ATM Chromosome 11
ATM serine/threonine kinase
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What This Gene Does
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]
Gene Info
Gene Group
"Armadillo like helical domain containing|Phosphatidylinositol 3-kinase-related kinase family|BRCA1-associated genome surveillance complex"
Locus Type
gene with protein product
Location
11q22.3
Ensembl
ENSG00000149311
Associated Conditions (91)
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial colorectal cancer type X
Ovarian serous cystadenocarcinoma
Breast and/or ovarian cancer
Ovarian cancer
Gastric cancer
Breast-ovarian cancer
familial
susceptibility to
1
ATM-related cancer predisposition
Malignant tumor of breast
Tip-toe gait
Hereditary breast ovarian cancer syndrome
ATM-related disorder
Intellectual disability
Mantle cell lymphoma
Hereditary cancer
+71 more conditions
Key Variants
RS1001303564
Conflicting classifications of pathogenicity
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome, Familial cancer of breast
Health Risk
RS1005444925
Conflicting classifications of pathogenicity
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome, Familial colorectal cancer type X
Health Risk
RS1018587967
Conflicting classifications of pathogenicity
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
Health Risk
RS1020808836
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome, Familial cancer of breast
Health Risk
RS1027959208
Conflicting classifications of pathogenicity
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome, Familial cancer of breast
Health Risk
RS1028293945
Conflicting classifications of pathogenicity
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
Health Risk
RS1034235291
Conflicting classifications of pathogenicity
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome, Familial cancer of breast
Health Risk
RS1034908940
Conflicting classifications of pathogenicity
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
Health Risk
RS1049900772
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial cancer of breast, Ataxia-telangiectasia syndrome
Health Risk
RS1050470790
Conflicting classifications of pathogenicity
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome, Ovarian serous cystadenocarcinoma
Health Risk
RS1054208254
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1057516537
Conflicting classifications of pathogenicity
Ataxia-telangiectasia syndrome, Familial cancer of breast, Hereditary cancer-predisposing syndrome
Health Risk
All Variants (4128)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2135977494 | Health Risk | Pathogenic | Ataxia-telangiectasia syndrome, Familial cancer of breast, Ataxia-telangiectasia syndrome |
| RS2135977542 | Health Risk | Pathogenic | Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2135977760 | Health Risk | Pathogenic | Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2136011029 | Health Risk | Pathogenic | Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome, Familial cancer of breast |
| RS2136013815 | Health Risk | Pathogenic | Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2136015541 | Health Risk | Pathogenic | Ataxia-telangiectasia syndrome, Familial cancer of breast, Ataxia-telangiectasia syndrome |
| RS2136016053 | Health Risk | Pathogenic | Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2136017191 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2136017422 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2136018060 | Health Risk | Pathogenic | Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2136060057 | Health Risk | Pathogenic | Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2136118352 | Health Risk | Pathogenic | Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2136121259 | Health Risk | Pathogenic | Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2136132184 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS2136132894 | Health Risk | Pathogenic | Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2136164699 | Health Risk | Pathogenic | Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2136166539 | Health Risk | Pathogenic | Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS2136167830 | Health Risk | Pathogenic | Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2136167939 | Health Risk | Pathogenic | — |
| RS2136169465 | Health Risk | Pathogenic | Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2136218596 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2136219240 | Health Risk | Pathogenic | Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2136219729 | Health Risk | Pathogenic | Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2136220112 | Health Risk | Pathogenic | Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2136220927 | Health Risk | Pathogenic | Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2136221943 | Health Risk | Pathogenic | Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2136238537 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2136238826 | Health Risk | Pathogenic | Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2136239127 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2136240561 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2136241341 | Health Risk | Pathogenic | Breast carcinoma, Breast carcinoma |
| RS2136243287 | Health Risk | Pathogenic | Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2136306738 | Health Risk | Pathogenic | Ataxia-telangiectasia syndrome, Familial cancer of breast, Ataxia-telangiectasia syndrome |
| RS2136307553 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2136308396 | Health Risk | Pathogenic | Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2136308670 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2136311638 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2136313589 | Health Risk | Pathogenic | Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2136314501 | Health Risk | Pathogenic | Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2136314573 | Health Risk | Pathogenic | Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2136314701 | Health Risk | Pathogenic | — |
| RS2136315218 | Health Risk | Pathogenic | Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS2136317336 | Health Risk | Pathogenic | Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2136332132 | Health Risk | Pathogenic | Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2136334661 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2136337304 | Health Risk | Pathogenic | Ataxia-telangiectasia syndrome, Familial cancer of breast, Ataxia-telangiectasia syndrome |
| RS2136338211 | Health Risk | Pathogenic | Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS2136373820 | Health Risk | Pathogenic | Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS2136374351 | Health Risk | Pathogenic | Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2136375625 | Health Risk | Pathogenic | Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |