NOD2 (Q9HC29) variants and mutations

NOD2 (also known as Q9HC29) is a human protein-coding gene encoding a nucleotide-binding oligomerization domain-containing protein 2 protein. It detects bacterial muramyl dipeptide in the cytosol and activates antimicrobial and inflammatory responses. Common loss-of-function variants strongly increase Crohn-disease susceptibility, whereas distinct gain-of-function variants cause Blau syndrome. This analysis covers 749 NOD2 variants and mutations. Of these, 73% have computational variant effect predictions. Disease context includes Blau syndrome, inflammatory bowel disease 1, and Crohn disease. Example NOD2 variants include M1I, M1T, and M1V.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable NOD2 variants

Examples include M1I, M1T, M1V, G2W, G2R, G2E, G2G, E3Q. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.