LongevityMap variant

Entry Details

Longevity Association: Significant
Population: Italian
Study Design: rs189037 C/T genotype was examined in 128 Italian long-lived individuals (78.1 % females, 98.7 ± 5.1 years; 52.3 % > 100 years) and 150 controls (56.7 % females, 67.2 ± 9.1 years) to study the association with longevity
Conclusions: There was association between the rs189037 C/T genotype and longevity in Italian centenarians, with an odds ratio of 1.85 (95 % CI 0.99-3.45)

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

GenAge model organism genes

GenAge human genes

CellAge

Piaceri et al. (2013)