Gene
nr3c2
- ID
- ZDB-GENE-060531-23
- Name
- nuclear receptor subfamily 3, group C, member 2
- Symbol
- nr3c2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Exhibits steroid hormone receptor activity. Involved in multicellular organismal response to stress. Predicted to localize to nucleus. Used to study autism spectrum disorder. Human ortholog(s) of this gene implicated in autosomal dominant pseudohypoaldosteronism type 1 and pseudohypoaldosteronism. Is expressed in several structures, including blood; eye; heart; liver; and pleuroperitoneal region. Orthologous to human NR3C2 (nuclear receptor subfamily 3 group C member 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 24 figures from 14 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- dq017617 (7 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant pseudohypoaldosteronism type 1 | Alliance | Pseudohypoaldosteronism type I, autosomal dominant | 177735 |
| Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy | 605115 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| autism spectrum disorder | nr3c2ct867/ct867 (AB/TL) | standard conditions | Ruzzo et al., 2019 |
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 | IPR050200 | Nuclear hormone receptor family NR3 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 NR3 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:A6YIH7
|
970 |
Interactions and Pathways
No data available
Plasmids
No data available