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

Gene ID: 64127, updated on 15-Apr-2019

Summary

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 MIM:605956
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; YAOS; BLAUS; 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]
Expression
Broad expression in bone marrow (RPKM 3.3), appendix (RPKM 2.5) and 16 other tissues See more
Orthologs

Genomic context

See NOD2 in Genome Data Viewer
Location:
16q12.1
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (50693587..50733077)
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 NKD inhibitor of WNT signaling pathway 1 Neighboring gene uncharacterized LOC101927272 Neighboring gene sorting nexin 20 Neighboring gene uncharacterized LOC102724907 Neighboring gene microRNA 3181 Neighboring gene CYLD lysine 63 deubiquitinase Neighboring gene uncharacterized LOC105371251 Neighboring gene long intergenic non-protein coding RNA 2168

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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
Yao syndrome
MedGen: C4310620 OMIM: 617321 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

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vpr vpr HIV-1 Vpr upregulates the gene expression of NOD2 in human monocyte-derived dendritic cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • 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...
  • Deubiquitination, organism-specific biosystem (from REACTOME)
    Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
  • 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)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • 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...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • 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-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 Oligomerization Domain (NOD) pathway, organism-specific biosystem (from WikiPathways)
    Nucleotide-binding Oligomerization Domain (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...
  • 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...
  • Ovarian tumor domain proteases, organism-specific biosystem (from REACTOME)
    Ovarian tumor domain proteases, organism-specific biosystemHumans have 16 Overian tumour domain (OTU) family DUBs that can be evolutionally divided into three classes, the OTUs, the Otubains (OTUBs), and the A20-like OTUs (Komander et al. 2009). OTU family ...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • 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)
    Toll Like Receptor TLR6:TLR2 Cascade, organism-specific biosystemTLR2 and TLR4 recognize different bacterial cell wall components. While TLR4 is trained onto Gram-negative lipopolysaccharide components, TLR2 - in combination with TLR6 - plays a major role in recog...
  • Toll-Like Receptors Cascades, organism-specific biosystem (from REACTOME)
    Toll-Like Receptors Cascades, organism-specific biosystemIn human, ten members of the Toll-like receptor (TLR) family (TLR1-TLR10) have been identified (TLR11 has been found in mouse, but not in human). All TLRs have a similar Toll/IL-1 receptor (TIR) doma...
  • Tuberculosis, organism-specific biosystem (from KEGG)
    Tuberculosis, organism-specific biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
  • Tuberculosis, conserved biosystem (from KEGG)
    Tuberculosis, conserved biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
  • activated TAK1 mediates p38 MAPK activation, organism-specific biosystem (from REACTOME)
    activated TAK1 mediates p38 MAPK activation, organism-specific biosystemp38 mitogen-activated protein kinase (MAPK) belongs to a highly conserved family of serine/threonine protein kinases. The p38 MAPK-dependent signaling cascade is activated by pro-inflammatory or stre...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
protein-containing complex binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
JNK cascade TAS
Traceable Author Statement
more info
 
activation of MAPK activity TAS
Traceable Author Statement
more info
 
cellular response to lipopolysaccharide IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 organic cyclic compound IEA
Inferred from Electronic Annotation
more info
 
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 bacterium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
innate immune response IDA
Inferred from Direct Assay
more info
PubMed 
innate immune response NAS
Non-traceable Author Statement
more info
PubMed 
interleukin-1-mediated signaling pathway TAS
Traceable Author Statement
more info
 
intracellular signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
maintenance of gastrointestinal epithelium IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of macrophage apoptotic process ISS
Inferred from Sequence or Structural Similarity
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 MAP kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
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 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 dendritic cell cytokine production IEA
Inferred from Electronic Annotation
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 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-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 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 protein K63-linked ubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of stress-activated MAPK cascade IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II 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 complex oligomerization TAS
Traceable Author Statement
more info
PubMed 
regulation of inflammatory response IC
Inferred by Curator
more info
PubMed 
response to muramyl dipeptide IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to muramyl dipeptide IDA
Inferred from Direct Assay
more info
PubMed 
response to muramyl dipeptide IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to nutrient IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with cytoplasm IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
vesicle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    Consensus CDS
    CCDS86525.1
    UniProtKB/Swiss-Prot
    Q9HC29
    Conserved Domains (6) 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 ...
    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]
    sd00034
    Location:737764
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam05729
    Location:266436
    NACHT; NACHT domain
    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
    ENSP00000300589.2, ENST00000300589.6
    Conserved Domains (7) 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 ...
    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]
    sd00034
    Location:764791
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam05729
    Location:293463
    NACHT; NACHT domain
    cl14633
    Location:34119
    DD; Death Domain Superfamily of protein-protein interaction domains

