CLIC5

chloride intracellular channel 5

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000112782
UniProt:
Q9NZA1
OMIM:
607293
Synonyms:
DFNB102

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 startle reflex, decreased prepulse inhibition, head bobbing, decreased bone mineral density
Human ciliopathy phenotype:
hearing loss, autosomal recessive

Subcellular localization

cilia

References: PMID:37848494

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Clic5 in regulating essential ciliary functions and identified Clic5 as a positive regulator of ERM phosphorylation. knockdown of Clic5a resulted in leakiness of the glomerular filtration barrier, Clic5b deficient embryos displayed defective ciliogenesis, leading to ciliopathy-associated phenotypes such as ventral body curvature, otolith deposition defects, altered left–right asymmetry and formation of hydrocephalus and pronephric cysts(37848494).