NR2E3 Gene Summary [Human]
This protein is part of a large family of nuclear receptor transcription factors involved in signaling pathways. Nuclear receptors have been shown to regulate pathways involved in embryonic development, as well as in maintenance of proper cell function in adults. Members of this family are characterized by discrete domains that function in DNA and ligand binding. This gene encodes a retinal nuclear receptor that is a ligand-dependent transcription factor. Defects in this gene are a cause of enhanced S cone syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | NR2E3 |
| Official Name | nuclear receptor subfamily 2 group E member 3 [Source:HGNC Symbol;Acc:HGNC:7974] |
| Ensembl ID | ENSG00000278570 |
| Bio databases IDs | |
| Aliases | nuclear receptor subfamily 2 group E member 3 |
| Synonyms | A930035N01Rik, ESCS, nuclear receptor subfamily 2 group E member 3, nuclear receptor subfamily 2, group E, member 3, PNR, rd7, RP37 |
| 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 NR2E3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- nuclear receptor ligand binding domain
- DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers
- nucleic acid binding
- ligand-binding domain
- double-stranded DNA binding
- ligand-dependent nuclear receptor
- protein binding
- Ligand-binding domain of nuclear hormone receptor
- sequence-specific DNA binding
- transcription factor activity
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- enhanced S cone syndrome
- retinitis pigmentosa type 37
- retinal dystrophy
- retinitis pigmentosa
- retinal degeneration
- Goldmann-Favre syndrome
- clumped pigmentary retinal degeneration
- lung metastasis
- cone-rod dystrophy
- spinocerebellar ataxia type 7
role in cell
- expression in
- transactivation in
- migration
- quantity
- proliferation
- development
- function
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
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NR2E3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell proliferation
- retina development in camera-type eye
- signal transduction
- negative regulation of cell proliferation
- anatomical structure development
- eye photoreceptor cell development
- visual perception
- positive regulation of transcription from RNA polymerase II promoter
- phototransduction
- steroid hormone mediated signaling pathway
- negative regulation of transcription from RNA polymerase II promoter
- positive regulation of gene expression
- cell differentiation
- intracellular receptor mediated signaling pathway
Cellular Component
Where in the cell the gene product is active
- nucleus
- transcription factor complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- 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
- steroid hormone receptor activity
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding