CCDC92
coiled-coil domain containing 92
Tier: Gold Standard Ciliary Genes
- Ensembl:
- ENSG00000275035
- UniProt:
- Q53HC0
- Synonyms:
- FLJ22471
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
Subcellular localization
centrosome, cilia
References: PMID:25297623
Functional category
- Ciliary assembly/disassembly
- Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
Function
TTBK2 directly phosphorylates CEP83, CEP89, Rabin8, CCDC92, and DVL3 (25297623).