Version: 8.0.0Date: Tue Jan 28 2025
Gene
EPO
- Species
- Homo sapiens
- Symbol
- EPO
- Name
- erythropoietin
- Synonyms
- DBAL
- ECYT5
- Biotype
- protein coding gene
- Automated Description
- Enables cytokine activity; erythropoietin receptor binding activity; and hormone activity. Involved in several processes, including negative regulation of apoptotic process; negative regulation of cation transmembrane transport; and regulation of DNA-templated transcription. Located in cell surface. Is active in extracellular space. Implicated in several diseases, including artery disease (multiple); diabetic angiopathy; familial erythrocytosis 5; ischemia (multiple); and neurodegenerative disease (multiple). Biomarker of several diseases, including amyotrophic lateral sclerosis; breast cancer; eye disease (multiple); glucose metabolism disease (multiple); and hepatocellular carcinoma.
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR10370
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr7:100720468...100723700 + (3.23 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.