Preferred Label : PMS2 wt Allele;
NCIt synonyms : Postmeiotic Segregation Increased (S. cerevisiae) 2 Gene; PMS2 Postmeiotic Segregation Increased 2 (S. cerevisiae) wt Allele; PMSL2; HNPCC4; H_DJ0042M02.9; DNA Mismatch Repair Gene Homolog; PMS1 Homolog 2, Mismatch Repair System Component wt Allele; Mismatch Repair Gene PMSL2; PMS1 Homolog 2, Mismatch Repair Protein Gene; MLH4; Postmeiotic Segregation Increased, S. cerevisiae, 2 Gene; PMS2CL;
NCIt definition : Human PMS2 wild-type allele is located in the vicinity of 7p22.2 and is approximately
36 kb in length. This allele, which encodes mismatch repair endonuclease PMS2 protein,
plays a role in DNA mismatch repair.;
NCIt note : Associated with colon, endometrial, and stomach cancers, the ubiquitously expressed
PMS2 Gene (MUTL/HEXB family) consists of 15 exons that encode DNA Mismatch Repair
Protein PMS2, and are involved with MSH2 and MLH1 in mismatch repair of dinucleotide
and trinucleotide sequences. PMS2 is part of the BASC genome surveillance complex.
MSH2 and MLH1 interact with PMS1, PMS2, and MSH6. Essential for repair of replication
slippage errors, PMS2 is a cloned gene for Turcot syndrome and Hereditary Non-Polyposis
Colon Cancer. Transcribed from the opposite strand, JTV1 overlaps PMS2.;
GenBank Accession Number : NM_000535;
Origin ID : C51003;
UMLS CUI : C1709414;
OMIM relation
- See also inter- (CISMeF)
- Semantic type(s)
- concept_is_in_subset
- gene_found_in_organism
- gene_has_abnormality
- gene_in_chromosomal_location
- gene_involved_in_pathogenesis_of_disease
- gene_is_element_in_pathway
- gene_plays_role_in_process
