PMS2, Official Symbol PMS2provided by HGNC Official Full Name PMS1 homolog 2, mismatch repair system componentprovided by HGNC Primary source HGNC:HGNC:9122 See related Ensembl:ENSG00000122512 MIM:600259; AllianceGenome:HGNC:9122 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MLH4; PMS-2; PMSL2; HNPCC4; LYNCH4; MMRCS4; PMS2CL Summary The protein encoded by this gene is a key component of the mismatch repair system that functions to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and homologous recombination. This protein forms heterodimers with the gene product of the mutL homolog 1 (MLH1) gene to form the MutL-alpha heterodimer. The MutL-alpha heterodimer possesses an endonucleolytic activity that is activated following recognition of mismatches and insertion/deletion loops by the MutS-alpha and MutS-beta heterodimers, and is necessary for removal of the mismatched DNA. There is a DQHA(X)2E(X)4E motif found at the C-terminus of the protein encoded by this gene that forms part of the active site of the nuclease. Mutations in this gene have been associated with hereditary nonpolyposis colorectal cancer (HNPCC; also known as Lynch syndrome) and Turcot syndrome. [provided by RefSeq, Apr 2016] Expression Ubiquitous expression in brain (RPKM 6.7), thyroid (RPKM 5.5) and 25 other tissues See more Orthologs all