STING-S154

Expression-ready ORF Clones

SAVI-associated N154S hSTING gene

InvivoGen provides the sequence of the human STING isoform containing the unique point mutation N154S. This mutation confers a gain-of-function and constitutive activation of STING with an upregulation of IFN production. The S154 STING variant is associated with STING-associated vasculopathy with onset in infancy (SAVI), a chronic autoinflammatory disease.

STING (stimulator of interferon genes; also known as TMEM173, MITA, MPYS, and ERIS) is essential for the interferon (IFN) response to microbial or self DNA, and acts as a direct sensor of cyclic dinucleotides (CDNs) [1].

Several variants of STING have been described in the human population. The allele S154 contains a unique point mutation (N154S) in the “wild-type” R232-RGR hSTING variant.

This mutation confers gain-of-function and constitutive activation of STING with an upregulation of IFN production. It is associated with a chronic autoinflammatory disease, known as STING-associated vasculopathy with onset in infancy (SAVI) [2].

References:

1. Sun L. et al., 2013. Cyclic GMP-AMP synthase is a cytosolic DNA sensor that activates the type I interferon pathway. Science. 339:786-91.
2. Liu Y. et al., 2014. Activated STING in a vascular and pulmonary syndrome. N Engl J Med. 371(6):507-18.