Gene
epor
- ID
- ZDB-GENE-071116-1
- Name
- erythropoietin receptor
- Symbol
- epor Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to enable cytokine receptor activity. Acts upstream of or within hemopoiesis and pronephros development. Predicted to be located in membrane. Predicted to be active in external side of plasma membrane. Is expressed in several structures, including digestive system; hematopoietic cell; hematopoietic system; kidney; and lateral plate mesoderm. Human ortholog(s) of this gene implicated in anemia; familial erythrocytosis 1; high grade glioma; polycythemia; and systemic lupus erythematosus. Orthologous to human EPOR (erythropoietin receptor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 12 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| familial erythrocytosis 1 | Alliance | [Erythrocytosis, familial, 1] | 133100 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Erythropoietin receptor | Fibronectin type III | Fibronectin type III superfamily | Growth hormone/erythropoietin receptor, ligand binding | Immunoglobulin-like fold |
|---|---|---|---|---|---|---|
|
UniProtKB:Q2VBQ8
|
509 |
Interactions and Pathways
No data available
Plasmids
No data available