Gene: STING1

Alternate names for this Gene: ERIS|MITA|MPYS|NET23|SAVI|STING|STING-beta|TMEM173|hMITA|hSTING

Gene Summary: This gene encodes a five transmembrane protein that functions as a major regulator of the innate immune response to viral and bacterial infections. The encoded protein is a pattern recognition receptor that detects cytosolic nucleic acids and transmits signals that activate type I interferon responses. The encoded protein has also been shown to play a role in apoptotic signaling by associating with type II major histocompatibility complex. Mutations in this gene are the cause of infantile-onset STING-associated vasculopathy. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 5

Location in Chromosome : 5q31.2

Description of this Gene: stimulator of interferon response cGAMP interactor 1

Type of Gene: protein-coding

rs587777609 in STING1 gene and STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET PMID 25029335 2014 Activated STING in a vascular and pulmonary syndrome.

PMID 25401470 2014 Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations.

PMID 30842659 2019 Cryo-EM structures of STING reveal its mechanism of activation by cyclic GMP-AMP.

PMID 26235147 2015 STING Activation by Translocation from the ER Is Associated with Infection and Autoinflammatory Disease.

PMID 27613991 2016 Severe Pulmonary Fibrosis as the First Manifestation of Interferonopathy (TMEM173 Mutation).

PMID 28484079 2017 Intrinsic antiproliferative activity of the innate sensor STING in T lymphocytes.

rs7447927 in STING1 gene and Squamous cell carcinoma of esophagus PMID 25129146 2014 Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.