Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PDGFRA (platelet-derived growth factor receptor, alpha polypeptide)

Identity

Other namesCD140A
PDGFR-2
PDGFR2
RHEPDGFRA
HGNC (Hugo) PDGFRA
LocusID (NCBI) 5156
Location 4q12
Location_base_pair Starts at 55095264 and ends at 55164412 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Breakpoints

 

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias 11q23ChildAMLID1615 11q23ID1030 11q23secondLeukID1131 t1119ELLID1029 t0812q24q22ID2057
t0814ID1050 8p11inMPDID1091 inv8p11q13ID1189 PrimarCutanALCLID2118 t0708q34p11ID1409
t0809p12q33ID1129 t0811p11p15ID1200 t0811p12p15ID1521

Other Solid tumors implicated (Data extracted from papers in the Atlas)

Solid Tumors AmeloblastomID5945 MedulloblastomaID5065 rhab5004

External links

Nomenclature
HGNC (Hugo)PDGFRA   8803
Cards
Entrez_Gene (NCBI)PDGFRA  5156  platelet-derived growth factor receptor, alpha polypeptide
GeneCards (Weizmann)PDGFRA
Ensembl (Hinxton)ENSG00000134853 [Gene_View]  chr4:55095264-55164412 [Contig_View]  PDGFRA [Vega]
ICGC DataPortalENSG00000134853
cBioPortalPDGFRA
AceView (NCBI)PDGFRA
Genatlas (Paris)PDGFRA
WikiGenes5156
SOURCE (Princeton)NM_006206
Genomic and cartography
GoldenPath (UCSC)PDGFRA  -  4q12   chr4:55095264-55164412 +  4q12   [Description]    (hg19-Feb_2009)
EnsemblPDGFRA - 4q12 [CytoView]
Mapping of homologs : NCBIPDGFRA [Mapview]
OMIM173490   606764   607685   
Gene and transcription
Genbank (Entrez)AA599881 AA625689 AK308353 AK311006 AK316578
RefSeq transcript (Entrez)NM_006206
RefSeq genomic (Entrez)AC_000136 NC_000004 NC_018915 NG_009250 NT_022853 NW_001838913 NW_004929319
Consensus coding sequences : CCDS (NCBI)PDGFRA
Cluster EST : UnigeneHs.74615 [ NCBI ]
CGAP (NCI)Hs.74615
Alternative Splicing : Fast-db (Paris)GSHG0033967
Alternative Splicing GalleryENSG00000134853
Gene ExpressionPDGFRA [ NCBI-GEO ]     PDGFRA [ SEEK ]   PDGFRA [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP16234 (Uniprot)
NextProtP16234  [Medical]
With graphics : InterProP16234
Splice isoforms : SwissVarP16234 (Swissvar)
Catalytic activity : Enzyme2.7.10.1 [ Enzyme-Expasy ]   2.7.10.12.7.10.1 [ IntEnz-EBI ]   2.7.10.1 [ BRENDA ]   2.7.10.1 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)IG_LIKE (PS50835)    PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_TYR (PS00109)    RECEPTOR_TYR_KIN_III (PS00240)   
Domains : Interpro (EBI)Ig-like_dom [organisation]   Ig-like_fold [organisation]   Ig_I-set [organisation]   Ig_sub [organisation]   Ig_sub2 [organisation]   Kinase-like_dom [organisation]   PDGFRA [organisation]   Prot_kinase_dom [organisation]   Protein_kinase_ATP_BS [organisation]   Ser-Thr/Tyr_kinase_cat_dom [organisation]   Tyr_kinase_AS [organisation]   Tyr_kinase_cat_dom [organisation]   Tyr_kinase_CSF1/PDGF_rcpt [organisation]   Tyr_kinase_rcpt_3_CS [organisation]  
Related proteins : CluSTrP16234
Domain families : Pfam (Sanger)I-set (PF07679)    Pkinase_Tyr (PF07714)   
Domain families : Pfam (NCBI)pfam07679    pfam07714   
Domain families : Smart (EMBL)IG (SM00409)  IGc2 (SM00408)  TyrKc (SM00219)  
DMDM Disease mutations5156
Blocks (Seattle)P16234
PDB (SRS)1GQ5   
PDB (PDBSum)1GQ5   
PDB (IMB)1GQ5   
PDB (RSDB)1GQ5   
Human Protein AtlasENSG00000134853 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP16234
HPRD01429
IPIIPI00027721   IPI00336178   IPI00967402   IPI00967879   IPI00967081   IPI00967704   IPI00966241   
Protein Interaction databases
DIP (DOE-UCLA)P16234
IntAct (EBI)P16234
FunCoupENSG00000134853
BioGRIDPDGFRA
InParanoidP16234
Interologous Interaction database P16234
IntegromeDBPDGFRA
STRING (EMBL)PDGFRA
Ontologies - Pathways
