TISIDB

Summary
Symbol	PMS2
Name	PMS1 homolog 2, mismatch repair system component
Aliases	H_DJ0042M02.9; HNPCC4; MLH4; PMSL2; postmeiotic segregation increased (S. cerevisiae) 2; PMS2 postmeiotic se ......
Chromosomal Location	7p22.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Basic function annotation. > Subcellular Location, Domain and Function > Gene Ontology > KEGG and Reactome Pathway

> Subcellular Location, Domain and Function [ TOP ]
Subcellular Location	Nucleus
Domain	PF01119 DNA mismatch repair protein PF08676 MutL C terminal dimerisation domain
Function	Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MLH1 to form MutL alpha. DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH6) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNA methylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to be corrected. MutL alpha (MLH1-PMS2) interacts physically with the clamp loader subunits of DNA polymerase III, suggesting that it may play a role to recruit the DNA polymerase III to the site of the MMR. Also implicated in DNA damage signaling, a process which induces cell cycle arrest and can lead to apoptosis in case of major DNA damages.

> Gene Ontology [ TOP ]
Biological Process	GO:0002200 somatic diversification of immune receptors GO:0002377 immunoglobulin production GO:0002440 production of molecular mediator of immune response GO:0002566 somatic diversification of immune receptors via somatic mutation GO:0006298 mismatch repair GO:0016445 somatic diversification of immunoglobulins GO:0016446 somatic hypermutation of immunoglobulin genes GO:0042493 response to drug GO:0090305 nucleic acid phosphodiester bond hydrolysis
Molecular Function	GO:0003697 single-stranded DNA binding GO:0004518 nuclease activity GO:0004519 endonuclease activity GO:0016887 ATPase activity GO:0030983 mismatched DNA binding GO:0032135 DNA insertion or deletion binding GO:0032138 single base insertion or deletion binding GO:0032404 mismatch repair complex binding GO:0032407 MutSalpha complex binding
Cellular Component	GO:0032300 mismatch repair complex GO:0032389 MutLalpha complex GO:1990391 DNA repair complex

> KEGG and Reactome Pathway [ TOP ]
KEGG	hsa03430 Mismatch repair hsa03460 Fanconi anemia pathway
Reactome	R-HSA-73894: DNA Repair R-HSA-74160: Gene Expression R-HSA-212436: Generic Transcription Pathway R-HSA-5358508: Mismatch Repair R-HSA-5358606: Mismatch repair (MMR) directed by MSH2 R-HSA-5358565: Mismatch repair (MMR) directed by MSH2 R-HSA-6796648: TP53 Regulates Transcription of DNA Repair Genes R-HSA-3700989: Transcriptional Regulation by TP53

Summary
Symbol	PMS2
Name	PMS1 homolog 2, mismatch repair system component
Aliases	H_DJ0042M02.9; HNPCC4; MLH4; PMSL2; postmeiotic segregation increased (S. cerevisiae) 2; PMS2 postmeiotic se ......
Chromosomal Location	7p22.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Literatures that report relations between PMS2 and anti-tumor immunity. The specific mechanism were also collected if the literature reports that a gene specifically promotes or inhibits the infiltration or function of T/NK cells.

> Text Mining [ TOP ]
There is no record.

Summary
Symbol	PMS2
Name	PMS1 homolog 2, mismatch repair system component
Aliases	H_DJ0042M02.9; HNPCC4; MLH4; PMSL2; postmeiotic segregation increased (S. cerevisiae) 2; PMS2 postmeiotic se ......
Chromosomal Location	7p22.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	High-throughput screening data (e.g. CRISPR-Cas9, shRNA and RNAi) for T cell-mediated killing. Genetic screen techniques can identify mechanisms of tumor cell resistance (e.g., PTPN2) and sensitivity (e.g., APLNR) to killing by cytotoxic T cells, the central effectors of anti-tumor immunity. After comprehensively searching, eight groups of screening data sets were collected in the current database. In this tab, users can check whether their selected genes cause resistance or increase sensitivity to T cell-mediated killing in various data sets.

> High-throughput Screening

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Statistical results of PMS2 in screening data sets for detecting immune reponses.

