CACNA2D2

Cilia effects upon perturbation of CACNA2D2

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:

small spleen, increased lean body mass, small semil vesicle, abnormal semil vesicle morphology, small heart, abnormal placenta morphology, preweaning lethality, incomplete penetrance, increased spleen weight, abnormal skin morphology, abnormal gait, no spontaneous movement, abnormal spleen morphology, enlarged spleen, tremors, decreased total body fat amount

Mouse ciliopathy phenotype:

abnormal kidney morphology, female infertility, abnormal testis morphology, persistence of hyaloid vascular system, cataract, enlarged kidney, abnormal heart morphology, small kidney, abnormal reti morphology, abnormal vitreous body morphology

Human ciliopathy phenotype:

cerebellar atrophy, developmental delay, and seizures

Subcellular localization

basal body, flagella, lysosomes

Functional category

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

Function

CACNA2D2 has localized in basal body,flagella.