Primary Info
Mouse studies
DNA sequencing

mRNA IDs Primary Information
NM_022162.1 Gene Symbol NOD2
Protein Name Nucleotide-binding oligomerization domain containing 2
Alternate Names ACUG, BLAU, CARD15, CD, CLR16.3, IBD1, NLRC2, NOD2B, PSORAS1
Gene Locus 16q21

External links
IDR HPRD OMIM Entrez Gene NetPath Reactome PDB HGNC Ensembl Swiss-Prot RefDIC
145, 146 05810 605956 64127 64127 -
5331 ENSG00000167207 Q9HC29 NOD2

Disease name Characteristic / Associated features Category inheritance type
Blau syndrome and Crohns disease Uveitis; Iritis; multifocal choroiditis; cataract; glaucoma; band keratopathy; cystoid macular edema; optic disc edema; granulomatous synovitis; granulomatous arthritis; synovial cysts; joint swelling; joint contractures; tendinitis; camptodactyly (hands); flexion contractures of the toes; granulomatous dermatitis; intermittent generalized erythematous papular rash; skin ulceration; ankylosing spondylitis Autoinflammatory Disorders Autosomal dominant
Blau syndrome and Crohns disease Weight loss; recurrent aphthous stomatitis; abdominal pain; diarrhea; intestinal obstruction; esophageal stricture; gastrointestinal fistula; transmural granulomatous inflammation with 'skip lesions'; ulcerative colitis Autoinflammatory Disorders Multifactorial