About: NOD2 wt Allele     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • NOD2 wt Allele
rdfs:subClassOf
OMIM_Number
  • 605956
GenBank_Accession_Number
  • AF178930
Semantic_Type
  • Gene or Genome
Preferred_Name
  • NOD2 wt Allele
UMLS_CUI
  • C2698415
EntrezGene_ID
  • 64127
Legacy_Concept_Name
  • NOD2_wt_Allele
HGNC_ID
  • HGNC:5331
FULL_SYN
  • CDSYNCI
  • NOD2 wt AllelePTNCI
  • Nucleotide-Binding Oligomerization Domain Containing 2 wt AlleleSYNCI
  • IBD1SYNCI
  • ACUGSYNCI
  • BLAUSYNCI
  • NOD2BSYNCI
  • NLRC2SYNCI
  • CARD15SYNCI
  • CLR16.3SYNCI
  • PSORAS1SYNCI
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.NCISwissProt
DesignNote
  • The NOD2 gene product interacts with the RIPK2 gene product. (SwissProt)
code
  • C74448
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