CACNA1C

Cilia effects upon perturbation of CACNA1C

Cilia number / % ciliated:

No Effect

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-6.61) 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:

abnormal placenta morphology, small liver, preweaning lethality, complete penetrance, abnormal caudal vertebrae morphology, decreased locomotor activity, increased freezing behavior, pretal lethality prior to heart atrial septation

Mouse ciliopathy phenotype:

abnormal liver morphology, small kidney, abnormal kidney morphology

Subcellular localization

cilia

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Metabolism
• T cell biology
• Signaling (Hedgehog, GPCRs, ion channels)
• Cardiac & muscle development
• Muscle contraction & physiology
• Cilia length regulation

Function

CAC 1C, also called CaV1.2Serves as a modifier gene to cystic kidney phenotype. Plays an important role in Akt and Erk activities through cytosolic calcium and CaM ki se II. CaV1.2 might be a secondary calcium-permeable channel to the polycystins complex (24925129). CaV1.2 expression is regulated through Wnt sig ling and plays an essential sensory role in primary cilia for cellular homeostasis (24700505). CaV1.2 knockdown had no effect on cilia length in wildtype cells but shortened cilia in Pkd1-/- and Pkd2-/- cells (PMID: 24925129). CaV1.2 is not required for cilia formation (PMID: 24700505)