NOD2 wt Allele

Preferred Label : NOD2 wt Allele;

NCIt synonyms : PSORAS1; CD; BLAU; CARD15; Nucleotide-Binding Oligomerization Domain Containing 2 wt Allele; IBD1; NOD2B; CLR16.3; ACUG; NLRC2;

NCIt definition : Human NOD2 wild-type allele is located in the vicinity of 16q21 and is approximately 36 kb in length. This allele, which encodes nucleotide-binding oligomerization domain-containing protein 2, plays a role in the modulation of both cell death and immune response. Mutation of the gene is associated with Blau syndrome, Crohn disease, ulcerative colitis, and early-onset sarcoidosis.;

NCIt note : The NOD2 gene product interacts with the RIPK2 gene product. (SwissProt);

GenBank Accession Number : AF178930;

Details

Origin ID

C74448;

UMLS CUI

C2698415;

False automatic mappings
- Celiac disease [ORDO Disease]
- Chanarin-dorfman syndrome [OMIM Phenotype]
OMIM relation
- Nucleotide-binding oligomerization domain protein 2 [OMIM gene]
See also inter- (CISMeF)
- Blau syndrome [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 16q21 [NCIt concept]
gene_plays_role_in_process
- Apoptosis [NCIt concept]
- Caspase-Dependent Apoptosis [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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