NOD2
is a | gene |
is | mentioned by |
Full name | nucleotide-binding oligomerization domain containing 2 |
EntrezGene | 64127 |
PheGenI | 64127 |
VariationViewer | 64127 |
ClinVar | NOD2 |
GeneCards | NOD2 |
dbSNP | 64127 |
Diseases | NOD2 |
SADR | 64127 |
HugeNav | 64127 |
wikipedia | NOD2 |
NOD2 | |
gopubmed | NOD2 |
EVS | NOD2 |
HEFalMp | NOD2 |
MyGene2 | NOD2 |
23andMe | NOD2 |
UniProt | Q9HC29 |
Ensembl | ENSG00000167207 |
OMIM | 605956 |
# SNPs | 29 |
Max Magnitude | Chromosome position | Summary | |
---|---|---|---|
rs104895431 | 0 | 50,711,203 | |
rs104895438 | 0 | 50,711,745 | |
rs104895444 | 0 | 50,712,288 | |
rs104895460 | 0 | 50,711,316 | |
rs104895461 | 0 | 50,710,912 | |
rs104895462 | 0 | 50,710,911 | |
rs104895472 | 0 | 50,711,398 | |
rs104895476 | 0 | 50,711,057 | |
rs104895477 | 0 | 50,711,058 | |
rs1077861 | 0 | 50,725,636 | |
rs17221417 | 2 | 50,705,671 | |
rs17313265 | 0 | 50,713,793 | |
rs2066842 | 0 | 50,710,713 | |
rs2066843 | 2 | 50,711,288 | |
rs2066844 | 3.1 | 50,712,015 | |
rs2066845 | 4 | 50,722,629 | |
rs2066847 | 4 | 50,729,867 | |
rs2067085 | 0 | 50,699,948 | |
rs2076756 | 0 | 50,722,970 | |
rs3135499 | 0 | 50,732,216 | |
rs3135500 | 0 | 50,732,975 | |
rs34936594 | 0 | 50,699,655 | |
rs5743277 | 0 | 50,712,018 | |
rs5743289 | 1 | 50,722,863 | |
rs5743293 | 0 | 50,729,870 | |
rs746055479 | 0 | 50,712,108 | |
rs752615209 | 0 | 50,710,956 | |
rs8057341 | 0 | 50,704,069 | |
rs886040969 | 0 | 50,712,357 |
[PMID 17568627] NOD2 3020insC (either rs2066847 or rs5743293) is the most common and highest risk variant in Crohn's disease.
[PMID 18371140] Carriers of any of several NOD2 variant SNPs do not respond well to treatment of perianal fistulating Crohn's disease by the antibiotics ciprofloxacin or metronidazole, whereas carriers of wild-type NOD2 genes have at least some chance (1 in 3) of responding well.
[PMID 17724347] NOD2/CARD15 SNP variants are associated with an increased risk of relapse and death for patients with acute leukemia after hematopoietic stem-cell transplantation (HSCT) with unrelated donors as compared with wild-type pairs. NOD2/CARD15 genotyping before transplantation may contribute to prognosis and influence clinical management.
[PMID 18756601] No association was found for NOD2/CARD15 SNPs (R702W, G908R) in Chinese patients with inflammatory bowel disease.
The 23andMe blog 23andme blog reports that the C allele at rs9302752, a SNP in the NOD2 gene, is associated with greater susceptibility to leprosy in Asians (odds ratio 1.59).
[PMID 11385576] These observations suggest that the NOD2 gene product confers susceptibility to Crohn's disease by altering the recognition of these components and/or by over-activating NF-kB in monocytes, thus documenting a molecular model for the pathogenic mechanism of Crohn's disease that can now be further investigated.