IQCE

Ciliogenesis screen results (4 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-1.46) PMID:29459680
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=154, lfc=-3.26) PMID:30270045
• Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-2.01) PMID:41160700

Phenotypes

Mouse phenotype:

decreased total reti thickness, tremors, increased mean corpuscular volume, increased neutrophil cell number, increased circulating phosphate level, abnormal locomotor behavior, decreased lymphocyte cell number, decreased circulating serum albumin level, decreased circulating glucose level

Human ciliopathy phenotype:

postaxial polydactyly type A; polydactyly, postaxial, type a7

Ciliopathy associations

• Postaxial Polydactyly

References: PMID:37576597, PMID:28488682, PMID:31549751

Subcellular localization

cilia, flagella, transition zone

References: PMID:41005307, PMID:24582806

Functional category

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

Function

Form a complex with EFCAB7. It anchors the EVC- EVC2 complex to positively regulate the Hh pathway (24582806)