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 |