PPP2R2B

Cilia effects upon perturbation of PPP2R2B

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]: Hyper-ciliogenesis (robust z=2.24, ciliated=54.8%) PMID:26595381

Phenotypes

Mouse phenotype:

hyperactivity, increased leukocyte cell number, increased fasting circulating glucose level, increased circulating creatine kise level, increased monocyte cell number, thrombocytopenia, decreased heart rate variability, decreased mean corpuscular hemoglobin

Mouse ciliopathy phenotype:

abnormal reti morphology

Human ciliopathy phenotype:

spinocerebellar ataxia type 12

Subcellular localization

cilia associated gene

Functional category

• Ciliary assembly/disassembly

Function

Mutations in the PPP2R2B gene cause Spinocerebellar Ataxia (PMID: 10581021).