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

Danio rerio
bhlhe41
Mus musculus
Bhlhe41
Rattus norvegicus
Bhlhb3

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