ENSG00000134853


Homo sapiens

Features
Gene ID: ENSG00000134853
  
Biological name :PDGFRA
  
Synonyms : P16234 / PDGFRA / platelet derived growth factor receptor alpha
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: 1
Band: q12
Gene start: 54229097
Gene end: 54298247
  
Corresponding Affymetrix probe sets: 1554828_at (Human Genome U133 Plus 2.0 Array)   203131_at (Human Genome U133 Plus 2.0 Array)   211533_at (Human Genome U133 Plus 2.0 Array)   215305_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000425232
Ensembl peptide - ENSP00000424218
Ensembl peptide - ENSP00000425626
Ensembl peptide - ENSP00000426472
Ensembl peptide - ENSP00000425902
Ensembl peptide - ENSP00000425648
Ensembl peptide - ENSP00000257290
NCBI entrez gene - 5156     See in Manteia.
OMIM - 173490
RefSeq - XM_017008282
RefSeq - NM_001347829
RefSeq - NM_001347830
RefSeq - NM_006206
RefSeq - XM_005265743
RefSeq - XM_006714039
RefSeq - XM_006714041
RefSeq - XM_011534385
RefSeq - XM_017008280
RefSeq - XM_017008281
RefSeq - NM_001347828
RefSeq Peptide - NP_001334758
RefSeq Peptide - NP_001334759
RefSeq Peptide - NP_006197
RefSeq Peptide - NP_001334757
swissprot - D6RJH0
swissprot - P16234
swissprot - D6RIG5
swissprot - D6RG11
swissprot - D6RDX0
Ensembl - ENSG00000134853
  
Related genetic diseases (OMIM): 606764 - Gastrointestinal stromal tumor, somatic, 606764
  607685 - Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pdgfraENSDARG00000070494Danio rerio
 PDGFRAENSGALG00000013929Gallus gallus
 P26618ENSMUSG00000029231Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P09619 / PDGFRB / platelet derived growth factor receptor betaENSG0000011372144
KIT / P10721 / KIT proto-oncogene receptor tyrosine kinaseENSG0000015740431
CSF1R / P07333 / colony stimulating factor 1 receptorENSG0000018257830
FLT4 / P35916 / fms related tyrosine kinase 4ENSG0000003728029
FLT1 / P17948 / fms related tyrosine kinase 1ENSG0000010275529
KDR / P35968 / kinase insert domain receptorENSG0000012805228
FLT3 / P36888 / fms related tyrosine kinase 3ENSG0000012202526
RET / P07949 / ret proto-oncogeneENSG0000016573121
FGFR2 / P21802 / fibroblast growth factor receptor 2ENSG0000006646821
FGFR1 / P11362 / fibroblast growth factor receptor 1ENSG0000007778221
FGFR3 / P22607 / fibroblast growth factor receptor 3ENSG0000006807820
FGFR4 / P22455 / fibroblast growth factor receptor 4ENSG0000016086720