PMID	Screening System	Cancer Type	Cell Line	Data Set	Statistical Results	Relation to immunity
29301958	CRISPR-Cas9	melanoma	B16F10	Pmel-1 T cell	NA/NS	NA/NS
29301958	CRISPR-Cas9	melanoma	B16F10	OT-1 T cell	NA/NS	NA/NS
28783722	CRISPR-Cas9	melanoma	Mel624	2CT-CRISPR	NA/NS	NA/NS
28723893	CRISPR-Cas9	melanoma	B16	GVAX+Anti-PD1	NA/NS	NA/NS
28723893	CRISPR-Cas9	melanoma	B16	GVAX	NA/NS	NA/NS
25691366	RNAi	Breast cancer	MCF7	Luc-CTL assay	NA/NS	NA/NS
24476824	shRNA	melanoma	B16	Primary screen	NA/NS	NA/NS
24476824	shRNA	melanoma	B16	Secondary screen	NA/NS	NA/NS

Summary
Symbol	PMS2
Name	PMS1 homolog 2, mismatch repair system component
Aliases	H_DJ0042M02.9; HNPCC4; MLH4; PMSL2; postmeiotic segregation increased (S. cerevisiae) 2; PMS2 postmeiotic se ......
Chromosomal Location	7p22.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Transcriptomic and genomic profiling of pre-treated tumor biopsies from responders and non-responders to immunotherapy. These data were used to identify signatures and mechanisms of response to checkpoint blockade (e.g., anti-PDL1 and anti-PD1). One example is that mutations in the gene PBRM1 benefit clinical survival of patients with clear cell renal cell carcinoma. After comprehensively searching, we collected 5 and 6 of transcriptomic and genomic data sets, respectively. In this tab, users can check whether their selected genes have significant difference of expression or mutation between responders and non-responders in various data sets. > Expression difference between responders and non-responders > Mutation difference between responders and non-responders

> Expression difference between responders and non-responders

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Points in the above scatter plot represent the expression difference of PMS2 in various data sets.

No	PMID	Cancer type	Group	Drug	# Res	# NRes	Log2 (Fold Change)	P value
1	26997480	Melanoma	all	Anti-PD-1 (pembrolizumab and nivolumab)	14	12	0.325	0.0973
2	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	6	5	0.443	0.726
3	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	7	0.236	0.808
4	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	0.013	0.962
5	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	-0.255	0.883
6	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	0.347	0.867
7	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	26	23	0.056	0.856
8	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	15	11	0.024	0.986
9	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	11	12	0.139	0.926
10	29301960	Clear cell renal cell carcinoma (ccRCC)	all	Anti-PD-1 (nivolumab)	4	8	0.263	0.785
11	29301960	Clear cell renal cell carcinoma (ccRCC)	VEGFRi	Anti-PD-1 (nivolumab)	2	0	0	1
12	29301960	Clear cell renal cell carcinoma (ccRCC)	non-VEGFRi	Anti-PD-1 (nivolumab)	2	8	0.825	0.544
13	29443960	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	68	230	0.125	0.0175

> Mutation difference between responders and non-responders

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Points in the above scatter plot represent the mutation difference of PMS2 in various data sets.

No	PMID	Cancer type	Group	Drug	# Res	# NRes	% Mut/Res	% Mut/NRes	% Diff (R vs NR)	Pval
1	25765070	Non-small cell lung cancer (NSCLC)	all	Anti-PD-1 (pembrolizumab)	14	17	0	11.8	-11.8	0.488
2	25765070	Non-small cell lung cancer (NSCLC)	smoking	Anti-PD-1 (pembrolizumab)	10	3	0	33.3	-33.3	0.231
3	25765070	Non-small cell lung cancer (NSCLC)	non-smoking	Anti-PD-1 (pembrolizumab)	4	14	0	7.1	-7.1	1
4	26359337	Melanoma	all	Anti-CTLA-4 (ipilimumab)	27	73	11.1	0	11.1	0.0181
5	26359337	Melanoma	BRAFi	Anti-CTLA-4 (ipilimumab)	0	14	0	0	0	1
6	26359337	Melanoma	non-BRAFi	Anti-CTLA-4 (ipilimumab)	27	59	11.1	0	11.1	0.0286
7	26997480	Melanoma	all	Anti-PD-1 (pembrolizumab and nivolumab)	21	17	4.8	0	4.8	1
8	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	6	12.5	0	12.5	1
9	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	13	11	0	0	0	1
10	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	11.1	6.2	4.9	1
11	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	20	11.1	8.9	1
12	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	0	0	0	1
13	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	38	27	5.3	0	5.3	0.507
14	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	22	13	9.1	0	9.1	0.519
15	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	16	14	0	0	0	1
16	29301960	Clear cell renal cell carcinoma (ccRCC)	all	Anti-PD-1 (nivolumab)	11	13	0	0	0	1
17	29301960	Clear cell renal cell carcinoma (ccRCC)	VEGFRi	Anti-PD-1 (nivolumab)	6	1	0	0	0	1
18	29301960	Clear cell renal cell carcinoma (ccRCC)	non-VEGFRi	Anti-PD-1 (nivolumab)	5	12	0	0	0	1

