TMEM138
transmembrane protein 138
- Ensembl:
- ENSG00000149483
- UniProt:
- Q9NPI0
- OMIM:
- 614459
- Synonyms:
- HSPC196, JBTS16
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
- Mouse ciliopathy phenotype:
- thick ventricular wall
- Human ciliopathy phenotype:
- Joubert syndrome with oculorenal defect
Ciliopathy associations
- Joubert Syndrome
Subcellular localization
transition zone
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).
Model organism evidence
Mus musculus (2 references)
We validated this method in both wild type mice and a Tmem138-deficient ciliopathy mutant, in which a reduced OS renewal rate was observed.
Tmem138 is localized to the connecting cilium essential for rhodopsin localization and outer segment biogenesis.