NOD2 nucleotide binding oligomerization domain containing 2
Gene ID: 64127, updated on 4-Jan-2025Gene type: protein coding
Also known as: CD; ACUG; BLAU; IBD1; YAOS; BLAUS; NLRC2; NOD2B; CARD15; CLR16.3; PSORAS1
- See all available tests in GTR for this gene
- Go to complete Gene record for NOD2
- Go to Variation Viewer for NOD2 variants
Summary
This gene is a member of the Nod1/Apaf-1 family and encodes a protein with two caspase recruitment (CARD) domains and six leucine-rich repeats (LRRs). The protein is primarily expressed in the peripheral blood leukocytes. It plays a role in the immune response to intracellular bacterial lipopolysaccharides (LPS) by recognizing the muramyl dipeptide (MDP) derived from them and activating the NFKB protein. Mutations in this gene have been associated with Crohn disease and Blau syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. GeneReviews: Not available | |
| A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300. GeneReviews: Not available | |
| A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. GeneReviews: Not available | |
| Blau syndrome | See labs |
| Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy. GeneReviews: Not available | |
| Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease. GeneReviews: Not available | |
| Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. GeneReviews: Not available | |
| Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci. GeneReviews: Not available | |
| Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. GeneReviews: Not available | |
| Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. GeneReviews: Not available | |
| Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. GeneReviews: Not available | |
| Genomewide association study of leprosy. GeneReviews: Not available | |
| Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. GeneReviews: Not available | |
| Inflammatory bowel disease 1 | See labs |
| Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease. GeneReviews: Not available | |
| Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4. GeneReviews: Not available | |
| Systematic association mapping identifies NELL1 as a novel IBD disease gene. GeneReviews: Not available | |
| Yao syndrome | See labs |
Genomic context
- Location:
- 16q12.1
- Sequence:
- Chromosome: 16; NC_000016.10 (50693606..50733075)
- Total number of exons:
- 18
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NOD2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- NOD2 database
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- The registry of NOD2 sequence variants
- Variation ViewerRelated Variants
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