CCDC92

Cilia effects upon perturbation of CCDC92

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-14.63) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

preweaning lethality, incomplete penetrance, increased bone mineral density, decreased brain weight, decreased grip strength, increased blood urea nitrogen level, decreased circulating cholesterol level, increased circulating serum albumin level

Mouse ciliopathy phenotype:

abnormal auditory brainstem response

Subcellular localization

centrosome, cilia

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)

Function

TTBK2 directly phosphorylates CEP83, CEP89, Rabin8, CCDC92, and DVL3 (25297623).

Model organism evidence