CACNB4

calcium voltage-gated channel auxiliary subunit beta 4

Ensembl:
ENSG00000182389
UniProt:
O00305
OMIM:
601949
Synonyms:
EJM4

Cilia effects upon perturbation of CACNB4

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • 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:
increased startle reflex
Human ciliopathy phenotype:
episodic ataxia type 5

Ciliopathy associations

  • Juvenile Myoclonic Epilepsy

Subcellular localization

cilia associated gene, cytosol

Functional category

  • Ciliary assembly/disassembly
  • T cell biology
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Cardiac & muscle development

Function

Mutations in the CACNB4 gene cause Juvenile Myoclonic Epilepsy (PMID: 10762541).