Gene
nr2f1b
- ID
- ZDB-GENE-040426-1438
- Name
- nuclear receptor subfamily 2, group F, member 1b
- Symbol
- nr2f1b Nomenclature History
- Previous Names
-
- nr2f1l
- COUPTFalpha-B (1)
- zgc:65854
- zgc:77353
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Predicted to enable RNA polymerase II cis-regulatory region sequence-specific DNA binding activity and nuclear receptor activity. Involved in angioblast cell migration. Acts upstream of or within venous blood vessel development. Predicted to be located in nucleus. Is expressed in several structures, including basal plate midbrain region; midbrain neural keel; nervous system; pharyngeal arch; and vasculature. Human ortholog(s) of this gene implicated in Bosch-Boonstra-Schaaf optic atrophy syndrome. Orthologous to human NR2F1 (nuclear receptor subfamily 2 group F member 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 22 figures from 10 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:65854 (30 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Bosch-Boonstra-Schaaf optic atrophy syndrome | Alliance | Bosch-Boonstra-Schaaf optic atrophy syndrome | 615722 |
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:A0A8M9QGF2
|
388 | ||||||
|
UniProtKB:Q6PH18
|
389 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
nr2f1b-201
(1)
|
Ensembl | 2,786 nt |
Interactions and Pathways
No data available
Plasmids
No data available