LongevityMap variant

Entry Details

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.
Identifier
rs664677
In Other Studies (IDs)
2718
Cytogenetic Location
11q22.3
UCSC Genome Browser
View 11q22.3 on the UCSC genome browser

Gene details

HGNC symbol
ATM
Aliases
AT1; ATA; ATC; ATD; ATE; ATDC; TEL1; TELO1 
Common name
ATM serine/threonine kinase 
Description
The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]
Other longevity studies of this gene
14
OMIM
607585
Ensembl
ENSG00000149311
UniProt/Swiss-Prot
A0A024R3C7_HUMAN
Entrez Gene
472
UniGene
367437
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
atm
Drosophila melanogaster
tefu
Mus musculus
Atm
Rattus norvegicus
Atm

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Atm
GenAge human genes
  • This gene is present as ATM
CellAge
  • This gene is present as ATM

References

Di Cianni et al. (2013)

Other variants which are also part of this study