ZNF423

Cilia effects upon perturbation of ZNF423

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Longer cilia

Ciliogenesis screen results (4 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:

preweaning lethality, complete penetrance, increased circulating alkaline phosphatase level, decreased locomotor activity

Mouse ciliopathy phenotype:

persistence of hyaloid vascular system

Human ciliopathy phenotype:

Joubert syndrome; Joubert syndrome with oculorenal defect

Ciliopathy associations

• Joubert Syndrome
• Nephronophthisis

Subcellular localization

nucleus, transition zone

Functional category

• Ciliary assembly/disassembly
• Signaling (Hedgehog, GPCRs, ion channels)
• Transition zone

Function

ZNF423 localizes to the ciliary transition zone and is also involved in D damage repair (22863007. The analysis of the tChP in the lateral ventricles revealed that wild-type and mutant cells alike display a columnar and multiciliated epithelium positive for Arl13b+ and γ-tubulin (Fig. S8), again suggesting that Zfp423 (human ZNF423) is only required for the specification of the hChP ciliated epithelium and that alternative regulatory molecules may be in place in the embryonic lateral ventricles. (33046507)