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Aliases for PDGFRA Gene

Aliases for PDGFRA Gene

  • 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
  • EC 2.7.10.1 4 63
  • RHEPDGFRA 3 4
  • PDGFR-2 3 4
  • PDGFR2 3 4
  • Rearranged-In-Hypereosinophilia-Platelet Derived Growth Factor Receptor Alpha Fusion Protein 3
  • Alpha Platelet-Derived Growth Factor Receptor 4
  • Platelet-Derived Growth Factor Alpha Receptor 4
  • PDGFRA/BCR Fusion 3
  • PDGFR-Alpha 4
  • EC 2.7.10 63
  • 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]

GeneCards Summary for PDGFRA Gene

PDGFRA (Platelet-Derived Growth Factor Receptor, Alpha Polypeptide) is a Protein Coding gene. Diseases associated with PDGFRA include hypereosinophilic syndrome and myeloid neoplasm associated with pdgfra rearrangement. Among its related pathways are PI3K-Akt signaling pathway and PI3K/AKT Signaling in Cancer. GO annotations related to this gene include protein homodimerization activity and protein kinase activity. An important paralog of this gene is FGFR3.

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

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDGFRA Gene

Genomics for PDGFRA Gene

Regulatory Elements for PDGFRA Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PDGFRA Gene

Chromosome:
4
Start:
54,229,097 bp from pter
End:
54,298,247 bp from pter
Size:
69,151 bases
Orientation:
Plus strand

Genomic View for PDGFRA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PDGFRA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDGFRA Gene

Proteins for PDGFRA Gene

  • 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

Proteomics data for PDGFRA Gene at MOPED

Post-translational modifications for PDGFRA Gene

  • 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.
  • N-glycosylated
  • Ubiquitinated, leading to its degradation.
  • Glycosylation at Asn 42, Asn 76, Asn 103, Asn 179, Asn 353, Asn 359, Asn 458, and Asn 468
  • Modification sites at PhosphoSitePlus

Other Protein References for PDGFRA Gene

Antibody Products

  • R&D Systems Antibodies for PDGFRA (PDGF R alpha)
  • Cell Signaling Technology (CST) Antibodies for PDGFRA (PDGFRA)

Protein Products

Domains & Families for PDGFRA Gene

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 :
  • Contains 5 Ig-like C2-type (immunoglobulin-like) domains.
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.
Domain:
  • Contains 5 Ig-like C2-type (immunoglobulin-like) domains.
  • Contains 1 protein kinase domain.
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

Molecular function for PDGFRA Gene

GENATLAS Biochemistry:
platelet-derived growth factor receptor,alpha,growth arrest specific gene (gas),subunit,homodimerizing and heterodimerizing with PDGFRB,immunoglobulin superfamily
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.
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.

Enzyme Numbers (IUBMB) for PDGFRA Gene

Gene Ontology (GO) - Molecular Function for PDGFRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IDA 24190966
GO:0004713 protein tyrosine kinase activity --
GO:0004714 transmembrane receptor protein tyrosine kinase activity IDA 1646396
GO:0005018 platelet-derived growth factor alpha-receptor activity IMP 2554309
GO:0005021 vascular endothelial growth factor-activated receptor activity IDA 17470632
genes like me logo Genes that share ontologies with PDGFRA: view
genes like me logo Genes that share phenotypes with PDGFRA: view

Animal Models for PDGFRA Gene

MGI Knock Outs for PDGFRA:

Animal Model Products

miRNA for PDGFRA Gene

miRTarBase miRNAs that target PDGFRA

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PDGFRA

In Situ Assay Products

Flow Cytometry 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
Jensen Localization Image for PDGFRA Gene COMPARTMENTS Subcellular localization image for PDGFRA gene
Compartment Confidence
plasma membrane 5
nucleus 4
cytosol 3
cytoskeleton 2
extracellular 1

Gene Ontology (GO) - Cellular Components for PDGFRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm ISS --
GO:0005829 cytosol IMP 2554309
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 2536956
genes like me logo Genes that share ontologies with PDGFRA: view

Pathways & Interactions for PDGFRA Gene

SuperPathways for PDGFRA Gene

Superpath Contained pathways
1 Interleukin receptor SHC signaling
2 Apoptotic Pathways in Synovial Fibroblasts
3 PI3K/AKT Signaling in Cancer
4 GPCR Pathway
5 ERK Signaling
genes like me logo Genes that share pathways with PDGFRA: view

PCR Array Products

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:0000186 activation of MAPKK activity TAS --
GO:0001553 luteinization ISS --
GO:0001775 cell activation TAS 10508235
GO:0006468 protein phosphorylation --
genes like me logo Genes that share ontologies with PDGFRA: view

Drugs & Compounds for PDGFRA Gene

(61) Drugs for PDGFRA Gene - From: NovoSeek, HMDB, DGIdb, ApexBio, DrugBank, PharmGKB, ClinicalTrials, and FDA Approved Drugs

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
imatinib Approved Pharma inhibitor, Target, antagonist Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 567
Sunitinib Approved, Investigational Pharma inhibitor, Target, antagonist 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 472
Pazopanib Approved Pharma inhibitor, Target VEFGR, c-Kit, and PDGFR inhibitor, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 0
Becaplermin Approved, Investigational Pharma inhibitor, Target 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