Protein motifs (from Interpro)
Interpro ID Name
 IPR000719  Protein kinase domain
 IPR001245  Serine-threonine/tyrosine-protein kinase, catalytic domain
 IPR001824  Tyrosine-protein kinase, receptor class III, conserved site
 IPR003598  Immunoglobulin subtype 2
 IPR003599  Immunoglobulin subtype
 IPR007110  Immunoglobulin-like domain
 IPR008266  Tyrosine-protein kinase, active site
 IPR011009  Protein kinase-like domain superfamily
 IPR013098  Immunoglobulin I-set
 IPR013151  Immunoglobulin
 IPR013783  Immunoglobulin-like fold
 IPR017441  Protein kinase, ATP binding site
 IPR020635  Tyrosine-protein kinase, catalytic domain
 IPR027290  Platelet-derived growth factor receptor alpha
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000165 MAPK cascade TAS
 biological_processGO:0001553 luteinization ISS
 biological_processGO:0001701 in utero embryonic development IEA
 biological_processGO:0001775 cell activation TAS
 biological_processGO:0002244 hematopoietic progenitor cell differentiation IEA
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0006935 chemotaxis IEA
 biological_processGO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IEA
 biological_processGO:0007204 positive regulation of cytosolic calcium ion concentration IMP
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0008210 estrogen metabolic process IEA
 biological_processGO:0008284 positive regulation of cell proliferation IMP
 biological_processGO:0008585 female gonad development IEA
 biological_processGO:0009653 anatomical structure morphogenesis IEA
 biological_processGO:0009887 animal organ morphogenesis IEA
 biological_processGO:0010544 negative regulation of platelet activation IDA
 biological_processGO:0010863 positive regulation of phospholipase C activity IMP
 biological_processGO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling TAS
 biological_processGO:0016032 viral process IEA
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0016477 cell migration IEA
 biological_processGO:0018108 peptidyl-tyrosine phosphorylation IDA
 biological_processGO:0023019 signal transduction involved in regulation of gene expression IEA
 biological_processGO:0030198 extracellular matrix organization IEA
 biological_processGO:0030324 lung development IEA
 biological_processGO:0030325 adrenal gland development IEA
 biological_processGO:0030335 positive regulation of cell migration IMP
 biological_processGO:0030539 male genitalia development IEA
 biological_processGO:0033327 Leydig cell differentiation IEA
 biological_processGO:0034614 cellular response to reactive oxygen species IDA
 biological_processGO:0035790 platelet-derived growth factor receptor-alpha signaling pathway IMP
 biological_processGO:0038091 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway IDA
 biological_processGO:0042060 wound healing ISS
 biological_processGO:0042475 odontogenesis of dentin-containing tooth IEA
 biological_processGO:0043552 positive regulation of phosphatidylinositol 3-kinase activity IMP
 biological_processGO:0045740 positive regulation of DNA replication IDA
 biological_processGO:0046777 protein autophosphorylation IDA
 biological_processGO:0046854 phosphatidylinositol phosphorylation IEA
 biological_processGO:0048008 platelet-derived growth factor receptor signaling pathway IEA
 biological_processGO:0048015 phosphatidylinositol-mediated signaling IMP
 biological_processGO:0048146 positive regulation of fibroblast proliferation IDA
 biological_processGO:0048557 embryonic digestive tract morphogenesis ISS
 biological_processGO:0048701 embryonic cranial skeleton morphogenesis ISS
 biological_processGO:0048704 embryonic skeletal system morphogenesis ISS
 biological_processGO:0048705 skeletal system morphogenesis IEA
 biological_processGO:0050920 regulation of chemotaxis IMP
 biological_processGO:0051897 positive regulation of protein kinase B signaling TAS
 biological_processGO:0055003 cardiac myofibril assembly ISS
 biological_processGO:0060021 roof of mouth development IEA
 biological_processGO:0060325 face morphogenesis IEA
 biological_processGO:0060326 cell chemotaxis IMP
 biological_processGO:0061298 retina vasculature development in camera-type eye ISS
 biological_processGO:0070374 positive regulation of ERK1 and ERK2 cascade IMP
 biological_processGO:0070527 platelet aggregation IMP
 biological_processGO:0071230 cellular response to amino acid stimulus IEA
 biological_processGO:0072277 metanephric glomerular capillary formation ISS
 biological_processGO:2000249 regulation of actin cytoskeleton reorganization TAS
 biological_processGO:2000587 negative regulation of platelet-derived growth factor receptor-beta signaling pathway TAS
 biological_processGO:2000739 regulation of mesenchymal stem cell differentiation IMP
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005737 cytoplasm ISS
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005887 integral component of plasma membrane IDA
 cellular_componentGO:0005902 microvillus IEA
 cellular_componentGO:0009897 external side of plasma membrane IEA
 cellular_componentGO:0009986 cell surface IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030054 cell junction IDA
 cellular_componentGO:0031226 intrinsic component of plasma membrane IDA
 cellular_componentGO:0032991 protein-containing complex IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004672 protein kinase activity IDA
 molecular_functionGO:0004713 protein tyrosine kinase activity IEA
 molecular_functionGO:0004714 transmembrane receptor protein tyrosine kinase activity IDA
 molecular_functionGO:0005018 platelet-derived growth factor alpha-receptor activity IMP
 molecular_functionGO:0005021 vascular endothelial growth factor-activated receptor activity IDA
 molecular_functionGO:0005088 Ras guanyl-nucleotide exchange factor activity TAS
 molecular_functionGO:0005161 platelet-derived growth factor receptor binding IPI
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0038085 vascular endothelial growth factor binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IDA
 molecular_functionGO:0046934 phosphatidylinositol-4,5-bisphosphate 3-kinase activity TAS
 molecular_functionGO:0048407 platelet-derived growth factor binding IDA


Pathways (from Reactome)
Pathway description
PIP3 activates AKT signaling
Downstream signal transduction
Signaling by PDGF
Constitutive Signaling by Aberrant PI3K in Cancer
RAF/MAP kinase cascade
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
Show

 HP:0000707 Neurological abnormality "An abnormality of the central or peripheral nervous system." [HPO:curators]
Show

