Curators: InSiGHT - John-Paul Plazzer, Mev Dominguez Valentin, and Bryony A Thompson
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The PMS2 gene homepage


PMS2 variants classified by the InSiGHT consortium: criteria used for classification are available here. We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.
General information
Gene symbol PMS2
Gene name PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
Chromosome 7
Chromosomal band p22.1
Imprinted Unknown
Genomic reference LRG_161
Transcript reference NM_000535.6
Associated with diseases HNPCC (Lynch), HNPCC4, MMRCS, Adenoma sebaceum
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) InSiGHT - John-Paul Plazzer, Mev Dominguez Valentin, and Bryony A Thompson
Total number of public variants reported 2953
Unique public DNA variants reported 1031
Individuals with public variants 3477
Hidden variants 29
Notes this is one of the InSiGHT gene variant databases.
We sincerely thank the George Hicks Foundation for their generous support of the curation of the InSiGHT database from 2010 to 2012. We are grateful for the ongoing funding for curation which is provided by the Royal Melbourne Hospital foundation.
NOTE: this database was initiated by merging entries from the MMR, InSiGHT and MMRUV databases (for links see the gene homepage). We want to gratefully acknowledge Amanda Dohey (Woods laboratory) to get this work done. We also want to thank Krista Mahoney (until 2011) and Johan den Dunnen (until 2018) for helping to curate the database.
Date created January 01, 2008
Date last updated August 15, 2025
Version PMS2:250815
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
Homepage URL https://www.LOVD.nl/PMS2
External URL Woods MMR databases
InSiGHT
MMRUV Groningen
HGNC HGNC:9122
Entrez Gene 5395
PubMed articles PMS2
OMIM - Gene 600259
OMIM - Diseases HNPCC4 (cancer, colorectal, nonpolyposis, hereditary, type 4 (HNPCC-4))
MMRCS (cancer syndrome, mismatch repair (MMRCS))
HGMD PMS2
GeneCards PMS2
NIH Genetic Testing Registry PMS2
Orphanet PMS2


Active transcripts

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Operator Column type Example Matches
Text Arg all entries containing 'Arg'
space Text Arg Ser all entries containing 'Arg' and 'Ser'
| Text Arg|Ser all entries containing 'Arg' or 'Ser'
! Text !fs all entries not containing 'fs'
^ Text ^p.(Arg all entries beginning with 'p.(Arg'
$ Text Ser)$ all entries ending with 'Ser)'
="" Text ="" all entries with this field empty
="" Text ="p.0" all entries exactly matching 'p.0'
!="" Text !="" all entries with this field not empty
!="" Text !="p.0" all entries not exactly matching 'p.0?'
combination Text *|Ter !fs all entries containing '*' or 'Ter' but not containing 'fs'
Date 2020 all entries matching the year 2020
| Date 2020-03|2020-04 all entries matching March or April, 2020
! Date !2020-03 all entries not matching March, 2020
< Date <2020 all entries before the year 2020
<= Date <=2020-06 all entries in or before June, 2020
> Date >2020-06 all entries after June, 2020
>= Date >=2020年06月15日 all entries on or after June 15th, 2020
combination Date 2019|2020 <2020-03 all entries in 2019 or 2020, and before March, 2020
Numeric 23 all entries exactly matching 23
| Numeric 23|24 all entries exactly matching 23 or 24
! Numeric !23 all entries not exactly matching 23
< Numeric <23 all entries lower than 23
<= Numeric <=23 all entries lower than, or equal to, 23
> Numeric >23 all entries higher than 23
>= Numeric >=23 all entries higher than, or equal to, 23
combination Numeric >=20 <30 !23 all entries with values from 20 to 29, but not equal to 23


Some more advanced examples:

Example Matches
Asian all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian" all entries containing 'South Asian', but not containing 'South East Asian'


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ID

Chr

Name

NCBI ID

NCBI Protein ID

DescendingVariants
00025646 7 transcript variant 1 NM_000535.6 NP_000526.2 2953


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.


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