Summary
Symbol	PMS2
Name	PMS1 homolog 2, mismatch repair system component
Aliases	H_DJ0042M02.9; HNPCC4; MLH4; PMSL2; postmeiotic segregation increased (S. cerevisiae) 2; PMS2 postmeiotic se ......
Chromosomal Location	7p22.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of PMS2. The immune-related signatures of 28 TIL types from Charoentong's study, which can be viewed in the download page. For each cancer type, the relative abundance of TILs were inferred by using gene set variation analysis (GSVA) based on gene expression profile. In this tab, users can examine which kinds of TILs might be regulated by the current gene.

> Lymphocyte [ TOP ]

Summary
Symbol	PMS2
Name	PMS1 homolog 2, mismatch repair system component
Aliases	H_DJ0042M02.9; HNPCC4; MLH4; PMSL2; postmeiotic segregation increased (S. cerevisiae) 2; PMS2 postmeiotic se ......
Chromosomal Location	7p22.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of PMS2. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by PMS2. > Immunoinhibitor > Immunostimulator > MHC molecule

> Immunoinhibitor [ TOP ]

> Immunostimulator [ TOP ]

> MHC molecule [ TOP ]

Summary
Symbol	PMS2
Name	PMS1 homolog 2, mismatch repair system component
Aliases	H_DJ0042M02.9; HNPCC4; MLH4; PMSL2; postmeiotic segregation increased (S. cerevisiae) 2; PMS2 postmeiotic se ......
Chromosomal Location	7p22.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of PMS2. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene. > Chemokine > Receptor

> Chemokine [ TOP ]

> Receptor [ TOP ]

Summary
Symbol	PMS2
Name	PMS1 homolog 2, mismatch repair system component
Aliases	H_DJ0042M02.9; HNPCC4; MLH4; PMSL2; postmeiotic segregation increased (S. cerevisiae) 2; PMS2 postmeiotic se ......
Chromosomal Location	7p22.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Distribution of PMS2 expression across immune and molecular subtypes. > Immune subtype > Molecular subtype

> Immune subtype [ TOP ]

> Molecular subtype [ TOP ]

Summary
Symbol	PMS2
Name	PMS1 homolog 2, mismatch repair system component
Aliases	H_DJ0042M02.9; HNPCC4; MLH4; PMSL2; postmeiotic segregation increased (S. cerevisiae) 2; PMS2 postmeiotic se ......
Chromosomal Location	7p22.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Associations between PMS2 and clinical features. > Overall survival analysis > Cancer stage > Tumor grade

> Overall survival [ TOP ]

> Stage [ TOP ]

> Grade [ TOP ]

Summary
Symbol	PMS2
Name	PMS1 homolog 2, mismatch repair system component
Aliases	H_DJ0042M02.9; HNPCC4; MLH4; PMSL2; postmeiotic segregation increased (S. cerevisiae) 2; PMS2 postmeiotic se ......
Chromosomal Location	7p22.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Drugs targeting PMS2 collected from DrugBank database.

> Drugs from DrugBank database

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Details on drugs targeting PMS2.

ID	Name	Drug Type	Targets	#Targets
DB02930	Adenosine 5'-[γ-thio]triphosphate	Small Molecule	BCKDK, BST1, PFKFB1, PMS2, SYN1	5

Browse PMS2