HEY1 hes related family bHLH transcription factor with YRPW motif 1
Gene ID: 23462, updated on 18-Sep-2024Gene type: protein coding
Also known as: CHF2; OAF1; HERP2; HESR1; HRT-1; NERP2; hHRT1; BHLHb31
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- Go to complete Gene record for HEY1
- Go to Variation Viewer for HEY1 variants
Summary
This gene encodes a nuclear protein belonging to the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcriptional repressors. Expression of this gene is induced by the Notch and c-Jun signal transduction pathways. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
Genomic context
- Location:
- 8q21.13
- Sequence:
- Chromosome: 8; NC_000008.11 (79764010..79767767, complement)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for HEY1 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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