 HP:0000953 Hyperpigmentation 
Show

 HP:0000988 Skin rash 
Show

 HP:0000989 Pruritus "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:curators]
Show

 HP:0001025 Urticaria 
Show

 HP:0001067 Neurofibromas 
Show

 HP:0001176 Large hands 
Show

 HP:0001392 Abnormality of the liver 
Show

 HP:0001428 Somatic mutation 
Show

 HP:0001723 Restrictive cardiomyopathy 
Show

 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
Show

 HP:0001880 Eosinophilia "Increased count of eosinophile granulocytes in the blood." [HPO:sdoelken]
Show

 HP:0001903 Anemia 
Show

 HP:0002015 Dysphagia "Difficulty in swallowing." [HPO:curators]
Show

 HP:0002017 Nausea and vomiting 
Show

 HP:0002019 Constipation 
Show

 HP:0002113 Pulmonary infiltrates 
Show

 HP:0002239 Gastrointestinal hemorrhage 
Show

 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
Show

 HP:0003326 Myalgia "A tendency to experience muscle pain." [HPO:curators]
Show

 HP:0003745 Sporadic 
Show

 HP:0004936 Venous thrombosis 
Show

 HP:0005214 Intestinal obstruction 
Show

 HP:0005547 Myeloproliferative disorder 
Show

 HP:0006685 Endocardial fibrosis "The presence of excessive connective tissue in the `endocardium` (FMA:7280)." [HPO:probinson]
Show

 HP:0006753 Increased gastric cancer 
Show

 HP:0007400 Irregular hyperpigmentation 
Show

 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
Show

 HP:0100242 Sarcoma "The presence of a `sarcoma` (MPATH:551)." [HPO:sdoelken]
Show

 HP:0100273 Neoplasia of the colon 
Show

 HP:0100723 Gastrointestinal stroma tumor 
Show

 HP:0100743 Neoplasm of the rectum 
Show

 HP:0100751 Esophageal neoplasm 
Show

 HP:0100833 Neoplasm of the small intestine "The presence of a `neoplasm` (MPATH:218) of the small intestine." [HPO:probinson]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000050820 BCAR1 / P56945 / BCAR1, Cas family scaffolding protein  / complex / reaction
 ENSG00000105647 O00459 / PIK3R2 / phosphoinositide-3-kinase regulatory subunit 2  / reaction / complex
 ENSG00000127947 PTPN12 / Q05209 / protein tyrosine phosphatase, non-receptor type 12  / reaction
 ENSG00000121879 P42336 / PIK3CA / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha  / complex / reaction
 ENSG00000167193 CRK / P46108 / CRK proto-oncogene, adaptor protein  / reaction / complex
 ENSG00000177885 GRB2 / P62993 / growth factor receptor bound protein 2  / reaction / complex
 ENSG00000158092 NCK1 / P16333 / NCK adaptor protein 1  / reaction / complex
 ENSG00000099942 CRKL / P46109 / CRK like proto-oncogene, adaptor protein  / complex / reaction
 ENSG00000071051 NCK2 / O43639 / NCK adaptor protein 2  / complex / reaction
 ENSG00000197461 PDGFA / P04085 / platelet derived growth factor subunit A  / complex
 ENSG00000100311 PDGFB / P01127 / platelet derived growth factor subunit B  / complex
 ENSG00000124181 PLCG1 / P19174 / phospholipase C gamma 1  / complex / reaction
 ENSG00000179295 PTPN11 / Q06124 / protein tyrosine phosphatase, non-receptor type 11  / complex / reaction
 ENSG00000113721 P09619 / PDGFRB / platelet derived growth factor receptor beta  / complex
 ENSG00000134853 P16234 / PDGFRA / platelet derived growth factor receptor alpha  / complex
 ENSG00000115904 SOS1 / Q07889 / SOS Ras/Rac guanine nucleotide exchange factor 1  / complex / reaction
 ENSG00000197122 SRC / P12931 / SRC proto-oncogene, non-receptor tyrosine kinase  / reaction / complex
 ENSG00000141738 GRB7 / Q14451 / growth factor receptor bound protein 7  / complex / reaction
 ENSG00000051382 P42338 / PIK3CB / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta  / complex / reaction
 ENSG00000145675 P27986 / PIK3R1 / phosphoinositide-3-kinase regulatory subunit 1  / reaction / complex
 ENSG00000107263 Q13905 / RAPGEF1 / Rap guanine nucleotide exchange factor 1  / complex / reaction






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr