CNKSR2

Cilia effects upon perturbation of CNKSR2

Phenotypes

Mouse phenotype:

increased exploration in new environment; impaired glucose tolerance; abnormal bone structure

Human ciliopathy phenotype:

X-linked dominant intellectual disability - epilepsy syndrome

Subcellular localization

cilia associated

Functional category

• T cell biology
• Ciliary assembly/disassembly

Function

A null mutation in Chlamydomonas CNK2, a member of the evolutionarily conserved family of NIMA-related kinases, reveals feedback regulation of assembly and disassembly rates. cnk2-1 mutant cells have a mild long-flagella (lf) phenotype as a consequence of reduced rates of flagellar disassembly. This is in contrast to the strong lf mutant lf4-7, which exhibits an aberrantly high rate of assembly. Cells carrying both mutations have even longer flagella than lf4-7 single mutants do. In addition to their high rate of assembly, lf4-7 mutants have a CNK2-dependent increase in disassembly rate. Finally, cnk2-1 cells have a decreased rate of turnover of flagellar subunits at the tip of the flagellum, demonstrating that the effects on disassembly are compensated by a reduced rate of assembly(24184104).