TMEM218

transmembrane protein 218

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000150433
UniProt:
A2RU14
OMIM:
619285

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

References: PMID:33791682, PMID:35137054

Subcellular localization

lysosomes, transition zone

References: PMID:26982032

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).