Summary | |
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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 | 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. |
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 |
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 | |
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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. |
There is no record. |
Summary | |
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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.
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Summary | |
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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 |
Points in the above scatter plot represent the expression difference of PMS2 in various data sets.
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Points in the above scatter plot represent the mutation difference of PMS2 in various data sets.
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Summary | |
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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. |
Summary | |
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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 |
Summary | |
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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 |
Summary | |
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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 |
Summary | |
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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 |
Summary | |
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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. |
Details on drugs targeting PMS2.
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