LongevityMap Gene

Gene details

HGNC symbol
ARNTL 
Aliases
TIC; JAP3; MOP3; BMAL1; PASD3; BMAL1c; bHLHe5 
Common name
aryl hydrocarbon receptor nuclear translocator like 
Description
The protein encoded by this gene is a basic helix-loop-helix protein that forms a heterodimer with CLOCK. This heterodimer binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates transcription of these genes. PER and CRY proteins heterodimerize and repress their own transcription by interacting in a feedback loop with CLOCK/ARNTL complexes. Defects in this gene have been linked to infertility, problems with gluconeogenesis and lipogenesis, and altered sleep patterns. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
Cytogenetic Location
11p15.3
UCSC Genome Browser
View 11p15.3 on the UCSC genome browser
OMIM
602550
Ensembl
ENSG00000133794
UniProt/Swiss-Prot
A0A140VKD3_HUMAN
Entrez Gene
406
UniGene
65734
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
arntl1b
Mus musculus
Arntl
Rattus norvegicus
Arntl

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Arntl
GenAge human genes
  • This gene is present as ARNTL
GenDR gene expression
  • A homolog of this gene for Mus musculus is present as Arntl

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
Italian (Southern)
Study Design
A two-stage case-control study was performed to identify the association between longevity and variation of in homeostasis regulation pathway genes. 317 SNPs in 104 genes were analyzed in 78 cases (≥90 years, median age 98 years, 42 females) and 71 controls (<90 years, median age 67 years, 32 females) in stage 1. Then, 31 candidate SNPs identified in stage 1 (π markers = 0.1) were analyzed in an independent sample composed by 288 cases (≥90 years, median age 92 years, 163 females) and 554 controls (<90 years, median age 67 years, 277 females).
Conclusions
After adjustment for multiple testing, no significant association was identified between various SNPs and longevity.
Indentifier
rs3789327
Reference