NOD2: Induces NF-kappa-B via RICK (CARDIAK, RIP2) and IKK- gamma. Confers responsiveness to intracellular bacterial lipopolysaccharides (LPS). Defects in NOD2 are the cause of Blau syndrome (BS). BS is a rare autosomal dominant disorder characterized by early-onset granulomatous arthritis, uveitis and skin rash. Defects in NOD2 are a cause of susceptibility to inflammatory bowel disease type 1 (IBD1). 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. Defects in NOD2 are the cause of sarcoidosis early-onset (EOS). 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. 2 isoforms of the human protein are produced by alternative initiation.
Cellular Component: signalosome; cytoskeleton; protein complex; cell surface; cytoplasm; plasma membrane; intracellular; cytosol; vesicle
Molecular Function: endodeoxyribonuclease activity, producing 5'-phosphomonoesters; peptidoglycan binding; protein binding; enzyme binding; CARD domain binding; nucleotide binding; protein kinase binding; ATP binding; muramyl dipeptide binding
Biological Process: maintenance of gastrointestinal epithelium; positive regulation of dendritic cell antigen processing and presentation; response to lipopolysaccharide; positive regulation of interleukin-1 beta secretion; positive regulation of interleukin-10 production; negative regulation of interleukin-2 production; activation of NF-kappaB transcription factor; regulation of apoptosis; positive regulation of phagocytosis; detection of muramyl dipeptide; cytokine production during immune response; detection of biotic stimulus; positive regulation of oxidoreductase activity; positive regulation of interleukin-17 production; negative regulation of interleukin-12 production; positive regulation of T-helper 2 type immune response; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of dendritic cell cytokine production; positive regulation of interleukin-6 production; positive regulation of tumor necrosis factor production; protein oligomerization; negative regulation of interleukin-18 production; positive regulation of peptidyl-tyrosine phosphorylation; defense response to Gram-positive bacterium; innate immune response in mucosa; response to muramyl dipeptide; inhibition of NF-kappaB transcription factor; positive regulation of B cell activation; defense response to bacterium; positive regulation of transcription from RNA polymerase II promoter; positive regulation of epithelial cell proliferation; negative regulation of T cell mediated immunity; positive regulation of nitric-oxide synthase biosynthetic process; activation of immune response; detection of bacterium; positive regulation of interleukin-12 production; positive regulation of JNK cascade; defense response; signal transduction; positive regulation of stress-activated MAPK cascade; response to exogenous dsRNA; positive regulation of MAPKKK cascade; response to peptidoglycan; negative regulation of interferon-gamma production; positive regulation of innate immune response; positive regulation of cell proliferation; negative regulation of inflammatory response to antigenic stimulus; inflammatory response; positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria; positive regulation of Notch signaling pathway; positive regulation of humoral immune response mediated by circulating immunoglobulin; positive regulation of antibacterial peptide biosynthetic process; immune system process; negative regulation of toll-like receptor 2 signaling pathway; positive regulation of phosphoinositide 3-kinase activity; negative regulation of tumor necrosis factor production; immunoglobulin production during immune response; positive regulation of interleukin-1 beta production; positive regulation of protein ubiquitination; regulation of inflammatory response; innate immune response
Show more