ENSG00000187266


Homo sapiens

Features
Gene ID: ENSG00000187266
  
Biological name :EPOR
  
Synonyms : EPOR / erythropoietin receptor / P19235
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: p13.2
Gene start: 11377205
Gene end: 11384342
  
Corresponding Affymetrix probe sets: 209962_at (Human Genome U133 Plus 2.0 Array)   209963_s_at (Human Genome U133 Plus 2.0 Array)   215054_at (Human Genome U133 Plus 2.0 Array)   216999_at (Human Genome U133 Plus 2.0 Array)   37986_at (Human Genome U133 Plus 2.0 Array)   396_f_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000468187
Ensembl peptide - ENSP00000222139
Ensembl peptide - ENSP00000466784
Ensembl peptide - ENSP00000467230
Ensembl peptide - ENSP00000467809
NCBI entrez gene - 2057     See in Manteia.
OMIM - 133171
RefSeq - NM_000121
RefSeq Peptide - NP_000112
swissprot - K7EN47
swissprot - K7EP50
swissprot - K7ERB5
swissprot - P19235
Ensembl - ENSG00000187266
  
Related genetic diseases (OMIM): 133100 - [Erythrocytosis, familial, 1], 133100
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
 eporENSDARG00000090834Danio rerio
 EporENSMUSG00000006235Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MPL / P40238 / MPL proto-oncogene, thrombopoietin receptorENSG0000011740016


Protein motifs (from Interpro)
Interpro ID Name
 IPR003528  Long hematopoietin receptor, single chain, conserved site
 IPR003961  Fibronectin type III
 IPR009167  Erythropoietin receptor
 IPR013783  Immunoglobulin-like fold
 IPR015152  Growth hormone/erythropoietin receptor, ligand binding
 IPR036116  Fibronectin type III superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007420 brain development IEA
 biological_processGO:0007507 heart development IEA
 biological_processGO:0019221 cytokine-mediated signaling pathway IEA
 biological_processGO:0038162 erythropoietin-mediated signaling pathway IEA
 biological_processGO:0046697 decidualization IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0004888 transmembrane signaling receptor activity IEA
 molecular_functionGO:0004896 cytokine receptor activity IEA
 molecular_functionGO:0004900 erythropoietin receptor activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042802 identical protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000421 Epistaxis 
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:0001901 Erythrocytosis 
Show

 HP:0001907 Thromboembolism 
Show

 HP:0002027 Abdominal pain 
Show

 HP:0002315 Headache "Cephalgia, or pain in the head originating from the cerebral vault." [HPO:curators]
Show

 HP:0002321 Vertigo "An abnormal sensation of spinning while the body is actually stationary." [HPO:curators]
Show

 HP:0002829 Arthralgia 
Show

 HP:0002875 Exertional dyspnea 
Show

 HP:0004936 Venous thrombosis 
Show

 HP:0011902 Abnormal hemoglobin "Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes." [HPO:probinson]
Show

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

 HP:0012735 Cough "A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation." [HPO:probinson]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000197943 PLCG2 / P16885 / phospholipase C gamma 2  / complex / reaction
 ENSG00000173757 P51692 / STAT5B / signal transducer and activator of transcription 5B  / reaction / complex
 ENSG00000124181 PLCG1 / P19174 / phospholipase C gamma 1  / complex / reaction
 ENSG00000115904 SOS1 / Q07889 / SOS Ras/Rac guanine nucleotide exchange factor 1  / reaction / complex
 ENSG00000126561 P42229 / STAT5A / signal transducer and activator of transcription 5A  / reaction / complex
 ENSG00000130427 EPO / P01588 / erythropoietin  / reaction / complex
 ENSG00000187266 EPOR / P19235 / erythropoietin receptor  / complex
 ENSG00000177885 GRB2 / P62993 / growth factor receptor bound protein 2  / reaction / complex
 ENSG00000109458 GAB1 / Q13480 / GRB2 associated binding protein 1  / reaction / complex
 ENSG00000141968 VAV1 / P15498 / vav guanine nucleotide exchange factor 1  / reaction / complex
 ENSG00000185950 IRS2 / Q9Y4H2 / insulin receptor substrate 2  / complex
 ENSG00000254087 LYN / P07948 / LYN proto-oncogene, Src family tyrosine kinase  / complex
 ENSG00000099942 CRKL / P46109 / CRK like proto-oncogene, adaptor protein  / complex / reaction
 ENSG00000107263 Q13905 / RAPGEF1 / Rap guanine nucleotide exchange factor 1  / complex / reaction
 ENSG00000121879 P42336 / PIK3CA / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha  / complex / reaction
 ENSG00000141506 PIK3R5 / Q8WYR1 / phosphoinositide-3-kinase regulatory subunit 5  / 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  / complex / reaction
 ENSG00000105851 P48736 / PIK3CG / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma  / reaction / complex
 ENSG00000171608 O00329 / PIK3CD / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta  / reaction / complex
 ENSG00000160691 SHC1 / P29353 / SHC adaptor protein 1  / reaction / complex
 ENSG00000096968 JAK2 / O60674 / Janus kinase 2  / complex






 

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