Details for Gene ERCC2

GENE NAME ERCC2
CHROMOSOME 19
ENSEMBL ID ENSG00000104884
ENTREZ ID 2068
UNIPROT ACCESSION NUMBER P18074
GO MOLECULAR FUNCTION 4 iron, 4 sulfur cluster binding; ATP hydrolysis activity; nucleotide binding; DNA binding; hydrolase activity; iron-sulfur cluster binding; helicase activity; metal ion binding
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-167169; R-HSA-5250941; R-HSA-75955; R-HSA-162599; R-HSA-5696399; R-HSA-113418; R-HSA-1643685; R-HSA-6781827; R-HSA-76042; R-HSA-167152; R-HSA-73894; R-HSA-212165; R-HSA-112382; R-HSA-167246; R-HSA-6782135; R-HSA-72086; R-HSA-73776; R-HSA-212436; R-HSA-2564830; R-HSA-3700989; R-HSA-5663205; R-HSA-73772; R-HSA-73779; R-HSA-5696400; R-HSA-6782210; R-HSA-74160; R-HSA-75953; R-HSA-162587; R-HSA-167161; R-HSA-73854; hsa03022; R-HSA-167160; R-HSA-8953854; R-HSA-77075; R-HSA-6796648; R-HSA-73863; R-HSA-5696395; R-HSA-167162; R-HSA-1430728; R-HSA-73857; R-HSA-73762; R-HSA-167158; hsa03420; R-HSA-167200; R-HSA-427413; R-HSA-6781823; R-HSA-674695; R-HSA-162906; R-HSA-5696398; R-HSA-167172; R-HSA-73864
1 combination linked to ERCC2 OLI695
1 variant linked to ERCC2 ERCC2:c.311T>G, p.Phe104Cys
1 disease linked to ERCC2 Isolated anencephaly
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