ATM Gene

Name	ATM serine/threonine kinase
Description	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]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n The ataxia‐telangiectasia mutated (ATM) protein kinase is a central sensor and coordinator of the cellular response to diverse forms of genomic stress. In unperturbed cells, ATM exists as an inactive dimer or multimer, but following exposures such as ionizing radiation that induce DNA double‐strand breaks (DSBs), ATM undergoes rapid intermolecular autophosphorylation (for example, on serine 1981) that triggers dissociation into active monomers. These activated forms then phosphorylate a broad spectrum of downstream targets to enforce cell‐cycle checkpoints, promote DNA repair, and, when necessary, initiate apoptosis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Recruitment of ATM to sites of damage is aided by the Mre11–Rad50–Nbs1 (MRN) complex, and efficient DSB processing involves both chromatin remodelling and end resection. Indeed, the MRN complex is essential not only for localizing ATM but also for initiating its activity early in the DSB response."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " In addition to its canonical activation by direct DSB induction, ATM can also be activated by oxidative stress. Oxidation‐dependent formation of disulfide‐cross‐linked ATM dimers enables the kinase to sense reactive oxygen species and thereby integrate alternative genotoxic signals."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Moreover, ATM cooperates with downstream effectors such as Artemis, which is phosphorylated in an ATM‐dependent manner to facilitate the end processing of a subset of DSBs, ensuring proper repair of damaged termini."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " In the context of chromatin organization, ATM signaling is especially critical for the repair of DSBs embedded in heterochromatin. By phosphorylating substrates like KAP-1, ATM transiently relaxes compact chromatin structures to render break sites accessible to the repair machinery."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, ATM functions as an apical regulator of the DNA damage response, integrating signals from ionizing radiation, chromatin perturbations, and oxidative stress to maintain genomic integrity and suppress tumorigenesis.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Christopher J Bakkenist, Michael B Kastan "}, {"type": "b", "children": [{"type": "t", "text": "DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nature (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nature01368"}], "href": "https://doi.org/10.1038/nature01368"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12556884"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12556884"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Yosef Shiloh "}, {"type": "b", "children": [{"type": "t", "text": "ATM and related protein kinases: safeguarding genome integrity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Rev Cancer (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nrc1011"}], "href": "https://doi.org/10.1038/nrc1011"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12612651"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12612651"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Ji-Hoon Lee, Tanya T Paull "}, {"type": "b", "children": [{"type": "t", "text": "ATM activation by DNA double-strand breaks through the Mre11-Rad50-Nbs1 complex."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Science (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/science.1108297"}], "href": "https://doi.org/10.1126/science.1108297"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15790808"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15790808"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Yosef Shiloh, Yael Ziv "}, {"type": "b", "children": [{"type": "t", "text": "The ATM protein kinase: regulating the cellular response to genotoxic stress, and more."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Rev Mol Cell Biol (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nrm3546"}], "href": "https://doi.org/10.1038/nrm3546"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23486281"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23486281"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Tamar Uziel, Yaniv Lerenthal, Lilach Moyal, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Requirement of the MRN complex for ATM activation by DNA damage."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO J (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/emboj/cdg541"}], "href": "https://doi.org/10.1093/emboj/cdg541"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14532133"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14532133"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Zhi Guo, Sergei Kozlov, Martin F Lavin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ATM activation by oxidative stress."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Science (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/science.1192912"}], "href": "https://doi.org/10.1126/science.1192912"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20966255"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20966255"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Enriqueta Riballo, Martin Kühne, Nicole Rief, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A pathway of double-strand break rejoining dependent upon ATM, Artemis, and proteins locating to gamma-H2AX foci."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.molcel.2004.10.029"}], "href": "https://doi.org/10.1016/j.molcel.2004.10.029"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15574327"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15574327"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Aaron A Goodarzi, Angela T Noon, Dorothee Deckbar, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ATM signaling facilitates repair of DNA double-strand breaks associated with heterochromatin."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.molcel.2008.05.017"}], "href": "https://doi.org/10.1016/j.molcel.2008.05.017"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18657500"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18657500"}]}]}]}
Synonyms	ATD, TEL1, ATC, TELO1, ATE, ATA
Proteins	ATM_HUMAN
NCBI Gene ID	472
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

ATM has 21,422 functional associations with biological entities spanning 9 categories (molecular profile, organism, functional term, phrase or reference, chemical, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 150 datasets.

Click the + buttons to view associations for ATM from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

ATM Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by ATM gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of ATM gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of ATM gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of ATM gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of ATM gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Biocarta Pathways	pathways involving ATM protein from the Biocarta Pathways dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of ATM gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ATM gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ATM gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of ATM gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of ATM gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of ATM gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with ATM gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with ATM protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with ATM gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of ATM gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of ATM gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of ATM gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with ATM gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with ATM gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of ATM gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing ATM protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing ATM protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with ATM protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with ATM protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	CORUM Protein Complexes	protein complexs containing ATM protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of ATM gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with ATM gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with ATM gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with ATM gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with ATM gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of ATM protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by ATM gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DEPOD Substrates of Phosphatases	phosphatases that dephosphorylate ATM protein from the curated DEPOD Substrates of Phosphatases dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving ATM gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving ATM gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with ATM gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with ATM gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with ATM gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with ATM gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.