Gene table of ATM : ATM serine/threonine kinase

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ATM	OMIM link	Number of associated genes	genes
208900	ATAXIA-TELANGIECTASIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	ATM
114480	BREAST CANCER	OMIM	link to OMIM	27	RB1CC1, ESR1, NBN, PALB2, SLC22A18, BRIP1, BCPR, CASP8, FAM175A, TSG101, CHEK2, BARD1, TP53, AKT1, BRCA1, RAD51, PHB, PPM1D, NQO2, ATM, PIK3CA, BRCA2, CDH1, XRCC3, HMMR, KRAS, RAD54L

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Annotation of the gene ATM

Associated genes in ENSEMBL

ENSG00000149311

Associated proteins - SwissProt Accession ID

Q13315

Associated PDB IDs

Cytogenetic Band

11q22.3

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is a TF of the genes:

It is regulated by the following TF:

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Cell cycle	hsa04110	5.68
MicroRNAs in cancer	hsa05206	5.38
p53 signaling pathway	hsa04115	6.56
FoxO signaling pathway	hsa04068	5.63
Apoptosis	hsa04210	6.23
NF-kappa B signaling pathway	hsa04064	6.21
Transcriptional misregulation in cancer	hsa05202	5.21
HTLV-I infection	hsa05166	4.59

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
DNA Damage/Telomere Stress Induced Senescence	R-HSA-2559586	7.15
Cellular Senescence	R-HSA-2559583	5.7
Recruitment of repair and signaling proteins to double-strand breaks	R-HSA-75154	9.98
Cell Cycle	R-HSA-1640170	3.89
Homologous recombination repair of replication-independent double-strand breaks	R-HSA-73951	8.98
Regulation of the Fanconi anemia pathway	R-HSA-419552	9.66
p53-Dependent G1 DNA Damage Response	R-HSA-69563	7.15
Meiosis	R-HSA-1500620	6.59
G2/M DNA damage checkpoint	R-HSA-69473	7.15
Ubiquitin Mediated Degradation of Phosphorylated Cdc25A	R-HSA-69601	7.28
Cellular responses to stress	R-HSA-2262752	4.56
ATM mediated response to DNA double-strand break	R-HSA-83542	10.66
Cell Cycle Checkpoints	R-HSA-69620	5.64
Stabilization of p53	R-HSA-69541	7.28
Homologous Recombination Repair	R-HSA-73888	8.98
p53-Dependent G1/S DNA damage checkpoint	R-HSA-69580	7.15
Autodegradation of the E3 ubiquitin ligase COP1	R-HSA-349425	7.31
ATM mediated phosphorylation of repair proteins	R-HSA-75148	10.66
Fanconi Anemia pathway	R-HSA-419524	8.4
G2/M Checkpoints	R-HSA-69481	6.46
Meiotic recombination	R-HSA-912446	7.25
G1/S DNA Damage Checkpoints	R-HSA-69615	7.08
Cellular response to heat stress	R-HSA-3371556	6.59
p53-Independent DNA Damage Response	R-HSA-69610	7.28
p53-Independent G1/S DNA damage checkpoint	R-HSA-69613	7.28
DNA Repair	R-HSA-73894	5.8
Regulation of HSF1-mediated heat shock response	R-HSA-3371453	6.94
Double-Strand Break Repair	R-HSA-73890	8.46

Associated GO terms for Molecular function

GO term	GO ID	GO IC
phosphatidylinositol 3-kinase activity	GO:0035004	5.49
purine ribonucleoside triphosphate binding	GO:0035639	2.22
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
transferase activity	GO:0016740	1.95
nucleotide binding	GO:0000166	1.96
protein serine/threonine kinase activity	GO:0004674	3.64
DNA-dependent protein kinase activity	GO:0004677	8.64
purine nucleoside binding	GO:0001883	2.22
protein kinase activity	GO:0004672	3.27
protein complex binding	GO:0032403	3.09
purine nucleotide binding	GO:0017076	2.19
ATP binding	GO:0005524	2.43
kinase activity	GO:0016301	2.93
1-phosphatidylinositol-3-kinase activity	GO:0016303	5.98
ribonucleoside binding	GO:0032549	2.22
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
phosphotransferase activity, alcohol group as acceptor	GO:0016773	3.08
protein N-terminus binding	GO:0047485	5.11
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
phosphatidylinositol kinase activity	GO:0052742	5.81
adenyl ribonucleotide binding	GO:0032559	2.41
protein binding	GO:0005515	0.46
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
purine ribonucleotide binding	GO:0032555	2.2
protein dimerization activity	GO:0046983	2.72
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19