DCDC2

Cilia effects upon perturbation of DCDC2

Loss-of-function effect:

No effect

Overexpression effect:

longer cilia

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect 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:

hearing loss, autosomal recessive

Ciliopathy associations

• Neonatal Sclerosing Cholangitis
• Nephronophthisis

References: PMID:27319779, PMID:25557784, PMID:37296768, PMID:31821705

Subcellular localization

cilia, microtubules

References: PMID:41410385, PMID:25601850, PMID:21698230, PMID:25557784

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation

Function

Functional role in ciliary signaling . DCDC2 overexpression increases ciliary length and enhances the Kif3a mediated translocation of Smo to the cilium, resulting in overactivation of the Shh pathway in neurons (21698230). Regulation of microtubule nucleation, stability and length in hair cells (25601850). Overexpression inhibits β- catenin-dependent Wnt signaling (25557784). The increase in ciliary length could also be seen in NIH/3T3 cells overexpressing DCDC2.