{"entity":{"id":"atm","kind":"target","name":"ATM","aka":["ATM serine/threonine kinase","Serine-protein kinase ATM","TEL1","TELO1"],"tldr":"ATM is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Serine/threonine protein kinase which activates checkpoint signalling upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionising ultraviolet A light (UVA), thereby acting as a DNA damage sensor. Recognises the substrate consensus sequence [ST]-Q. Phosphorylates 'Ser-139' of histone variant H2AX at double strand breaks (DSBs), thereby regulating DNA damage response mechanism.\n\nCIViC holds 61 clinical evidence items and 0 assertions across 38 variants, naming Doxorubicin, Olaparib, Temozolomide and Paclitaxel and others. Open Targets scores its association with cancer at 0.92 (direct and indirect evidence; datatypes genetic literature 0.85, affected pathway 0.93, literature 1.00, genetic association 0.95, somatic mutation 0.98, animal model 0.42). IntOGen calls it a driver in 50 cohorts (14 activating, 36 loss-of-function), covering Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Renal Clear Cell Carcinoma, Cholangiocarcinoma, Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma, Colon Adenocarcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:795","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:795"},{"label":"UniProt Q13315","url":"https://www.uniprot.org/uniprotkb/Q13315/entry"},{"label":"NCBI Gene 472","url":"https://www.ncbi.nlm.nih.gov/gene/472"},{"label":"Ensembl ENSG00000149311","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000149311"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["breast-cancer","colorectal","non-hodgkin-lymphoma","prostate","leukaemia","gastric","urothelial","ovarian"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["homologous-recombination-repair","p53-cell-cycle","p53-mdm2-axis","synthetic-lethality-map"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 14 therapies; IntOGen calls it an activating (Act) driver in 14 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 36 cohorts; CIViC holds 61 clinical evidence items on its variants; UniProt keyword \"DNA damage\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Haematologic Cancer."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ATM","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:795","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:795","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13315","url":"https://www.uniprot.org/uniprotkb/Q13315/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ATM","url":"https://civicdb.org/features/69","note":"61 evidence items, 0 assertions, 38 variants; diseases: Chronic Lymphocytic Leukaemia, Prostate Cancer, Lymphoma, Castration-resistant Prostate Carcinoma, Lung Cancer and 15 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000149311","url":"https://platform.opentargets.org/target/ENSG00000149311/associations","note":"association with cancer (MONDO_0004992) 0.92; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.61, colorectal cancer 0.78, gastric cancer 0.74, prostate cancer 0.76, urinary bladder cancer 0.72, renal cell carcinoma 0.57 (GraphQL API, CC0)"},{"label":"IntOGen ATM","url":"https://www.intogen.org/search?gene=ATM","note":"driver in 50 cohorts (Act 14, LoF 36); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:795","ensembl":"ENSG00000149311","uniprot":"Q13315","entrez":"472","biology":"Serine/threonine protein kinase which activates checkpoint signalling upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionising ultraviolet A light (UVA), thereby acting as a DNA damage sensor. Recognises the substrate consensus sequence [ST]-Q. Phosphorylates 'Ser-139' of histone variant H2AX at double strand breaks (DSBs), thereby regulating DNA damage response mechanism. Also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B-lymphocytes. After the introduction of DNA breaks by the RAG complex on one immunoglobulin allele, acts by mediating a repositioning of the second allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the second allele. Also involved in signal transduction and cell cycle control. Location: Nucleus; Cytoplasmic vesicle; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Peroxisome matrix (UniProt). Locus 11q22.3 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.84 with breast cancer (MONDO_0007254); IntOGen driver in 2 cohorts (BRCA)","Colorectal cancer: Open Targets association 0.78 with colorectal cancer (MONDO_0005575); CIViC evidence names this disease","Non-Hodgkin lymphoma: Open Targets association 0.78 with non-Hodgkin lymphoma (MONDO_0018908); CIViC evidence names this disease","Prostate cancer: Open Targets association 0.76 with prostate cancer (MONDO_0008315); CIViC evidence names this disease","Leukaemia: Open Targets association 0.75 with leukaemia (MONDO_0005059)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.74 with gastric cancer (MONDO_0001056); CIViC evidence names this disease"],"targetClass":"kinase","prevalence":[]},"route":"/targets/atm/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"},{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"urothelial","kind":"cancer","name":"Bladder & urothelial cancer","route":"/cancers/urothelial/"},{"id":"breast-cancer","kind":"cancer","name":"Breast cancer (all types)","route":"/cancers/breast-cancer/"},{"id":"colorectal","kind":"cancer","name":"Colorectal cancer","route":"/cancers/colorectal/"},{"id":"gastric","kind":"cancer","name":"Gastric & gastro-oesophageal junction cancer","route":"/cancers/gastric/"},{"id":"leukaemia","kind":"cancer","name":"Leukaemia (all types)","route":"/cancers/leukaemia/"},{"id":"non-hodgkin-lymphoma","kind":"cancer","name":"Non-Hodgkin lymphoma (all types)","route":"/cancers/non-hodgkin-lymphoma/"},{"id":"ovarian","kind":"cancer","name":"Ovarian cancer","route":"/cancers/ovarian/"},{"id":"prostate","kind":"cancer","name":"Prostate cancer","route":"/cancers/prostate/"}],"pathway":[{"id":"homologous-recombination-repair","kind":"pathway","name":"Double-strand break repair: HR versus end joining","route":"/pathways/homologous-recombination-repair/"},{"id":"p53-cell-cycle","kind":"pathway","name":"p53 / RB / cell-cycle checkpoint","route":"/pathways/p53-cell-cycle/"},{"id":"synthetic-lethality-map","kind":"pathway","name":"Synthetic lethality: paired dependencies","route":"/pathways/synthetic-lethality-map/"},{"id":"p53-mdm2-axis","kind":"pathway","name":"The p53 network (guardian of the genome)","route":"/pathways/p53-mdm2-axis/"}]}}