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    NOD2 nucleotide-binding oligomerization domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 64127, updated on 18-Jul-2015
    Official Symbol
    NOD2provided by HGNC
    Official Full Name
    nucleotide-binding oligomerization domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:5331
    See related
    Ensembl:ENSG00000167207; HPRD:05810; MIM:605956; Vega:OTTHUMG00000133171
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CD; ACUG; BLAU; IBD1; NLRC2; NOD2B; CARD15; CLR16.3; PSORAS1
    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]
    Orthologs
    See NOD2 in Epigenomics, MapViewer
    Location:
    16q21
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 16 NC_000016.10 (50693581..50733081)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (50727507..50766990)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene naked cuticle homolog 1 (Drosophila) Neighboring gene uncharacterized LOC101927272 Neighboring gene sorting nexin 20 Neighboring gene uncharacterized LOC102724907 Neighboring gene microRNA 3181 Neighboring gene cylindromatosis (turban tumor syndrome) Neighboring gene uncharacterized LOC105371251

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Blau syndrome
    MedGen: C1861303 OMIM: 186580 GeneReviews: Not available
    Compare labs
    Inflammatory bowel disease 1
    MedGen: C0678202 OMIM: 266600 GeneReviews: Not available
    Compare labs
    Psoriatic arthritis, susceptibility to
    MedGen: C1835223 OMIM: 607507 GeneReviews: Not available
    Compare labs
    Sarcoidosis, early-onset
    MedGen: C1836122 OMIM: 609464 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.
    NHGRI GWA Catalog
    A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.
    NHGRI GWA Catalog
    A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
    NHGRI GWA Catalog
    Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.
    NHGRI GWA Catalog
    Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease.
    NHGRI GWA Catalog
    Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
    NHGRI GWA Catalog
    Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.
    NHGRI GWA Catalog
    Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis.
    NHGRI GWA Catalog
    Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
    NHGRI GWA Catalog
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    NHGRI GWA Catalog
    Genomewide association study of leprosy.
    NHGRI GWA Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    NHGRI GWA Catalog
    Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.
    NHGRI GWA Catalog
    Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4.
    NHGRI GWA Catalog
    Systematic association mapping identifies NELL1 as a novel IBD disease gene.
    NHGRI GWA Catalog
    • Activated TLR4 signalling, organism-specific biosystem (from REACTOME)
      Activated TLR4 signalling, organism-specific biosystemTLR4 is unique among the TLR family in its ability to recruit four adapters to activate two distinct signaling pathways. One pathway is activated by the pair of the adapters Mal or TIRAP (Toll/inter...
    • Canonical NF-kappaB pathway, organism-specific biosystem (from Pathway Interaction Database)
      Canonical NF-kappaB pathway, organism-specific biosystem
      Canonical NF-kappaB pathway
    • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
      Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Inflammatory bowel disease (IBD), organism-specific biosystem (from KEGG)
      Inflammatory bowel disease (IBD), organism-specific biosystemInflammatory bowel disease (IBD), which includes Crohn disease (CD) and ulcerative colitis (UC), is characterized by chronic inflammation of the gastrointestinal tract due to environmental and geneti...
    • Inflammatory bowel disease (IBD), conserved biosystem (from KEGG)
      Inflammatory bowel disease (IBD), conserved biosystemInflammatory bowel disease (IBD), which includes Crohn disease (CD) and ulcerative colitis (UC), is characterized by chronic inflammation of the gastrointestinal tract due to environmental and geneti...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
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    • Interleukin-1 signaling, organism-specific biosystem (from REACTOME)
      Interleukin-1 signaling, organism-specific biosystemInterleukin 1 (IL1) signals via Interleukin 1 receptor 1 (IL1R1), the only signaling-capable IL1 receptor. This is a single chain type 1 transmembrane protein comprising an extracellular ligand bindi...
    • JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1, organism-specific biosystem (from REACTOME)
      JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1, organism-specific biosystemC-Jun NH2 terminal kinases (JNKs) are an evolutionarily conserved family of serine/threonine protein kinases, that belong to mitogen activated protein kinase family (MAPKs - also known as stress-acti...
    • MAP kinase activation in TLR cascade, organism-specific biosystem (from REACTOME)
      MAP kinase activation in TLR cascade, organism-specific biosystemThe mitogen activated protein kinase (MAPK) cascade, one of the most ancient and evolutionarily conserved signaling pathways, is involved in many processes of immune responses. The MAP kinases cascad...
    • MyD88 cascade initiated on plasma membrane, organism-specific biosystem (from REACTOME)
      MyD88 cascade initiated on plasma membrane, organism-specific biosystemMammalian myeloid differentiation factor 88 (MyD88) is Toll/interleukin (IL)-1 (TIR)-domain containing adapter protein which plays crucial role in TLR signaling. All TLRs, with only one exception of...
    • MyD88 dependent cascade initiated on endosome, organism-specific biosystem (from REACTOME)
      MyD88 dependent cascade initiated on endosome, organism-specific biosystemUpon binding of their ligands, TLR7/8 and TLR9 recruit a cytoplasmic adaptor MyD88 and IRAKs, downstream of which the signaling pathways are divided to induce either inflammatory cytokines or type I ...
    • MyD88-independent TLR3/TLR4 cascade, organism-specific biosystem (from REACTOME)
      MyD88-independent TLR3/TLR4 cascade, organism-specific biosystemMyD88-independent signaling pathway is shared by TLR3 and TLR4 cascades. TIR-domain-containing adapter-inducing interferon-beta (TRIF or TICAM1) is a key adapter molecule in transducing signals from ...
    • MyD88:Mal cascade initiated on plasma membrane, organism-specific biosystem (from REACTOME)
      MyD88:Mal cascade initiated on plasma membrane, organism-specific biosystemThe first known downstream component of TLR4 and TLR2 signaling is the adaptor MyD88. Another adapter MyD88-adaptor-like (Mal; also known as TIR-domain-containing adaptor protein or TIRAP) has also b...
    • NOD pathway, organism-specific biosystem (from WikiPathways)
      NOD pathway, organism-specific biosystemThe NOD (nucleotide-binding oligomerization domain) proteins NOD1 and NOD2 have important roles in innate immunity as sensors of microbial components derived from bacterial peptidoglycan. The importa...
    • NOD-like receptor signaling pathway, organism-specific biosystem (from KEGG)
      NOD-like receptor signaling pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
    • NOD-like receptor signaling pathway, conserved biosystem (from KEGG)
      NOD-like receptor signaling pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
    • NOD1/2 Signaling Pathway, organism-specific biosystem (from REACTOME)
      NOD1/2 Signaling Pathway, organism-specific biosystemNOD1 is ubiquitously expressed, while NOD2 expression is restricted to monocytes, macrophages, dendritic cells, and intestinal Paneth cells (Inohara et al. 2005). NOD1 and NOD2 activation induces tra...
    • Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways, organism-specific biosystem (from REACTOME)
      Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways, organism-specific biosystemThe innate immune system is the first line of defense against invading microorganisms, a broad specificity response characterized by the recruitment and activation of phagocytes and the release of an...
    • Shigellosis, organism-specific biosystem (from KEGG)
      Shigellosis, organism-specific biosystemShigellosis, or bacillary dysentery, is an intestinal infection caused by Shigella, a genus of enterobacteria. Shigella are potential food-borne pathogens that are capable of colonizing the intestina...
    • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
      Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
    • TAK1 activates NFkB by phosphorylation and activation of IKKs complex, organism-specific biosystem (from REACTOME)
      TAK1 activates NFkB by phosphorylation and activation of IKKs complex, organism-specific biosystemNF-kappaB is sequestered in the cytoplasm in a complex with inhibitor of NF-kappaB (IkB). Almost all NF-kappaB activation pathways are mediated by IkB kinase (IKK), which phosphorylates IkB resulting...
    • TNF signaling pathway, organism-specific biosystem (from KEGG)
      TNF signaling pathway, organism-specific biosystemTumor necrosis factor (TNF), as a critical cytokine, can induce a wide range of intracellular signal pathways including apoptosis and cell survival as well as inflammation and immunity. Activated TNF...
    • TNF signaling pathway, conserved biosystem (from KEGG)
      TNF signaling pathway, conserved biosystemTumor necrosis factor (TNF), as a critical cytokine, can induce a wide range of intracellular signal pathways including apoptosis and cell survival as well as inflammation and immunity. Activated TNF...
    • TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation, organism-specific biosystem (from REACTOME)
      TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation, organism-specific biosystemTRAF6 mediates NFkB activation via canonical phosphorylation of IKK complex by TAK1. TRAF6 and TAK1 also regulate MAPK cascades leading to the activation of AP-1.
    • TRIF-mediated TLR3/TLR4 signaling, organism-specific biosystem (from REACTOME)
      TRIF-mediated TLR3/TLR4 signaling, organism-specific biosystemTRIF(TICAM1) was shown to induce IRF3/7 and NF-?B activation and apoptosis through distinct intracellular signaling pathways [Han KJ et al 2004; Kaiser WJ and Offermann MK et al 2005]. TRIF consists...
    • Toll Like Receptor 10 (TLR10) Cascade, organism-specific biosystem (from REACTOME)
      Toll Like Receptor 10 (TLR10) Cascade, organism-specific biosystemLittle is known about TLR10 ligands. It has been established that the receptor homodimerizes upon binding and signals in an MyD88-dependent manner (Hasan U et al 2005; Nyman T et al 2008). It may als...
    • Toll Like Receptor 2 (TLR2) Cascade, organism-specific biosystem (from REACTOME)
      Toll Like Receptor 2 (TLR2) Cascade, organism-specific biosystemTLR2 is involved in recognition of peptidoglycan from gram-positive bacteria, bacterial lipoproteins, mycoplasma lipoprotein and mycobacterial products. It is quite possible that recognition of at le...
    • Toll Like Receptor 3 (TLR3) Cascade, organism-specific biosystem (from REACTOME)
      Toll Like Receptor 3 (TLR3) Cascade, organism-specific biosystemToll-like receptor 3 (TLR3) as was shown for mammals is expressed on myeloid dendritic cells, respiratory epithelium, macrophages, and appears to play a central role in mediating the antiviral and in...
    • Toll Like Receptor 4 (TLR4) Cascade, organism-specific biosystem (from REACTOME)
      Toll Like Receptor 4 (TLR4) Cascade, organism-specific biosystemToll-like Receptor 4 is a Microbe Associated Molecular Pattern receptor well known for it's sensitivity to Bacterial Lipopolysaccharides (LPS). LPS is assembled within diverse Gram-negative bacteria,...
    • Toll Like Receptor 5 (TLR5) Cascade, organism-specific biosystem (from REACTOME)
      Toll Like Receptor 5 (TLR5) Cascade, organism-specific biosystemTLR5 is the receptor for flagellin, the protein that forms bacterial flagella. Unlike most other Pathogen-Associated Molecular Patterns (PAMPs), flagellin does not undergo any posttranslational modif...
    • Toll Like Receptor 7/8 (TLR7/8) Cascade, organism-specific biosystem (from REACTOME)
      Toll Like Receptor 7/8 (TLR7/8) Cascade, organism-specific biosystemRNA can serve as a danger signal, both in its double-stranded form (that is associated with viral infection), as well as single-stranded RNA (ssRNA). Specifically, guanosine (G)- and uridine (U)-rich...
    • Toll Like Receptor 9 (TLR9) Cascade, organism-specific biosystem (from REACTOME)
      Toll Like Receptor 9 (TLR9) Cascade, organism-specific biosystemCpG DNA is an unusual Pathogen-Associated Molecular Pattern (PAMP). Cytosine methylation exists in mammalian but not bacterial cells, and most (but not all) CpG in the mammalian genome is methylated....
    • Toll Like Receptor TLR1:TLR2 Cascade, organism-specific biosystem (from REACTOME)
      Toll Like Receptor TLR1:TLR2 Cascade, organism-specific biosystemTLR1 is expressed by monocytes. TLR1 and TLR2 cotranslationally form heterodimeric complexes on the cell surface and in the cytosol. The TLR2:TLR1 complex recognizes Neisserial PorB and Mycobacterial...
    • Toll Like Receptor TLR6:TLR2 Cascade, organism-specific biosystem (from REACTOME)
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    • Tuberculosis, conserved biosystem (from KEGG)
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    • activated TAK1 mediates p38 MAPK activation, organism-specific biosystem (from REACTOME)
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    CARD domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Hsp70 protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Hsp90 protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    actin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    muramyl dipeptide binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptidoglycan binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    JNK cascade TAS
    Traceable Author Statement
    more info
     
    MyD88-dependent toll-like receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    MyD88-independent toll-like receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    TRIF-dependent toll-like receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    activation of MAPK activity TAS
    Traceable Author Statement
    more info
     
    activation of MAPK activity involved in innate immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to muramyl dipeptide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to muramyl dipeptide IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to peptidoglycan IEA
    Inferred from Electronic Annotation
    more info
     
    cytokine production involved in immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cytokine secretion involved in immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    defense response TAS
    Traceable Author Statement
    more info
    PubMed 
    defense response to Gram-positive bacterium IEA
    Inferred from Electronic Annotation
    more info
     
    defense response to bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    detection of bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    detection of biotic stimulus TAS
    Traceable Author Statement
    more info
    PubMed 
    detection of muramyl dipeptide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    immunoglobulin production involved in immunoglobulin mediated immune response IEA
    Inferred from Electronic Annotation
    more info
     
    innate immune response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    innate immune response NAS
    Non-traceable Author Statement
    more info
    PubMed 
    innate immune response TAS
    Traceable Author Statement
    more info
     
    innate immune response in mucosa IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    macrophage inflammatory protein-1 alpha production IEA
    Inferred from Electronic Annotation
    more info
     
    maintenance of gastrointestinal epithelium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of NF-kappaB transcription factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of T cell mediated immunity IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of growth of symbiont in host IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of inflammatory response to antigenic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of interferon-gamma production IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of interleukin-12 production IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of interleukin-18 production IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of interleukin-2 production IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of macrophage apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of toll-like receptor 2 signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of tumor necrosis factor production IEA
    Inferred from Electronic Annotation
    more info
     
    nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    nucleotide-binding oligomerization domain containing 2 signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleotide-binding oligomerization domain containing signaling pathway TAS
    Traceable Author Statement
    more info
     
    positive regulation of B cell activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of ERK1 and ERK2 cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of I-kappaB kinase/NF-kappaB signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of JNK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of NF-kappaB transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of NF-kappaB transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of NF-kappaB transcription factor activity TAS
    Traceable Author Statement
    more info
     
    positive regulation of NIK/NF-kappaB signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of Notch signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cytokine production involved in inflammatory response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of dendritic cell antigen processing and presentation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of epithelial cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of gamma-delta T cell activation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of humoral immune response mediated by circulating immunoglobulin IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of interleukin-1 beta production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of interleukin-1 beta secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of interleukin-10 production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of interleukin-12 production IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of interleukin-17 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of interleukin-6 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of interleukin-8 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of nitric-oxide synthase biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of oxidoreductase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of peptidyl-tyrosine phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of phagocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of phosphatidylinositol 3-kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of prostaglandin-E synthase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of prostaglandin-endoperoxide synthase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of stress-activated MAPK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of tumor necrosis factor production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of tumor necrosis factor production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of type 2 immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein oligomerization TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of inflammatory response IC
    Inferred by Curator
    more info
    PubMed 
    regulation of neutrophil chemotaxis IEA
    Inferred from Electronic Annotation
    more info
     
    response to exogenous dsRNA IEA
    Inferred from Electronic Annotation
    more info
     
    response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    response to muramyl dipeptide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to muramyl dipeptide IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    stress-activated MAPK cascade TAS
    Traceable Author Statement
    more info
     
    toll-like receptor 10 signaling pathway TAS
    Traceable Author Statement
    more info
     
    toll-like receptor 2 signaling pathway TAS
    Traceable Author Statement
    more info
     
    toll-like receptor 3 signaling pathway TAS
    Traceable Author Statement
    more info
     
    toll-like receptor 4 signaling pathway TAS
    Traceable Author Statement
    more info
     
    toll-like receptor 5 signaling pathway TAS
    Traceable Author Statement
    more info
     
    toll-like receptor 9 signaling pathway TAS
    Traceable Author Statement
    more info
     
    toll-like receptor TLR1:TLR2 signaling pathway TAS
    Traceable Author Statement
    more info
     
    toll-like receptor TLR6:TLR2 signaling pathway TAS
    Traceable Author Statement
    more info
     
    toll-like receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    colocalizes_with COP9 signalosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    nucleotide-binding oligomerization domain-containing protein 2
    Names
    NLR family, CARD domain containing 2
    NOD-like receptor C2
    caspase recruitment domain family, member 15
    caspase recruitment domain protein 15
    caspase recruitment domain-containing protein 15
    inflammatory bowel disease protein 1
    nucleotide-binding oligomerization domain 2
    nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007508.1 RefSeqGene

      Range
      5001..40939
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_177

    mRNA and Protein(s)

    1. NM_001293557.1NP_001280486.1  nucleotide-binding oligomerization domain-containing protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001280486.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks a portion of the 5' coding region, and initiates translation at a downstream AUG start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC007608, AF178930, HY272594
      UniProtKB/Swiss-Prot
      Q9HC29
      Conserved Domains (5) summary
      cd00116
      Location:7401005
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      pfam05729
      Location:266436
      NACHT; NACHT domain
      cd08788
      Location:107187
      CARD_NOD2_2_CARD15; Caspase activation and recruitment domain of NOD2, repeat 2
      sd00033
      Location:793817
      LRR_RI; leucine-rich repeat [structural motif]
      cl14633
      Location:792
      DD; Death Domain Superfamily of protein-protein interaction domains
    2. NM_022162.2NP_071445.1  nucleotide-binding oligomerization domain-containing protein 2 isoform 1

      See identical proteins and their annotated locations for NP_071445.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AF178930, HY272594
      Consensus CDS
      CCDS10746.1
      UniProtKB/Swiss-Prot
      Q9HC29
      Related
      ENSP00000300589, OTTHUMP00000164224, ENST00000300589, OTTHUMT00000256876
      Conserved Domains (6) summary
      COG4886
      Location:7951040
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      cd00116
      Location:7671032
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      pfam05729
      Location:293463
      NACHT; NACHT domain
      cd08788
      Location:134214
      CARD_NOD2_2_CARD15; Caspase activation and recruitment domain of NOD2, repeat 2
      sd00033
      Location:820844
      LRR_RI; leucine-rich repeat [structural motif]
      cl14633
      Location:34119
      DD; Death Domain Superfamily of protein-protein interaction domains

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

      Range
      50693581..50733081
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005256084.2XP_005256141.1  

      See identical proteins and their annotated locations for XP_005256141.1

      UniProtKB/Swiss-Prot
      Q9HC29
      Conserved Domains (5) summary
      cd00116
      Location:7401005
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      pfam05729
      Location:266436
      NACHT; NACHT domain
      cd08788
      Location:107187
      CARD_NOD2_2_CARD15; Caspase activation and recruitment domain of NOD2, repeat 2
      sd00033
      Location:793817
      LRR_RI; leucine-rich repeat [structural motif]
      cl14633
      Location:792
      DD; Death Domain Superfamily of protein-protein interaction domains
    2. XM_006721242.2XP_006721305.1  

      Conserved Domains (6) summary
      COG4886
      Location:768985
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      cd00116
      Location:753977
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      pfam05729
      Location:266436
      NACHT; NACHT domain
      cd08788
      Location:107187
      CARD_NOD2_2_CARD15; Caspase activation and recruitment domain of NOD2, repeat 2
      sd00033
      Location:793817
      LRR_RI; leucine-rich repeat [structural motif]
      cl14633
      Location:792
      DD; Death Domain Superfamily of protein-protein interaction domains
    3. XM_011523260.1XP_011521562.1  

      See identical proteins and their annotated locations for XP_011521562.1

      Conserved Domains (3) summary
      cd08787
      Location:792
      CARD_NOD2_1_CARD15; Caspase activation and recruitment domain of NOD2, repeat 1
      pfam05729
      Location:266436
      NACHT; NACHT domain
      cd08788
      Location:107187
      CARD_NOD2_2_CARD15; Caspase activation and recruitment domain of NOD2, repeat 2
    4. XM_006721243.2XP_006721306.1  

      See identical proteins and their annotated locations for XP_006721306.1

      Conserved Domains (3) summary
      cd08787
      Location:792
      CARD_NOD2_1_CARD15; Caspase activation and recruitment domain of NOD2, repeat 1
      pfam05729
      Location:266436
      NACHT; NACHT domain
      cd08788
      Location:107187
      CARD_NOD2_2_CARD15; Caspase activation and recruitment domain of NOD2, repeat 2
    5. XM_011523261.1XP_011521563.1  

      See identical proteins and their annotated locations for XP_011521563.1

      Conserved Domains (3) summary
      cd08787
      Location:792
      CARD_NOD2_1_CARD15; Caspase activation and recruitment domain of NOD2, repeat 1
      pfam05729
      Location:266436
      NACHT; NACHT domain
      cd08788
      Location:107187
      CARD_NOD2_2_CARD15; Caspase activation and recruitment domain of NOD2, repeat 2
    6. XM_011523258.1XP_011521560.1  

      See identical proteins and their annotated locations for XP_011521560.1

      Conserved Domains (3) summary
      cd00116
      Location:599864
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      pfam05729
      Location:125295
      NACHT; NACHT domain
      sd00033
      Location:652676
      LRR_RI; leucine-rich repeat [structural motif]
    7. XM_011523259.1XP_011521561.1  

      Conserved Domains (3) summary
      cd00116
      Location:545810
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      pfam05729
      Location:71241
      NACHT; NACHT domain
      sd00033
      Location:598622
      LRR_RI; leucine-rich repeat [structural motif]
    8. XM_011523257.1XP_011521559.1  

      See identical proteins and their annotated locations for XP_011521559.1

      Conserved Domains (3) summary
      cd00116
      Location:599864
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      pfam05729
      Location:125295
      NACHT; NACHT domain
      sd00033
      Location:652676
      LRR_RI; leucine-rich repeat [structural motif]

    RNA

    1. XR_933387.1 RNA Sequence

    2. XR_429725.2 RNA Sequence

    3. XR_429726.2 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

      Range
      52138579..52174514
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)