HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
EPO
erythropoietin
Chromosome 7 Β· 7q22.1
NCBI Gene: 2056Ensembl: ENSG00000130427.3HGNC: HGNC:3415UniProt: G9JKG7
474PubMed Papers
23Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Highly Studied
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytokine activityerythropoietin receptor bindinghormone activityprotein bindingprimary familial polycythemia due to EPO receptor mutationBlackfan-Diamond anemiadiabetic retinopathyanemia (phenotype)
✦AI Summary

EPO (erythropoietin) is a glycoprotein hormone that serves as the primary regulator of red blood cell production and maintenance of physiological erythrocyte mass 1. The hormone is predominantly produced by specialized renal cells, with production rates determined by oxygen demands relative to oxygen supply 1. EPO expression is regulated by hypoxia-inducible factors (HIFs), particularly HIF-1, which bind to consensus sequences in the EPO gene enhancer under hypoxic conditions 23. Mechanistically, EPO binds to its homodimeric receptor (EPOR) on erythroid progenitors, triggering receptor dimerization and activation of intracellular antiapoptotic proteins, kinases, and transcription factors 34. This signaling pathway promotes erythroid progenitor expansion and terminal maturation while preventing apoptosis 5. Clinically, recombinant human EPO has proven highly effective in treating anemia associated with chr7 renal failure and shows promise in other anemic conditions 13. Recent evidence suggests EPO may have extraerythropoietic functions, including neuroprotective and anti-inflammatory properties, though clinical significance remains under investigation 53. Disease associations include familial erythrocytosis and diabetic complications, with certain EPO gene polymorphisms linked to diabetic retinopathy risk 6.

Sources cited
1
EPO is a glycoprotein hormone regulating red blood cell production, produced by renal cells based on oxygen demand
PMID: 8527225
2
EPO gene expression is induced by hypoxia-inducible factors, particularly HIF-1
PMID: 11950137
3
EPO signaling involves receptor dimerization and activation of antiapoptotic pathways; has neuroprotective properties
PMID: 15468961
4
EPO receptor is a 66 kDa membrane protein that forms dimers for high-affinity binding
PMID: 1453011
5
EPO regulates erythroid cell apoptosis and has extraerythropoietic immune-related properties
PMID: 28629524
6
EPO gene polymorphisms are associated with diabetic retinopathy risk
PMID: 35677638
Disease Associationsβ“˜23
primary familial polycythemia due to EPO receptor mutationOpen Targets
0.71Strong
Blackfan-Diamond anemiaOpen Targets
0.51Moderate
diabetic retinopathyOpen Targets
0.42Moderate
anemia (phenotype)Open Targets
0.39Weak
autosomal dominant secondary polycythemiaOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.18Weak
type 2 diabetes mellitusOpen Targets
0.14Weak
diabetes mellitusOpen Targets
0.12Weak
polycythemiaOpen Targets
0.12Weak
neoplasmOpen Targets
0.12Weak
chronic kidney diseaseOpen Targets
0.12Weak
experimental autoimmune encephalomyelitisOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.11Weak
acute kidney injuryOpen Targets
0.11Weak
Alzheimer diseaseOpen Targets
0.10Weak
malariaOpen Targets
0.10Suggestive
anemiaOpen Targets
0.10Suggestive
SepsisOpen Targets
0.10Suggestive
infectionOpen Targets
0.10Suggestive
strokeOpen Targets
0.10Suggestive
Diamond-Blackfan anemia-likeUniProt
Erythrocytosis, familial, 5UniProt
Microvascular complications of diabetes 2UniProt
Pathogenic Variants3
NM_000799.4(EPO):c.530G>A (p.Arg177Gln)Pathogenic
Diamond-Blackfan anemia-like
β˜†β˜†β˜†β˜†2025β†’ Residue 177
NM_000799.4(EPO):c.33del (p.Trp11fs)Pathogenic
Erythrocytosis, familial, 5
β˜†β˜†β˜†β˜†2018β†’ Residue 11
NM_000799.4(EPO):c.20del (p.Pro7fs)Pathogenic
Erythrocytosis, familial, 5
β˜†β˜†β˜†β˜†2018β†’ Residue 7
View on ClinVar β†—
Related Genes
CNTFProtein interaction100%CSF2Protein interaction100%CSF2RBProtein interaction100%CSF3RProtein interaction100%CSH2Protein interaction100%JAK2Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Ovary
1%
Brain
0%
Lung
0%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
EPOCNTFCSF2CSF2RBCSF3RCSH2JAK2
PROTEIN STRUCTURE
Preparing viewer…
PDB1EER Β· 1.90 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.82LoF Tolerant
pLIβ“˜
0.03Tolerant
Observed/Expected LoF0.51 [0.32–0.82]
RankingsWhere EPO stands among ~20K protein-coding genes
  • #565of 20,598
    Most Researched474 Β· top 5%
  • #3,900of 5,498
    Most Pathogenic Variants3
  • #6,933of 17,882
    Most Constrained (LOEUF)0.82
Genes detectedEPO
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Erythropoietin.
PMID: 27348128
Front Horm Res Β· 2016
1.00
2
Erythropoietin.
PMID: 8527225
Annu Rev Nutr Β· 1995
0.90
3
Biology of erythropoietin.
PMID: 11950137
Adv Exp Med Biol Β· 2001
0.80
4
Erythropoietin delivery through kidney organoids engineered with an episomal DNA vector.
PMID: 40221815
Stem Cell Res Ther Β· 2025
0.72
5
Endogenous Erythropoietin.
PMID: 28629524
Vitam Horm Β· 2017
0.70