EVC

Cilia effects upon perturbation of EVC

Loss-of-function effect:

No effect

Overexpression effect:

longer cilia

Ciliogenesis screen results (6 screens)

• Kim2016: No effect
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.21) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-4.55) PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=2, lfc=-3.46) PMID:30270045
• Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-3.08) PMID:41160700

Ciliopathy associations

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

References: PMID:17024374, PMID:23220543, PMID:10700184, PMID:35393766, PMID:17392984, PMID:26064711, PMID:26077781, PMID:38531627, PMID:37157924, PMID:35581188, PMID:19876929, PMID:29458881, PMID:28857138, PMID:33875766, PMID:16404586, PMID:37576597, PMID:26621368, PMID:35437470, PMID:21815252, PMID:21210265

Subcellular localization

basal body, cilia, transition zone

References: PMID:41005307, PMID:23026747, PMID:21356043, PMID:22986504

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Signaling (Hedgehog, GPCRs, ion channels)
• Ciliary membrane
• Transition zone
• ECM & connective tissue

Function

Positive regulator of the Hh signalling pathway, interacting with Smo and promoting Sufu/Gli3 dissociation and Gli3 ciliary traffic (17660199, 23026747, 21356043, 22986504). 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).