NR2E1 Gene Summary [Human]
The protein encoded by this gene is an orphan receptor involved in retinal development. The encoded protein also regulates adult neural stem cell proliferation and may be involved in control of aggressive behavior. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
Details
| Type | Protein Coding |
| Official Symbol | NR2E1 |
| Official Name | nuclear receptor subfamily 2 group E member 1 [Source:HGNC Symbol;Acc:HGNC:7973] |
| Ensembl ID | ENSG00000112333 |
| Bio databases IDs | |
| Aliases | nuclear receptor subfamily 2 group E member 1, tailless |
| Synonyms | fierce, frc, Mtl1, Mtll, nuclear receptor subfamily 2 group E member 1, nuclear receptor subfamily 2, group E, member 1, tailless, TLL, TLX, XTLL |
| 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 NR2E1 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
- steroid hormone receptor
- DNA binding domain
- DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers
- nucleic acid binding
- enzyme binding
- histone deacetylase binding
- protein binding
- sequence-specific DNA binding
- nuclear receptor ligand binding domain
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- ligand-binding domain
- double-stranded DNA binding
- ligand-dependent nuclear receptor
- IXXLL motif
- hinge domain
- histone deacetylase binding domain
- Ligand-binding domain of nuclear hormone receptor
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- glioma formation
- castration refractory prostate cancer
- bipolar disorder
- glioblastoma
- glioblastoma cancer
- retinal dystrophy
- exhaustion
role in cell
- proliferation
- formation
- expression in
- apoptosis
- quantity
- cell cycle progression
- growth
- formation in
- differentiation
- generation
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
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NR2E1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- layer formation in cerebral cortex
- retina development in camera-type eye
- regulation of timing of neuron differentiation
- nervous system development
- negative regulation of neuron differentiation
- anatomical structure development
- positive regulation of cell cycle
- negative regulation of astrocyte differentiation
- positive regulation of transcription from RNA polymerase II promoter
- steroid hormone mediated signaling pathway
- olfactory bulb development
- forebrain generation of neurons
- positive regulation of angiogenesis
- regulation of dendrite morphogenesis
- cerebral cortex neuron differentiation
- negative regulation of transcription from RNA polymerase II promoter
- neuroblast proliferation
- aggressive behavior
- angiogenesis
- apoptotic process
- somatic stem cell maintenance
- negative regulation of neural precursor cell proliferation
- long-term synaptic potentiation
- intracellular receptor mediated signaling pathway
- social behavior
- astrocyte cell migration
- astrocyte differentiation
- regulation of cell migration involved in sprouting angiogenesis
- amygdala development
- positive regulation of neuroblast proliferation
- visual perception
- dentate gyrus development
- anterior commissure morphogenesis
- behavioral fear response
- positive regulation of stem cell proliferation
- negative regulation of apoptotic process
- cell fate commitment
- cell differentiation
- extracellular matrix organization
Cellular Component
Where in the cell the gene product is active
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- protein binding
- histone deacetylase 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
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity