Details for Gene NOD2

GENE NAME NOD2
CHROMOSOME 16
ENSEMBL ID None
ENTREZ ID ENSG00000167207
UNIPROT ACCESSION NUMBER Q9HC29
GO MOLECULAR FUNCTION ['muramyl dipeptide binding', 'enzyme binding', 'pattern recognition receptor activity', 'protein kinase binding', 'peptidoglycan binding', 'protein binding', 'CARD domain binding', 'protein-containing complex binding', 'actin binding', 'Hsp70 protein binding', 'Hsp90 protein binding', 'ATP binding']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa04621; hsa04668; hsa05152; hsa05321; R-HSA-1280215; R-HSA-166016; R-HSA-166058; R-HSA-166166; R-HSA-168138; R-HSA-168142; R-HSA-168164; R-HSA-168176; R-HSA-168179; R-HSA-168181; R-HSA-168188; R-HSA-168249; R-HSA-168256; R-HSA-168638; R-HSA-168643; R-HSA-168898; R-HSA-181438; R-HSA-392499; R-HSA-445989; R-HSA-446652; R-HSA-448424; R-HSA-449147; R-HSA-450294; R-HSA-450302; R-HSA-450321; R-HSA-5688426; R-HSA-5689896; R-HSA-597592; R-HSA-9020702; R-HSA-937061; R-HSA-975138; R-HSA-975155; R-HSA-975871
42 combinations linked to NOD2 OLI1750; OLI1775; OLI1779; OLI1783; OLI1786; OLI1772; OLI1776; OLI1781; OLI1768; OLI1780; OLI1762; OLI1759; OLI1784; OLI1753; OLI1767; OLI1785; OLI1751; OLI1765; OLI1763; OLI1754; OLI1760; OLI1788; OLI1771; OLI1782; OLI1757; OLI1764; OLI1758; OLI1769; OLI1756; OLI1774; OLI1789; OLI1752; OLI1777; OLI1770; OLI130; OLI1773; OLI1761; OLI1778; OLI1766; OLI1755; OLI1787; OLI1241
15 variants linked to NOD2 NOD2:c.2857A>G, p.Lys953Glu; NOD2:c.1190C>T, p.Pro397Leu; NOD2:c.2798+158C>T, ; NOD2:c.3019dup, p.Leu1007fs; NOD2:c.2174C>G, p.Ala725Gly; NOD2:c.460G>A, p.Asp154Asn; NOD2:c.2372G>A, p.Arg791Gln; NOD2:c.2104C>T, p.Arg702Trp; NOD2:c.2863G>A, p.Val955Ile; NOD2:c.2722G>C, p.Gly908Arg; NOD2:c.2003C>T, p.Pro668Leu; NOD2:c.259C>T, p.Arg87Cys; NOD2:c.866A>G, p.Asn289Ser; NOD2:c.1292C>T, p.Ser431Leu; NOD2:c.2377G>A, p.Val793Met
3 diseases linked to NOD2 Autoinflammatory syndrome; Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome; Niemann-Pick disease type C
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