234
    Secondary Accessions:
    • B2RE69
    • E9PBH0
    • Q6P4H5
    • Q96KZ7
    • Q9UD28

    Protein attributes for PDGFRA Gene

    Size:
    1089 amino acids
    Molecular mass:
    122670 Da
    Quaternary structure:
    • Interacts with homodimeric PDGFA, PDGFB and PDGFC, and with heterodimers formed by PDGFA and PDGFB. Monomer in the absence of bound ligand. Interaction with dimeric PDGFA, PDGFB and/or PDGFC leads to receptor dimerization, where both PDGFRA homodimers and heterodimers with PDGFRB are observed. Interacts (tyrosine phosphorylated) with SHB (via SH2 domain) (By similarity). Interacts (tyrosine phosphorylated) with SHF (via SH2 domain). Interacts (tyrosine phosphorylated) with SRC (via SH2 domain). Interacts (tyrosine phosphorylated) with PIK3R1. Interacts (tyrosine phosphorylated) with PLCG1 (via SH2 domain). Interacts (tyrosine phosphorylated) with CRK, GRB2 and GRB7.
    • (Microbial infection) Interacts with human cytomegalovirus/HHV-5 envelope glycoprotein B/gB. Interacts also with the trimeric complex gH-gL-gO.
    SequenceCaution:
    • Sequence=AAP69563.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PDGFRA Gene

    Alternative splice isoforms for PDGFRA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PDGFRA Gene

Protein Expression for PDGFRA Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for PDGFRA Gene

P16234:
  • LIRAKEEDSG
  • QVARGME
  • RDLAARN
  • YIGVTYKNE
  • FLKSDHPAV
  • VAVKMLK
  • TLIENLTEI
  • QYVPMLE
  • IYIYVPDP
  • LPVKWMA
  • DLLSFTYQVA
  • EPEKRPSFYHLSEIVE
  • NIVNLLGACT
  • SDVWSYGI
  • ALMSELK
  • WEIFSLG
  • SKYSDIQRS
  • KICDFGLARD
  • FLASKNCVHRDLAARNVL
  • AARNVLL
  • PLPDIDPV
  • KWMAPESIF
  • LYTTLSDVWS
  • LGGTPYP
  • ENLTEITT
  • RSYVILS
  • DEQRLSADSGYI
  • GILLWEIF
  • DGHEYIYVDP
  • GPIYIITEYC
  • KPRYEIRW
  • PVKWMAPE
  • CYYNHTQ
  • GETIVVTC
  • KRNRHSSQTSEESAI
  • FYNKIKSGYRM
  • PIYIITE
  • DFGLARDI
  • ELTVAAAVLVLLVIVIISLIVLV

Post-translational modifications for PDGFRA Gene

  • N-glycosylated.
  • Ubiquitinated, leading to its internalization and degradation.
  • Autophosphorylated on tyrosine residues upon ligand binding. Autophosphorylation occurs in trans, i.e. one subunit of the dimeric receptor phosphorylates tyrosine residues on the other subunit. Phosphorylation at Tyr-731 and Tyr-742 is important for interaction with PIK3R1. Phosphorylation at Tyr-720 and Tyr-754 is important for interaction with PTPN11. Phosphorylation at Tyr-762 is important for interaction with CRK. Phosphorylation at Tyr-572 and Tyr-574 is important for interaction with SRC and SRC family members. Phosphorylation at Tyr-988 and Tyr-1018 is important for interaction with PLCG1.
  • Glycosylation at Asn42, Asn76, Asn103, Asn179, Asn353, Asn359, Asn458, and Asn468
  • Modification sites at PhosphoSitePlus

Other Protein References for PDGFRA Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

Domains & Families for PDGFRA Gene

Gene Families for PDGFRA Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for PDGFRA Gene

InterPro:
Blocks:
  • Immunoglobulin C-2 type
  • Receptor tyrosine kinase, class III
  • Tyrosine protein kinase, active site
  • Vascular endothelial growth factor receptor signature

Suggested Antigen Peptide Sequences for PDGFRA Gene

GenScript: Design optimal peptide antigens:
  • CD140a antigen (PGFRA_HUMAN)
  • PDGFRA protein (Q6P4H5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P16234

UniProtKB/Swiss-Prot:

PGFRA_HUMAN :
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.
genes like me logo Genes that share domains with PDGFRA: view

