Identity
HGNC
LOCATION
7p22.1
LOCUSID
ALIAS
HNPCC4,MLH4,MMRCS4,PMS2CL,PMSL2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 5395
MIM: 600259
HGNC: 9122
Ensembl: ENSG00000122512
Variants:
dbSNP: 5395
ClinVar: 5395
TCGA: ENSG00000122512
COSMIC: PMS2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA443761 | Colorectal Neoplasms, Hereditary Nonpolyposis | Disease | Literature, MultilinkAnnotation | associated | 23788249 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37534630 | 2024 | PMS2 or PMS2CL? Characterization of variants detected in the 3' of the PMS2 gene. | 0 |
| 38284451 | 2024 | Genotype-phenotype correlations in carriers of the PMS2 founder variant c.1831dup. | 0 |
| 38531023 | 2024 | A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency. | 0 |
| 38654521 | 2024 | In vitro data suggest a role for PMS2 Kozak sequence mutations in Lynch syndrome risk. | 1 |
| 37534630 | 2024 | PMS2 or PMS2CL? Characterization of variants detected in the 3' of the PMS2 gene. | 0 |
| 38284451 | 2024 | Genotype-phenotype correlations in carriers of the PMS2 founder variant c.1831dup. | 0 |
| 38531023 | 2024 | A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency. | 0 |
| 38654521 | 2024 | In vitro data suggest a role for PMS2 Kozak sequence mutations in Lynch syndrome risk. | 1 |
| 36134613 | 2023 | Exome sequencing in a Swedish family with PMS2 mutation with varying penetrance of colorectal cancer: investigating the presence of genetic risk modifiers in colorectal cancer risk. | 0 |
| 36453157 | 2023 | Diabetes mellitus impacts on expression of DNA mismatch repair protein PMS2 and tumor microenvironment in pancreatic ductal adenocarcinoma. | 1 |
| 36134613 | 2023 | Exome sequencing in a Swedish family with PMS2 mutation with varying penetrance of colorectal cancer: investigating the presence of genetic risk modifiers in colorectal cancer risk. | 0 |
| 36453157 | 2023 | Diabetes mellitus impacts on expression of DNA mismatch repair protein PMS2 and tumor microenvironment in pancreatic ductal adenocarcinoma. | 1 |
| 34807001 | 2022 | Analysis of the MLH1, MLH2, MLH6, PMS2 genes and their correlations with clinical data in rectal mucinous adenocarcinoma. | 1 |
| 35346574 | 2022 | Early age of onset and broad cancer spectrum persist in MSH6- and PMS2-associated Lynch syndrome. | 4 |
| 35451539 | 2022 | Predictive functional assay-based classification of PMS2 variants in Lynch syndrome. | 1 |
Citation
Dessen P
PMS2 (PMS1 homolog 2, mismatch repair system component)
Atlas Genet Cytogenet Oncol Haematol. 2003-02-01
Online version: http://atlasgeneticsoncology.org/gene/328/pms2-(pms1-homolog-2-mismatch-repair-system-component)
