NOD2
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NOD2 (nucleotide-binding oligomerization domain containing 2) is a protein, also known as the caspase recruitment domain family, member 15 (CARD15), which plays an important role in the immune system. It is an intracellular pattern recognition receptor, which is similar in structure to resistant proteins of plants and recognizes molecules containing the specific structure called muramyl dipeptide (MDP) that is found in certain bacteria.[1]
The NOD2 gene is linked to inflammatory diseases such as inflammatory bowel disease/Crohn's Disease and Blau syndrome.[1][1] It is located on chromosome 16 in humans.
This gene is a member of the Nod1/Apaf-1 family and encodes a protein with two caspase recruitment (CARD) domains and six leucine-rich repeats (LRRs). The protein is primarily expressed in the peripheral blood leukocytes. It plays a role in the immune response to intracellular bacterial lipopolysaccharides (LPS) by recognizing the muramyl dipeptide (MDP) derived from them and activating the NFKB protein. Mutations in this gene have been associated with Crohn disease and Blau syndrome.[1]
References
Further reading
- Punchard NA (2002). "Overview: Nod2, cause of, or contributor to, Crohn's disease.". Current opinion in investigational drugs (London, England : 2000) 2 (10): 1378-81. PMID 11890351.
- Satsangi J, Morecroft J, Shah NB, Nimmo E (2003). "Genetics of inflammatory bowel disease: scientific and clinical implications.". Best practice & research. Clinical gastroenterology 17 (1): 3-18. PMID 12617879.
- Rosenbaum JT, Planck SR, Davey MP, et al. (2003). "With a mere nod, uveitis enters a new era.". Am. J. Ophthalmol. 136 (4): 729-32. PMID 14516815.
- Kurokawa T, Kikuchi T, Ohta K, et al. (2003). "Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation.". Ophthalmology 110 (10): 2040-4. doi:10.1016/S0161-6420(03)00717-6. PMID 14522785.
- Girardin SE, Hugot JP, Sansonetti PJ (2004). "Lessons from Nod2 studies: towards a link between Crohn's disease and bacterial sensing.". Trends Immunol. 24 (12): 652-8. PMID 14644139.
- Newman B, Siminovitch K (2004). "Inflammatory bowel disease: Crohn's disease and the success of NODern genetics.". Clinical and investigative medicine. Médecine clinique et experimentale 26 (6): 303-14. PMID 14690304.
- Oostenbrug LE, van Dullemen HM, te Meerman GJ, Jansen PL (2004). "IBD and genetics: new developments.". Scand. J. Gastroenterol. Suppl. (239): 63-8. PMID 14743885.
- Kambe N, Nishikomori R, Kanazawa N (2005). "The cytosolic pattern-recognition receptor Nod2 and inflammatory granulomatous disorders.". J. Dermatol. Sci. 39 (2): 71-80. doi:10.1016/j.jdermsci.2005.04.001. PMID 15927452.
- Newman B, Siminovitch KA (2005). "Recent advances in the genetics of inflammatory bowel disease.". Curr. Opin. Gastroenterol. 21 (4): 401-7. PMID 15930978.
- Martinon F, Tschopp J (2006). "NLRs join TLRs as innate sensors of pathogens.". Trends Immunol. 26 (8): 447-54. doi:10.1016/j.it.2005.06.004. PMID 15967716.
- Strober W, Murray PJ, Kitani A, Watanabe T (2006). "Signalling pathways and molecular interactions of NOD1 and NOD2.". Nat. Rev. Immunol. 6 (1): 9-20. doi:10.1038/nri1747. PMID 16493424.
- Cavanaugh J (2006). "NOD2: ethnic and geographic differences.". World J. Gastroenterol. 12 (23): 3673-7. PMID 16773683.
- Hugot JP (2006). "CARD15/NOD2 mutations in Crohn's disease.". Ann. N. Y. Acad. Sci. 1072: 9-18. doi:10.1196/annals.1326.011. PMID 17057186.
- Vignal C, Singer E, Peyrin-Biroulet L, et al. (2007). "How NOD2 mutations predispose to Crohn's disease?". Microbes Infect. 9 (5): 658-63. doi:10.1016/j.micinf.2007.01.016. PMID 17379562.
- Quaglietta L, te Velde A, Staiano A, et al. (2007). "Functional consequences of NOD2/CARD15 mutations in Crohn disease.". J. Pediatr. Gastroenterol. Nutr. 44 (5): 529-39. doi:10.1097/MPG.0b013e31803815ee. PMID 17460484.
- van der Linde K, Boor PP, Houwing-Duistermaat JJ, et al. (2007). "CARD15 mutations in Dutch familial and sporadic inflammatory bowel disease and an overview of European studies.". European journal of gastroenterology & hepatology 19 (6): 449-59. doi:10.1097/01.meg.0000236887.44214.6a. PMID 17489054.
External links
http://www.genecards.org/cgi-bin/carddisp.pl?gene=CARD15&search=nod2
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
