NOD2 Chromosome 16

Nucleotide binding oligomerization domain containing 2
150 variants 150 Health Risk

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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
RS149390911 Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 1, Autoinflammatory syndrome, Blau syndrome
RS149870902 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1, Regional enteritis
RS150078153 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1, Autoinflammatory syndrome
RS151315883 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Regional enteritis, Autoinflammatory syndrome
RS184545855 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1, Blau syndrome
RS187264529 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1, Autoinflammatory syndrome
RS1963835517 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Blau syndrome, Regional enteritis
RS1964520477 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Regional enteritis, Inflammatory bowel disease 1
RS199475923 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1, Blau syndrome
RS199951979 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Regional enteritis, Blau syndrome
RS200035357 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1, Autoinflammatory syndrome
RS201035873 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1, Autoinflammatory syndrome
RS201076024 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1, Autoinflammatory syndrome
RS201586544 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1, Regional enteritis
RS201759367 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1, Autoinflammatory syndrome
RS202052365 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Blau syndrome, Regional enteritis
RS202111813 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Blau syndrome, Regional enteritis
RS2066845 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Yao syndrome, Inflammatory bowel disease 1
RS2076754 Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 1, Autoinflammatory syndrome, Blau syndrome
RS2150808670 Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 1, Blau syndrome, Psoriatic arthritis
RS2150811696 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Blau syndrome, Regional enteritis
RS367819045 Health Risk Conflicting classifications of pathogenicity Regional enteritis, Blau syndrome, Inborn genetic diseases
RS367905706 Health Risk Conflicting classifications of pathogenicity Regional enteritis, Blau syndrome, NOD2-related disorder
RS369719210 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Regional enteritis, Blau syndrome
RS369766454 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1, Regional enteritis
RS369957746 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1, Regional enteritis
RS371044393 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Blau syndrome, Regional enteritis
RS371389581 Health Risk Conflicting classifications of pathogenicity Regional enteritis, Blau syndrome, Regional enteritis
RS373550987 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Regional enteritis, Blau syndrome
RS373812846 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1, Dilated cardiomyopathy 1G
RS375012324 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Regional enteritis, Blau syndrome
RS375201229 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Regional enteritis, Inflammatory bowel disease 1
RS375705174 Health Risk Conflicting classifications of pathogenicity Regional enteritis, Blau syndrome, Regional enteritis
RS375713299 Health Risk Conflicting classifications of pathogenicity Regional enteritis, Blau syndrome, Inborn genetic diseases
RS376601025 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Blau syndrome, Regional enteritis
RS377554134 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1, Autoinflammatory syndrome
RS527892258 Health Risk Conflicting classifications of pathogenicity Regional enteritis, Blau syndrome, Inborn genetic diseases
RS529640892 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1, Regional enteritis
RS534738790 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Regional enteritis, Blau syndrome
RS547264433 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1, Blau syndrome
RS560242309 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1, Regional enteritis
RS562972090 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1, Blau syndrome
RS570167996 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Regional enteritis, Inborn genetic diseases
RS571102620 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1, Regional enteritis
RS5743269 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1, Autoinflammatory syndrome
RS5743271 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1, Autoinflammatory syndrome
RS5743275 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1, Autoinflammatory syndrome
RS5743277 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1, Regional enteritis
RS5743289 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Yao syndrome, Autoinflammatory syndrome
RS576658764 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Regional enteritis, Blau syndrome
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