Gene table of CHEK2 : checkpoint kinase 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with CHEK2	OMIM link	Number of associated genes	genes
PS151623	LI-FRAUMENI SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	3	TP53, CDKN2A, CHEK2
259500	OSTEOGENIC SARCOMA	ClinVar, OMIM	link to OMIM	3	TP53, RB1, CHEK2
114480	BREAST CANCER	OMIM, HUMSAVAR	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
176807	PROSTATE CANCER	OMIM, HUMSAVAR	link to OMIM	15	PTEN, EPHB2, KLF6, AR, HIP1, CD82, MXI1, BRCA2, CDH1, CHEK2, ZFHX3, MAD1L1, HOXB13, MSR1, FGFR4

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
G2/M Checkpoints	R-HSA-69481	6.46
G2/M DNA damage checkpoint	R-HSA-69473	7.15
Ubiquitin Mediated Degradation of Phosphorylated Cdc25A	R-HSA-69601	7.28
Cell Cycle Checkpoints	R-HSA-69620	5.64
p53-Independent DNA Damage Response	R-HSA-69610	7.28
p53-Independent G1/S DNA damage checkpoint	R-HSA-69613	7.28
Cell Cycle	R-HSA-1640170	3.89
G1/S DNA Damage Checkpoints	R-HSA-69615	7.08

Associated GO terms for Molecular function

GO term	GO ID	GO IC
ubiquitin-like protein ligase binding	GO:0044389	4.15
purine ribonucleoside triphosphate binding	GO:0035639	2.22
enzyme binding	GO:0019899	2.27
binding	GO:0005488	0.18
nucleotide binding	GO:0000166	1.96
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
cation binding	GO:0043169	1.4
ion binding	GO:0043167	1.36
protein serine/threonine kinase activity	GO:0004674	3.64
transferase activity	GO:0016740	1.95
nucleoside phosphate binding	GO:1901265	1.96
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
protein kinase activity	GO:0004672	3.27
metal ion binding	GO:0046872	1.41
ATP binding	GO:0005524	2.43
protein homodimerization activity	GO:0042803	3.16
kinase activity	GO:0016301	2.93
small molecule binding	GO:0036094	1.89
kinase binding	GO:0019900	3.32
protein kinase binding	GO:0019901	3.44
ubiquitin protein ligase binding	GO:0031625	4.17
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
catalytic activity	GO:0003824	1.05
phosphotransferase activity, alcohol group as acceptor	GO:0016773	3.08
adenyl ribonucleotide binding	GO:0032559	2.41
identical protein binding	GO:0042802	2.63
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