LongevityMap Gene
Gene details
- HGNC symbol
- BHLHE41
- Aliases
- DEC2; hDEC2; BHLHB3; SHARP1
- Common name
- basic helix-loop-helix family member e41
- Description
- This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTL's transactivation of PER1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. Defects in this gene are associated with the short sleep phenotype. [provided by RefSeq, Feb 2014]
- Cytogenetic Location
- 12p12.1
- UCSC Genome Browser
- View 12p12.1 on the UCSC genome browser
- OMIM
- 606200
- Ensembl
- ENSG00000123095
- UniProt/Swiss-Prot
- A0A024RAV8_HUMAN
- Entrez Gene
- 79365
- UniGene
- 177841
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
Studies (1)
Significant/Non-significant: 1/0
- Longevity Association
- Significant
- Population
- American (Caucasian)
- Study Design
- Genome-wide association study in 801 centenarians and 914 healthy controls
- Conclusions
- 281 SNPs were found to discriminate between cases and controls
- Indentifier
- rs7959761
- Reference