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Symbol ATM contributors: mct/ - updated : 31-01-2016
HGNC name ataxia telangiectasia mutated
HGNC id 795
corresponding disease(s) ATM , MTCL
related resource Ataxia-Telangiectasia
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral somatic mutation deletion    
in B cell chronic lymphocytic leukemia
constitutional germinal mutation      
in ataxia telangiectasia (see AT) but not mutated in childhood T-ALL
tumoral   deletion    
in mantle cell lymphoma (see also MTCL and TSG11F) and in lymphoblastic leukemia with favorable prognosis, in T-cell lymphomas with aberrant recombination between GZMB and GZMH
constitutional   deletion    
a 4nt deletion involved in the splicing processing defect in ATM
tumoral       loss of function
in T cell prolymphocytic leukaemia (T-PLL), B-cell chronic lymphocytic leukaemia (B-CLL) and mantle cell lymphoma (MCL)
tumoral     --low  
in T-cell prolymphocytic leukemia
tumoral     --over  
in lung carcinoma, in esophageal squamous cell carcinoma and its premalignant lesions when compared with normal tissues and increased ATM expression was associated with tobacco smoke exposure and tumor de-differentiation
constitutional       loss of function
acute effect of ATM inhibition on COX activity in skeletal muscle, it is likely that chronic ATM deficiency results in additional mitochondrial deficits in other tissue or cell types
  • breast cancer susceptibility in AT heterozygotes
  • hereditary non polyposis colorectal cancer (HNPCC)
  • to lung cancer
  • predisposition gene for pancreatic ductal adenocarcinoma
  • to colorectal cancer (CRC)
  • Variant & Polymorphism SNP , other
  • missense mutations were significantly elevated in breast cancer
  • at single nucleotide polymorphism sites (-4518A>G, IVS21-77C>T, IVS61-55T>C and IVS62+60G>A) the ATTA haplotype showed significantly increased risk of lung cancer compared with the GCCA haplotype
  • missense substitutions in ATM confer increased risk of breast cancer
  • increased risk of CRC when all the heterozygous ATM carrier relatives were evaluated
  • Candidate gene should be further evaluated as a biomarker for the early detection of esophageal cancer and tobacco use in patients
    Therapy target
    modulation of ATM kinase activity can be beneficial for increasing radiosensitivity of cells, and therefore may be beneficial in increasing the efficacy of currently available cancer therapeutics
    may be a new therapeutic target for cardiovascular pathologies