TMEM231

Cilia effects upon perturbation of TMEM231

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Longer 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=-4.48) PMID:29459680
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=20, lfc=-3.65) PMID:30270045

Phenotypes

Human ciliopathy phenotype:

Joubert syndrome with ocular defect; Meckel syndrome; Joubert syndrome 20; Joubert syndrome with oculorenal defect; Meckel syndrome, type 11; ciliopathy; Joubert syndrome and related disorders

Ciliopathy associations

• Joubert Syndrome
• Meckel-Gruber Syndrome
• Orofaciodigital Syndrome

Subcellular localization

transition zone

Functional category

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

Function

Interacts with several JBTS proteins as part of the B9 complex, involved in the formation of the diffusion barrier between the cilia and plasma membrane, maintaining the integrity of the cilia. Knockdown results in a reduction of cilia formation, and perturbs localisation of components of the B9 complex at the transition zone and ciliary localisation of sig lling receptors. Mutations have been associated with JBTS (23012439). Mutated in MKS (23349226). Critical for organizing the MKS complex and controlling ciliary composition. Mutated in OFD3. In mice, mutations disrupt the localisation of proteins Arl13b and Inpp5e to cilia (25869670).

Model organism evidence