Function for PDGFRA Gene

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  6. Cell Lines for research

Molecular function for PDGFRA Gene

UniProtKB/Swiss-Prot Function:
Tyrosine-protein kinase that acts as a cell-surface receptor for PDGFA, PDGFB and PDGFC and plays an essential role in the regulation of embryonic development, cell proliferation, survival and chemotaxis. Depending on the context, promotes or inhibits cell proliferation and cell migration. Plays an important role in the differentiation of bone marrow-derived mesenchymal stem cells. Required for normal skeleton development and cephalic closure during embryonic development. Required for normal development of the mucosa lining the gastrointestinal tract, and for recruitment of mesenchymal cells and normal development of intestinal villi. Plays a role in cell migration and chemotaxis in wound healing. Plays a role in platelet activation, secretion of agonists from platelet granules, and in thrombin-induced platelet aggregation. Binding of its cognate ligands - homodimeric PDGFA, homodimeric PDGFB, heterodimers formed by PDGFA and PDGFB or homodimeric PDGFC -leads to the activation of several signaling cascades; the response depends on the nature of the bound ligand and is modulated by the formation of heterodimers between PDGFRA and PDGFRB. Phosphorylates PIK3R1, PLCG1, and PTPN11. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate, mobilization of cytosolic Ca(2+) and the activation of protein kinase C. Phosphorylates PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, and thereby mediates activation of the AKT1 signaling pathway. Mediates activation of HRAS and of the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. Promotes activation of STAT family members STAT1, STAT3 and STAT5A and/or STAT5B. Receptor signaling is down-regulated by protein phosphatases that dephosphorylate the receptor and its down-stream effectors, and by rapid internalization of the activated receptor.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA-COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.10.1; Evidence={ECO:0000255|PROSITE-ProRule:PRU10028};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Present in an inactive conformation in the absence of bound ligand. Binding of PDGFA and/or PDGFB leads to dimerization and activation by autophosphorylation on tyrosine residues. Inhibited by imatinib, nilotinib and sorafenib.
GENATLAS Biochemistry:
platelet-derived growth factor receptor,alpha,growth arrest specific gene (gas),subunit,homodimerizing and heterodimerizing with PDGFRB,immunoglobulin superfamily

Enzyme Numbers (IUBMB) for PDGFRA Gene

Phenotypes From GWAS Catalog for PDGFRA Gene

Gene Ontology (GO) - Molecular Function for PDGFRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IDA 24190966
GO:0004713 protein tyrosine kinase activity IEA --
GO:0004714 transmembrane receptor protein tyrosine kinase activity IBA,IDA 1646396
GO:0005018 platelet-derived growth factor alpha-receptor activity IMP 2554309
genes like me logo Genes that share ontologies with PDGFRA: view
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Human Phenotype Ontology for PDGFRA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PDGFRA Gene

MGI Knock Outs for PDGFRA:

Animal Models for research

miRNA for PDGFRA Gene

miRTarBase miRNAs that target PDGFRA

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDGFRA

No data available for Transcription Factor Targets and HOMER Transcription for PDGFRA Gene

Localization for PDGFRA Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDGFRA Gene

Cell membrane. Single-pass type I membrane protein. Cell projection, cilium. Golgi apparatus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PDGFRA gene
Compartment Confidence
plasma membrane 5
nucleus 5
golgi apparatus 4
extracellular 3
cytoskeleton 3
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
peroxisome 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Cell Junctions (2)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PDGFRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm ISS --
GO:0005794 Golgi apparatus ISS --
GO:0005886 plasma membrane IDA,TAS --
genes like me logo Genes that share ontologies with PDGFRA: view

