ENSG00000130427


Homo sapiens

Features
Gene ID: ENSG00000130427
  
Biological name :EPO
  
Synonyms : EPO / erythropoietin / P01588
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: 1
Band: q22.1
Gene start: 100720800
Gene end: 100723700
  
Corresponding Affymetrix probe sets: 207257_at (Human Genome U133 Plus 2.0 Array)   217254_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000252723
NCBI entrez gene - 2056     See in Manteia.
OMIM - 133170
RefSeq - NM_000799
RefSeq Peptide - NP_000790
swissprot - G9JKG7
swissprot - P01588
Ensembl - ENSG00000130427
  
Related genetic diseases (OMIM): 612623 - {Microvascular complications of diabetes 2}, 612623
  617907 - Erythrocytosis, familial, 5, 617907
  617911 - ?Diamond-Blackfan anemia-like, 617911
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
 epoaENSDARG00000055163Danio rerio
 epobENSDARG00000100737Danio rerio
 EpoENSMUSG00000029711Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR001323  Erythropoietin/thrombopoeitin
 IPR003013  Erythropoietin
 IPR009079  Four-helical cytokine-like, core
 IPR019767  Erythropoietin/thrombopoeitin, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IMP
 biological_processGO:0001666 response to hypoxia IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IEA
 biological_processGO:0006915 apoptotic process IEA
 biological_processGO:0006953 acute-phase response IEA
 biological_processGO:0007165 signal transduction NAS
 biological_processGO:0007566 embryo implantation IEA
 biological_processGO:0007568 aging IEA
 biological_processGO:0007584 response to nutrient IEA
 biological_processGO:0008015 blood circulation NAS
 biological_processGO:0008283 cell proliferation IMP
 biological_processGO:0008284 positive regulation of cell proliferation IEA
 biological_processGO:0009651 response to salt stress IEA
 biological_processGO:0010469 regulation of signaling receptor activity IEA
 biological_processGO:0010523 negative regulation of calcium ion transport into cytosol IDA
 biological_processGO:0010976 positive regulation of neuron projection development IEA
 biological_processGO:0018105 peptidyl-serine phosphorylation IEA
 biological_processGO:0030218 erythrocyte differentiation IDA
 biological_processGO:0032147 activation of protein kinase activity IEA
 biological_processGO:0032496 response to lipopolysaccharide IEA
 biological_processGO:0033033 negative regulation of myeloid cell apoptotic process IEA
 biological_processGO:0033189 response to vitamin A IEA
 biological_processGO:0033574 response to testosterone IEA
 biological_processGO:0038162 erythropoietin-mediated signaling pathway IMP
 biological_processGO:0042104 positive regulation of activated T cell proliferation IEA
 biological_processGO:0042531 positive regulation of tyrosine phosphorylation of STAT protein IDA
 biological_processGO:0042541 hemoglobin biosynthetic process IEA
 biological_processGO:0043066 negative regulation of apoptotic process IEA
 biological_processGO:0043249 erythrocyte maturation IEA
 biological_processGO:0043627 response to estrogen IEA
 biological_processGO:0045666 positive regulation of neuron differentiation IEA
 biological_processGO:0045740 positive regulation of DNA replication IDA
 biological_processGO:0045860 positive regulation of protein kinase activity IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IDA
 biological_processGO:0046579 positive regulation of Ras protein signal transduction IDA
 biological_processGO:0048678 response to axon injury IEA
 biological_processGO:0051602 response to electrical stimulus IEA
 biological_processGO:0055093 response to hyperoxia IEA
 biological_processGO:0061418 regulation of transcription from RNA polymerase II promoter in response to hypoxia TAS
 biological_processGO:0070374 positive regulation of ERK1 and ERK2 cascade IEA
 biological_processGO:0070555 response to interleukin-1 IEA
 biological_processGO:0071474 cellular hyperosmotic response IDA
 biological_processGO:0071548 response to dexamethasone IEA
 biological_processGO:1901215 negative regulation of neuron death IEA
 biological_processGO:1902219 negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress IDA
 biological_processGO:1902251 negative regulation of erythrocyte apoptotic process IDA
 biological_processGO:2001258 negative regulation of cation channel activity IDA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0044297 cell body IEA
 molecular_functionGO:0005125 cytokine activity IDA
 molecular_functionGO:0005128 erythropoietin receptor binding IMP
 molecular_functionGO:0005179 hormone activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0030295 protein kinase activator activity IEA


Pathways (from Reactome)
Pathway description
Regulation of gene expression by Hypoxia-inducible Factor


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


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






 

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