Gene
nr2e3
- ID
- ZDB-GENE-041114-63
- Name
- nuclear receptor subfamily 2, group E, member 3
- Symbol
- nr2e3 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Predicted to have DNA-binding transcription factor activity and RNA polymerase II regulatory region sequence-specific DNA binding activity. Involved in pineal gland development. Localizes to nucleus. Human ortholog(s) of this gene implicated in enhanced S-cone syndrome and retinitis pigmentosa 37. Is expressed in several structures, including diencephalon; optic vesicle; presumptive diencephalon; presumptive neural retina; and retina. Orthologous to human NR2E3 (nuclear receptor subfamily 2 group E member 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 42 figures from 22 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:103631 (20 images)
- MGC:103631 (26 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| enhanced S-cone syndrome | Alliance | Enhanced S-cone syndrome | 268100 |
| retinitis pigmentosa 37 | Alliance | Retinitis pigmentosa 37 | 611131 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000536 | Nuclear hormone receptor, ligand-binding domain |
| Domain | IPR001628 | Zinc finger, nuclear hormone receptor-type |
| Family | IPR001723 | Nuclear hormone receptor |
| Family | IPR050274 | Nuclear hormone receptor family NR2 subfamily |
| Homologous_superfamily | IPR013088 | Zinc finger, NHR/GATA-type |
| Homologous_superfamily | IPR035500 | Nuclear hormone receptor-like domain superfamily |
Domain Details Per Protein
| Protein | Length | Nuclear hormone receptor | Nuclear hormone receptor family NR2 subfamily | Nuclear hormone receptor, ligand-binding domain | Nuclear hormone receptor-like domain superfamily | Zinc finger, NHR/GATA-type | Zinc finger, nuclear hormone receptor-type |
|---|---|---|---|---|---|---|---|
|
UniProtKB:Q5U3F3
|
419 |
Interactions and Pathways
No data available
Plasmids