Gene
nr2f1a
- ID
- ZDB-GENE-980526-115
- Name
- nuclear receptor subfamily 2, group F, member 1a
- Symbol
- nr2f1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable RNA polymerase II cis-regulatory region sequence-specific DNA binding activity and nuclear receptor activity. Acts upstream of or within circulatory system development and endothelial cell proliferation. Predicted to be located in nucleus. Is expressed in several structures, including basal plate midbrain region; cardiovascular system; mesoderm; nervous system; and pharyngeal arch. 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
- 29 figures from 14 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:76864 (16 images)
Wild Type Expression Summary
- All Phenotype Data
- 17 figures from 5 publications
- Cross-Species Comparison
- Alliance
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:Q06725
|
411 | ||||||
|
UniProtKB:A0A8M9Q2V3
|
235 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
nr2f1a-201
(1)
|
Ensembl | 2,994 nt |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-nr2f1a | polyclonal | Rabbit |
|
1 |
Plasmids
No data available