NOD2 Chromosome 16
Nucleotide binding oligomerization domain containing 2
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What This Gene Does
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]
Gene Info
Gene Group
"NLR family|Caspase recruitment domain containing"
Locus Type
gene with protein product
Location
16q12.1
Ensembl
ENSG00000167207
Associated Conditions (17)
Blau syndrome
Autoinflammatory syndrome
Inflammatory bowel disease 1
Regional enteritis
Ovarian serous cystadenocarcinoma
Yao syndrome
NOD2-related disorder
Psoriatic arthritis
susceptibility to
Inborn genetic diseases
Thymoma
Dilated cardiomyopathy 1G
Crohn disease
Crohn’s Disease
Behcet disease
Leprosy
1
Key Variants
RS104895421
Conflicting classifications of pathogenicity
Blau syndrome, Autoinflammatory syndrome, Inflammatory bowel disease 1
Health Risk
RS104895422
Conflicting classifications of pathogenicity
Blau syndrome, Autoinflammatory syndrome, Inflammatory bowel disease 1
Health Risk
RS104895423
Conflicting classifications of pathogenicity
Blau syndrome, Autoinflammatory syndrome, Regional enteritis
Health Risk
RS104895425
Conflicting classifications of pathogenicity
Blau syndrome, Inflammatory bowel disease 1, Regional enteritis
Health Risk
RS104895427
Conflicting classifications of pathogenicity
Blau syndrome, Yao syndrome, Inflammatory bowel disease 1
Health Risk
RS104895430
Conflicting classifications of pathogenicity
Blau syndrome, Inflammatory bowel disease 1, Autoinflammatory syndrome
Health Risk
RS104895431
Conflicting classifications of pathogenicity
Blau syndrome, Inflammatory bowel disease 1, Autoinflammatory syndrome
Health Risk
RS104895432
Conflicting classifications of pathogenicity
Blau syndrome, Inflammatory bowel disease 1, Regional enteritis
Health Risk
RS104895434
Conflicting classifications of pathogenicity
Blau syndrome, Inflammatory bowel disease 1, Regional enteritis
Health Risk
RS104895438
Conflicting classifications of pathogenicity
Blau syndrome, Inflammatory bowel disease 1, Psoriatic arthritis
Health Risk
RS104895443
Conflicting classifications of pathogenicity
Blau syndrome, Inflammatory bowel disease 1, Autoinflammatory syndrome
Health Risk
RS104895452
Conflicting classifications of pathogenicity
Blau syndrome, Inflammatory bowel disease 1, Autoinflammatory syndrome
Health Risk
All Variants (150)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS61747625 | Health Risk | Conflicting classifications of pathogenicity | Blau syndrome, Inflammatory bowel disease 1, Psoriatic arthritis |
| RS61755182 | Health Risk | Conflicting classifications of pathogenicity | Blau syndrome, Inflammatory bowel disease 1, Autoinflammatory syndrome |
| RS745991254 | Health Risk | Conflicting classifications of pathogenicity | Regional enteritis, Blau syndrome, Regional enteritis |
| RS749142500 | Health Risk | Conflicting classifications of pathogenicity | Autoinflammatory syndrome, Regional enteritis, Blau syndrome |
| RS749180535 | Health Risk | Conflicting classifications of pathogenicity | Blau syndrome, Inflammatory bowel disease 1, Regional enteritis |
| RS749605438 | Health Risk | Conflicting classifications of pathogenicity | Blau syndrome, Regional enteritis, Blau syndrome |
| RS753458507 | Health Risk | Conflicting classifications of pathogenicity | Blau syndrome, Regional enteritis, Inborn genetic diseases |
| RS753744335 | Health Risk | Conflicting classifications of pathogenicity | Autoinflammatory syndrome, Regional enteritis, Blau syndrome |
| RS756943416 | Health Risk | Conflicting classifications of pathogenicity | Blau syndrome, Inflammatory bowel disease 1, Inborn genetic diseases |
| RS758223679 | Health Risk | Conflicting classifications of pathogenicity | Blau syndrome, Inflammatory bowel disease 1, Regional enteritis |
| RS758913334 | Health Risk | Conflicting classifications of pathogenicity | Blau syndrome, Inflammatory bowel disease 1, Inborn genetic diseases |
| RS759227592 | Health Risk | Conflicting classifications of pathogenicity | Autoinflammatory syndrome, Regional enteritis, Blau syndrome |
| RS759456303 | Health Risk | Conflicting classifications of pathogenicity | Autoinflammatory syndrome, Blau syndrome, Regional enteritis |
