PMS1 Homolog 2, Mismatch Repair System Component

Alternative Names

PMS2
Postmeiotic Segregation Increased, S. Cerevisiae, 2
Mismatch Repair Gene PMSL2
PMSL2

Length

38,182 bases

No. of Exons

No. of isoforms

Protein Name

Mismatch Repair Endonuclease PMS2

Molecular Mass

95797 Da

Amino Acid Count

862

Genomic Location

chr7:5,970,924-6,009,105

Gene Map Locus

7p22.1

Description

The PMS2 gene encodes an endonuclease protein involved in the post-replication repair of mismatched DNA. The PMS2 protein carries out its function by forming a heterodimer complex with MLH1 which is subsequently recruited to the site of mismatch.

Mutations in PMS2 are associated with mismatch repair cancer syndrome, Lynch syndrome, and Turcot syndrome.

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_000535.7:c.1688G>T	Lebanon	chr7:5987077	Benign, Likely Benign	Uncertain Significance	Breast Cancer	NG_008466.1:g.27030G>T; NM_000535.7:c.1688G>T; NP_000526.2:p.Arg563Leu	63750668	41705
NM_000535.7:c.219T>A	Syria	chr7:6004003	Pathogenic	Pathogenic	Mismatch Repair Cancer Syndrome 1	NG_008466.1:g.10104T>A; NM_000535.7:c.219T>A; NP_000526.2:p.Cys73Ter	121434630	9249

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Other Reports

Lebanon

Tan et al, 2008 studied a 15 year old girl and her 8 year old brother from a consanguineous Australian-Lebanese family affected by mismatch repair cancer syndrome. The girl was found to be homozygous for a deletion of exon 7 of the PMS2 gene.

United Arab Emirates

In a retrospective study of breast cancer patients in the UAE, Altinoz et al (2020) identified an Emirati patients with pathogenic variants in the PMS2 gene. An additional Emirati patient was found to have a variant of uncertain significance in the same gene.

External Links

http://www.genecards.org/cgi-bin/carddisp.pl?gene=PMS2 https://medlineplus.gov/genetics/gene/pms2/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=pms2

Contributors

Pratibha Nair: 14.02.2022
Ghazi O. Tadmouri: 21.06.2013
Nada Assaf: 27.05.2013

Edit History

Pratibha Nair: 14.02.2022
Asha Deepthi: 24.09.2020
Pratibha Nair: 16.09.2020
Pratibha Nair: 09.09.2020
Sayeeda Hana: 11.03.2020
Sayeeda Hana: 10.03.2020
Pratibha Nair: 25.06.2013

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