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
- Enables nuclear steroid receptor activity and steroid hormone binding activity. Acts upstream of or within cellular response to cortisol stimulus; multicellular organismal response to stress; and positive regulation of glucocorticoid receptor signaling pathway. Predicted to be located in nucleus. Is expressed in several structures, including blood; heart; liver; male organism; and pleuroperitoneal region. Used to study autism spectrum disorder. Human ortholog(s) of this gene implicated in autosomal dominant pseudohypoaldosteronism type 1 and pseudohypoaldosteronism. 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