EZR

Cilia effects upon perturbation of EZR

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.28) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

preweaning lethality, complete penetrance

Mouse ciliopathy phenotype:

abnormal reti morphology

Subcellular localization

basal body, cytosol, endosome, microtubules, nucleus

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Cell migration & adhesion
• Signaling (Hedgehog, GPCRs, ion channels)

Function

Ezrin is localised on ciliary basal bodies in multiciliated cells (MCCs) (14996907). Ezrin, ELMO-DOCK1 and its downstream effector Rac1 cooperate and function as a module during the highly coordi ted processes of ciliary basal body targeting and docking to the apical membrane. Depletion of any of these components leads to defects in basal body docking and spacing, and ultimately to defects in ciliary function(25516973).