Stimulator of interferon genes (STING) is a component of the innate immune response that binds to cyclic dinucleotides, which are bacterial second messengers, leading to activation of NF-κB and transcription of immunomodulatory genes, including type I interferon (IFN). The R232 variant is the most common variant in the human population, found at a frequency of 57.9% in the 1000 Genome Project.{38697} The SNP variant H232 (Item No. 22815) is found at a 13.7% frequency. Various mutations in STING either reduce or increase its activity. Gain-of-function mutations in STING, including R284M (Item No. 23594) and V155M, lead to constitutive activation and enhancement of the type I IFN response. The V155M mutation is associated with a systemic inflammatory condition, including pulmonary fibrosis and autoimmune factors. Mutations that reduce STING activity include K224R (Item No. 23593), which reduces ubiquitination of STING thereby disrupting its localization within the cell, and the double mutation G230A, R293Q (Item No. 23592), which reduces the IFN response. A T596A mutation present in the mouse strain Goldenticket leads to a complete loss of STING protein and lack of a type I IFN response to infection by Listeria.

• UniProt: Q86WV6

Used for: Infectious Disease, Autoimmunity, Signal Transduction