Details for Gene ZIC3

GENE NAME ZIC3
CHROMOSOME X
ENSEMBL ID ENSG00000156925
ENTREZ ID 7547
UNIPROT ACCESSION NUMBER O60481
GO MOLECULAR FUNCTION RNA polymerase II transcription regulatory region sequence-specific DNA binding; protein binding; DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding; sequence-specific double-stranded DNA binding; DNA-binding transcription factor activity
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-2892247; R-HSA-452723; R-HSA-1266738; hsa04550
6 combinations linked to ZIC3 OLI759; OLI149; OLI696; OLI713; OLI722; OLI151
1 variant linked to ZIC3 ZIC3:c.49G>T, p.Gly17Cys
3 diseases linked to ZIC3 Ventricular septal defect; Isolated anencephaly; Transposition of the great arteries

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