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Tbio
PMS2
Mismatch repair endonuclease PMS2

Protein Summary
Description
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-MSH3) 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 cas ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000265849
  • ENSP00000265849
  • ENSG00000122512
  • ENST00000382321
  • ENSP00000371758
  • ENST00000643595
  • ENSP00000494497

Symbol
  • PMSL2
  • MLH4
  • PMSL2
  • HNPCC4
  • PMS2CL
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
molecular function
1
protein domain
0.97
histone modification site profile
0.81
transcription factor binding site profile
0.81
tissue sample
0.77


Related Tools
Target Illumination GWAS Analytics (TIGA)
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TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
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GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
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GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 655.82   (req: < 5)
Gene RIFs: 121   (req: <= 3)
Antibodies: 465   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 655.82   (req: >= 5)
Gene RIFs: 121   (req: > 3)
Antibodies: 465   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 8
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (2)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
reticulocyte count
3
5
5
97.9
reticulocyte measurement
3
4
5
96.9
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
reticulocyte count
5
97.9
reticulocyte measurement
5
96.9
Orthologs (15)
1 – 5 of 15
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
mismatch repair endonuclease PMS2
463257
Mouse
MGI:104288
18861
Rat
RGD:1305483
288479
Dog
PMS1 homolog 2, mismatch repair system component
VGNC:54058
479751
Horse
PMS1 homolog 2, mismatch repair system component
VGNC:51217
100062380
Species
Name
OMA
EggNOG
Inparanoid
Chimp
mismatch repair endonuclease PMS2
Mouse
Rat
Dog
PMS1 homolog 2, mismatch repair system component
Horse
PMS1 homolog 2, mismatch repair system component
Protein Structure (4 Structures, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-P54278-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 4 of 4
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (16)
DNA Repair (R-HSA-73894)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 13
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
DNA Repair
Reactome
Defective Mismatch Repair Associated With MLH1
Reactome
Defective Mismatch Repair Associated With PMS2
Reactome
Disease
Reactome
Diseases of Mismatch Repair (MMR)
Name
Explore in Pharos
Explore in Source
DNA Repair
Defective Mismatch Repair Associated With MLH1
Defective Mismatch Repair Associated With PMS2
Disease
Diseases of Mismatch Repair (MMR)
Gene Ontology Terms (16)
Items per page:
10
1 – 5 of 5
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
HGNC
Inferred from Direct Assay (IDA)
HGNC
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Traceable Author Statement (TAS)
Reactome
Inferred from Electronic Annotation (IEA)
InterPro
Protein-Protein Interactions (148)
1 – 10 of 148
MLH1
Tbio
Novelty:  0.00034212
p_int:  1
Score:  0.993
Data Source:  BioPlex,Reactome,STRINGDB
MSH2
Tbio
Novelty:  0.00054283
Score:  0.999
Data Source:  Reactome,STRINGDB
MSH6
Tbio
Family:  Epigenetic
Novelty:  0.00097439
Score:  0.999
Data Source:  Reactome,STRINGDB
MSH3
Tbio
Novelty:  0.0036266
Score:  0.998
Data Source:  Reactome,STRINGDB
EXO1
Tbio
Family:  Enzyme
Novelty:  0.00130104
Score:  0.997
Data Source:  Reactome,STRINGDB
PCNA
Tchem
Novelty:  0.03909539
Score:  0.965
Data Source:  Reactome,STRINGDB
TP53
Tchem
Family:  TF
Novelty:  0.00001907
Score:  0.963
Data Source:  STRINGDB
FAN1
Tbio
Family:  Enzyme
Novelty:  0.05719629
Score:  0.931
Data Source:  STRINGDB
ERCC1
Tbio
Novelty:  0.00079472
Score:  0.928
Data Source:  STRINGDB
POLD1
Tclin
Family:  Enzyme
Novelty:  0.00508209
Score:  0.927
Data Source:  STRINGDB
Publication Statistics
PubMed Score  655.82

PubMed score by year
PubTator Score  426.97

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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