| RS760069458 | Health Risk | Conflicting classifications of pathogenicity | Regional enteritis, Blau syndrome, Regional enteritis |
| RS763504952 | Health Risk | Conflicting classifications of pathogenicity | Blau syndrome, Inflammatory bowel disease 1, Regional enteritis |
| RS764244331 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Regional enteritis, Blau syndrome |
| RS766614906 | Health Risk | Conflicting classifications of pathogenicity | Autoinflammatory syndrome, Regional enteritis, Blau syndrome |
| RS769622495 | Health Risk | Conflicting classifications of pathogenicity | Autoinflammatory syndrome, Regional enteritis, Blau syndrome |
| RS770915641 | Health Risk | Conflicting classifications of pathogenicity | Blau syndrome, Inflammatory bowel disease 1, Regional enteritis |
| RS773758818 | Health Risk | Conflicting classifications of pathogenicity | Blau syndrome, Inflammatory bowel disease 1, Regional enteritis |
| RS774703072 | Health Risk | Conflicting classifications of pathogenicity | Regional enteritis, Blau syndrome, Inborn genetic diseases |
| RS774888496 | Health Risk | Conflicting classifications of pathogenicity | Regional enteritis, Blau syndrome, Regional enteritis |
| RS775281342 | Health Risk | Conflicting classifications of pathogenicity | Blau syndrome, Inflammatory bowel disease 1, Regional enteritis |
| RS775728252 | Health Risk | Conflicting classifications of pathogenicity | Autoinflammatory syndrome, Regional enteritis, Blau syndrome |
| RS777798807 | Health Risk | Conflicting classifications of pathogenicity | Blau syndrome, Inflammatory bowel disease 1, Regional enteritis |
| RS777949388 | Health Risk | Conflicting classifications of pathogenicity | Blau syndrome, Inflammatory bowel disease 1, Regional enteritis |
| RS779346494 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Blau syndrome, Regional enteritis |
| RS77966199 | Health Risk | Conflicting classifications of pathogenicity | Blau syndrome, Inflammatory bowel disease 1, Regional enteritis |
| RS104895467 | Health Risk | Conflicting classifications of pathogenicity; association | Blau syndrome, Inflammatory bowel disease 1, Autoinflammatory syndrome |
| RS2066844 | Health Risk | Conflicting classifications of pathogenicity; association | Blau syndrome, Yao syndrome, Inflammatory bowel disease 1 |
| RS2066847 | Health Risk | Conflicting classifications of pathogenicity; association | Yao syndrome, Blau syndrome, Inflammatory bowel disease 1 |
| RS104895461 | Health Risk | Likely pathogenic | Blau syndrome, Regional enteritis, Blau syndrome |
| RS2150810705 | Health Risk | Likely pathogenic | Blau syndrome, Blau syndrome |
| RS925816831 | Health Risk | Likely pathogenic | Autoinflammatory syndrome, Autoinflammatory syndrome |
| RS104895460 | Health Risk | Pathogenic | Blau syndrome, Blau syndrome |
| RS104895462 | Health Risk | Pathogenic | Blau syndrome, Regional enteritis, Blau syndrome |
| RS104895472 | Health Risk | Pathogenic | Blau syndrome, Blau syndrome |
| RS104895475 | Health Risk | Pathogenic | Blau syndrome, Regional enteritis, Blau syndrome |
| RS104895476 | Health Risk | Pathogenic | Blau syndrome, Regional enteritis, Blau syndrome |
| RS104895477 | Health Risk | Pathogenic | Blau syndrome, Regional enteritis, Blau syndrome |
| RS104895478 | Health Risk | Pathogenic | Blau syndrome, Blau syndrome |
| RS104895494 | Health Risk | Pathogenic | Blau syndrome, Regional enteritis, Blau syndrome |
| RS1264862631 | Health Risk | Pathogenic | Inflammatory bowel disease 1, Inflammatory bowel disease 1 |
| RS2506403400 | Health Risk | Pathogenic | Regional enteritis, Blau syndrome, Regional enteritis |
| RS746055479 | Health Risk | Pathogenic | Behcet disease, Behcet disease |
| RS752615209 | Health Risk | Pathogenic | Behcet disease, Behcet disease |
| RS886040969 | Health Risk | Pathogenic | Behcet disease, Behcet disease |
| RS104895473 | Health Risk | Pathogenic/Likely pathogenic | Blau syndrome, Regional enteritis, Blau syndrome |
| RS104895479 | Health Risk | Pathogenic/Likely pathogenic | Blau syndrome, Regional enteritis, Blau syndrome |
| RS2111234 | Health Risk | Uncertain risk allele | Leprosy, susceptibility to, 1 |