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Reviewed May 2013
What is the official name of the PMS2 gene?
The official name of this gene is “PMS1 homolog 2, mismatch repair system component.”
PMS2 is the gene's official symbol. The PMS2 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the PMS2 gene?
The PMS2 gene provides instructions for making a protein that plays an essential role in repairing DNA. This protein helps fix mistakes that are made when DNA is copied (DNA replication) in preparation for cell division. The PMS2 protein joins with another protein called MLH1 (produced from the MLH1 gene) to form a protein complex. This complex coordinates the activities of other proteins that repair mistakes made during DNA replication. Repairs are made by removing the section of DNA that contains mistakes and replacing it with a corrected DNA sequence. The PMS2 gene is a member of a set of genes known as the mismatch repair (MMR) genes.
How are changes in the PMS2 gene related to health conditions?
Genetics Home Reference provides information about ovarian cancer, which is also associated with changes in the PMS2 gene.
Where is the PMS2 gene located?
Cytogenetic Location: 7p22.2
Molecular Location on chromosome 7: base pairs 5,970,925 to 6,009,106
(Homo sapiens Annotation Release 107, GRCh38.p2) (
The PMS2 gene is located on the short (p) arm of chromosome 7 at position 22.2.
More precisely, the PMS2 gene is located from base pair 5,970,925 to base pair 6,009,106 on chromosome 7.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PMS2?
You and your healthcare professional may find the following resources about PMS2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the PMS2 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding PMS2?
cancer ; cell ; cell division ; colon ; colorectal ; DNA ; DNA replication ; duct ; endometrium ; gallbladder ; gene ; glioblastoma ; homozygous ; inherit ; intestine ; leukemia ; lymphoma ; mutation ; ovarian ; protein ; rectum ; segregation ; stomach ; syndrome ; tumor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (14 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.