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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 64
  • RHEPDGFRA 3 4
  • PDGFR-2 3 4
  • PDGFR2 3 4
  • Rearranged-In-Hypereosinophilia-Platelet Derived Growth Factor Receptor Alpha Fusion Protein 3
  • Platelet-Derived Growth Factor Receptor Alpha 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 64
  • CD140A 3

External Ids for PDGFRA Gene

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 fibrosarcoma of bone and hypereosinophilic syndrome. Among its related pathways are PI3K-Akt signaling pathway and PI-3K cascade. GO annotations related to this gene include protein homodimerization activity and platelet-derived growth factor receptor binding. 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, and contribute to the pathophysiology of some diseases, including cancer. There are two isoforms of the PDGFR receptor; PDGFRalpha and PDGFRbeta, which can form homo- or heterodimers. The endogenous PDGFR ligands are PDGF-A, -B, -C and -D, which induce receptor dimerization and transphosphorylation at specific tyrosine residues upon binding. This activates the intracellular kinase activity, initiating intracellular signaling through the MAPK, PI 3-K and PKCgamma pathways.

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

Genomic Location for PDGFRA Gene

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

Regulatory Elements 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.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn42, Asn76, Asn103, Asn179, Asn353, Asn359, Asn458, and Asn468

Other Protein References for PDGFRA Gene

Domains for PDGFRA Gene

UniProtKB/Swiss-Prot:

PGFRA_HUMAN
Domain:
  • Contains 5 Ig-like C2-type (immunoglobulin-like) domains.:
    • P16234
  • Contains 1 protein kinase domain.:
    • P16234
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.:
    • P16234
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 --
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:

miRNA for PDGFRA Gene

No data available for Transcription Factor Targeting 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
cytoskeleton 2
extracellular 2

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:0005886 plasma membrane TAS --
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 for PDGFRA Gene

SuperPathways for PDGFRA Gene

Superpath Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
2 PI-3K cascade
3 Signaling by FGFR
4 GPCR Pathway
5 ERK Signaling
genes like me logo Genes that share pathways with PDGFRA: view

Gene Ontology (GO) - Biological Process for PDGFRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001553 luteinization ISS --
GO:0001701 in utero embryonic development IEA --
GO:0001775 cell activation TAS 10508235
GO:0002244 hematopoietic progenitor cell differentiation IEA --
GO:0006468 protein phosphorylation --
genes like me logo Genes that share ontologies with PDGFRA: view

Compounds for PDGFRA Gene

(14) ApexBio Compounds for PDGFRA Gene

Compound Action Cas Number
Amuvatinib (MP-470, HPK 56) Multi-kinase inhibitor, inhibits PDGFR, c-Kit, and Flt3 [850879-09-3]
Crenolanib (CP-868596) Potent and selective PDGFR-beta inhibitor [670220-88-9]
Flumatinib mesylate multi-kinase inhibitor for c-Abl, PDGFRbeta and c-Kit [895519-91-2]
Imatinib Mesylate (STI571) Multi-target kinase inhibitor of abl, c-kit, and PDGFR [220127-57-1]
Masitinib (AB1010) tyrosine kinase, c-Kit, PDGFR, FGFR3, the FAK pathway inhibitor [790299-79-5]
MK-2461 potent inhibitor of Met, Ron, Flt1, Flt 3, PDGFRbeta, and Mer with IC50 of 2.5 nM, 7 nM, 10 nM, 22 nM, 22 nM and 24 nM, respectively. [917879-39-1]
Nintedanib (BIBF 1120) Multi-target kinase inhibitor, inhibits VEGFR, PDGFR, and FGFR [928326-83-4]
Pazopanib (GW-786034) Multi-target kinase inhibitor, inhibits VEGFR, PDGFR, and FGFR [635702-64-6]
Ponatinib (AP24534) pan-BCR-ABL inhibitor [943319-70-8]
Regorafenib Multi-kinase inhibitor, inhibits VEGFR, PDGFR, FGFR, mutant kit, RET, and Raf-1 [755037-03-7]
SKLB610 Potent VEGFR inhibitor [1125780-41-7]
Sorafenib Multi-target kinase inhibitor of Raf kinases and tyrosine kinases [284461-73-0]
Sorafenib Tosylate Multi-target kinase inhibitor of Raf kinases and tyrosine kinases [475207-59-1]
Sunitinib malate ATP-competitive multi-target kinase inhibitor, inhibits VEGFR, PDGFR, and KIT [341031-54-7]

(4) Tocris Compounds for PDGFRA Gene

Compound Action Cas Number
DMPQ dihydrochloride Potent, selective inhibitor of PDGFRbeta [137206-97-4]
SU 16f Potent and selective PDGFRbeta inhibitor [251356-45-3]
SU 6668 PDGFR, VEGFR and FGFR inhibitor [252916-29-3]
Sunitinib malate Potent VEGFR, PDGFRbeta and KIT inhibitor [341031-54-7]

