PAX6

Cilia effects upon perturbation of PAX6

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-10.88) 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:

cleft palate, hyperactivity, facial cleft, abnormal eye morphology, abnormal craniofacial morphology, cornea opacity, anophthalmia, abnormal placenta vasculature, abnormal placenta morphology, developmental dysplasia, cornea vascularization, small liver, decreased body length, preweaning lethality, complete penetrance

Mouse ciliopathy phenotype:

microphthalmia, cataract, abnormal liver morphology, abnormal brain morphology

Human ciliopathy phenotype:

coloboma of optic nerve; coloboma, ocular, autosomal dominant; Foveal hypoplasia - presenile cataract; aniridia-cerebellar ataxia-intellectual disability syndrome; Aniridia - cerebellar ataxia - intellectual disability; coloboma; Familial ocular anterior segment mesenchymal dysgenesis

Subcellular localization

cilia, nucleus

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Metabolism
• T cell biology
• Neurogenesis & migration
• Protein processing & maturation
• Cell migration & adhesion
• Signaling (Hedgehog, GPCRs, ion channels)
• Axon guidance & growth
• Transcription regulation

Function

Pax6 have the presence of primary cilia in amacrine cells of adult primates(34241625) and Pax6 controls centriole maturation in cortical progenitors through Odf2(25352170).

Model organism evidence