U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    EPO erythropoietin [ Homo sapiens (human) ]

    Gene ID: 2056, updated on 17-Jun-2024

    Summary

    Official Symbol
    EPOprovided by HGNC
    Official Full Name
    erythropoietinprovided by HGNC
    Primary source
    HGNC:HGNC:3415
    See related
    Ensembl:ENSG00000130427 MIM:133170; AllianceGenome:HGNC:3415
    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; DBAL; ECYT5; 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]
    Expression
    Biased expression in liver (RPKM 1.5), endometrium (RPKM 0.5) and 6 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See EPO in Genome Data Viewer
    Location:
    7q22.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (100720468..100723700)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (101960533..101963765)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (100318091..100321323)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18459 Neighboring gene GRB10 interacting GYF protein 1 Neighboring gene CRISPRi-validated cis-regulatory element chr7.3567 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100292979-100293782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26382 Neighboring gene POP7 homolog, ribonuclease P/MRP subunit Neighboring gene ReSE screen-validated silencer GRCh37_chr7:100322454-100322688 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26383 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26384 Neighboring gene zonadhesin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100382347-100382846 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr7:100391649-100392196 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26385 Neighboring gene Sharpr-MPRA regulatory region 9506 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100399088-100399791 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100399792-100400494 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100402349-100403064 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:100403701-100404900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100412721-100413220 Neighboring gene EPH receptor B4 Neighboring gene RNA, 7SL, cytoplasmic 750, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Diamond-Blackfan anemia-like
    MedGen: C4693556 OMIM: 617911 GeneReviews: Not available
    Compare labs
    Erythrocytosis, familial, 5
    MedGen: C4693552 OMIM: 617907 GeneReviews: Not available
    Compare labs
    Microvascular complications of diabetes, susceptibility to, 2
    MedGen: C2675471 OMIM: 612623 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC138142

    Gene Ontology Provided by GOA

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

    General protein information

    Preferred Names
    erythropoietin
    Names
    epoetin

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_021471.2 RefSeqGene

      Range
      4669..7901
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000799.4NP_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, Q2M2L6, Q549U2, Q9UDZ0, Q9UEZ5, Q9UHA0
      UniProtKB/TrEMBL
      B7ZKK5, G9JKG7, T2DKX4, U3MHQ9
      Related
      ENSP00000252723.2, ENST00000252723.3
      Conserved Domains (1) summary
      pfam00758
      Location:31192
      EPO_TPO; Erythropoietin/thrombopoietin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      100720468..100723700
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      101960533..101963765
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)