(2) HMDB Compounds for PDGFRA Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0

(6) Drugbank Compounds for PDGFRA Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Becaplermin
  • c-sis
165101-51-9 target
Imatinib
  • CGP-57148B
152459-95-5 target antagonist
Pazopanib
  • GW-786034
444731-52-6 target inhibitor
Ponatinib
943319-70-8 target inhibitor
Regorafenib
755037-03-7 target inhibitor

(21) Novoseek inferred chemical compound relationships for PDGFRA Gene

Compound -log(P) Hits PubMed IDs
imatinib 94.1 137
sunitinib 81.8 12
tyrosine 80.3 113
pkc 412 68.8 4
ag-1296 57.5 1

(1) PharmGKB related drug/compound annotations for PDGFRA Gene

Drug/compound Annotation
pazopanib
genes like me logo Genes that share compounds with PDGFRA: view

Transcripts for PDGFRA Gene

Unigene Clusters for PDGFRA Gene

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

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 (5.4).

Integrated Proteomics: protein expression 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 expressions with PDGFRA: view

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 36
  • 97.52 (n)
  • 97.33 (a)
PDGFRA 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PDGFRA 36
  • 90.08 (n)
  • 94.12 (a)
PDGFRA 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PDGFRA 36
  • 91.03 (n)
  • 95.68 (a)
PDGFRA 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pdgfra 36
  • 86.47 (n)
  • 91.83 (a)
Pdgfra 16
Pdgfra 37
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PDGFRA 37
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 64 (a)
OneToMany
-- 37
  • 78 (a)
OneToMany
-- 37
  • 69 (a)
OneToMany
-- 37
  • 75 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Pdgfra 36
  • 86 (n)
  • 91.18 (a)
chicken
(Gallus gallus)
Aves PDGFRA 36
  • 75.84 (n)
  • 80.57 (a)
PDGFRA 37
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDGFRA 37
  • 77 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia pdgfra-prov 36
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100124862 36
  • 71.12 (n)
  • 75.63 (a)
Str.9869 36
zebrafish
(Danio rerio)
Actinopterygii pdgfra 36
pdgfra 36
  • 65.13 (n)
  • 63.68 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3277 38
  • 32 (a)
worm
(Caenorhabditis elegans)
Secernentea C24G6.2 36
  • 49.72 (n)
  • 42.19 (a)
ver-2 38
  • 39 (a)
R09D1.12 38
  • 45 (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

Selected 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
rs3690 -- 54,295,646(+) AACCA(A/C)GGCTG utr-variant-3-prime
rs869978 -- 54,273,849(+) AGTTA(C/T)GAATG intron-variant
rs890203 -- 54,231,238(-) TGATA(G/T)GGGCC intron-variant
rs950597 -- 54,284,745(-) taatc(C/T)ccagt intron-variant
rs1105825 -- 54,276,038(-) GACCT(C/T)AGGTT intron-variant

Relevant External Links for PDGFRA Gene

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

No data available for Structural Variations from Database of Genomic Variants (DGV) for PDGFRA Gene

Disorders for PDGFRA Gene

(2) OMIM Diseases for PDGFRA Gene (173490)

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}.

(94) Novoseek inferred disease relationships for PDGFRA Gene

Disease -log(P) Hits PubMed IDs
gastrointestinal stromal tumor 95.8 124
leukemia eosinophilic 87.3 9
hypereosinophilic syndrome 86.9 16
carney triad 82.4 4
idiopathic hypereosinophilic syndrome 73.9 4

Relevant External Links for PDGFRA

Genetic Association Database (GAD)
PDGFRA
Human Genome Epidemiology (HuGE) Navigator
PDGFRA
Tumor Gene Database (TGDB):
PDGFRA
genes like me logo Genes that share disorders with PDGFRA: view

Publications for PDGFRA Gene

  1. 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) 3 4 23 25
  2. Negative feedback regulation of human platelets via autocrine activation of the platelet-derived growth factor alpha-receptor. (PMID: 8188664) Vassbotn F.S. … Holmsen H. (J. Biol. Chem. 1994) 3 4 23
  3. Promoter haplotype combinations of the platelet-derived growth factor alpha-receptor gene predispose to human neural tube defects. (PMID: 11175793) Joosten P.H. … Van Zoelen E.J. (Nat. Genet. 2001) 3 23 49
  4. PDGFRA activating mutations in gastrointestinal stromal tumors. (PMID: 12522257) Heinrich M.C. … Fletcher J.A. (Science 2003) 3 4 23
  5. 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 D.G. (N. Engl. J. Med. 2003) 3 4 23

Products for PDGFRA Gene

Sources for PDGFRA Gene

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