CACNA1G

Cilia effects upon perturbation of CACNA1G

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

Mouse ciliopathy phenotype:

enlarged kidney, enlarged testis, abnormal kidney morphology

Human ciliopathy phenotype:

Spinocerebellar ataxia type 42; spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits

Subcellular localization

cilia associated gene

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).

Model organism evidence