nucleotide-binding oligomerization domain-containing protein 2; caspase recruitment domain-containing protein 15; inflammatory bowel disease protein 1 (NOD2, CARD15, IBD1)
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Function
- induces NF-kappa-B via RICK (CARDIAK, RIP2) & IKK-gamma
- confers responsiveness to intracellular bacterial lipopolysaccharides (LPS)
- binds to RIPK2/RICK by CARD-CARD interaction
Structure
- contains 2 CARD domains
- contains 6 LRR repeats (leucine-rich repeats)
- contains 1 NACHT domain
Compartment
Alternative initiation
named isoforms=2
Expression
monocytes-specific
Pathology
- defects in NOD2 are the cause of
- defects in NOD2 are a cause of susceptibility to inflammatory bowel disease type 1 (IBD1)
More general terms
Additional terms
- arthrocutaneouveal granulomatosis (ACUG); granulomatous synovitis with uveitis & cranial neuropathies; familial juvenile systemic granulomatosis; Jabs syndrome; Blau syndrome; familial granulomatous inflammatory arthritis, dermatitis & uveitis
- Crohn's disease; terminal ileitis; regional enteritis; granulomatous enteritis; chronic cicatrizing enteritis
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q9HC29.html
- ↑ INFEVERS; Note: repertory of FMF & hereditary autoinflammatory disorders mutations http://fmf.igh.cnrs.fr/ISSAID/infevers/disease_menu.php?n=6
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/NOD2
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=64127
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:64127
- OMIM: https://mirror.omim.org/entry/186580
- OMIM: https://mirror.omim.org/entry/266600
- OMIM: https://mirror.omim.org/entry/605956
- OMIM: https://mirror.omim.org/entry/609464
- UniProt: http://www.uniprot.org/uniprot/Q9HC29.html