Gene Symbol | NOD2 |
Entrez Gene ID | 64127 |
Full Name | nucleotide binding oligomerization domain containing 2 |
Synonyms | ACUG,BLAU,BLAUS,CARD15,CD,CLR16.3,IBD1,NLRC2,NOD2B,PSORAS1,YAOS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | {Inflammatory bowel disease 1, Crohn disease}, 266600 (3); Blau syndrome, 186580 (3); {Yao syndrome}, 617321 (3); {Psoriatic arthritis, susceptibility to}, 607507 (2) |