CACNA1G

calcium voltage-gated channel subunit alpha1 G

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000006283
UniProt:
O43497
OMIM:
604065
Synonyms:
CAV3.1, NBR13

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-7.35) 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 exploration in new environment, abnormal skin morphology, enlarged lymph nodes, abnormal spleen morphology
Human ciliopathy phenotype:
Spinocerebellar ataxia type 42; spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits

Subcellular localization

No ciliary localization reported (cilia-associated gene).

References: PMID:26456284, PMID:26715324

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Cardiac & muscle development
  • Muscle contraction & physiology

Function

Mutations in the CACNA1G gene cause Spinocerebellar Ataxia (PMID: 26456284, 26715324).