ID:NOD2_HUMAN DESCRIPTION: RecName: Full=Nucleotide-binding oligomerization domain-containing protein 2; AltName: Full=Caspase recruitment domain-containing protein 15; AltName: Full=Inflammatory bowel disease protein 1; FUNCTION: Induces NF-kappa-B via RICK (CARDIAK, RIP2) and IKK- gamma. Confers responsiveness to intracellular bacterial lipopolysaccharides (LPS). SUBUNIT: Binds to RIPK2/RICK by CARD-CARD interaction. SUBCELLULAR LOCATION: Cytoplasm. TISSUE SPECIFICITY: Monocytes-specific. DISEASE: Defects in NOD2 are the cause of Blau syndrome (BS) [MIM:186580]. BS is a rare autosomal dominant disorder characterized by early-onset granulomatous arthritis, uveitis and skin rash. DISEASE: Defects in NOD2 are a cause of susceptibility to inflammatory bowel disease type 1 (IBD1) [MIM:266600]. IBD1 is a chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. DISEASE: Defects in NOD2 are the cause of sarcoidosis early-onset (EOS) [MIM:609464]. EOS is a form of sarcoidosis manifesting in children younger than 4 years of age. Sarcoidosis is an idiopathic, systemic, inflammatory disease characterized by the formation of immune granulomas in involved organs. Granulomas predominantly invade the lungs and the lymphatic system, but also skin, liver, spleen, eyes and other organs may be involved. Early- onset sarcoidosis is quite rare and has a distinct triad of skin, joint and eye disorders, without apparent pulmonary involvement. Compared with an asymptomatic and sometimes naturally disappearing course of the disease in older children, early-onset sarcoidosis is progressive and in many cases causes severe complications, such as blindness, joint destruction and visceral involvement. SIMILARITY: Contains 2 CARD domains. SIMILARITY: Contains 9 LRR (leucine-rich) repeats. SIMILARITY: Contains 1 NACHT domain. WEB RESOURCE: Name=INFEVERS; Note=Repertory of FMF and hereditary autoinflammatory disorders mutations; URL="http://fmf.igh.cnrs.fr/ISSAID/infevers/search.php?n=6"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NOD2";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
SCOP Domains: 47986 - DEATH domain 52047 - RNI-like 52058 - L domain-like 52075 - Outer arm dynein light chain 1 52540 - P-loop containing nucleoside triphosphate hydrolases 53795 - PEP carboxykinase-like
ModBase Predicted Comparative 3D Structure on Q9HC29
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000187 activation of MAPK activity GO:0002367 cytokine production involved in immune response GO:0002374 cytokine secretion involved in immune response GO:0002376 immune system process GO:0002606 positive regulation of dendritic cell antigen processing and presentation GO:0002732 positive regulation of dendritic cell cytokine production GO:0002830 positive regulation of type 2 immune response GO:0006952 defense response GO:0007254 JNK cascade GO:0007584 response to nutrient GO:0008284 positive regulation of cell proliferation GO:0009595 detection of biotic stimulus GO:0016045 detection of bacterium GO:0030277 maintenance of gastrointestinal epithelium GO:0032495 response to muramyl dipeptide GO:0032498 detection of muramyl dipeptide GO:0032731 positive regulation of interleukin-1 beta production GO:0032733 positive regulation of interleukin-10 production GO:0032740 positive regulation of interleukin-17 production GO:0032755 positive regulation of interleukin-6 production GO:0032757 positive regulation of interleukin-8 production GO:0032760 positive regulation of tumor necrosis factor production GO:0032874 positive regulation of stress-activated MAPK cascade GO:0035556 intracellular signal transduction GO:0042742 defense response to bacterium GO:0042981 regulation of apoptotic process GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043406 positive regulation of MAP kinase activity GO:0043552 positive regulation of phosphatidylinositol 3-kinase activity GO:0045087 innate immune response GO:0045747 positive regulation of Notch signaling pathway GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0046330 positive regulation of JNK cascade GO:0046645 positive regulation of gamma-delta T cell activation GO:0050679 positive regulation of epithelial cell proliferation GO:0050718 positive regulation of interleukin-1 beta secretion GO:0050727 regulation of inflammatory response GO:0050871 positive regulation of B cell activation GO:0051092 positive regulation of NF-kappaB transcription factor activity GO:0051259 protein oligomerization GO:0051353 positive regulation of oxidoreductase activity GO:0051770 positive regulation of nitric-oxide synthase biosynthetic process GO:0060585 positive regulation of prostaglandin-endoperoxide synthase activity GO:0070374 positive regulation of ERK1 and ERK2 cascade GO:0070423 nucleotide-binding oligomerization domain containing signaling pathway GO:0070431 nucleotide-binding oligomerization domain containing 2 signaling pathway GO:0070498 interleukin-1-mediated signaling pathway GO:0071224 cellular response to peptidoglycan GO:0071225 cellular response to muramyl dipeptide GO:0071407 cellular response to organic cyclic compound GO:1900017 positive regulation of cytokine production involved in inflammatory response GO:1901224 positive regulation of NIK/NF-kappaB signaling GO:1902523 positive regulation of protein K63-linked ubiquitination GO:2000110 negative regulation of macrophage apoptotic process GO:2000363 positive regulation of prostaglandin-E synthase activity
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
