EVC2

Cilia effects upon perturbation of EVC2

Overexpression effect:

Longer cilia

Ciliogenesis screen results (4 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-4.17) PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:

decreased grip strength, decreased circulating total protein level, abnormal spleen morphology, decreased prepulse inhibition, abnormal skin morphology, small spleen, absent teeth, decreased body length, decreased blood urea nitrogen level, abnormal gallbladder morphology, developmental dysplasia, abnormal cecum morphology, abnormal snout morphology

Mouse ciliopathy phenotype:

abnormal uterus morphology, eye hemorrhage, hydrometra, abnormal reti morphology

Ciliopathy associations

• Ellis-van Creveld Syndrome
• Short-Rib Thoracic Dysplasia
• Skeletal Ciliopathy
• Weyers Acrofacial Dysostosis

Subcellular localization

cilia, nucleus

Functional category

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

Function

Positive regulator of the Hh sig lling pathway, interacting with Smo and promoting Sufu/Gli3 dissociation and Gli3 ciliary traffic (17660199, 23026747, 21356043, 22986504,22981989). Mutated in Ellis-van Creveld syndrome (21356043). EVC1 and EVC2 are mutually required for localizing to primary cilia and also for maintaining their normal protein levels (23026747).