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PDGFRA Gene(Protein Coding)

Platelet Derived Growth Factor Receptor Alpha

GCID:
GC04P054229
GIFtS:
63
Genes Participants
UDN Logo

Aliases for PDGFRA Gene

Aliases for PDGFRA Gene

  • Platelet Derived Growth Factor Receptor Alpha 2 3 5
  • Platelet-Derived Growth Factor Receptor, Alpha Polypeptide 2 3
  • Alpha-Type Platelet-Derived Growth Factor Receptor 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
  • PDGFR-2 3 4
  • PDGFR2 3 4
  • Platelet-Derived Growth Factor Receptor Alpha 3
  • Alpha Platelet-Derived Growth Factor Receptor 4
  • Platelet-Derived Growth Factor Alpha Receptor 4
  • PDGFR-Alpha 4
  • EC 2.7.10.1 4
  • RHEPDGFRA 4
  • CD140A 3

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 Gastrointestinal Stromal Tumor and Hypereosinophilic Syndrome, Idiopathic. Among its related pathways are ERK Signaling and Focal Adhesion. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein kinase activity. An important paralog of this gene is PDGFRB.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for PDGFRA Gene

Genomics for PDGFRA Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for PDGFRA Gene

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 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 656.6 +1.2 1192 11 SIN3A ZNF2 ZNF48 YY1 GLIS2 ZNF143 REST GLIS1 MYNN NBN PDGFRA GSX2 LINC02283 ENSG00000282278
GH04J054264 Promoter 0.5 EPDnew 661 +35.9 35860 0.1 PDGFRA LINC02283 ENSG00000282278
GH04J054267 Promoter 0.5 EPDnew 650.3 +38.5 38520 0.1 PDGFRA LINC02283 ENSG00000282278
GH04J054272 Promoter 0.5 EPDnew 650.3 +43.3 43337 0.1 PDGFRA LINC02283 ENSG00000282278
GH04J054273 Promoter 0.5 EPDnew 650.3 +44.6 44579 0.1 PDGFRA LINC02283 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for PDGFRA Gene

Genomic Locations for PDGFRA Gene
chr4:54,229,097-54,298,247
(GRCh38/hg38)
Size:
69,151 bases
Orientation:
Plus strand
chr4:55,095,264-55,164,414
(GRCh37/hg19)
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

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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. Interacts with human cytomegalovirus/HHV-5 envelop glycoprotein B/gB.
    SequenceCaution:
    • Sequence=AAP69563.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; 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

Post-translational modifications for PDGFRA Gene

  • N-glycosylated.
  • Ubiquitinated, leading to its 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 isoforms=3468, Asn458, Asn359, isoforms=3353, isoforms=2, 3179, Asn103, Asn76, and Asn42
  • Modification sites at PhosphoSitePlus

Other Protein References for PDGFRA Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for PDGFRA (PDGF R alpha)

No data available for DME Specific Peptides for PDGFRA Gene

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
  • Predicted secreted proteins

Protein Domains for PDGFRA Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PDGFRA Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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:
ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
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:0004709 MAP kinase kinase kinase activity IBA --
GO:0004713 protein tyrosine kinase activity IBA,IEA --
GO:0004714 transmembrane receptor protein tyrosine kinase activity IDA 1646396
genes like me logo Genes that share ontologies with PDGFRA: view
genes like me logo Genes that share phenotypes with PDGFRA: view

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 Model Products

miRNA for PDGFRA Gene

miRTarBase miRNAs that target PDGFRA

Clone Products

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. Note=The activated receptor is rapidly internalized and degraded.

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
extracellular 2
cytoskeleton 2
mitochondrion 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for PDGFRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,ISS --
GO:0005737 cytoplasm ISS --
GO:0005886 plasma membrane TAS,IDA --
GO:0005887 integral component of plasma membrane IDA 2536956
GO:0005902 microvillus IEA --
genes like me logo Genes that share ontologies with PDGFRA: view

Pathways & Interactions for PDGFRA Gene

SuperPathways for PDGFRA Gene

PathCards logo More details on SuperPathways for PDGFRA
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

2 Tocris pathways for PDGFRA Gene
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

Products:

