NEUROD2 Gene Summary [Human]
This gene encodes a member of the neuroD family of neurogenic basic helix-loop-helix (bHLH) proteins. Expression of this gene can induce transcription from neuron-specific promoters, such as the GAP-43 promoter, which contain a specific DNA sequence known as an E-box. The product of the human gene can induce neurogenic differentiation in non-neuronal cells in Xenopus embryos, and is thought to play a role in the determination and maintenance of neuronal cell fates. [provided by RefSeq, Jul 2008]
Details
| Type | Retained Intron |
| Official Symbol | NEUROD2 |
| Official Name | neuronal differentiation 2 [Source:HGNC Symbol;Acc:HGNC:7763] |
| Ensembl ID | ENSG00000171532 |
| Bio databases IDs | |
| Aliases | neuronal differentiation 2, NeuroD-related factor |
| Synonyms | bHLHa1, DEE72, EIEE72, NDRF, neurogenic differentiation 2, neuronal differentiation 2 |
| 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 NEUROD2 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
- transcription regulator
- nucleic acid binding
- basic Helix Loop Helix (bHLH) domain superfamily
- protein binding
- sequence-specific DNA binding
- DNA binding
- Neuronal helix-loop-helix transcription factor
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- double-stranded DNA binding
- helix loop helix domain
- Helix-loop-helix DNA-binding domain
- transcription factor activity
- protein heterodimerization
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- early infantile epileptic encephalopathy type 72
- androgenic alopecia
role in cell
- expression in
- quantity
- differentiation
- loss
- formation
- neurogenesis
- response by
- targeting
- development
- fasciculation
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
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NEUROD2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of synapse maturation
- nervous system development
- positive regulation of neuron differentiation
- positive regulation of transcription from RNA polymerase II promoter
- positive regulation of sequence-specific DNA binding transcription factor activity
- associative learning
- cerebellar cortex development
- sensory organ development
- regulation of transcription from RNA polymerase II promoter
- behavioral fear response
- positive regulation of calcium-mediated signaling
- cellular response to calcium ion
- positive regulation of synaptic plasticity
- cellular response to electrical stimulus
- negative regulation of synapse maturation
- protein ubiquitination
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- protein heterodimerization activity
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- E-box binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity