SPNS2

Cilia effects upon perturbation of SPNS2

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (1 screen)

• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

developmental and structural abnormality, cornea vascularization, abnormal cornea morphology, inflammation, cornea opacity, abnormal rib morphology, abnormal eye size, absent pin reflex, increased thermal nociceptive threshold, decreased circulating glucose level, abnormal eye morphology, decreased circulating serum albumin level, abnormal eye pigmentation, increased bone mineral density, rrow eye opening, increased mean corpuscular hemoglobin, abnormal iris morphology, decreased bone mineral content, abnormal eyelid aperture, decreased leukocyte cell number, decreased circulating cholesterol level, excessive tearing, trunk curl, decreased circulating ldl cholesterol level, decreased circulating hdl cholesterol level, abnormal pupil morphology, increased circulating creatine kise level

Mouse ciliopathy phenotype:

increased circulating bilirubin level

Subcellular localization

cilia

Functional category

• Ciliary assembly/disassembly
• T cell biology
• Cell migration & adhesion

Function

In COPD and in response to cigarette smoke exposure, there is a possible disruption of epithelial/macrophage cross talk via Spns2-mediated S1P sig ling (29112690).