PMS2 gene homepage

General information
Gene symbol PMS2
Gene name PMS1 homolog 2, mismatch repair system component
Chromosome 7
Chromosomal band p22.1
Imprinted Unknown
Genomic reference LRG_161
Transcript reference NM_000535.5
Associated with diseases Lynch Syndrome
Citation reference(s) -
Curators (4) John Paul Plazzer, Johan den Dunnen, Bryony A Thompson and MEV DOMINGUEZ VALENTIN
Total number of public variants reported 1264
Unique public DNA variants reported 350
Individuals with public variants 874
Hidden variants 0
Date created December 02, 2015
Date last updated October 24, 2018
Version PMS2:181024

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 9122
Entrez Gene 5395
PubMed articles PMS2
OMIM - Gene 600259
OMIM - Diseases Lynch Syndrome (cancer, colorectal, nonpolyposis, hereditary, type 1 (Lynch syndrome, HNPCC-1))

Active transcripts




NCBI ID     

NCBI Protein ID     

00000006 7 PMS2 postmeiotic segregation increased 2 (S. cerevisiae), transcript variant 1 NM_000535.5 NP_000526.1 1264

Copyright & disclaimer
All contents of this database are protected by local and international copyright laws. The information is submitted for the purpose of sharing genetic and clinical information. Genetic variants listed may or may not have a causal association with disease phenotypes, irrespective of stated classifications or other information presented in the database. All information in this database, including variant classifications, is subject to change and there is no warranty, express or implied, as to its accuracy, completeness, or fitness for a particular purpose. Use of this database and information is subject to User responsibility and discretion. Clinical decisions regarding individual patient care should be carried out in conjunction with a healthcare professional with expertise in the relevant genes and diseases. We do not accept any liability for any injury, loss or damage incurred by use of or reliance on the information provided by this database. Database submitters are required to adhere to their institution's rules for data sharing, and local and national laws. Personal identifiers should not be submitted. Submitters retain the rights to use and edit their data. Database curators may curate data to ensure that database formatting and quality standards are met. They may also share their submitted data with external parties for research purposes or for sharing with other databases. Use of the data is for clinical diagnostic purposes. Use for research requires permission from the curator in conjunction with submitters' approval. InSiGHT expects that use of the data for commercial operations should be accompanied by payment commensurate to this use.