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 enable RNA polymerase II cis-regulatory region sequence-specific DNA binding activity and nuclear receptor activity. Involved in photoreceptor cell maintenance and retinal rod cell differentiation. Acts upstream of or within pineal gland development. Located in nucleus. Is expressed in several structures, including diencephalon; optic vesicle; presumptive diencephalon; presumptive neural retina; and retina. Human ortholog(s) of this gene implicated in enhanced S-cone syndrome and retinitis pigmentosa 37. 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