Pathways & Interactions for PDGFRA Gene

PathCards logo

SuperPathways for PDGFRA Gene

SuperPathway Contained pathways
1 RET signaling
Frs2-mediated activation
.95
GRB2 events in EGFR signaling
.95
MAPK1/MAPK3 signaling
.95
Prolonged ERK activation events
.95
RAF/MAP kinase cascade
.95
SHC1 events in EGFR signaling
.95
Signaling by Leptin
.95
SOS-mediated signalling
.95
VEGFR2 mediated cell proliferation
.95
ARMS-mediated activation
.95
Signalling to ERKs
.95
Signalling to p38 via RIT and RIN
.95
Signalling to RAS
.95
Interleukin receptor SHC signaling
.95
Interleukin-3, 5 and GM-CSF signaling
.94
Interleukin-2 signaling
.94
Downstream signal transduction
.94
Signaling by PDGF
.94
DAP12 signaling
.92
RET signaling
.92
Insulin receptor signalling cascade
.92
Signaling by Insulin receptor
.92
IRS-mediated signalling
.91
Signaling by EGFR
.90
FCERI mediated MAPK activation
.90
IGF1R signaling cascade
.90
IRS-related events triggered by IGF1R
.90
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
.90
DAP12 interactions
.89
NCAM signaling for neurite out-growth
.89
NGF signalling via TRKA from the plasma membrane
.87
MAPK family signaling cascades
.87
Signaling by SCF-KIT
.85
Signalling by NGF
.81
Fc epsilon receptor (FCERI) signaling
.79
VEGFA-VEGFR2 Pathway
.78
Signaling by VEGF
.76
Gastrin-CREB signalling pathway via PKC and MAPK
.55
2 Apoptotic Pathways in Synovial Fibroblasts
Cellular Apoptosis Pathway
.85
Mitochondrial Apoptosis
.85
Apoptotic Pathways in Synovial Fibroblasts
.84
p53 Mediated Apoptosis
.84
DHA Signaling
.74
Telomerase Components in Cell Signaling
.72
PPAR Pathway
.66
Rac1 Pathway
.65
Actin-Based Motility by Rho Family GTPases
.62
ERK5 Signaling
.61
eIF2 Pathway
.60
Rap1 Pathway
.57
Nuclear Receptor Activation by Vitamin-A
.57
3 GPCR Pathway
Paxillin Interactions
.73
Ras Pathway
.73
GPCR Pathway
.62
Pancreatic Adenocarcinoma
.59
Breast Cancer Regulation by Stathmin1
.58
NFAT in Immune Response
.58
Estrogen Pathway
.55
P2Y Receptor Signaling
.38
4 PI3K/AKT activation
Negative regulation of the PI3K/AKT network
.93
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
.93
PIP3 activates AKT signaling
.91
Role of LAT2/NTAL/LAB on calcium mobilization
.91
GAB1 signalosome
.89
PI3K/AKT activation
.89
Constitutive Signaling by Aberrant PI3K in Cancer
.75
PI3K/AKT Signaling in Cancer
.72
5 ERK Signaling
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
genes like me logo Genes that share pathways with PDGFRA: view

Pathways by source for PDGFRA Gene

5 GeneGo (Thomson Reuters) pathways for PDGFRA Gene
  • Cytoskeleton remodeling_Role of PDGFs in cell migration
  • Development PDGF signaling via MAPK cascades
  • Development PDGF signaling via STATs and NF-kB
  • Signal transduction IP3 signaling
  • Transcription PPAR Pathway
2 Tocris pathways for PDGFRA Gene
58 Qiagen pathways for PDGFRA Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin Nucleation and Branching
  • Actin Nucleation by ARP-WASP Complex
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
2 Cell Signaling Technology pathways for PDGFRA Gene

SIGNOR curated interactions for PDGFRA Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for PDGFRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0001553 luteinization ISS --
GO:0001701 in utero embryonic development IEA --
GO:0001775 cell activation TAS 10508235
GO:0002244 hematopoietic progenitor cell differentiation IEA --
genes like me logo Genes that share ontologies with PDGFRA: view

Drugs & Compounds for PDGFRA Gene

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(77) Drugs for PDGFRA Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sunitinib Approved, Investigational Pharma Target, inhibitor VEGFR/PDGFRβ/ KIT/ FLT3/RET/CSF-1R inhibitor, RTK inhibitor, Potent VEGFR, PDGFRbeta and KIT inhibitor, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 556
imatinib Approved Pharma Target, antagonist, inhibitor Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 0
regorafenib Approved Pharma Target, inhibitor Inhibitor of VEGFR/PDGFR/FGFR/mutant kit/RET/Raf-1, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 0
Becaplermin Approved, Investigational Pharma Target, inhibitor 25
Lenvatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 216

(13) Additional Compounds for PDGFRA Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 58-64-0
N-desmethylimatinib
  • CGP74588
  • N-Desmethylimatinib
SU 6668
252916-29-3

