Gene table of PMS2 : PMS1 homolog 2, mismatch repair system component

Gene-disease associations table

Disease ID	Disease name	Source of annotation with PMS2	OMIM link	Number of associated genes	genes
276300	MISMATCH REPAIR CANCER SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	4	MLH1, MSH6, PMS2, MSH2
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 PMS2

Associated genes in ENSEMBL

ENSG00000122512

Associated proteins - SwissProt Accession ID

P54278

Associated PDB IDs

Cytogenetic Band

7p22.1

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Fanconi anemia pathway	hsa03460	7.01
Mismatch repair	hsa03430	8.07

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 (MMR) directed by MSH2:MSH3 (MutSbeta)	R-HSA-5358606	9.18
Mismatch Repair	R-HSA-5358508	9.08

Associated GO terms for Molecular function

GO term	GO ID	GO IC
ATPase activity	GO:0016887	3.65
purine ribonucleoside triphosphate binding	GO:0035639	2.22
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
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
pyrophosphatase activity	GO:0016462	3.04
nucleotide binding	GO:0000166	1.96
nucleoside phosphate binding	GO:1901265	1.96
single base insertion or deletion binding	GO:0032138	8.35
protein complex binding	GO:0032403	3.09
purine nucleotide binding	GO:0017076	2.19
double-stranded DNA binding	GO:0003690	3.09
MutSalpha complex binding	GO:0032407	8.13
single-stranded DNA binding	GO:0003697	5.17
ATP binding	GO:0005524	2.43
mismatch repair complex binding	GO:0032404	7.66
hydrolase activity	GO:0016787	1.9
ribonucleoside binding	GO:0032549	2.22
nucleoside-triphosphatase activity	GO:0017111	3.09
hydrolase activity, acting on ester bonds	GO:0016788	3.1
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
DNA insertion or deletion binding	GO:0032135	7.95
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
adenyl nucleotide binding	GO:0030554	2.4
nuclease activity	GO:0004518	4.33
organic cyclic compound binding	GO:0097159	1.05
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
carbohydrate derivative binding	GO:0097367	2.03
adenyl ribonucleotide binding	GO:0032559	2.41
protein binding	GO:0005515	0.46
endonuclease activity	GO:0004519	4.78
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19