EPO erythropoietin [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 7q22.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (100720468..100723700)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (101960533..101963765)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (100318091..100321323)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Erythropoietin enhances iron bioavailability in HepG2 cells by downregulating hepcidin through mTOR, C/EBPalpha and HIF-1alpha.
Title: Erythropoietin enhances iron bioavailability in HepG2 cells by downregulating hepcidin through mTOR, C/EBPα and HIF-1α.
EPO promotes the progression of rheumatoid arthritis by inducing desialylation via increasing the expression of neuraminidase 3.
Title: EPO promotes the progression of rheumatoid arthritis by inducing desialylation via increasing the expression of neuraminidase 3.
Erythropoietin alleviates lung ischemia-reperfusion injury by activating the FGF23/FGFR4/ERK signaling pathway.
Title: Erythropoietin alleviates lung ischemia-reperfusion injury by activating the FGF23/FGFR4/ERK signaling pathway.
Serum erythropoietin in acute ischemic stroke: preliminary findings.
Title: Serum erythropoietin in acute ischemic stroke: preliminary findings.
[Related factors of endogenous erythropoietin and its association with 10-year risks of cardiovascular disease in a community-based Chinese study].
Title: [Related factors of endogenous erythropoietin and its association with 10-year risks of cardiovascular disease in a community-based Chinese study].
Serum Erythropoietin level in anemia of elderly with unclear etiology.
Title: Serum Erythropoietin level in anemia of elderly with unclear etiology.
Changes in serum hypoxia-inducible factor-1alpha and erythropoietin in allergic rhinitis patients: Correlation with the Th inflammatory profile and disease comorbidities.
Title: Changes in serum hypoxia-inducible factor-1α and erythropoietin in allergic rhinitis patients: Correlation with the Th inflammatory profile and disease comorbidities.
EPO rs1617640 A>C is a Protective Factor for Chronic Obstructive Pulmonary Disease: A Case Control Study.
Title: EPO rs1617640 A>C is a Protective Factor for Chronic Obstructive Pulmonary Disease: A Case Control Study.
Erythropoietin induces odontoblastic differentiation of human-derived pulp stem cells via EphB4-Mediated MAPK signaling pathway.
Title: Erythropoietin induces odontoblastic differentiation of human-derived pulp stem cells via EphB4-Mediated MAPK signaling pathway.
Placental Erythroferrone and Erythropoietin mRNA Expression is not Associated with Maternal or Neonatal Iron Status in Adolescents Carrying Singletons and Adult Women Carrying Multiples.
Title: Placental Erythroferrone and Erythropoietin mRNA Expression is not Associated with Maternal or Neonatal Iron Status in Adolescents Carrying Singletons and Adult Women Carrying Multiples.

Submit: New GeneRIF Correction See all GeneRIFs (402)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

EPO (e-PCR)
- UniSTS:253974

EPO (e-PCR)
- UniSTS:29222

NoName (e-PCR)
- UniSTS:483133

GDB:178386 (e-PCR)
- UniSTS:154996

SHGC-12325 (e-PCR)
- UniSTS:37062

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	IDA Inferred from Direct Assay more info	PubMed
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 cell surface receptor signaling pathway via STAT	IDA Inferred from Direct Assay 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	IDA Inferred from Direct Assay 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 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 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
is_active_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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.