NR2F1 Gene Summary [Human]
The protein encoded by this gene is a nuclear hormone receptor and transcriptional regulator. The encoded protein acts as a homodimer and binds to 5'-AGGTCA-3' repeats. Defects in this gene are a cause of Bosch-Boonstra optic atrophy syndrome (BBOAS). [provided by RefSeq, Apr 2014]
Details
| Type | Protein Coding |
| Official Symbol | NR2F1 |
| Official Name | nuclear receptor subfamily 2 group F member 1 [Source:HGNC Symbol;Acc:HGNC:7975] |
| Ensembl ID | ENSG00000175745 |
| Bio databases IDs | |
| Aliases | nuclear receptor subfamily 2 group F member 1 |
| Synonyms | BBOAS, BBSOAS, COUP-TF1, COUPTFA, COUP-TFI, EAR-3, ERBAL3, nuclear receptor subfamily 2 group F member 1, nuclear receptor subfamily 2, group F, member 1, SVP44, TCFCOUP1, TFCOUP1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NR2F1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- DNA binding domain
- nucleic acid binding
- DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers
- protein binding
- sequence-specific DNA binding
- nuclear receptor ligand binding domain
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- double-stranded DNA binding
- ligand-binding domain
- ligand-dependent nuclear receptor
- corepressor binding domain
- hinge domain
- zinc finger domain
- Ligand-binding domain of nuclear hormone receptor
- transcription factor activity
Pathways
Biological processes and signaling networks where the NR2F1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- uterine leiomyoma
- Bosch-Boonstra-Schaaf optic atrophy syndrome
- hereditary disorder
- leiomyomatosis
- atopic dermatitis
- pervasive developmental disorder
- androgenic alopecia
- pharmacologically induced seizure
- optic atrophy
role in cell
- apoptosis
- proliferation
- expression in
- migration
- differentiation
- invasion by
- production in
- quantity
- abnormal morphology
- number
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NR2F1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- signal transduction
- negative regulation of neuron projection development
- cell differentiation
- anatomical structure development
- nervous system development
- positive regulation of transcription from RNA polymerase II promoter
- intracellular receptor mediated signaling pathway
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- zinc ion binding
- protein binding
- ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding
- retinoic acid-responsive element binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription