PMS1 Homolog 2, Mismatch Repair System Component

Alternative Names

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

600259

NCBI Gene ID

5395

Uniprot ID

P54278

Length

38,182 bases

No. of Exons

16

No. of isoforms

4

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

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000535.7:c.1688G>TLebanonchr7:5987077Benign, Likely BenignUncertain SignificanceBreast CancerNG_008466.1:g.27030G>T; NM_000535.7:c.1688G>T; NP_000526.2:p.Arg563Leu6375066841705
NM_000535.7:c.219T>ASyriachr7:6004003PathogenicPathogenicMismatch Repair Cancer Syndrome 1NG_008466.1:g.10104T>A; NM_000535.7:c.219T>A; NP_000526.2:p.Cys73Ter1214346309249

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.

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