Gene
epoa
- ID
- ZDB-GENE-061218-3
- Name
- erythropoietin a
- Symbol
- epoa Nomenclature History
- Previous Names
-
- epo
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to have erythropoietin receptor binding activity and hormone activity. Involved in nucleate erythrocyte development; pronephros development; and response to activity. Localizes to perinuclear region of cytoplasm. Human ortholog(s) of this gene implicated in several diseases, including artery disease (multiple); diabetic angiopathy; familial erythrocytosis 5; ischemia (multiple); and neurodegenerative disease (multiple). Is expressed in several structures, including brain; digestive system; eye; heart; and immune system. Orthologous to human EPO (erythropoietin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 24 figures from 17 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 10 figures from 3 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| familial erythrocytosis 5 | Alliance | Erythrocytosis, familial, 5 | 617907 |
| ?Diamond-Blackfan anemia-like | 617911 | ||
| {Microvascular complications of diabetes 2} | 612623 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Erythropoietin | Erythropoietin/thrombopoietin | Four-helical cytokine-like, core |
|---|---|---|---|---|
|
UniProtKB:B1N8Y2
|
171 | |||
|
UniProtKB:B1N8Y1
|
186 | |||
|
UniProtKB:B3DI26
|
183 | |||
|
UniProtKB:Q2XNF5
|
183 |
Interactions and Pathways
No data available
Plasmids