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Aliases for EPO Gene

Aliases for EPO Gene

  • Erythropoietin 2 3 5
  • Epoetin 3 4
  • MVCD2 3
  • EP 3

External Ids for EPO Gene

Previous GeneCards Identifiers for EPO Gene

  • GC07P098853
  • GC07P099916
  • GC07P099929
  • GC07P099963
  • GC07P100156
  • GC07P100318
  • GC07P094949

Summaries for EPO Gene

Entrez Gene Summary for EPO Gene

  • This gene is a member of the EPO/TPO family and encodes a secreted, glycosylated cytokine composed of four alpha helical bundles. The protein is found in the plasma and regulates red cell production by promoting erythroid differentiation and initiating hemoglobin synthesis. This protein also has neuroprotective activity against a variety of potential brain injuries and antiapoptotic functions in several tissue types. [provided by RefSeq, Jul 2008]

GeneCards Summary for EPO Gene

EPO (Erythropoietin) is a Protein Coding gene. Diseases associated with EPO include Microvascular Complications Of Diabetes 2 and Pure Red-Cell Aplasia. Among its related pathways are Development EPO-induced Jak-STAT pathway and Kit Receptor Signaling Pathway. GO annotations related to this gene include hormone activity and erythropoietin receptor binding.

UniProtKB/Swiss-Prot for EPO Gene

  • Erythropoietin is the principal hormone involved in the regulation of erythrocyte differentiation and the maintenance of a physiological level of circulating erythrocyte mass.

Gene Wiki entry for EPO Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPO Gene

Genomics for EPO Gene

Regulatory Elements for EPO Gene

Enhancers for EPO Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around EPO on UCSC Golden Path with GeneCards custom track

Promoters for EPO Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EPO on UCSC Golden Path with GeneCards custom track

Genomic Location for EPO Gene

100,720,800 bp from pter
100,723,700 bp from pter
2,901 bases
Plus strand

Genomic View for EPO Gene

Genes around EPO on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPO Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPO Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPO Gene

Proteins for EPO Gene

  • Protein details for EPO Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q2M2L6
    • Q549U2
    • Q9UDZ0
    • Q9UEZ5
    • Q9UHA0

    Protein attributes for EPO Gene

    193 amino acids
    Molecular mass:
    21307 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for EPO Gene

neXtProt entry for EPO Gene

Proteomics data for EPO Gene at MOPED

Post-translational modifications for EPO Gene

  • Glycosylation at Asn 51, Asn 65, Asn 110, and Ser 153
  • Modification sites at PhosphoSitePlus

Other Protein References for EPO Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Protein Products

No data available for DME Specific Peptides for EPO Gene

Domains & Families for EPO Gene

Gene Families for EPO Gene

Suggested Antigen Peptide Sequences for EPO Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the EPO/TPO family.
  • Belongs to the EPO/TPO family.
genes like me logo Genes that share domains with EPO: view

Function for EPO Gene

Molecular function for EPO Gene

GENATLAS Biochemistry:
erythropoietin,46kDa,expressed in liver and kidney,stimulating cellular differentiation of bone marrow cells at an early stage,activating a voltage independent calcium channel dependent on tyrosine phosphorylation
UniProtKB/Swiss-Prot Function:
Erythropoietin is the principal hormone involved in the regulation of erythrocyte differentiation and the maintenance of a physiological level of circulating erythrocyte mass.

LifeMap Function Summary for EPO Gene

Gene Ontology (GO) - Molecular Function for EPO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005128 erythropoietin receptor binding IEA --
genes like me logo Genes that share ontologies with EPO: view
genes like me logo Genes that share phenotypes with EPO: view

Animal Models for EPO Gene

MGI Knock Outs for EPO:

Animal Model Products

miRNA for EPO Gene

miRTarBase miRNAs that target EPO

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EPO Gene

Localization for EPO Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPO Gene


Subcellular locations from

Jensen Localization Image for EPO Gene COMPARTMENTS Subcellular localization image for EPO gene
Compartment Confidence
extracellular 5
cytosol 4
cytoskeleton 2
mitochondrion 2
nucleus 2
plasma membrane 2
endoplasmic reticulum 1

No data available for Gene Ontology (GO) - Cellular Components for EPO Gene

Pathways & Interactions for EPO Gene

genes like me logo Genes that share pathways with EPO: view

SIGNOR curated interactions for EPO Gene


Gene Ontology (GO) - Biological Process for EPO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IMP 16497104
GO:0001666 response to hypoxia IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA --
GO:0006915 apoptotic process IEA --
GO:0006953 acute-phase response IEA --
genes like me logo Genes that share ontologies with EPO: view

Drugs & Compounds for EPO Gene

(102) Drugs for EPO Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Iron Approved Pharma 1055
Benzocaine Approved Pharma 1733
Darbepoetin alfa Approved, Investigational Pharma 162
Epoetin alfa Approved Pharma 632
Warfarin Approved Pharma 435

(59) Additional Compounds for EPO Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with EPO: view

Transcripts for EPO Gene

mRNA/cDNA for EPO Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(12) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EPO Gene

Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EPO Gene

No ASD Table

Relevant External Links for EPO Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EPO Gene

mRNA expression in normal human tissues for EPO Gene

mRNA differential expression in normal tissues according to GTEx for EPO Gene

This gene is overexpressed in Liver (x36.9) and Pancreas (x5.4).

