ATM Serine/Threonine Kinase
Key regulator of DNA damage response and genomic stability
Gene Information Card
| Symbol | ATM |
|---|---|
| Full Name | ATM serine/threonine kinase |
| Gene Type | Protein coding |
| Chromosomal Location | 11q22.3 |
| NCBI Gene ID | 472 ncbi.nlm.nih.gov/gene/472 |
| Ensembl ID | ENSG00000149311 |
| UniProt ID | Q13315 |
| OMIM ID | 607585 |
| HGNC ID | 795 |
| Aliases | ATA, ATC, ATD, ATE, ATDC, TEL1, TELO1 |
Description
The ATM gene encodes a serine/threonine protein kinase that is a master regulator of the DNA damage response, particularly for double-strand breaks. It activates cell cycle checkpoints, DNA repair, and apoptosis. Mutations in ATM cause ataxia telangiectasia and increase cancer risk.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ataxia telangiectasia | Loss-of-function mutations impair DNA repair, leading to neurodegeneration, immunodeficiency, and cancer predisposition | OMIM #208900 |
| Breast cancer | ATM heterozygous mutations increase risk; defective DNA damage response promotes genomic instability | ClinVar, COSMIC |
| T-cell prolymphocytic leukemia | ATM biallelic inactivation common; loss of checkpoint control drives proliferation | COSMIC, OMIM #609190 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain (cerebellum) | 8.5 | Medium |
| Lymph node | 6.2 | Low |
| Breast | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.5 | Cervical cancer line |
| MCF7 | 7.8 | Breast cancer line |
| K562 | 9.2 | Leukemia line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.7271T>G (p.Val2424Gly) | Missense | Rare | Dominant-negative effect; increases breast cancer risk |
| c.7630_7631del (p.Arg2544fs) | Frameshift | Common in ataxia telangiectasia | Loss of function; truncation |
| c.9022C>T (p.Arg3008Cys) | Missense | Rare | Impaired kinase activity; cancer susceptibility |
Mutation functional classification
Loss of Function (LOF)
Most ATM mutations are loss-of-function, leading to defective DNA repair, genomic instability, and predisposition to ataxia telangiectasia and cancers.
Gain of Function (GOF)
Rare; some missense variants may confer altered kinase activity but not clearly gain-of-function.
Dominant Negative (DN)
Certain missense mutations (e.g., p.Val2424Gly) act as dominant-negative, interfering with wild-type ATM function and increasing cancer risk.
View complete mutation data：
Gene Ontology (GO)
| • DNA damage response | • double-strand break repair |
| • protein kinase activity | • cell cycle checkpoint |
| • apoptosis |
Pathways
• ATM signaling in DNA damage response
• p53 pathway
• BRCA1-dependent DNA repair
Protein Summary
ATM is a large serine/threonine kinase (350 kDa) that phosphorylates key substrates such as p53, BRCA1, and CHK2 to coordinate DNA repair, cell cycle arrest, and apoptosis. It is activated by DNA double-strand breaks and localizes to damage sites via the MRN complex.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATM Knockout HEK293T Cell Line | EDJ-KQ211 | Human | 472 | Details Get a Quote |
| GATM Knockout HEK293 Cell Line | EDJ-KQ4684 | Human | 2628 | Details Get a Quote |
| ATMIN Knockout HEK293 Cell Line | EDJ-KQ7948 | Human | 23300 | Details Get a Quote |
| ATM Knockout HEK293 Cell Line | EDJ-KQ17856 | Human | 472 | Details Get a Quote |
| ATM Knockout A-549 Cell Line | EDJ-KQ18114 | Human | 472 | Details Get a Quote |
| GATM Knockout A-549 Cell Line | EDJ-KQ26145 | Human | 2628 | Details Get a Quote |
| ATM Knockout HCT 116 Cell Line | EDC90546 | Human | 472 | Details Get a Quote |
| ATM Knockout HeLa Cell Line | EDJ-KQ18912 | Human | 472 | Details Get a Quote |
| GATM Knockout HCT 116 Cell Line | EDJ-KQ27388 | Human | 2628 | Details Get a Quote |
| GATM Knockout HeLa Cell Line | EDJ-KQ27389 | Human | 2628 | Details Get a Quote |
| ATMIN Knockout A-549 Cell Line | EDJ-KQ33614 | Human | 23300 | Details Get a Quote |
| ATMIN Knockout HCT 116 Cell Line | EDJ-KQ33615 | Human | 23300 | Details Get a Quote |
| ATMIN Knockout HeLa Cell Line | EDJ-KQ33616 | Human | 23300 | Details Get a Quote |
| ATM Knockout 22Rv1 Cell Line | EDJ-KZ104 | Human | 472 | Details Get a Quote |
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