CFTR

Cilia effects upon perturbation of CFTR

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Longer cilia

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-5.58) 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:

cystic fibrosis; bronchiectasis with or without elevated sweat chloride 1; bronchiectasis; Bronchiectasis

Subcellular localization

cilia, endosome, microtubules

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation
• Metabolism
• Reproduction & sperm
• Protein processing & maturation
• Signaling (Hedgehog, GPCRs, ion channels)

Function

CFTR and PC2, partners in the primary cilia in autosomal domi nt polycystic kidney disease. Ablation of CFTR makes cilia longer suggesting that CFTR plays a role there(37519231).