CLIC5

chloride intracellular channel 5

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

Cilia effects upon perturbation of CLIC5

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

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鈥搑ight asymmetry and formation of hydrocephalus and pronephric cysts(37848494).

Model organism evidence

Danio rerio (1 reference)

Whereas knockdown of Clic5a resulted in leakiness of the glomerular filtration barrier, Clic5b deficient embryos displayed defective ciliogenesis, leading to ciliopathy-associated phenoty

PMIDs: 37848494

Mus musculus (1 reference)

RNA-seq profiles for KO and WT littermates confirmed the absence of KLPH mRNA in KO lens and also showed complete absence of transcripts for Clic5, a protein associated with cilium/basal body related auditory defec

PMIDs: 29425878