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, an intracellular receptor that detects bacterial peptidoglycans and initiates immune signaling pathways. It plays a key role in defending mucosal barriers, especially in the gastrointestinal tract.
Mutations in NOD2 are associated with increased susceptibility to Crohn’s disease and other inflammatory bowel disorders, due to impaired recognition of microbial patterns and dysregulated immune responses in the gut.
SNP ID | Your Genotype | Alternative Alleles | Interpretation |
|---|---|---|---|
rs2066844 | No matching variant or no valid DNA data | T | No interpretation available |
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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