PDE6B

Ciliogenesis screen results (4 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.98) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:

atrophy, decreased circulating triglyceride level, increased circulating potassium level, increased cellular hemoglobin content, hyperactivity, decreased body weight, decreased circulating amylase level, increased blood uric acid level, decreased locomotor activity, decreased body temperature, increased mean corpuscular hemoglobin concentration, increased mean corpuscular volume, abnormal whole-body plethysmography

Human ciliopathy phenotype:

retinitis pigmentosa

Ciliopathy associations

• Retinal Dystrophy/Degeneration

References: PMID:11853768, PMID:8394174, PMID:8075643, PMID:7599633

Subcellular localization

basal body

References: PMID:41005307

Functional category

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

Function

Also known as RP40. Mutations have been associated with autosomal recessive rod-cone dystrophy and increase intracellular cGMP triggering cell death most likely through a calcium/sodium imbalance (30998820, 27588261).