Ontology : AmiGOluteinization  in utero embryonic development  cell activation  transmembrane receptor protein tyrosine kinase activity  platelet-derived growth factor alpha-receptor activity  platelet-derived growth factor alpha-receptor activity  vascular endothelial growth factor-activated receptor activity  platelet-derived growth factor receptor binding  protein binding  ATP binding  nucleus  cytoplasm  plasma membrane  integral component of plasma membrane  epidermal growth factor receptor signaling pathway  positive regulation of cytosolic calcium ion concentration  estrogen metabolic process  positive regulation of cell proliferation  fibroblast growth factor receptor signaling pathway  external side of plasma membrane  negative regulation of platelet activation  positive regulation of phospholipase C activity  positive regulation of phosphatidylinositol 3-kinase signaling  membrane  viral process  peptidyl-tyrosine phosphorylation  signal transduction involved in regulation of gene expression  extracellular matrix organization  lung development  adrenal gland development  positive regulation of cell migration  positive regulation of cell migration  male genitalia development  intrinsic component of plasma membrane  Leydig cell differentiation  platelet-derived growth factor receptor-alpha signaling pathway  vascular endothelial growth factor binding  positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway  Fc-epsilon receptor signaling pathway  wound healing  odontogenesis of dentin-containing tooth  protein homodimerization activity  positive regulation of phosphatidylinositol 3-kinase activity  innate immune response  positive regulation of DNA replication  protein autophosphorylation  platelet-derived growth factor receptor signaling pathway  neurotrophin TRK receptor signaling pathway  phosphatidylinositol-mediated signaling  phosphatidylinositol-mediated signaling  positive regulation of fibroblast proliferation  platelet-derived growth factor binding  platelet-derived growth factor binding  embryonic digestive tract morphogenesis  embryonic cranial skeleton morphogenesis  embryonic skeletal system morphogenesis  regulation of chemotaxis  cardiac myofibril assembly  palate development  face morphogenesis  cell chemotaxis  retina vasculature development in camera-type eye  positive regulation of ERK1 and ERK2 cascade  platelet aggregation  cellular response to amino acid stimulus  metanephric glomerular capillary formation  regulation of actin cytoskeleton reorganization  regulation of mesenchymal stem cell differentiation  
Ontology : EGO-EBIluteinization  in utero embryonic development  cell activation  transmembrane receptor protein tyrosine kinase activity  platelet-derived growth factor alpha-receptor activity  platelet-derived growth factor alpha-receptor activity  vascular endothelial growth factor-activated receptor activity  platelet-derived growth factor receptor binding  protein binding  ATP binding  nucleus  cytoplasm  plasma membrane  integral component of plasma membrane  epidermal growth factor receptor signaling pathway  positive regulation of cytosolic calcium ion concentration  estrogen metabolic process  positive regulation of cell proliferation  fibroblast growth factor receptor signaling pathway  external side of plasma membrane  negative regulation of platelet activation  positive regulation of phospholipase C activity  positive regulation of phosphatidylinositol 3-kinase signaling  membrane  viral process  peptidyl-tyrosine phosphorylation  signal transduction involved in regulation of gene expression  extracellular matrix organization  lung development  adrenal gland development  positive regulation of cell migration  positive regulation of cell migration  male genitalia development  intrinsic component of plasma membrane  Leydig