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nucleotide-binding oligomerization domain-containing protein 2; caspase recruitment domain-containing protein 15; inflammatory bowel disease protein 1 (NOD2, CARD15, IBD1)
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: cytoplasm
Alternative initiation: named isoforms=2
Expression: monocytes-specific
Pathology:
- defects in NOD2 are the cause of
a) Blau syndrome
b) sarcoidosis early-onset
- defects in NOD2 are a cause of susceptibility to inflammatory bowel disease type 1 (IBD1)
Related
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
General
caspase recruitment domain protein (CARD protein)
leucine-rich repeat-containing protein (LRRC)
Properties
SIZE: entity length = 1040 aa
MW = 115 kD
COMPARTMENT: cytoplasm
MOTIF: CARD domain {26-122}
CARD domain {126-218}
NACHT domain
NAME: NACHT domain
SITE: 293-618
MOTIF: ATP-binding site
NAME: ATP-binding site
SITE: 299-306
leucine-rich repeat
SITE: 786-812
MOTIF: leucine residue (SEVERAL)
leucine-rich repeat
SITE: 814-837
MOTIF: leucine residue (SEVERAL)
leucine-rich repeat
SITE: 842-865
MOTIF: leucine residue (SEVERAL)
leucine-rich repeat
SITE: 926-949
MOTIF: leucine residue (SEVERAL)
leucine-rich repeat
SITE: 954-977
MOTIF: leucine residue (SEVERAL)
leucine-rich repeat
SITE: 982-1005
MOTIF: leucine residue (SEVERAL)
Database Correlations
OMIM correlations
MORBIDMAP 605956
UniProt Q9HC29
Pfam PF00619
Entrez Gene 64127
Kegg hsa:64127
References
- UniProt :accession Q9HC29
- 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