NEK8

NIMA related kinase 8

Ensembl:
ENSG00000160602
UniProt:
Q86SG6
OMIM:
609799
Synonyms:
NPHP9

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

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

Subcellular localization

basal body, cilia

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).

Model organism evidence

Mus musculus (1 reference)

Ocular manifestations of renal ciliopathies.

PMIDs: 37644229

C. elegans (1 reference)

Human NIMA-related kinases have primarily been studied for their roles in cell cycle progression (NEK1/2/6/7/9), checkpoint-DNA-damage control (NEK1/2/4/5/10/11), and ciliogenesis (NEK1/4/8).

PMIDs: 37099601