(3) Tocris Compounds for PDGFRA Gene

Compound Action Cas Number
DMPQ dihydrochloride Potent, selective inhibitor of PDGFRbeta 1123491-15-5
SU 6668 PDGFR, VEGFR and FGFR inhibitor 252916-29-3
Toceranib Potent PDGFR and VEGFR inhibitor 356068-94-5

(29) ApexBio Compounds for PDGFRA Gene

Compound Action Cas Number
AG-18 EGFR/PDGFR inhibitor 118409-57-7
Amuvatinib (MP-470, HPK 56) Tyrosine kinase inhibitor 850879-09-3
Apatinib VEGFR2 inhibitor, orally bioavailable, selective 811803-05-1
CP-673451 PDGFRα/β inhibitor,potent and selective 343787-29-1
Crenolanib (CP-868596) PDGFR-β inhibitor,potent and selective 670220-88-9
DMPQ dihydrochloride 1123491-15-5
Dovitinib (TKI258) Lactate Oral tyrosine kinase inhibitor (TKI) against FGFR1–3, VEGFR1–3, and platelet-derived growth factor receptor (PDGFR) 915769-50-5
Flumatinib mesylate 895519-91-2
Imatinib (STI571) Protein-tyrosine kinase inhibitor 152459-95-5
Imatinib hydrochloride V-Abl/c-Kit/PDGFR inhibitor 862366-25-4
Imatinib Mesylate (STI571) Abl/c-kit/PDGFR inhibitor 220127-57-1
Linifanib (ABT-869) VEGFR/PDGFR inhibitor 796967-16-3
Masitinib (AB1010) Tyrosine kinase inhibitor, potent and selective 790299-79-5
MK-2461 C-Met (WT/mutants) inhibitor 917879-39-1
Motesanib Diphosphate (AMG-706) VEGFR/ PDGFR/c-Kit/Ret inhibitor 857876-30-3
Nintedanib (BIBF 1120) VEGFR/PDGFR/FGFR inhibitor 928326-83-4
Pazopanib (GW-786034) VEGFR/PDGFR/FGFR inhibitor 635702-64-6
Pazopanib Hydrochloride VEGFR/PDGFR/FGFR/c-Kit/ c-Fms inhibitor 635702-64-6
PP121 Dual inhibitor of tyrosine and phosphoinositide kinases 1092788-83-4
Regorafenib Inhibitor of VEGFR/PDGFR/FGFR/mutant kit/RET/Raf-1 755037-03-7
Sennoside B 128-57-4
SU 16f 251356-45-3
SU 4312 5812-07-7
SU 5402 VEGFR2/FGFR/PDGFR/EGFR inhibitor 215543-92-3
Sunitinib RTK inhibitor 557795-19-4
Toceranib c-Kit/VEGFR/PDGFR inhibtor 356068-94-5
TSU-68 (SU6668,Orantinib) PDGFR/Flk-1/FGFR1 inhibitor,potent and competitive 252916-29-3
Tyrphostin 9 Selective EGFR/PDGFR inhibitor 10537-47-0
Tyrphostin AG 1296 PDGFR inhibitor,selective and ATP-competitive 146535-11-7
genes like me logo Genes that share compounds with PDGFRA: view

Drug products for research

Transcripts for PDGFRA Gene

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  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
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mRNA/cDNA for PDGFRA Gene

5 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDGFRA

Alternative Splicing Database (ASD) splice patterns (SP) for PDGFRA Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19 ^
SP1: - - - - - - -
SP2: - - - - - - -
SP3: -
SP4:
SP5: - - - -
SP6: - - -
SP7: - - -
SP8: - -
SP9:

ExUns: 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29
SP1: - - -
SP2:
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for PDGFRA Gene

GeneLoc Exon Structure for
PDGFRA

Expression for PDGFRA Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PDGFRA Gene

mRNA expression in normal human tissues for PDGFRA Gene
mRNA expression by BioGPS for PDGFRA GenemRNA expression by GTEx for PDGFRA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PDGFRA Gene

This gene is overexpressed in Ovary (x5.4).

Protein differential expression in normal tissues from HIPED for PDGFRA Gene

This gene is overexpressed in Bone marrow stromal cell (27.9) and Cervix (13.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PDGFRA Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PDGFRA

SOURCE GeneReport for Unigene cluster for PDGFRA Gene:

Hs.74615

mRNA Expression by UniProt/SwissProt for PDGFRA Gene:

P16234-PGFRA_HUMAN
Tissue specificity: Detected in platelets (at protein level). Widely expressed. Detected in brain, fibroblasts, smooth muscle, heart, and embryo. Expressed in primary and metastatic colon tumors and in normal colon tissue.

