ATOH7 Gene Summary [Human]
This intronless gene encodes a member of the basic helix-loop-helix family of transcription factors, with similarity to Drosophila atonal gene that controls photoreceptor development. Studies in mice suggest that this gene plays a central role in retinal ganglion cell and optic nerve formation. Mutations in this gene are associated with nonsyndromic congenital retinal nonattachment. [provided by RefSeq, Dec 2011]
Details
| Type | Protein Coding |
| Official Symbol | ATOH7 |
| Official Name | atonal bHLH transcription factor 7 [Source:HGNC Symbol;Acc:HGNC:13907] |
| Ensembl ID | ENSG00000179774 |
| Bio databases IDs | |
| Aliases | atonal bHLH transcription factor 7 |
| Synonyms | atonal bHLH transcription factor 7, bHLHa13, Math5, NCRNA, PHPVAR, RNANC |
| 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 ATOH7 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 factor activity, sequence-specific DNA binding
- transcription regulator
- nucleic acid binding
- double-stranded DNA binding
- basic Helix Loop Helix (bHLH) domain superfamily
- helix loop helix domain
- protein binding
- Helix-loop-helix DNA-binding domain
- sequence-specific DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
disease
- open-angle glaucoma
- diabetic nephropathy
- nonsyndromic congenital retinal nonattachment
role in cell
- differentiation
- quantity
- formation
- number
- migration
- development
- branching
- branching in
- guidance
- pruning in
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
- cytosol
- nucleoplasm
- chromatin
- perikaryon
- axons
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ATOH7 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neural retina development
- neuron fate commitment
- entrainment of circadian clock by photoperiod
- response to auditory stimulus
- positive regulation of transcription from RNA polymerase II promoter
- circadian rhythm
- sensory organ development
- regulation of transcription from RNA polymerase II promoter
- optic nerve development
Cellular Component
Where in the cell the gene product is active
- nucleus
- perikaryon
- chromatin
- axon
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- protein binding
- transcription regulatory region sequence-specific DNA binding
- protein dimerization activity
- E-box binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity