LongevityMap variant
Entry Details
- Longevity Association
- Significant
- Population
- Chinese (Han)
- Study Design
- SNP rs189037 in the promoter region of ATM gene was studied in 789 long-long lived individuals and 886 controls
- Conclusions
- A significant association between CT genotype and longevity was observed. The CT genotype showed higher frequency in long-lived individuals than in controls (53.0% versus 45.9%, P = 0.004).
- Identifier
- rs189037
- In Other Studies (IDs)
- 357
- 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