STING1 Gene: Comparison
Please note this is a comparison between Version 2 by Rui Liu and Version 1 by Rui Liu.

sStimulator of interferon response cGAMP interactor 1: The STING1 gene provides instructions for making a protein that is involved in immune system function. 

  • genes

1. Normal Function

The STING1 gene provides instructions for making a protein that is involved in immune system function. STING helps produce beta-interferon, a member of a class of proteins called cytokines that promote inflammation. Inflammation normally occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and help with tissue repair.

2. Health Conditions Related to Genetic Changes

2.1. STING-associated vasculopathy with onset in infancy

At least three STING1 gene mutations have been identified in individuals with STING-associated vasculopathy with onset in infancy (SAVI), a potentially life-threatening disorder that damages the skin, lungs, blood vessels, and other tissues. The mutations that cause SAVI are described as "gain-of-function" mutations because they enhance the activity of the STING protein, leading to overproduction of beta-interferon. Abnormally high beta-interferon levels cause excessive inflammation, resulting in damage to the body's own cells and tissues and leading to the signs and symptoms of SAVI. Disorders such as SAVI that result from abnormally increased inflammation are known as autoinflammatory diseases.

3. Other Names for This Gene

  • endoplasmic reticulum IFN stimulator

  • endoplasmic reticulum interferon stimulator

  • ERIS

  • FLJ38577

  • hMITA

  • hSTING

  • mediator of IRF3 activation

  • MITA

  • mitochondrial mediator of IRF3 activation

  • MPYS

  • N-terminal methionine-proline-tyrosine-serine plasma membrane tetraspanner

  • NET23

  • SAVI

  • stimulator of interferon genes protein

  • STING

  • TMEM173

  • transmembrane protein 173

References

  1. Burdette DL, Monroe KM, Sotelo-Troha K, Iwig JS, Eckert B, Hyodo M, HayakawaY, Vance RE. STING is a direct innate immune sensor of cyclic di-GMP. Nature.2011 Sep 25;478(7370):515-8. doi: 10.1038/nature10429.
  2. Chen H, Sun H, You F, Sun W, Zhou X, Chen L, Yang J, Wang Y, Tang H, Guan Y,Xia W, Gu J, Ishikawa H, Gutman D, Barber G, Qin Z, Jiang Z. Activation of STAT6 by STING is critical for antiviral innate immunity. Cell. 2011 Oct14;147(2):436-46. doi: 10.1016/j.cell.2011.09.022.
  3. Chiliveru S, Rahbek SH, Jensen SK, Jørgensen SE, Nissen SK, Christiansen SH,Mogensen TH, Jakobsen MR, Iversen L, Johansen C, Paludan SR. Inflammatorycytokines break down intrinsic immunological tolerance of human primarykeratinocytes to cytosolic DNA. J Immunol. 2014 Mar 1;192(5):2395-404. doi:10.4049/jimmunol.1302120.
  4. Ishikawa H, Barber GN. STING is an endoplasmic reticulum adaptor thatfacilitates innate immune signalling. Nature. 2008 Oct 2;455(7213):674-8. doi:10.1038/nature07317.13;456(7219):274.
  5. Ishikawa H, Barber GN. The STING pathway and regulation of innate immunesignaling in response to DNA pathogens. Cell Mol Life Sci. 2011Apr;68(7):1157-65. doi: 10.1007/s00018-010-0605-2.
  6. Ishikawa H, Ma Z, Barber GN. STING regulates intracellular DNA-mediated, type I interferon-dependent innate immunity. Nature. 2009 Oct 8;461(7265):788-92. doi:10.1038/nature08476.
  7. Liu Y, Jesus AA, Marrero B, Yang D, Ramsey SE, Sanchez GAM, Tenbrock K,Wittkowski H, Jones OY, Kuehn HS, Lee CR, DiMattia MA, Cowen EW, Gonzalez B,Palmer I, DiGiovanna JJ, Biancotto A, Kim H, Tsai WL, Trier AM, Huang Y, StoneDL, Hill S, Kim HJ, St Hilaire C, Gurprasad S, Plass N, Chapelle D,Horkayne-Szakaly I, Foell D, Barysenka A, Candotti F, Holland SM, Hughes JD,Mehmet H, Issekutz AC, Raffeld M, McElwee J, Fontana JR, Minniti CP, Moir S,Kastner DL, Gadina M, Steven AC, Wingfield PT, Brooks SR, Rosenzweig SD, FleisherTA, Deng Z, Boehm M, Paller AS, Goldbach-Mansky R. Activated STING in a vascular and pulmonary syndrome. N Engl J Med. 2014 Aug 7;371(6):507-518. doi:10.1056/NEJMoa1312625.
  8. Paludan SR, Bowie AG. Immune sensing of DNA. Immunity. 2013 May23;38(5):870-80. doi: 10.1016/j.immuni.2013.05.004. Review.
  9. Xiao TS, Fitzgerald KA. The cGAS-STING pathway for DNA sensing. Mol Cell. 2013Jul 25;51(2):135-9. doi: 10.1016/j.molcel.2013.07.004. Review.
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