NOD2
NOD2 (nucleotide-binding oligomerization domain containing 2)
Gene Number: 64127
Location: 16q12.1
Key Functions: Bacterial recognition, innate immune activation, inflammation regulation, gut immune defense
NOD2 encodes nucleotide-binding oligomerization domain-containing protein 2 (NOD2), an intracellular pattern recognition receptor (PRR) that plays a critical role in the innate immune system’s detection of bacterial pathogens. NOD2 is primarily expressed in monocytes, macrophages, dendritic cells, and intestinal epithelial cells, where it serves as a cytosolic sensor of muramyl dipeptide (MDP)—a conserved structural motif derived from bacterial peptidoglycan. By detecting this molecular signature, NOD2 acts as a sentinel for microbial invasion, triggering signaling cascades that promote immune activation and inflammation in defense of mucosal barriers, particularly within the gastrointestinal tract [R].
SNP ID | Your Genotype | Alternative Alleles | Interpretation |
|---|---|---|---|
rs2066844 | Analyze your DNA to see your genotype | T | Analyze your DNA to see a personalized result. |
rs2066844
CC –Arg/Arg; typical immune regulation and baseline Crohn’s disease (CD) risk (R).
CT –Arg/Trp; approximately 2× higher risk for Crohn’s disease compared to CC (R).
TT – Trp/Trp; rarer genotype, with possibly up to ~3× increased CD risk, though evidence is less definitive (R).
Functional effect: The T allele (Trp702) affects the NOD2 receptor’s ability to sense bacterial components and activate NF-κB and autophagy. This loss of function impairs bacterial clearance in the intestinal lining, which increases chronic inflammation and susceptibility to Crohn’s disease (R).
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