NEK8

Cilia effects upon perturbation of NEK8

Cilia number / % ciliated:

Unknown

Loss-of-function effect:

Longer cilia

Overexpression effect:

No effect

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.91) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:

renal-hepatic-pancreatic dysplasia 2; nephronophthisis 9; nephronophthisis; renal-hepatic-pancreatic dysplasia; Nephronophthisis; polycystic kidney disease 8

Ciliopathy associations

• Autosomal Dominant Polycystic Kidney Disease
• Nephronophthisis
• Renal-hepatic-pancreatic Dysplasia

References: PMID:37598857, PMID:18199800, PMID:40189576, PMID:26697755, PMID:23026745, PMID:26862157, PMID:26967905, PMID:37598857, PMID:36215968

Subcellular localization

basal body, cilia

References: PMID:41005307, PMID:20169535, PMID:22106379, PMID:23274954

Functional category

• Ciliary assembly/disassembly

Function

Mutations cause nephronophthisis (NPHP9), it can be transported into cilia by Inv (20169535). Controls or modulates the ciliary localization of PC1 and PC2, as well as ciliary length (18235101). It is speculated that Nek8 activity may be required to initiate ciliogenesis, and degradation may be required to prevent it (22106379). Component of the PC2 channel complex required to mediate nodal calcium flux, indispensable for the establishment of left-right asymmetry (23274954).