PDE6A

Cilia effects upon perturbation of PDE6A

Ciliogenesis screen results (5 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.20) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
• Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-4.52) PMID:41160700

Phenotypes

Mouse phenotype:

abnormal coat/ hair morphology, atrophy, abnormal eye morphology, increased circulating phosphate level

Human ciliopathy phenotype:

retinitis pigmentosa; retinitis pigmentosa 43

Subcellular localization

cilia

Functional category

• Ciliary assembly/disassembly
• Signaling (Hedgehog, GPCRs, ion channels)
• Ciliary membrane

Function

Also known as RP43. Mutations have been associated with autosomal recessive retinitis pigmentosa (26321862, 29118501), and increase intracellular cGMP triggering cell death most likely through a calcium/sodium imbalance (30998820).

Model organism evidence