TMEM218

transmembrane protein 218

Ensembl:
ENSG00000150433
UniProt:
A2RU14
OMIM:
619285

Cilia effects upon perturbation of TMEM218

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (z=2.71) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Human ciliopathy phenotype:
Joubert syndrome 39; Joubert syndrome

Ciliopathy associations

  • Joubert Syndrome
  • Meckel-Gruber Syndrome

Subcellular localization

lysosomes, transition zone

Functional category

  • Ciliary assembly/disassembly
  • Transition zone

Function

MKS module component, TMEM-218 (Tmem218), that requires CEP-290 and other MKS module components for TZ localisation and functions together with the NPHP module to facilitate ciliogenesis(26982032).

Model organism evidence

Danio rerio (1 reference)

The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies.

PMIDs: 35137054