Details for Gene ATM

GENE NAME ATM
CHROMOSOME 11
ENSEMBL ID ENSG00000149311
ENTREZ ID 472
UNIPROT ACCESSION NUMBER Q13315
GO MOLECULAR FUNCTION DNA-dependent protein kinase activity; protein binding; identical protein binding; protein serine/threonine kinase activity; DNA binding; 1-phosphatidylinositol-3-kinase activity; protein serine/threonine/tyrosine kinase activity; protein N-terminus binding; ATP binding; protein serine kinase activity; protein-containing complex binding
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa04210; R-HSA-2559583; hsa05202; hsa05206; R-HSA-1474165; hsa01524; R-HSA-5693565; R-HSA-5693568; hsa04064; hsa04068; R-HSA-5693537; hsa05170; R-HSA-73857; R-HSA-69580; hsa05165; R-HSA-5693616; R-HSA-9663891; R-HSA-5685938; R-HSA-912446; hsa04115; R-HSA-6803204; R-HSA-6803207; R-HSA-3371556; R-HSA-5693606; R-HSA-212436; R-HSA-1640170; R-HSA-3371453; hsa04115; R-HSA-5693548; R-HSA-349425; R-HSA-5693607; hsa05165; R-HSA-5633007; R-HSA-5693554; R-HSA-6804757; R-HSA-69615; R-HSA-6804756; R-HSA-73894; R-HSA-6806003; hsa04110; R-HSA-5693571; R-HSA-6804760; R-HSA-69541; R-HSA-9664873; hsa04110; R-HSA-2559586; R-HSA-5693538; R-HSA-69563; hsa05166; R-HSA-8953897; R-HSA-1500620; R-HSA-5633008; R-HSA-5693532; R-HSA-6796648; R-HSA-74160; hsa04218; hsa03440; hsa05131; R-HSA-2262752; hsa04218; R-HSA-3700989; R-HSA-5685942; hsa05131; hsa03440; R-HSA-1632852; R-HSA-69481; hsa05166; R-HSA-9612973; R-HSA-5693579; hsa05170; R-HSA-69473; hsa04064; hsa04068; hsa05206; R-HSA-69620; hsa01524; R-HSA-5693567; hsa05202; hsa04210
3 combinations linked to ATM OLI1057; OLI1050; OLI1040
3 variants linked to ATM ATM:c.418G>C, p.Asp140His; ATM:c.7375C>T, p.Arg2459Cys; ATM:c.4829G>C, p.Arg1610Thr
1 disease linked to ATM Primary ovarian failure
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