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).