Gene table of MSH6 : mutS homolog 6

Gene-disease associations table

Disease ID	Disease name	Source of annotation with MSH6	OMIM link	Number of associated genes	genes
276300	MISMATCH REPAIR CANCER SYNDROME	ClinVar, OMIM	link to OMIM	4	MLH1, MSH6, PMS2, MSH2
608089	ENDOMETRIAL CANCER	OMIM	link to OMIM	5	MLH3, CDH1, MSH6, PTEN, MSH3
PS120435	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS	ClinVar, OMIM, HUMSAVAR	link to OMIM	7	TGFBR2, MSH6, PMS2, MLH3, EPCAM, MLH1, MSH2

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Annotation of the gene MSH6

Associated genes in ENSEMBL

ENSG00000116062

Associated proteins - SwissProt Accession ID

P52701

Associated PDB IDs

Cytogenetic Band

2p16.3

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Colorectal cancer	hsa05210	6.52
Mismatch repair	hsa03430	8.07
Pathways in cancer	hsa05200	3.98

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
DNA Repair	R-HSA-73894	5.8
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)	R-HSA-5358565	9.18
Mismatch Repair	R-HSA-5358508	9.08

Associated GO terms for Molecular function

GO term	GO ID	GO IC
histone binding	GO:0042393	4.72
mismatch repair complex binding	GO:0032404	7.66
ATPase activity	GO:0016887	3.65
purine ribonucleoside triphosphate binding	GO:0035639	2.22
single thymine insertion binding	GO:0032143	9.05
mismatched DNA binding	GO:0030983	7.25
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
methylated histone binding	GO:0035064	5.81
ion binding	GO:0043167	1.36
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
oxidized purine DNA binding	GO:0032357	8.13
oxidized DNA binding	GO:0032356	8.13
structure-specific DNA binding	GO:0043566	4.98
MutLalpha complex binding	GO:0032405	7.95
magnesium ion binding	GO:0000287	4.41
nucleotide binding	GO:0000166	1.96
single guanine insertion binding	GO:0032142	8.64
nucleoside phosphate binding	GO:1901265	1.96
single base insertion or deletion binding	GO:0032138	8.35
guanine/thymine mispair binding	GO:0032137	8.35
purine nucleotide binding	GO:0017076	2.19
double-stranded DNA binding	GO:0003690	3.09
metal ion binding	GO:0046872	1.41
ATP binding	GO:0005524	2.43
protein homodimerization activity	GO:0042803	3.16
hydrolase activity	GO:0016787	1.9
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
cation binding	GO:0043169	1.4
ribonucleoside binding	GO:0032549	2.22
DNA secondary structure binding	GO:0000217	6.6
nucleoside-triphosphatase activity	GO:0017111	3.09
small molecule binding	GO:0036094	1.89
protein complex binding	GO:0032403	3.09
ADP binding	GO:0043531	6.24
DNA insertion or deletion binding	GO:0032135	7.95
four-way junction DNA binding	GO:0000400	7.03
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
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
purine ribonucleoside binding	GO:0032550	2.22
pyrophosphatase activity	GO:0016462	3.04
adenyl ribonucleotide binding	GO:0032559	2.41
identical protein binding	GO:0042802	2.63
protein binding	GO:0005515	0.46
purine ribonucleotide binding	GO:0032555	2.2
protein dimerization activity	GO:0046983	2.72
chromatin binding	GO:0003682	3.64
damaged DNA binding	GO:0003684	5.58
ribonucleotide binding	GO:0032553	2.19