NOD2 Antibody – Mouse Monoclonal

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. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

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.

Chromosomal Location of Human Ortholog: 16q12.1

Cellular Component: basolateral plasma membrane; cell surface; cytoplasm; cytoskeleton; cytosol; plasma membrane; protein complex; signalosome; vesicle

Molecular Function: actin binding; CARD domain binding; enzyme binding; Hsp70 protein binding; Hsp90 protein binding; muramyl dipeptide binding; peptidoglycan binding; protein binding; protein kinase binding

Biological Process: activation of MAPK activity; activation of NF-kappaB transcription factor; cytokine production during immune response; cytokine secretion during immune response; defense response; defense response to bacterium; detection of bacterium; detection of biotic stimulus; detection of muramyl dipeptide; innate immune response; JNK cascade; maintenance of gastrointestinal epithelium; positive regulation of B cell activation; positive regulation of dendritic cell antigen processing and presentation; positive regulation of epithelial cell proliferation; positive regulation of gamma-delta T cell activation; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of interleukin-1 beta production; positive regulation of interleukin-1 beta secretion; positive regulation of interleukin-10 production; positive regulation of interleukin-17 production; positive regulation of interleukin-6 production; positive regulation of interleukin-8 production; positive regulation of JNK cascade; positive regulation of nitric-oxide synthase biosynthetic process; positive regulation of Notch signaling pathway; positive regulation of oxidoreductase activity; positive regulation of phosphoinositide 3-kinase activity; positive regulation of stress-activated MAPK cascade; positive regulation of T-helper 2 type immune response; positive regulation of transcription from RNA polymerase II promoter; positive regulation of tumor necrosis factor production; protein oligomerization; regulation of inflammatory response; response to muramyl dipeptide

Disease: Blau Syndrome; Inflammatory Bowel Disease 1; Psoriatic Arthritis, Susceptibility To; Sarcoidosis, Early-onset