PDGFRA

Cilia effects upon perturbation of PDGFRA

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.15) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-2.27) PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:

decreased cd8-positive, ive alpha-beta t cell number, abnormal skin morphology, increased nk t cell number, abnormal thymus morphology, decreased circulating hdl cholesterol level, abnormal lymph node morphology, increased airway resistance, enlarged lymph nodes, increased memory-marker cd4-positive nk t cell number, increased cd4-positive nk t cell number, enlarged thymus, abnormal behavior, preweaning lethality, complete penetrance

Mouse ciliopathy phenotype:

abnormal testis morphology, abnormal kidney morphology, enlarged kidney, increased kidney weight, small testis

Human ciliopathy phenotype:

renal cell carcinoma

Subcellular localization

cilia, lysosomes, nucleus

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• T cell biology
• Signaling (Hedgehog, GPCRs, ion channels)
• Cardiac & muscle development

Function

PDGFRA has localized in primary cilia

Model organism evidence