Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
ataxia telangiectasia mutated
|
| gptkbp:associatedWith |
gptkb:ataxia-telangiectasia
cancer susceptibility |
| gptkbp:discoveredBy |
Savitsky et al.
|
| gptkbp:discoveredIn |
1995
|
| gptkbp:encodes |
ATM protein
|
| gptkbp:Entrez_Gene_ID |
472
ENSG00000149311 |
| gptkbp:expressedIn |
various human tissues
|
| gptkbp:function |
DNA damage response
cell cycle control double-strand break repair |
| gptkbp:HGNC_ID |
HGNC:795
|
| https://www.w3.org/2000/01/rdf-schema#label |
ATM gene
|
| gptkbp:locatedOnChromosome |
gptkb:11q22.3
chromosome 11 |
| gptkbp:mutationAssociatedWith |
gptkb:ataxia-telangiectasia
|
| gptkbp:mutationIncreasesRiskOf |
gptkb:cancer
leukemia |
| gptkbp:OMIM |
607585
|
| gptkbp:orthologInMouse |
Atm gene (mouse)
|
| gptkbp:proteinFamily |
PI3/PI4-kinase family
|
| gptkbp:regulates |
gptkb:BRCA1
gptkb:p53 gptkb:CHK2 |
| gptkbp:UniProtID |
gptkb:Q13315
|
| gptkbp:bfsParent |
gptkb:ATM_kinase
|
| gptkbp:bfsLayer |
7
|