cell differentiation  platelet-derived growth factor receptor-alpha signaling pathway  vascular endothelial growth factor binding  positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway  Fc-epsilon receptor signaling pathway  wound healing  odontogenesis of dentin-containing tooth  protein homodimerization activity  positive regulation of phosphatidylinositol 3-kinase activity  innate immune response  positive regulation of DNA replication  protein autophosphorylation  platelet-derived growth factor receptor signaling pathway  neurotrophin TRK receptor signaling pathway  phosphatidylinositol-mediated signaling  phosphatidylinositol-mediated signaling  positive regulation of fibroblast proliferation  platelet-derived growth factor binding  platelet-derived growth factor binding  embryonic digestive tract morphogenesis  embryonic cranial skeleton morphogenesis  embryonic skeletal system morphogenesis  regulation of chemotaxis  cardiac myofibril assembly  palate development  face morphogenesis  cell chemotaxis  retina vasculature development in camera-type eye  positive regulation of ERK1 and ERK2 cascade  platelet aggregation  cellular response to amino acid stimulus  metanephric glomerular capillary formation  regulation of actin cytoskeleton reorganization  regulation of mesenchymal stem cell differentiation  
Pathways : BIOCARTARac 1 cell motility signaling pathway [Genes]    Erk1/Erk2 Mapk Signaling pathway [Genes]    PDGF Signaling Pathway [Genes]    CBL mediated ligand-induced downregulation of EGF receptors [Genes]    Phospholipids as signalling intermediaries [Genes]    Role of PI3K subunit p85 in regulation of Actin Organization and Cell Migration [Genes]   
Pathways : KEGGMAPK signaling pathway    Ras signaling pathway    Rap1 signaling pathway    Calcium signaling pathway    Cytokine-cytokine receptor interaction    Endocytosis    PI3K-Akt signaling pathway    Focal adhesion    Gap junction    Regulation of actin cytoskeleton    HTLV-I infection    Pathways in cancer    MicroRNAs in cancer    Glioma    Prostate cancer    Melanoma   
Protein Interaction DatabasePDGFRA
Wikipedia pathwaysPDGFRA
Gene fusion - rearrangments
Rearrangement : TICdbBCR [22q11.23]  -  PDGFRA [2p23.2]
Rearrangement : TICdbCDK5RAP2 [9q33.2]  -  PDGFRA [9q34.12]
Rearrangement : TICdbETV6 [12p13.2]  -  PDGFRA [2q31.1]
Rearrangement : TICdbFIP1L1 [4q12]  -  PDGFRA [7q22.3]
Rearrangement : TICdbKIF5B [10p11.22]  -  PDGFRA [1p32.3]
Rearrangement : TICdbSTRN [2p22.2]  -  PDGFRA [21q22.2]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)PDGFRA
snp3D : Map Gene to Disease5156
SNP (GeneSNP Utah)PDGFRA
SNP : HGBasePDGFRA
Genetic variants : HAPMAPPDGFRA
Exome VariantPDGFRA
1000_GenomesPDGFRA 
ICGC programENSG00000134853 
Cancer Gene: CensusPDGFRA 
Somatic Mutations in Cancer : COSMICPDGFRA 
CONAN: Copy Number AnalysisPDGFRA 
Mutations and Diseases : HGMDPDGFRA
Mutations and Diseases : intOGenPDGFRA
Genomic VariantsPDGFRA  PDGFRA [DGVbeta]
dbVarPDGFRA
ClinVarPDGFRA
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM173490    606764    607685   
MedgenPDGFRA
GENETestsPDGFRA
Disease Genetic AssociationPDGFRA
Huge Navigator PDGFRA [HugePedia]  PDGFRA [HugeCancerGEM]
General knowledge
Homologs : HomoloGenePDGFRA
Homology/Alignments : Family Browser (UCSC)PDGFRA
Phylogenetic Trees/Animal Genes : TreeFamPDGFRA
Chemical/Protein Interactions : CTD5156
Chemical/Pharm GKB GenePA33147
Drug Sensitivity PDGFRA
Clinical trialPDGFRA
Cancer Resource (Charite)ENSG00000134853
Other databases
Probes
Litterature
PubMed349 Pubmed reference(s) in Entrez
CoreMinePDGFRA
iHOPPDGFRA
OncoSearchPDGFRA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 16:59:15 CEST 2014

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