Browse PMS2

Summary
SymbolPMS2
NamePMS1 homolog 2, mismatch repair system component
Aliases H_DJ0042M02.9; HNPCC4; MLH4; PMSL2; postmeiotic segregation increased (S. cerevisiae) 2; PMS2 postmeiotic se ......
Chromosomal Location7p22.1
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
 
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
 
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
 
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
SymbolPMS2
NamePMS1 homolog 2, mismatch repair system component
Aliases H_DJ0042M02.9; HNPCC4; MLH4; PMSL2; postmeiotic segregation increased (S. cerevisiae) 2; PMS2 postmeiotic se ......
Chromosomal Location7p22.1
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
 

There is no record.

Summary
SymbolPMS2
NamePMS1 homolog 2, mismatch repair system component
Aliases H_DJ0042M02.9; HNPCC4; MLH4; PMSL2; postmeiotic segregation increased (S. cerevisiae) 2; PMS2 postmeiotic se ......
Chromosomal Location7p22.1
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
  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
29301958CRISPR-Cas9 melanomaB16F10Pmel-1 T cell NA/NSNA/NS
29301958CRISPR-Cas9 melanomaB16F10OT-1 T cell NA/NSNA/NS
28783722CRISPR-Cas9 melanomaMel6242CT-CRISPR NA/NSNA/NS
28723893CRISPR-Cas9 melanomaB16GVAX+Anti-PD1 NA/NSNA/NS
28723893CRISPR-Cas9 melanomaB16GVAX NA/NSNA/NS
25691366RNAiBreast cancerMCF7Luc-CTL assay NA/NSNA/NS
24476824shRNAmelanomaB16Primary screen NA/NSNA/NS
24476824shRNAmelanomaB16Secondary screen NA/NSNA/NS
Summary
SymbolPMS2
NamePMS1 homolog 2, mismatch repair system component
Aliases H_DJ0042M02.9; HNPCC4; MLH4; PMSL2; postmeiotic segregation increased (S. cerevisiae) 2; PMS2 postmeiotic se ......
Chromosomal Location7p22.1
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
 
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 Anno
126997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)14120.3250.0973
226997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)650.4430.726
326997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)870.2360.808
428552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 9160.0130.962
528552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 59-0.2550.883
628552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 470.3470.867
729033130MelanomaallAnti-PD-1 (nivolumab) 26230.0560.856
829033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 15110.0240.986
929033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 11120.1390.926
1029301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 480.2630.785
1129301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 2001
1229301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 280.8250.544
1329443960Urothelial cancerallAnti-PD-L1 (atezolizumab) 682300.1250.0175
> Mutation difference between responders and non-responders
 
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 Anno
125765070Non-small cell lung cancer (NSCLC)allAnti-PD-1 (pembrolizumab) 1417011.8-11.80.488
225765070Non-small cell lung cancer (NSCLC)smokingAnti-PD-1 (pembrolizumab) 103033.3-33.30.231
325765070Non-small cell lung cancer (NSCLC)non-smokingAnti-PD-1 (pembrolizumab) 41407.1-7.11
426359337MelanomaallAnti-CTLA-4 (ipilimumab) 277311.1011.10.0181
526359337MelanomaBRAFiAnti-CTLA-4 (ipilimumab) 0140001
626359337Melanomanon-BRAFiAnti-CTLA-4 (ipilimumab) 275911.1011.10.0286
726997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)21174.804.81
826997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)8612.5012.51
926997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)13110001
1028552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 91611.16.24.91
1128552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 592011.18.91
1228552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 470001
1329033130MelanomaallAnti-PD-1 (nivolumab) 38275.305.30.507
1429033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 22139.109.10.519
1529033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 16140001
1629301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 11130001
1729301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 610001
1829301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 5120001
Summary
SymbolPMS2
NamePMS1 homolog 2, mismatch repair system component
Aliases H_DJ0042M02.9; HNPCC4; MLH4; PMSL2; postmeiotic segregation increased (S. cerevisiae) 2; PMS2 postmeiotic se ......
Chromosomal Location7p22.1
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
 
Summary
SymbolPMS2
NamePMS1 homolog 2, mismatch repair system component
Aliases H_DJ0042M02.9; HNPCC4; MLH4; PMSL2; postmeiotic segregation increased (S. cerevisiae) 2; PMS2 postmeiotic se ......
Chromosomal Location7p22.1
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
 
> Immunostimulator
 
> MHC molecule
 
Summary
SymbolPMS2
NamePMS1 homolog 2, mismatch repair system component
Aliases H_DJ0042M02.9; HNPCC4; MLH4; PMSL2; postmeiotic segregation increased (S. cerevisiae) 2; PMS2 postmeiotic se ......
Chromosomal Location7p22.1
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
 
> Receptor
 
Summary
SymbolPMS2
NamePMS1 homolog 2, mismatch repair system component
Aliases H_DJ0042M02.9; HNPCC4; MLH4; PMSL2; postmeiotic segregation increased (S. cerevisiae) 2; PMS2 postmeiotic se ......
Chromosomal Location7p22.1
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Distribution of PMS2 expression across immune and molecular subtypes.
> Immune subtype
> Molecular subtype
> Immune subtype
 
> Molecular subtype
 
Summary
SymbolPMS2
NamePMS1 homolog 2, mismatch repair system component
Aliases H_DJ0042M02.9; HNPCC4; MLH4; PMSL2; postmeiotic segregation increased (S. cerevisiae) 2; PMS2 postmeiotic se ......
Chromosomal Location7p22.1
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Associations between PMS2 and clinical features.
> Overall survival analysis
> Cancer stage
> Tumor grade
> Overall survival
 
> Stage
 
> Grade
 
Summary
SymbolPMS2
NamePMS1 homolog 2, mismatch repair system component
Aliases H_DJ0042M02.9; HNPCC4; MLH4; PMSL2; postmeiotic segregation increased (S. cerevisiae) 2; PMS2 postmeiotic se ......
Chromosomal Location7p22.1
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Drugs targeting PMS2 collected from DrugBank database.
> Drugs from DrugBank database
 

  Details on drugs targeting PMS2.
ID Name Drug Type Targets #Targets
DB02930Adenosine 5'-[γ-thio]triphosphateSmall MoleculeBCKDK, BST1, PFKFB1, PMS2, SYN15