GENE NAME | PMS2 |
CHROMOSOME | 7 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000122512 |
UNIPROT ACCESSION NUMBER | P54278 |
GO MOLECULAR FUNCTION | ['MutSalpha complex binding', 'single-stranded DNA binding', 'ATP hydrolysis activity', 'ATP binding', 'DNA binding', 'protein binding', 'endonuclease activity', 'single base insertion or deletion binding'] |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | hsa03430; hsa03460; R-HSA-1643685; R-HSA-212436; R-HSA-3700989; R-HSA-5358508; R-HSA-5358565; R-HSA-5358606; R-HSA-5423599; R-HSA-5545483; R-HSA-5632987; R-HSA-6796648; R-HSA-73857; R-HSA-73894; R-HSA-74160; R-HSA-9675135 |
2 combinations linked to PMS2 | OLI1457; OLI1135 |
2 variants linked to PMS2 | PMS2:c.2007-786_2174+493del1447, p.Ser669_Ala725delinsArg; PMS2:c.2148dupC, |
2 diseases linked to PMS2 | Lynch syndrome; Colorectal cancer |