BHLHE22 basic helix-loop-helix family member e22
Gene ID: 27319, updated on 18-Sep-2024Gene type: protein coding
Also known as: Beta3; BHLHB5; Beta3a; CAGL85; TNRC20
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- Go to complete Gene record for BHLHE22
- Go to Variation Viewer for BHLHE22 variants
Summary
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]
Genomic context
- Location:
- 8q12.3
- Sequence:
- Chromosome: 8; NC_000008.11 (64580365..64583627)
- Total number of exons:
- 1
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for BHLHE22 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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