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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for ATM (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID472
Official gene symbolATM
Full nameataxia telangiectasia mutated
Aliases,AT1,ATA,ATC,ATD,ATDC,ATE,DKFZp781A0353,MGC74674,TEL1,TELO1,
Gene summaryThe 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]
LocationChromosome: 11   Locus: 11q22-q23
Gene position108093559 - 108239826  Map Viewer
Gene orientationplus
Gene size146268 bp
Gene sequence
OMIM ID607585