SOX2

Cilia effects upon perturbation of SOX2

Ciliogenesis screen results (5 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Basu et al. 2023 (siRNA) [siRNA]: Left-Right Asymmetry Candidate (Z2MCilia=-1.26) PMID:37771269
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:

embryonic growth retardation, abnormal optic disk morphology, enhanced contextual conditioning behavior, preweaning lethality, complete penetrance, atrophy, developmental dysplasia, irregularly shaped pupil, embryonic lethality prior to organogenesis

Mouse ciliopathy phenotype:

abnormal reti vasculature morphology, abnormal brain morphology, abnormal reti morphology, abnormal reti blood vessel morphology

Human ciliopathy phenotype:

anophthalmia/microphthalmia-esophageal atresia syndrome; Anophthalmia/microphthalmia - esophageal atresia

Subcellular localization

cilia associated gene, cytosol, nucleus

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• T cell biology
• Cell migration & adhesion
• Transcription regulation

Function

Sox2 activated promoter-luciferase reporter constructs for differentiation markers characteristic of Clara, ciliated, and goblet cells, Scgb1a1, FoxJ1, and Agr2, respectively ( 20011520).