OTOG

otogelin

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000188162
UniProt:
Q6ZRI0
OMIM:
604487
Synonyms:
FLJ46346, MLEMP, OTGN

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
decreased prepulse inhibition, preweaning lethality, incomplete penetrance, abnormal vibrissa morphology
Human ciliopathy phenotype:
hearing loss, autosomal recessive

Subcellular localization

cilia, cytosol, lysosomes

References: PMID:25758224

Functional category

  • Ciliary assembly/disassembly
  • Ciliary membrane

Function

Otogelin is not a ciliary membrane protein itself but is closely localized to kinociliary tips, functioning in the extracellular environment at the cilia interface.Otogelin is essential for the early interaction between tether cell cilia and otolith precursors, though it doesn’t seem to affect cilia structure per se — rather, it affects how cilia are used as attachment sites during sensory organ morphogenesis(PMID: 25758224).