ATM ATM serine/threonine kinase
Gene ID: 472, updated on 12-Apr-2026Gene type: protein coding
Also known as: AT1; ATA; ATC; ATD; ATE; ATDC; TEL1; TELO1
- See all available tests in GTR for this gene
- Go to complete Gene record for ATM
- Go to Variation Viewer for ATM variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Ataxia-telangiectasia syndrome | See labs |
| Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes. GeneReviews: Not available | |
| Does metformin work for everyone? A genome-wide association study for metformin response. GeneReviews: Not available | |
| Familial cancer of breast MedGen: C0346153OMIM: 114480GeneReviews: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer | See labs |
| Genome-wide association study identifies three new melanoma susceptibility loci. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2020-04-08) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-04-08) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 11q22.3
- Sequence:
- Chromosome: 11; NC_000011.10 (108223067..108369102)
- Total number of exons:
- 67
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ATM variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- Ataxia Telangiectasia Mutated (ATM) @ LOVD
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
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