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EPO erythropoietin [ Homo sapiens (human) ]

Gene ID: 2056, updated on 3-Jun-2018
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; 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
See EPO in Genome Data Viewer
Location:
7q22.1
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 RNA, 7SL, cytoplasmic 750, pseudogene

  • 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
DIAMOND-BLACKFAN ANEMIA-LIKE
MedGen: CN873436 OMIM: 617911 GeneReviews: Not available
not available
ERYTHROCYTOSIS, FAMILIAL, 5
MedGen: CN873435 OMIM: 617907 GeneReviews: Not available
not available
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
cytokine activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytokine activity IDA
Inferred from Direct Assay
more info
PubMed 
erythropoietin receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
erythropoietin-mediated signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
hemoglobin biosynthetic process IBA
Inferred from Biological aspect of Ancestor
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 by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleate erythrocyte development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptidyl-serine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of ERK1 and ERK2 cascade IEA
Inferred from Electronic Annotation
more info
 
positive regulation of Ras protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
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 hypoxia IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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_021471.2 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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

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