Gene
nr0b1
- ID
- ZDB-GENE-070130-1
- Name
- nuclear receptor subfamily 0, group B, member 1
- Symbol
- nr0b1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to enable transcription corepressor activity. Acts upstream of or within negative regulation of male gonad development and water homeostasis. Predicted to be active in cytoplasm and nucleus. Is expressed in several structures, including central nervous system; digestive system; fin; interrenal primordium; and reproductive system. Human ortholog(s) of this gene implicated in 46,XY sex reversal 2 and X-linked adrenal hypoplasia congenita. Orthologous to human NR0B1 (nuclear receptor subfamily 0 group B member 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 17 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- dq017613 (7 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| 46,XY sex reversal 2 | Alliance | 46XY sex reversal 2, dosage-sensitive | 300018 |
| X-linked adrenal hypoplasia congenita | Alliance | Adrenal hypoplasia, congenital | 300200 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Nuclear hormone receptor | Nuclear hormone receptor, ligand-binding domain | Nuclear hormone receptor-like domain superfamily | Nuclear receptor subfamily 0 group B member 1/2 |
|---|---|---|---|---|---|
|
UniProtKB:A3KNP5
|
264 |
Interactions and Pathways
Plasmids
No data available