CLCN2

chloride voltage-gated channel 2

Ensembl:
ENSG00000114859
UniProt:
P51788
OMIM:
600570
Synonyms:
CLC-2, CLC2, EJM6

Cilia effects upon perturbation of CLCN2

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-7.23) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:
leukoencephalopathy with mild cerebellar ataxia and white matter edema

Ciliopathy associations

  • Juvenile Myoclonic Epilepsy

Subcellular localization

cilia associated gene

Functional category

  • Ciliary assembly/disassembly
  • Neurogenesis & migration
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Mutations in the CLCN2 gene cause Juvenile Myoclonic Epilepsy (PMID: 19710717).