ZIC3
Zic family member 3
- Ensembl:
- ENSG00000156925
- UniProt:
- O60481
- OMIM:
- 300265
- Synonyms:
- HTX, HTX1, ZNF203
Cilia effects upon perturbation of ZIC3
- Loss-of-function effect:
- Shorter cilia
Ciliogenesis screen results (5 screens)
- Kim2016: Not Reported
- Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.99) PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
- Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
- Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-5.49) PMID:41160700
Phenotypes
- Human ciliopathy phenotype:
- heterotaxy, visceral, 1, X-linked; VACTERL association, X-linked, with or without hydrocephalus; congenital heart defects, multiple types, 1, X-linked; visceral heterotaxy; congenital heart malformation
Ciliopathy associations
- Visceral Heterotaxy / Situs Inversus
Subcellular localization
cilia associated gene, nucleus
Functional category
- Ciliary assembly/disassembly
- Cardiac & muscle development
- Transcription regulation
Function
Mutations in the ZIC3 gene cause Visceral Heterotaxy (PMID: 9354794).