Gene table of MSH2 : mutS homolog 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with MSH2OMIM linkNumber of associated genesgenes
158320MUIR-TORRE SYNDROMEClinVar, OMIM link to OMIM 2MLH1, MSH2
276300MISMATCH REPAIR CANCER SYNDROMEClinVar, OMIM link to OMIM 4MLH1, MSH6, PMS2, MSH2
PS120435COLORECTAL CANCER, HEREDITARY NONPOLYPOSISClinVar, OMIM, HUMSAVAR link to OMIM 7TGFBR2, MSH6, PMS2, MLH3, EPCAM, MLH1, MSH2

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Annotation of the gene MSH2

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Colorectal cancerhsa052106.52
Mismatch repairhsa034308.07
Pathways in cancerhsa052003.98
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
DNA RepairR-HSA-738945.8
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)R-HSA-53585659.18
Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)R-HSA-53586069.18
Mismatch RepairR-HSA-53585089.08
Associated GO terms for Molecular function
GO termGO IDGO IC
protein C-terminus bindingGO:00080224.5
ATPase activityGO:00168873.65
purine ribonucleoside triphosphate bindingGO:00356392.22
single thymine insertion bindingGO:00321439.05
cation bindingGO:00431691.4
enzyme bindingGO:00198992.27
mismatched DNA bindingGO:00309837.25
macromolecular complex bindingGO:00448772.61
bindingGO:00054880.18
nucleic acid bindingGO:00036761.44
DNA bindingGO:00036771.92
ion bindingGO:00431671.36
MutLalpha complex bindingGO:00324057.95
heterocyclic compound bindingGO:19013631.06
purine nucleoside bindingGO:00018832.22
nucleoside bindingGO:00018822.21
oxidized purine DNA bindingGO:00323578.13
oxidized DNA bindingGO:00323568.13
structure-specific DNA bindingGO:00435664.98
sequence-specific double-stranded DNA bindingGO:19908373.2
guanine/thymine mispair bindingGO:00321378.35
magnesium ion bindingGO:00002874.41
sequence-specific DNA bindingGO:00435652.79
nucleotide bindingGO:00001661.96
single guanine insertion bindingGO:00321428.64
nucleoside phosphate bindingGO:19012651.96
dinucleotide insertion or deletion bindingGO:00321398.64
ribonucleoside bindingGO:00325492.22
protein complex bindingGO:00324033.09
purine nucleotide bindingGO:00170762.19
double-stranded DNA bindingGO:00036903.09
metal ion bindingGO:00468721.41
centromeric DNA bindingGO:00192377.95
single-stranded DNA bindingGO:00036975.17
ATP bindingGO:00055242.43
protein homodimerization activityGO:00428033.16
hydrolase activityGO:00167871.9
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydridesGO:00168183.03
Y-form DNA bindingGO:00004038.35
single base insertion or deletion bindingGO:00321388.35
DNA secondary structure bindingGO:00002176.6
nucleoside-triphosphatase activityGO:00171113.09
small molecule bindingGO:00360941.89
kinase bindingGO:00199003.32
ADP bindingGO:00435316.24
DNA insertion or deletion bindingGO:00321357.95
protein kinase bindingGO:00199013.44
four-way junction DNA bindingGO:00004007.03
double-strand/single-strand DNA junction bindingGO:00004069.74
heteroduplex DNA loop bindingGO:00004049.05
adenyl nucleotide bindingGO:00305542.4
carbohydrate derivative bindingGO:00973672.03
organic cyclic compound bindingGO:00971591.05
catalytic activityGO:00038241.05
hydrolase activity, acting on acid anhydridesGO:00168173.03
purine ribonucleoside bindingGO:00325502.22
pyrophosphatase activityGO:00164623.04
dinucleotide repeat insertion bindingGO:00321819.05
adenyl ribonucleotide bindingGO:00325592.41
identical protein bindingGO:00428022.63
protein bindingGO:00055150.46
purine ribonucleotide bindingGO:00325552.2
protein dimerization activityGO:00469832.72
mismatch repair complex bindingGO:00324047.66
damaged DNA bindingGO:00036845.58
ribonucleotide bindingGO:00325532.19