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    50693587..50733077
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017023536.1XP_016879025.1  nucleotide-binding oligomerization domain-containing protein 2 isoform X4

    Conserved Domains (4) 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 ...
    sd00033
    Location:598622
    LRR_RI; leucine-rich repeat [structural motif]
    sd00034
    Location:542569
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam05729
    Location:71241
    NACHT; NACHT domain
  2. XM_017023537.1XP_016879026.1  nucleotide-binding oligomerization domain-containing protein 2 isoform X4

    Conserved Domains (4) 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 ...
    sd00033
    Location:598622
    LRR_RI; leucine-rich repeat [structural motif]
    sd00034
    Location:542569
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam05729
    Location:71241
    NACHT; NACHT domain
  3. XM_005256084.4XP_005256141.1  nucleotide-binding oligomerization domain-containing protein 2 isoform X1

    See identical proteins and their annotated locations for XP_005256141.1

    UniProtKB/Swiss-Prot
    Q9HC29
    Related
    ENSP00000495993.1, ENST00000647318.1
    Conserved Domains (6) 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 ...
    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]
    sd00034
    Location:737764
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam05729
    Location:266436
    NACHT; NACHT domain
    cl14633
    Location:792
    DD; Death Domain Superfamily of protein-protein interaction domains
  4. XM_006721242.4XP_006721305.1  nucleotide-binding oligomerization domain-containing protein 2 isoform X2

    Conserved Domains (7) 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 ...
    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]
    sd00034
    Location:737752
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam05729
    Location:266436
    NACHT; NACHT domain
    cl14633
    Location:792
    DD; Death Domain Superfamily of protein-protein interaction domains
  5. XM_011523260.3XP_011521562.1  nucleotide-binding oligomerization domain-containing protein 2 isoform X6

    See identical proteins and their annotated locations for XP_011521562.1

    UniProtKB/TrEMBL
    A0A286YF65
    Related
    ENSP00000496533.1, ENST00000646677.1
    Conserved Domains (3) summary
    cd08787
    Location:792
    CARD_NOD2_1_CARD15; Caspase activation and recruitment domain of NOD2, repeat 1
    cd08788
    Location:107187
    CARD_NOD2_2_CARD15; Caspase activation and recruitment domain of NOD2, repeat 2
    pfam05729
    Location:266436
    NACHT; NACHT domain
  6. XM_006721243.4XP_006721306.1  nucleotide-binding oligomerization domain-containing protein 2 isoform X5

    See identical proteins and their annotated locations for XP_006721306.1

    UniProtKB/TrEMBL
    A0A286YF65
    Related
    ENSP00000493088.1, ENST00000641284.1
    Conserved Domains (3) summary
    cd08787
    Location:792
    CARD_NOD2_1_CARD15; Caspase activation and recruitment domain of NOD2, repeat 1
    cd08788
    Location:107187
    CARD_NOD2_2_CARD15; Caspase activation and recruitment domain of NOD2, repeat 2
    pfam05729
    Location:266436
    NACHT; NACHT domain
  7. XM_011523261.2XP_011521563.1  nucleotide-binding oligomerization domain-containing protein 2 isoform X7

    See identical proteins and their annotated locations for XP_011521563.1

    UniProtKB/TrEMBL
    A0A286YF65
    Conserved Domains (3) summary
    cd08787
    Location:792
    CARD_NOD2_1_CARD15; Caspase activation and recruitment domain of NOD2, repeat 1
    cd08788
    Location:107187
    CARD_NOD2_2_CARD15; Caspase activation and recruitment domain of NOD2, repeat 2
    pfam05729
    Location:266436
    NACHT; NACHT domain
  8. XM_011523259.2XP_011521561.1  nucleotide-binding oligomerization domain-containing protein 2 isoform X4

    Conserved Domains (4) 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 ...
    sd00033
    Location:598622
    LRR_RI; leucine-rich repeat [structural motif]
    sd00034
    Location:542569
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam05729
    Location:71241
    NACHT; NACHT domain
  9. XM_017023538.1XP_016879027.1  nucleotide-binding oligomerization domain-containing protein 2 isoform X4

    Conserved Domains (4) 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 ...
    sd00033
    Location:598622
    LRR_RI; leucine-rich repeat [structural motif]
    sd00034
    Location:542569
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam05729
    Location:71241
    NACHT; NACHT domain
  10. XM_017023535.1XP_016879024.1  nucleotide-binding oligomerization domain-containing protein 2 isoform X3

RNA

  1. XR_933387.2 RNA Sequence

  2. XR_429725.3 RNA Sequence

  3. XR_429726.3 RNA Sequence

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