TMEM138

Cilia effects upon perturbation of TMEM138

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

decreased prepulse inhibition, decreased grip strength, increased spleen weight, decreased bone mineral content, decreased body length

Human ciliopathy phenotype:

Joubert syndrome with oculorenal defect

Ciliopathy associations

• Joubert Syndrome

References: PMID:22282472

Subcellular localization

transition zone, cilia

References: PMID:41005307, PMID:22282472

Functional category

• Ciliary assembly/disassembly
• Transition zone

Function

Mutations cause JBTS. Required for ciliogenesis. Mutations lead to shorter cilia, and knockdown cells show defects of ciliogenesis. It might mark vesicles en route to the base of cilium, which is known to be crucial for ciliary assembly (22282472).