SOURCE GeneReport for Unigene cluster for EPO Gene Hs.2303

mRNA Expression by UniProt/SwissProt for EPO Gene

Tissue specificity: Produced by kidney or liver of adult mammals and by liver of fetal or neonatal mammals.
genes like me logo Genes that share expression patterns with EPO: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for EPO Gene

Orthologs for EPO Gene

This gene was present in the common ancestor of chordates.

Orthologs for EPO Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia EPO 35
  • 85.69 (n)
  • 80.1 (a)
EPO 36
  • 80 (a)
(Canis familiaris)
Mammalia EPO 35
  • 86.75 (n)
  • 81.33 (a)
EPO 36
  • 76 (a)
(Mus musculus)
Mammalia Epo 35
  • 80.52 (n)
  • 80.12 (a)
Epo 16
Epo 36
  • 79 (a)
(Pan troglodytes)
Mammalia EPO 35
  • 99.48 (n)
  • 99.48 (a)
EPO 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Epo 35
  • 79.92 (n)
  • 82.53 (a)
(Monodelphis domestica)
Mammalia EPO 36
  • 55 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia epo 35
  • 49.56 (n)
  • 39.47 (a)
(Danio rerio)
Actinopterygii epo 35
  • 48.83 (n)
  • 38.85 (a)
epo 36
  • 36 (a)
Species with no ortholog for EPO:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EPO Gene

Gene Tree for EPO (if available)
Gene Tree for EPO (if available)

Paralogs for EPO Gene

No data available for Paralogs for EPO Gene

Variants for EPO Gene

Sequence variations from dbSNP and Humsavar for EPO Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
VAR_009871 A hepatocellular carcinoma
rs1126887 -- 100,722,835(+) CTCTG(C/G)GAGCC reference, missense
rs1617640 -- 100,719,675(-) CCAGA(G/T)GAGTG upstream-variant-2KB
rs6977067 -- 100,719,022(+) gcggg(C/T)tgctg upstream-variant-2KB
rs7789679 -- 100,722,598(+) TTGGG(A/G)CTGCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EPO Gene

Variant ID Type Subtype PubMed ID
esv2734888 CNV Deletion 23290073
nsv831072 CNV Loss 17160897
nsv888791 CNV Loss 21882294
nsv470381 CNV Loss 18288195
nsv8184 CNV Loss 18304495
nsv888792 CNV Loss 21882294
nsv888796 CNV Loss 21882294

Variation tolerance for EPO Gene

Residual Variation Intolerance Score: 76.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.18; 23.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EPO Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPO Gene

Disorders for EPO Gene

MalaCards: The human disease database

(93) MalaCards diseases for EPO Gene - From: OMIM, ClinVar, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
microvascular complications of diabetes 2
  • diabetic nephropathy
pure red-cell aplasia
  • primary red cell aplasia
chronic kidney failure
  • chronic renal disease
  • uremia of renal origin
deficiency anemia
  • anemia
- elite association - COSMIC cancer census association via MalaCards
Search EPO in MalaCards View complete list of genes associated with diseases


  • Microvascular complications of diabetes 2 (MVCD2) [MIM:612623]: Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for EPO

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with EPO: view

No data available for Genatlas for EPO Gene

Publications for EPO Gene

  1. Promoter polymorphism of the erythropoietin gene in severe diabetic eye and kidney complications. (PMID: 18458324) Tong Z. … Zhang K. (Proc. Natl. Acad. Sci. U.S.A. 2008) 3 4 48 67
  2. Antiapoptotic properties of recombinant human erythropoietin protects against tubular cyclosporine toxicity. (PMID: 19766721) Pallet N. … Martinez F. (Pharmacol. Res. 2010) 3 23
  3. Expression of HIF-1 alpha, VEGF and EPO in peripheral blood from patients with two cardiac abnormalities associated with hypoxia. (PMID: 19804771) Lemus-Varela M.L. … Beas-ZA!rate C. (Clin. Biochem. 2010) 3 23
  4. Erythropoietin concentration in serum and cerebrospinal fluid of patients with amyotrophic lateral sclerosis. (PMID: 20012656) Janik P. … Niebroj-Dobosz I. (J Neural Transm 2010) 3 23
  5. Anti-erythropoietin antibodies followed by endogenous erythropoietin production in a dialysis patient. (PMID: 20091055) Mattison P. … Silverstein D.M. (Pediatr. Nephrol. 2010) 3 23

Products for EPO Gene

Sources for EPO Gene