IK

Cilia effects upon perturbation of IK

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (4 screens)

• Kim2016: No effect
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-20.29) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: Joubert Candidate / Ciliogenesis Defect (robust z=-2.86, ciliated=15.7%) PMID:26595381

Phenotypes

Mouse phenotype:

increased grip strength, embryonic lethality prior to organogenesis, abnormal semil vesicle morphology, preweaning lethality, complete penetrance, abnormal cornea morphology, embryonic lethality prior to tooth bud stage, increased total body fat amount

Subcellular localization

cilia associated gene, nucleus

Functional category

• Ciliary assembly/disassembly
• Cilia length regulation

Function

IK is essentially involved in ciliogenesis as an upstream regulator of oral-facial-digital syndrome ciliopathy gene, ofd1 ( 37898820). Loss of ik in zebrafish embryos displays various ciliopathy phenotypes … Depletion of ik resulted in downregulation of ofd1 expression with ciliary defects. Quantified graphs of cilia lengths and numbers in the inner ear between control and ik mutants at 2 dpf. (37898820) RNA sequencing analysis revealed that ik positively regulated ofd1 expression required for cilium assembly. (37898820)

Model organism evidence