Evidence on tissue expression from TISSUES for PDGFRA Gene

  • Nervous system(4.8)
  • Lung(4.6)
  • Blood(4.5)
  • Heart(3.2)
  • Spleen(3.1)
  • Intestine(3.1)
  • Stomach(3)
  • Muscle(3)
  • Liver(2.8)
  • Kidney(2.7)
  • Skin(2.7)
  • Lymph node(2.4)
  • Gall bladder(2.4)
  • Bone marrow(2.4)
  • Adrenal gland(2.4)
  • Pancreas(2.2)
  • Eye(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PDGFRA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • head
  • mouth
  • pharynx
Thorax:
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • intestine
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • rectum
Limb:
  • digit
  • finger
  • hand
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with PDGFRA: view

Primer products for research

No data available for Protein tissue co-expression partners for PDGFRA Gene

Orthologs for PDGFRA Gene

This gene was present in the common ancestor of animals.

Orthologs for PDGFRA Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia PDGFRA 29 30
  • 97.52 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia PDGFRA 29 30
  • 91.03 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia PDGFRA 29 30
  • 90.08 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Pdgfra 29 16 30
  • 86.47 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Pdgfra 29
  • 86 (n)
Oppossum
(Monodelphis domestica)
 Mammalia PDGFRA 30
  • 84 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 30
  • 78 (a)
 OneToMany
-- 30
  • 75 (a)
 OneToMany
-- 30
  • 69 (a)
 OneToMany
-- 30
  • 64 (a)
 OneToMany
Chicken
(Gallus gallus)
 Aves PDGFRA 29 30
  • 75.84 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia PDGFRA 30
  • 77 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100124862 29
  • 71.12 (n)
Str.9869 29
African clawed frog
(Xenopus laevis)
 Amphibia pdgfra-prov 29
Zebrafish
(Danio rerio)
 Actinopterygii pdgfra 29 29
  • 65.13 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta CG3277 31
  • 32 (a)
Worm
(Caenorhabditis elegans)
 Secernentea C24G6.2 29
  • 49.72 (n)
R09D1.12 31
  • 45 (a)
ver-2 31
  • 39 (a)
Species where no ortholog for PDGFRA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PDGFRA Gene

ENSEMBL:
Gene Tree for PDGFRA (if available)
TreeFam:
Gene Tree for PDGFRA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PDGFRA: view image
Alliance of Genome Resources:
Additional Orthologs for PDGFRA

Paralogs for PDGFRA Gene

Paralogs for PDGFRA Gene

(5) SIMAP similar genes for PDGFRA Gene using alignment to 5 proteins:

  • PGFRA_HUMAN
  • D6RDX0_HUMAN
  • D6RG11_HUMAN
  • D6RIG5_HUMAN
  • D6RJH0_HUMAN
genes like me logo Genes that share paralogs with PDGFRA: view

Variants for PDGFRA Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PDGFRA Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
1000126 Uncertain Significance: Gastrointestinal stromal tumor 54,261,353(+) A/G
NM_006206.6(PDGFRA):c.308A>G (p.Asn103Ser) 		MISSENSE
1000442 Uncertain Significance: Gastrointestinal stromal tumor 54,267,629(+) G/A
NM_006206.6(PDGFRA):c.1009G>A (p.Val337Ile) 		MISSENSE
1000708 Uncertain Significance: Gastrointestinal stromal tumor 54,273,541(+) A/G
NM_006206.6(PDGFRA):c.1369A>G (p.Asn457Asp) 		MISSENSE
1000888 Uncertain Significance: Gastrointestinal stromal tumor 54,263,673(+) A/C
NM_006206.6(PDGFRA):c.374A>C (p.Asp125Ala) 		MISSENSE
1001179 Uncertain Significance: Gastrointestinal stromal tumor 54,272,478(+) C/A
NM_006206.6(PDGFRA):c.1322C>A (p.Pro441Gln) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PDGFRA Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PDGFRA Gene

Variant ID Type Subtype PubMed ID
dgv5209n100 CNV gain 25217958
esv2763361 CNV loss 21179565
esv3569425 CNV loss 25503493
esv3569426 CNV loss 25503493
nsv1002905 CNV loss 25217958
nsv1008497 CNV gain 25217958
nsv1123794 CNV deletion 24896259

