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

References: PMID:37519231

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 dominant polycystic kidney disease. Ablation of CFTR makes cilia longer suggesting that CFTR plays a role there(37519231).