  1. Drug

(83) Drugs for PDGFRA Gene - From: DrugBank, PharmGKB, ClinicalTrials, DGIdb, FDA Approved Drugs, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sunitinib Approved, Investigational Pharma inhibitor, Target VEGFR/PDGFRβ/ KIT/ FLT3/RET/CSF-1R inhibitor, RTK inhibitor, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors, Potent VEGFR, PDGFRbeta and KIT inhibitor 518
imatinib Approved Pharma inhibitor, Target, antagonist Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 0
regorafenib Approved Pharma inhibitor, Target Inhibitor of VEGFR/PDGFR/FGFR/mutant kit/RET/Raf-1, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 0
midostaurin Approved, Investigational Pharma inhibitor, Target, antagonist Kinase Inhibitors 0
Pazopanib Approved Pharma inhibitor, Target VEFGR, c-Kit, and PDGFR inhibitor, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 0

(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
 Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
N-desmethylimatinib
  • CGP74588
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
genes like me logo Genes that share compounds with PDGFRA: view

Transcripts for PDGFRA Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for PDGFRA Gene

(8) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(240) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PDGFRA Gene

Platelet-derived growth factor receptor, alpha polypeptide:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
PDGFRA

Expression for PDGFRA Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

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



NURSA nuclear receptor signaling pathways regulating expression of PDGFRA Gene:

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(4.5)
  • Blood(4.4)
  • Intestine(2.9)
  • Stomach(2.9)
  • Muscle(2.6)
  • Heart(2.5)
  • Gall bladder(2.2)
  • Liver(2.2)
  • Spleen(2.1)
  • Bone marrow(2)
  • Skin(2)

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

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 34 33
  • 97.52 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia PDGFRA 34 33
  • 91.03 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia PDGFRA 34 33
  • 90.08 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Pdgfra 16 34 33
  • 86.47 (n)
rat
(Rattus norvegicus)
 Mammalia Pdgfra 33
  • 86 (n)
oppossum
(Monodelphis domestica)
 Mammalia PDGFRA 34
  • 84 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 34
  • 78 (a)
 OneToMany
-- 34
  • 75 (a)
 OneToMany
-- 34
  • 69 (a)
 OneToMany
-- 34
  • 64 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves PDGFRA 34 33
  • 75.84 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia PDGFRA 34
  • 77 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC100124862 33
  • 71.12 (n)
Str.9869 33
African clawed frog
(Xenopus laevis)
 Amphibia pdgfra-prov 33
zebrafish
(Danio rerio)
 Actinopterygii pdgfra 33 33
  • 65.13 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG3277 35
  • 32 (a)
worm
(Caenorhabditis elegans)
 Secernentea C24G6.2 33
  • 49.72 (n)
R09D1.12 35
  • 45 (a)
ver-2 35
  • 39 (a)
Species where no ortholog for PDGFRA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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

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 Assay

Sequence variations from dbSNP and Humsavar for PDGFRA Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1001537658 likely-benign, Gastrointestinal stromal tumor 54,273,660(+) C/G coding_sequence_variant, synonymous_variant
rs10028020 benign, not specified, Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome 54,277,410(+) G/A/C coding_sequence_variant, synonymous_variant
rs10034498 benign, Idiopathic hypereosinophilic syndrome, Gastrointestinal stromal tumor 54,297,659(+) T/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1007954435 uncertain-significance, Gastrointestinal stromal tumor 54,290,358(+) G/A/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1018795199 uncertain-significance, Gastrointestinal stromal tumor 54,263,893(+) C/G/T coding_sequence_variant, missense_variant, synonymous_variant

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

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

Disorders for PDGFRA Gene

MalaCards: The human disease database

(66) MalaCards diseases for PDGFRA Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- 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}.

Additional Disease Information for PDGFRA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  2. Molecular characterization of EGFR, PDGFRA and VEGFR2 in cervical adenosquamous carcinoma. (PMID: 19563658) Longatto-Filho A … Reis RM (BMC cancer 2009) 3 22 44 58
  3. A prospective, multicenter, phase 2 study of imatinib mesylate in korean patients with metastatic or unresectable gastrointestinal stromal tumor. (PMID: 19307738) Ryu MH … Kang YK (Oncology 2009) 3 22 44 58
  4. Interaction of PDGFRA promoter haplotypes and maternal environmental exposures in the risk of spina bifida. (PMID: 19215021) Toepoel M … van Zoelen EJ (Birth defects research. Part A, Clinical and molecular teratology 2009) 3 22 44 58
  5. Primary and secondary kinase genotypes correlate with the biological and clinical activity of sunitinib in imatinib-resistant gastrointestinal stromal tumor. (PMID: 18955458) Heinrich MC … Demetri GD (Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2008) 3 22 44 58

Products for PDGFRA Gene