NEUROG3 Gene Summary [Human]
The protein encoded by this gene is a basic helix-loop-helix (bHLH) transcription factor involved in neurogenesis. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of congenital malabsorptive diarrhea 4 (DIAR4).[provided by RefSeq, May 2010]
Details
| Type | Protein Coding |
| Official Symbol | NEUROG3 |
| Official Name | neurogenin 3 [Source:HGNC Symbol;Acc:HGNC:13806] |
| Ensembl ID | ENSG00000122859 |
| Bio databases IDs | |
| Aliases | neurogenin 3 |
| Synonyms | Atoh5, bHLHa7, Math4B, Neurogenin3, NGN-3, Relax |
| 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 NEUROG3 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
- transcription activation domain
- chromatin binding
- protein binding
- sequence-specific DNA binding
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- double-stranded DNA binding
- helix loop helix domain
- helix-loop-helix domain
- Helix-loop-helix DNA-binding domain
- 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
- non-insulin-dependent diabetes mellitus
- congenital malabsorptive diarrhea type 4
- Waldenström macroglobulinemia
- diabetes mellitus
- hyperglycemia
- congenital malabsorptive diarrhea
- weight gain
- ketonemia
- infection by HIV-1
role in cell
- proliferation
- quantity
- expression in
- accumulation in
- differentiation
- activation in
- loss
- senescence
- stimulation
- morphogenesis
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
- intracellular space
- cytosol
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NEUROG3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- nervous system development
- peripheral nervous system development
- positive regulation of neuron differentiation
- positive regulation of transcription from RNA polymerase II promoter
- regulation of dendrite morphogenesis
- sensory organ development
- spinal cord development
- negative regulation of transcription from RNA polymerase II promoter
- epithelial cell differentiation
- central nervous system development
- forebrain development
- hindbrain development
- positive regulation of transcription, DNA-dependent
- transdifferentiation
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- chromatin DNA binding
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- protein dimerization activity
- 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
- E-box binding