Variation tolerance for PDGFRA Gene

Residual Variation Intolerance Score: 15.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.96; 68.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PDGFRA Gene

Human Gene Mutation Database (HGMD)
PDGFRA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDGFRA
Leiden Open Variation Database (LOVD)
PDGFRA

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDGFRA Gene

Disorders for PDGFRA Gene

MalaCards: The human disease database

(115) MalaCards diseases for PDGFRA Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
gist-plus syndrome
  • gistps
hypereosinophilic syndrome, idiopathic
  • hes
gastrointestinal stromal tumor
  • gist
myeloid and lymphoid neoplasms associated with pdgfra rearrangement
  • myeloid and lymphoid neoplasms with pdgfra rearrangement
chronic eosinophilic leukemia
  • pdgfra-associated chronic eosinophilic leukemia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PGFRA_HUMAN
  • Note=A chromosomal aberration involving PDGFRA is found in some cases of hypereosinophilic syndrome. Interstitial chromosomal deletion del(4)(q12q12) causes the fusion of FIP1L1 and PDGFRA (FIP1L1-PDGFRA). Mutations that cause overexpression and/or constitutive activation of PDGFRA may be a cause of hypereosinophilic syndrome. {ECO:0000269 PubMed:12808148}.
  • Gastrointestinal stromal tumor (GIST) [MIM:606764]: Common mesenchymal neoplasms arising in the gastrointestinal tract, most often in the stomach. They are histologically, immunohistochemically, and genetically different from typical leiomyomas, leiomyosarcomas, and schwannomas. Most GISTs are composed of a fairly uniform population of spindle-shaped cells. Some tumors are dominated by epithelioid cells or contain a mixture of spindle and epithelioid morphologies. Primary GISTs in the gastrointestinal tract commonly metastasize in the omentum and mesenteries, often as multiple nodules. However, primary tumors may also occur outside of the gastrointestinal tract, in other intra-abdominal locations, especially in the omentum and mesentery. {ECO:0000269 PubMed:12522257, ECO:0000269 PubMed:15928335}. Note=The gene represented in this entry may be involved in disease pathogenesis. Mutations causing PDGFRA constitutive activation have been found in gastrointestinal stromal tumors lacking KIT mutations (PubMed:12522257). {ECO:0000269 PubMed:12522257}.
  • GIST-plus syndrome (GISTPS) [MIM:175510]: A disorder characterized by multiple mesenchymal tumors of the gastrointestinal tract, including gastrointestinal stromal tumor, inflammatory fibroid polyps, and fibroid tumors. Additional features are coarse facies and skin, broad hands and feet, and premature tooth loss. GISTPS is an autosomal dominant disease with incomplete penetrance. Gastrointestinal stromal tumor and inflammatory fibroid polyps may also occur in isolation. {ECO:0000269 PubMed:14699510, ECO:0000269 PubMed:17087943, ECO:0000269 PubMed:25975287}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for PDGFRA

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PDGFRA: view

No data available for Genatlas for PDGFRA Gene

Publications for PDGFRA Gene

  1. PDGFRA mutations in gastrointestinal stromal tumors: frequency, spectrum and in vitro sensitivity to imatinib. (PMID: 15928335) Corless CL … Heinrich MC (Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2005) 3 4 22 25 72
  2. PDGFRA activating mutations in gastrointestinal stromal tumors. (PMID: 12522257) Heinrich MC … Fletcher JA (Science (New York, N.Y.) 2003) 3 4 22 72
  3. A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome. (PMID: 12660384) Cools J … Gilliland DG (The New England journal of medicine 2003) 3 4 22 72
  4. Chromosome copy number changes carry prognostic information independent of KIT/PDGFRA point mutations in gastrointestinal stromal tumors. (PMID: 20470368) Silva M … Teixeira MR (BMC medicine 2010) 3 22 40
  5. Detection of c-KIT and PDGFRA gene mutations in gastrointestinal stromal tumors: comparison of DHPLC and DNA sequencing methods using a single population-based cohort. (PMID: 20023271) Battochio A … Lai R (American journal of clinical pathology 2010) 3 22 40

ExternalLinks

View latest publications for PDGFRA gene in Mastermind

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