The PMS2 gene homepage

General information
Gene symbol PMS2
Gene name PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
Chromosome 7
Chromosomal band p22.1
Imprinted -
Genomic reference NG_008466.1
Transcript reference NM_000535.5
Associated with diseases WD
Citation reference(s) Pan M et al, 2011
Zhang T et al, 2010
Refseq URL Coding DNA reference sequence
Curators (0) -
Total number of public variants reported 14
Unique public DNA variants reported 14
Individuals with public variants 0
Hidden variants -
Notes This gene is one of the PMS2 gene family members found in clusters on chromosome 7. The product of this gene is involved in DNA mismatch repair. It forms a heterodimer with MLH1 and this complex interacts with other complexes bound to mismatched bases. Mutations in this gene are associated with hereditary nonpolyposis colorectal cancer, Turcot syndrome, and are a cause of supratentorial primitive neuroectodermal tumors. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2008]
Also known as: PMSL2; HNPCC4; PMS2CL
Date created May 04, 2013

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 http://www.genomed.org/lovd3/genes/PMS2
External URL AGID_164
mutation-database-lovd
mismatch repair (MMR) genes
HGNC 9122
Entrez Gene 5395
PubMed articles PMS2
OMIM - Gene 600259
OMIM - Diseases WD (wilson disease)
HGMD PMS2
GeneCards PMS2
GeneTests PMS2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000108 7 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) NM_000535.5 - 14


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