RYR2

Cilia effects upon perturbation of RYR2

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.36) 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:

preweaning lethality; complete penetrance; increased startle reflex

Ciliopathy associations

• Juvenile Myoclonic Epilepsy

Subcellular localization

cilia associated gene, cytosol, nucleoplasm, plasma membrane

Functional category

• Small GTPases; Metabolism; Motile cilium & axoneme; Ciliary assembly/disassembly

Function

we establish hit genes F2r and Sarm1 as components of a cilium disassembly pathway that includes cADPR, RyRs, peri-centrosomal calcium, and RhoA. While this pathway was identified from CRISPRa-based overexpression, we show that it is also a key endogenous regulator of cilia dynamics across cell types, including in the long-studied process of cilia resorption upon exit from quiescence(PMID: 41160700).