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EPO erythropoietin [ Homo sapiens (human) ]

Gene ID: 2056, updated on 26-Jul-2021

Summary

Official Symbol
EPOprovided by HGNC
Official Full Name
erythropoietinprovided by HGNC
Primary source
HGNC:HGNC:3415
See related
Ensembl:ENSG00000130427 MIM:133170
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
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Genomic context

See EPO in Genome Data Viewer
Location:
7q22.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (100720468..100723700)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (100318091..100321323)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene GRB10 interacting GYF protein 1 Neighboring gene CRISPRi-validated cis-regulatory element chr7.3567 Neighboring gene POP7 homolog, ribonuclease P/MRP subunit Neighboring gene zonadhesin 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
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available
Microvascular complications of diabetes 2
MedGen: C2675471 OMIM: 612623 GeneReviews: Not available
Compare labs
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
GeneReviews: Not available

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

Homology

Clone Names

  • MGC138142

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cytokine activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables cytokine activity IDA
Inferred from Direct Assay
more info
PubMed 
enables erythropoietin receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
Process Evidence Code Pubs
involved_in activation of protein kinase activity IEA
Inferred from Electronic Annotation
more info
 
involved_in acute-phase response IEA
Inferred from Electronic Annotation
more info
 
involved_in aging IEA
Inferred from Electronic Annotation
more info
 
involved_in apoptotic process 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
PubMed 
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 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 neuron death IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in peptidyl-serine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
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
PubMed 
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 transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
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
PubMed 
located_in extracellular space IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
erythropoietin
Names
epoetin

NCBI Reference Sequences (RefSeq)

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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
    UniProtKB/TrEMBL
    G9JKG7
    Related
    ENSP00000252723.2, ENST00000252723.3
    Conserved Domains (1) summary
    pfam00758
    Location:31192
    EPO_TPO; Erythropoietin/thrombopoietin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

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