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    EPO erythropoietin [ Homo sapiens (human) ]

    Gene ID: 2056, updated on 17-Aug-2017
    Official Symbol
    EPOprovided by HGNC
    Official Full Name
    erythropoietinprovided by HGNC
    Primary source
    HGNC:HGNC:3415
    See related
    Ensembl:ENSG00000130427 MIM:133170; Vega:OTTHUMG00000152121
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EP; MVCD2
    Summary
    This gene encodes a secreted, glycosylated cytokine composed of four alpha helical bundles. The encoded protein is mainly synthesized in the kidney, secreted into the blood plasma, and binds to the erythropoietin receptor to promote red blood cell production, or erythropoiesis, in the bone marrow. Expression of this gene is upregulated under hypoxic conditions, in turn leading to increased erythropoiesis and enhanced oxygen-carrying capacity of the blood. Expression of this gene has also been observed in brain and in the eye, and elevated expression levels have been observed in diabetic retinopathy and ocular hypertension. Recombinant forms of the encoded protein exhibit neuroprotective activity against a variety of potential brain injuries, as well as antiapoptotic functions in several tissue types, and have been used in the treatment of anemia and to enhance the efficacy of cancer therapies. [provided by RefSeq, Aug 2017]
    Orthologs
    Location:
    7q22.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (100720800..100723700)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (100318423..100321323)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene GRB10 interacting GYF protein 1 Neighboring gene POP7 homolog, ribonuclease P/MRP subunit Neighboring gene zonadhesin (gene/pseudogene) Neighboring gene EPH receptor B4 Neighboring gene uncharacterized LOC107986831

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Microvascular complications of diabetes 2
    MedGen: C2675471 OMIM: 612623 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    NHGRI GWA Catalog
    Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env The cytokine erythropoietin (EPO) is clinically used to treat anemia but has also been found to prevent gp120-induced neuronal death PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC138142

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    erythropoietin receptor binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    hormone activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    activation of protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    acute-phase response IEA
    Inferred from Electronic Annotation
    more info
     
    aging IEA
    Inferred from Electronic Annotation
    more info
     
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    blood circulation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular hyperosmotic response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    embryo implantation IEA
    Inferred from Electronic Annotation
    more info
     
    erythrocyte differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    erythrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    erythrocyte maturation IEA
    Inferred from Electronic Annotation
    more info
     
    erythropoietin-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    hemoglobin biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of calcium ion transport into cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cation channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of erythrocyte apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of neuron death IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    peptidyl-serine phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of DNA replication IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of ERK1 and ERK2 cascade IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of Ras protein signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of activated T cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of neuron projection development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of tyrosine phosphorylation of STAT protein IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of transcription from RNA polymerase II promoter in response to hypoxia TAS
    Traceable Author Statement
    more info
     
    response to axon injury IEA
    Inferred from Electronic Annotation
    more info
     
    response to dexamethasone IEA
    Inferred from Electronic Annotation
    more info
     
    response to electrical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    response to estrogen IEA
    Inferred from Electronic Annotation
    more info
     
    response to hyperoxia IEA
    Inferred from Electronic Annotation
    more info
     
    response to interleukin-1 IEA
    Inferred from Electronic Annotation
    more info
     
    response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    response to salt stress IEA
    Inferred from Electronic Annotation
    more info
     
    response to testosterone IEA
    Inferred from Electronic Annotation
    more info
     
    response to vitamin A IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cell body IEA
    Inferred from Electronic Annotation
    more info
     
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    erythropoietin
    Names
    epoetin

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_021471.1 RefSeqGene

      Range
      5001..7901
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000799.3NP_000790.2  erythropoietin precursor

      See identical proteins and their annotated locations for NP_000790.2

      Status: REVIEWED

      Source sequence(s)
      AC009488, S65458, X02157
      Consensus CDS
      CCDS5705.1
      UniProtKB/Swiss-Prot
      P01588
      UniProtKB/TrEMBL
      G9JKG7
      Related
      ENSP00000252723.2, OTTHUMP00000201234, ENST00000252723.2
      Conserved Domains (1) summary
      pfam00758
      Location:31192
      EPO_TPO; Erythropoietin/thrombopoietin

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      100720800..100723700
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      100248723..100251623
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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