PDGFRB

Cilia effects upon perturbation of PDGFRB

Ciliogenesis screen results (1 screen)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-6.52) PMID:26167766

Phenotypes

Mouse phenotype:

decreased circulating fructosamine level; increased circulating triglyceride level; abnormal seminal vesicle morphology; preweaning lethality; complete penetrance

Mouse ciliopathy phenotype:

enlarged heart

Human ciliopathy phenotype:

renal cell carcinoma; idiopathic pulmonary fibrosis; pulmonary fibrosis

Subcellular localization

cilia associated

Function

PDGFRβ promotes deciliation in cultured cells and provide evidence implicating PLCγ and intracellular Ca(2+) release in this process. Activation of wild-type PDGFRα alone did not elicit deciliation. However, expression of constitutively active PDGFRα D842V mutant receptor, which potently activates PLCγ (also known as PLCG1), caused significant deciliation, and this phenotype was rescued by inhibiting PDGFRα D842V kinase activity or AURKA. We propose that PDGFRβ and PDGFRα D842V promote deciliation through PLCγ-mediated Ca(2+) release from intracellular stores, causing activation of calmodulin and AURKA-triggered deciliation(26290382).