Details for Gene PMS2

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 OLI1135; OLI1457
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

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