SPTBN2

Cilia effects upon perturbation of SPTBN2

Ciliogenesis screen results (5 screens)

• Kim2016: No effect
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.36) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: Joubert Candidate / Ciliogenesis Defect (robust z=-2.42, ciliated=19.1%) PMID:26595381
• Kim et al. 2010 (siRNA) [siRNA]: Shorter Cilia (Area per Cilia z=-3.53) PMID:20393562

Phenotypes

Mouse phenotype:

increased circulating creatine kise level, increased circulating phosphate level

Mouse ciliopathy phenotype:

short tibia

Human ciliopathy phenotype:

spinocerebellar ataxia type 5; autosomal recessive spinocerebellar ataxia 14; Spectrin-associated autosomal recessive cerebellar ataxia

Subcellular localization

cilia associated gene, cytosol

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation

Function

Mutations in the SPTBN2 gene cause Spinocerebellar Ataxia (PMID: 16429157).