TMEM216

Cilia effects upon perturbation of TMEM216

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-4.46) PMID:29459680
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=699, lfc=-1.22) PMID:30270045

Phenotypes

Human ciliopathy phenotype:

Joubert syndrome; Joubert syndrome 2; Meckel syndrome, type 2; Meckel syndrome; Joubert syndrome with oculorenal defect

Ciliopathy associations

• Joubert Syndrome
• Meckel-Gruber Syndrome
• Nephronophthisis
• Retinal Dystrophy/Degeneration

References: PMID:20036350, PMID:20512146, PMID:39191256, PMID:21110233, PMID:40365501

Subcellular localization

transition zone

References: PMID:22282472, PMID:26982032, PMID:21493627, PMID:20512146

Functional category

• Ciliary assembly/disassembly
• Transition zone

Function

Required for ciliogenesis. It might mark vesicles en route to the base of cilium, which is known to be crucial for ciliary assembly. Mutations cause JBTS (22282472). Mutated in OFD6 (26982032) and in Meckel syndrome MKS (21493627). Mutations or knockdown result in impaired ciliogenesis and centrosome docking. Modulates hyper- responsiveness of signaling pathways mediated by Dvl and RhoA, suggesting they might be part of a complex to mediate cellular polarization and centrosomal apical docking (20512146).