BHLHE23 basic helix-loop-helix family member e23
Gene ID: 128408, updated on 28-Oct-2024Gene type: protein coding
Also known as: BETA4; BHLHB4; Beta3b; bA305P22.3
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- Go to complete Gene record for BHLHE23
- Go to Variation Viewer for BHLHE23 variants
Summary
This gene encodes a member of the basic helix-loop-helix transcription factor family. Members of this family contain two highly conserved and functionally distinct domains: the basic domain targets sequence-specific DNA binding, while the helix-loop-helix domain facilitates protein interaction. Studies of a related gene in mouse suggest that the encoded protein may function as a transcriptional repressor in the pancreas and brain, and that it is required for normal retinal function. [provided by RefSeq, May 2013]
Genomic context
- Location:
- 20q13.33
- Sequence:
- Chromosome: 20; NC_000020.11 (63005927..63006964, complement)
- Total number of exons:
- 1
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for BHLHE23 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
- Variation ViewerRelated Variants
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