Details for Gene POLE

GENE NAME POLE
CHROMOSOME 12
ENSEMBL ID ENSG00000177084
ENTREZ ID 5426
UNIPROT ACCESSION NUMBER Q07864
GO MOLECULAR FUNCTION single-stranded DNA 3'-5' exodeoxyribonuclease activity; protein binding; DNA-directed DNA polymerase activity; 4 iron, 4 sulfur cluster binding; DNA binding; nucleotide binding; chromatin binding; zinc ion binding
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-453279; R-HSA-6781827; R-HSA-73884; R-HSA-5656169; R-HSA-5696397; R-HSA-73933; R-HSA-69278; R-HSA-73894; R-HSA-5696398; R-HSA-69239; R-HSA-5693538; R-HSA-69242; hsa03420; R-HSA-5696399; R-HSA-5693567; hsa03030; R-HSA-69002; R-HSA-110373; R-HSA-110314; R-HSA-5693532; R-HSA-69206; R-HSA-68962; R-HSA-110313; R-HSA-6782135; R-HSA-68952; R-HSA-5651801; R-HSA-73893; R-HSA-5696400; R-HSA-6782210; R-HSA-1640170; R-HSA-69306; hsa03410; R-HSA-5685942
2 combinations linked to POLE OLI1039; OLI1135
2 variants linked to POLE POLE:c.4900C>T, p.Arg1634Cys; POLE:c.830A>G, p.Glu277Gly
2 diseases linked to POLE Lynch syndrome; Primary ovarian failure

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