GAS2L2

Cilia effects upon perturbation of GAS2L2

Loss-of-function effect:

Shorter vector / orientation defect

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-2.01) PMID:41160700

Phenotypes

Mouse phenotype:

absent pin reflex, decreased total body fat amount

Human ciliopathy phenotype:

primary ciliary dyskinesia

Ciliopathy associations

• Primary Ciliary Dyskinesia

References: PMID:30665704

Subcellular localization

basal body, cilia, microtubules

References: PMID:41410385, PMID:42010243, PMID:30665704

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Cell migration & adhesion
• Signaling (Hedgehog, GPCRs, ion channels)

Function

Alignment of basal bodies. Mediation of the crosstalk between , actin filaments, and the basal body. Mutations cause poorly aligned cilia, hyperkinetic ciliary beat, and primary ciliary dyskinesia. The average length of the vector was significantly shorter in GAS2L2-deficient nasal ciliated cells than in control cells. (30665704)