QuickView for PMS2 (gene)

Gene Symbol:

PMS2 Homo sapiens

Full name:

PMS1 homolog 2, mismatch repair system component

Synonyms:

HNPCC4, MLH4, PMS2CL, PMSL2, mismatch repair endonuclease PMS2, DNA mismatch repair protein PMS2, PMS1 homolog 2, mismatch repair protein, PMS1 protein homolog 2, PMS2 postmeiotic segregation increased 2, postmeiotic segregation increased 2 nirs variant 6

Genomic Location:

Chr 7: 5979396-6015263

Description:

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. ...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Saccharomyces cerevisiae ,  Macaca mulatta ,  Schizosaccharomyces pombe ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio ,  Gallus gallus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGCGCANK_UNKNOWN ,  RCGCANGCGY_NRF1_Q6

Cytogenetic Map:

7p22.1

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