PACSIN2

Cilia effects upon perturbation of PACSIN2

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Longer cilia

Overexpression effect:

Unknown

Ciliogenesis screen results (4 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-7.09) 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:

decreased mean corpuscular hemoglobin concentration, increased fasting circulating glucose level, increased urine glucose level, decreased mean corpuscular volume, decreased mean corpuscular hemoglobin, decreased hematocrit, thrombocytosis, decreased hemoglobin content, increased lean body mass

Mouse ciliopathy phenotype:

abnormal auditory brainstem response, increased heart weight

Subcellular localization

basal body, cilia, cytosol, nucleus

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation

Function

Promotes mother centriole to basal body transition at early stages in ciliogenesis. Required for the establishment of an extracellular membrane channel, through interaction with EHD1 to form the membrane tubules that connect the developing cilium to the cell surface. Regulates actin and microtubule cytoskeleton assembly (30683896). Modulates primary cilium length in kidney epithelial cells and contributes to normal kidney tubular development/structure and repair (23235565).