Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 2056
Gene Summary                KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol EPO   Gene   UCSC   Ensembl
Aliases DBAL, ECYT5, EP, MVCD2
Gene name erythropoietin
Alternate names erythropoietin, epoetin,
Gene location 7q22.1 (100720799: 100723699)     Exons: 5     NC_000007.14
Gene summary(Entrez) 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]
OMIM 133170

Diseases

Associated diseases References
Endometriosis INFBASE: 11331642

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
27541444 Endometrio
sis (Perit
oneal)


Epo-R
EPO
Show abstract
11331642 Endometrio
sis

60 (42 patients
with endometri
osis, 18 contro
ls without endo
metriosis)
EPO
Show abstract