Details for Gene HERC2

GENE NAME HERC2
CHROMOSOME 15
ENSEMBL ID ENSG00000128731
ENTREZ ID 8924
UNIPROT ACCESSION NUMBER O95714
GO MOLECULAR FUNCTION ubiquitin-protein transferase activity; ubiquitin protein ligase activity; transferase activity; guanyl-nucleotide exchange factor activity; zinc ion binding; metal ion binding
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-983168; R-HSA-5693606; R-HSA-597592; R-HSA-73894; R-HSA-1280218; R-HSA-5693571; R-HSA-5693607; R-HSA-983169; R-HSA-1640170; R-HSA-3108232; R-HSA-5693538; R-HSA-69481; hsa04120; hsa04120; R-HSA-1280218; R-HSA-3108214; R-HSA-392499; R-HSA-5693571; R-HSA-5693532; R-HSA-5693565; R-HSA-983168; R-HSA-168256; R-HSA-69473; R-HSA-73894; R-HSA-5693606; R-HSA-597592; R-HSA-5693538; R-HSA-1640170; R-HSA-2990846; R-HSA-3108232; R-HSA-69481; R-HSA-69620; R-HSA-5693607; R-HSA-5693567; R-HSA-983169; R-HSA-168256; R-HSA-69473; hsa04120; hsa04120; R-HSA-3108214; R-HSA-392499; R-HSA-5693532; R-HSA-5693565; R-HSA-69620; R-HSA-5693567; R-HSA-2990846
1 combination linked to HERC2 OLI258
1 variant linked to HERC2 HERC2:c.12242G>A, p.Arg4081His
1 disease linked to HERC2 Central precocious puberty
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