CCDC39

Cilia effects upon perturbation of CCDC39

Cilia number / % ciliated:

No effect

Loss-of-function effect:

Decrease

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-5.81) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

preweaning lethality, incomplete penetrance, preweaning lethality, complete penetrance

Human ciliopathy phenotype:

primary ciliary dyskinesia

Ciliopathy associations

• Mucociliary Clearance Disorder
• Primary Ciliary Dyskinesia

Subcellular localization

cilia

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• T cell biology
• Reproduction & sperm
• Cell migration & adhesion

Function

CCDC39 regulates centriole/deuterosome amplification and multiciliogenesis. CCDC39/40 protein complex might define the binding site of radial spokes along peripheral and provide anchoring sites for inner dynein arms (29317443). It is essential for assembly of inner dynein arms and the dynein regulatory complex (21131972, 21131974) CCDC39 forms heterodimer with CCDC40 as axonemal ruler. Loss of CCDC39/CCDC40 causes loss of connectome of >90 proteins, activates cell quality control, switches multiciliated cell fate, and impairs periciliary barrier.