(17) Additional Compounds for PDGFRA Gene - From: HMDB, NovoSeek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Antagonist, Gating inhibitor 58-64-0
N-desmethylimatinib
  • CGP74588
AC 710
1351522-04-7
DMPQ dihydrochloride
1123491-15-5
SU 16f
251356-45-3
genes like me logo Genes that share compounds with PDGFRA: view

Drug Products

Transcripts for PDGFRA Gene

Unigene Clusters for PDGFRA Gene

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

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PDGFRA

Flow Cytometry 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

mRNA expression in normal human tissues 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, PaxDb, and MOPED for PDGFRA Gene



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.
genes like me logo Genes that share expression patterns with PDGFRA: view

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia PDGFRA 35
  • 90.08 (n)
  • 94.12 (a)
PDGFRA 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PDGFRA 35
  • 91.03 (n)
  • 95.68 (a)
PDGFRA 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pdgfra 35
  • 86.47 (n)
  • 91.83 (a)
Pdgfra 16
Pdgfra 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PDGFRA 35
  • 97.52 (n)
  • 97.33 (a)
PDGFRA 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pdgfra 35
  • 86 (n)
  • 91.18 (a)
oppossum
(Monodelphis domestica)
Mammalia PDGFRA 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 64 (a)
OneToMany
-- 36
  • 78 (a)
OneToMany
-- 36
  • 69 (a)
OneToMany
-- 36
  • 75 (a)
OneToMany
chicken
(Gallus gallus)
Aves PDGFRA 35
  • 75.84 (n)
  • 80.57 (a)
PDGFRA 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDGFRA 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100124862 35
  • 71.12 (n)
  • 75.63 (a)
Str.9869 35
African clawed frog
(Xenopus laevis)
Amphibia pdgfra-prov 35
zebrafish
(Danio rerio)
Actinopterygii pdgfra 35
pdgfra 35
  • 65.13 (n)
  • 63.68 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3277 37
  • 32 (a)
worm
(Caenorhabditis elegans)
Secernentea R09D1.12 37
  • 45 (a)
ver-2 37
  • 39 (a)
C24G6.2 35
  • 49.72 (n)
  • 42.19 (a)
Species with no ortholog for PDGFRA:
  • 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)

Paralogs for PDGFRA Gene

Paralogs for PDGFRA Gene

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

genes like me logo Genes that share paralogs with PDGFRA: view

Variants for PDGFRA Gene

Sequence variations from dbSNP and Humsavar for PDGFRA Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
VAR_034378 -
VAR_042032 -
VAR_042033 -
VAR_042034 -
VAR_042035 A glioblastoma multiforme sample

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)

Relevant External Links for PDGFRA Gene

HapMap Linkage Disequilibrium report
PDGFRA
Human Gene Mutation Database (HGMD)
PDGFRA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PDGFRA Gene

Disorders for PDGFRA Gene

MalaCards: The human disease database

(64) MalaCards diseases for PDGFRA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
hypereosinophilic syndrome
  • disseminated eosinophilic collagen disease
myeloid neoplasm associated with pdgfra rearrangement
hypereosinophilic syndrome, idiopathic, resistant to imatinib
  • idiopathic hypereosinophilic syndrome
gastrointestinal stromal tumor
  • gastrointestinal stromal tumor, familial
chronic eosinophilic leukemia
- elite association

UniProtKB/Swiss-Prot

PGFRA_HUMAN
  • 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}.
  • 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}.

Relevant External Links for PDGFRA

Genetic Association Database (GAD)
PDGFRA
Human Genome Epidemiology (HuGE) Navigator
PDGFRA
Tumor Gene Database (TGDB):
PDGFRA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PDGFRA
genes like me logo Genes that share disorders with PDGFRA: view

No data available for Genatlas for PDGFRA Gene

Publications for PDGFRA Gene

  1. Efficacy of the kinase inhibitor SU11248 against gastrointestinal stromal tumor mutants refractory to imatinib mesylate. (PMID: 16638875) Prenen H. … Debiec-Rychter M. (Clin. Cancer Res. 2006) 23 25 26 67
  2. PDGFRA mutations in gastrointestinal stromal tumors: frequency, spectrum and in vitro sensitivity to imatinib. (PMID: 15928335) Corless C.L. … Heinrich M.C. (J. Clin. Oncol. 2005) 23 25 26 67
  3. Epithelioid gastrointestinal stromal tumor with PDGFRA activating mutation and immunoreactivity. (PMID: 15894928) Yi E.S. … Weidner N. (Appl. Immunohistochem. Mol. Morphol. 2005) 23 25 26 67
  4. Imatinib resistance in gastrointestinal stromal tumors. (PMID: 15946589) Chen L.L. … Benjamin R.S. (Curr Oncol Rep 2005) 25 26 67
  5. Modern diagnosis and treatment of primary eosinophilia. (PMID: 15995325) Tefferi A. (Acta Haematol. 2005) 25 26 67

Products for PDGFRA Gene

Sources for PDGFRA Gene

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