BHLHE22 Gene Summary [Human]
This gene encodes a protein that belongs to the basic helix-loop-helix (bHLH) family of transcription factors that regulate cell fate determination, proliferation, and differentiation. A similar protein in mouse is required for the development of the dorsal cochlear nuclei, and is thought to play a role in in the differentiation of neurons involved in sensory input. The mouse protein also functions in retinogenesis. [provided by RefSeq, Oct 2016]
Details
| Type | Protein Coding |
| Official Symbol | BHLHE22 |
| Official Name | basic helix-loop-helix family member e22 [Source:HGNC Symbol;Acc:HGNC:11963] |
| Ensembl ID | ENSG00000180828 |
| Bio databases IDs | |
| Aliases | basic helix-loop-helix family member e22 |
| Synonyms | basic helix-loop-helix family member e22, basic helix-loop-helix family, member e22, Beta3, Beta3a, BHLHB5, CAGL85, TNRC20 |
| 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 BHLHE22 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
- double-stranded DNA binding
- basic Helix Loop Helix (bHLH) domain superfamily
- helix loop helix domain
- chromatin binding
- protein binding
- Helix-loop-helix DNA-binding domain
- sequence-specific DNA binding
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
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 BHLHE22 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neuron fate commitment
- positive regulation of transcription from RNA polymerase II promoter
- sensory organ development
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 dimerization activity
- E-box binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity