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Aliases for NOD2 Gene

Aliases for NOD2 Gene

  • Nucleotide Binding Oligomerization Domain Containing 2 2 3 5
  • Caspase Recruitment Domain-Containing Protein 15 3 4
  • Caspase Recruitment Domain Family, Member 15 2 3
  • Inflammatory Bowel Disease Protein 1 3 4
  • NOD-Like Receptor C2 2 3
  • CARD15 3 4
  • IBD1 3 4
  • Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And CARD Domain Containing 2 3
  • Nucleotide-Binding Oligomerization Domain Containing 2 3
  • Leucine Rich Repeat And CARD Domain Containing 2 2
  • Nucleotide-Binding Oligomerization Domain 2 3
  • Nucleotide-Binding Oligomerization Domain 2
  • Caspase Recruitment Domain Protein 15 3
  • NLR Family, CARD Domain Containing 2 3
  • CARD Domain Containing 2 2
  • NLR Family 2
  • CLR16.3 3
  • PSORAS1 3
  • NLRC2 3
  • NOD2B 3
  • ACUG 3
  • BLAU 3
  • CD 3

External Ids for NOD2 Gene

Previous HGNC Symbols for NOD2 Gene

  • IBD1
  • CARD15

Previous GeneCards Identifiers for NOD2 Gene

  • GC16P049289
  • GC16P050731
  • GC16P036618
  • GC16P050729

Summaries for NOD2 Gene

Entrez Gene Summary for NOD2 Gene

  • 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]

GeneCards Summary for NOD2 Gene

NOD2 (Nucleotide Binding Oligomerization Domain Containing 2) is a Protein Coding gene. Diseases associated with NOD2 include Blau Syndrome and Sarcoidosis, Early-Onset. Among its related pathways are TNF signaling pathway and MyD88 cascade initiated on plasma membrane. GO annotations related to this gene include protein kinase binding and peptidoglycan binding. An important paralog of this gene is CIITA.

UniProtKB/Swiss-Prot for NOD2 Gene

  • Involved in gastrointestinal immunity. Upon stimulation by muramyl dipeptide (MDP), a fragment of bacterial peptidoglycan, binds the proximal adapter receptor-interacting RIPK2, which recruits ubiquitin ligases as XIAP, BIRC2, BIRC3 and the LUBAC complex, triggering activation of MAP kinases and activation of NF-kappa-B signaling. This in turn leads to the transcriptional activation of hundreds of genes involved in immune response. Required for MDP-induced NLRP1-dependent CASP1 activation and IL1B release in macrophages (PubMed:18511561).

Gene Wiki entry for NOD2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NOD2 Gene

Genomics for NOD2 Gene

Regulatory Elements for NOD2 Gene

Enhancers for NOD2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NOD2 on UCSC Golden Path with GeneCards custom track

Promoters for NOD2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NOD2 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the NOD2 gene promoter:

Genomic Location for NOD2 Gene

Chromosome:
16
Start:
50,693,581 bp from pter
End:
50,733,081 bp from pter
Size:
39,501 bases
Orientation:
Plus strand

Genomic View for NOD2 Gene

Genes around NOD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NOD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NOD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NOD2 Gene

Proteins for NOD2 Gene

  • Protein details for NOD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HC29-NOD2_HUMAN
    Recommended name:
    Nucleotide-binding oligomerization domain-containing protein 2
    Protein Accession:
    Q9HC29
    Secondary Accessions:
    • E2JEQ6
    • Q96RH5
    • Q96RH6
    • Q96RH8

    Protein attributes for NOD2 Gene

    Size:
    1040 amino acids
    Molecular mass:
    115283 Da
    Quaternary structure:
    • Component a signaling complex consisting of ARHGEF2, NOD2 and RIPK2 (PubMed:21887730). Interacts (via CARD domain) with RIPK2 (via CARD domain) (PubMed:19592251, PubMed:21887730). Interacts with ATG16L1 (PubMed:23376921). Interacts (via NACHT domain) with CARD9 (PubMed:24960071). Interacts with ANKRD17 (via N-terminus) (PubMed:23711367). Interacts with HSPA1A; the interaction enhances NOD2 stability (PubMed:24790089). Interacts (via both CARD domains) with HSP90; the interaction enhances NOD2 stability (PubMed:23019338). Interacts (via CARD domain) with SOCS3; the interaction promotes NOD2 degradation (PubMed:23019338). Interacts (via CARD domain) with ERBBI2P; the interaction inhibits activation of NOD2 (PubMed:16203728). Interacts (via CARD domain) with CASP1; this interaction leads to IL1B processing. Also interacts with CASP4. Interacts with NLRP1; this interaction is enhanced in the presence of muramyl dipeptide (MDP) and leads to increased IL1B release (PubMed:18511561).

    Alternative splice isoforms for NOD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NOD2 Gene

Proteomics data for NOD2 Gene at MOPED

Post-translational modifications for NOD2 Gene

  • Polyubiquitinated following MDP stimulation, leading to proteasome-mediated degradation (PubMed:23019338).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for NOD2 Gene

Domains & Families for NOD2 Gene

Gene Families for NOD2 Gene

Protein Domains for NOD2 Gene

Suggested Antigen Peptide Sequences for NOD2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9HC29

UniProtKB/Swiss-Prot:

NOD2_HUMAN :
  • The ATG16L1-binding motif mediates interaction with ATG16L1.
  • Contains 9 LRR (leucine-rich) repeats.
Domain:
  • The ATG16L1-binding motif mediates interaction with ATG16L1.
  • Intramolecular interactions between the N-terminal moiety and the leucine-rich repeats (LRR) may be important for autoinhibition in the absence of activating signal. In the absence of LRRs, the protein becomes a constitutive activator of CASP1 cleavage and proIL1B processing.
  • Contains 2 CARD domains.
  • Contains 1 NACHT domain.
Similarity:
  • Contains 9 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with NOD2: view

Function for NOD2 Gene

Molecular function for NOD2 Gene

UniProtKB/Swiss-Prot Function:
Involved in gastrointestinal immunity. Upon stimulation by muramyl dipeptide (MDP), a fragment of bacterial peptidoglycan, binds the proximal adapter receptor-interacting RIPK2, which recruits ubiquitin ligases as XIAP, BIRC2, BIRC3 and the LUBAC complex, triggering activation of MAP kinases and activation of NF-kappa-B signaling. This in turn leads to the transcriptional activation of hundreds of genes involved in immune response. Required for MDP-induced NLRP1-dependent CASP1 activation and IL1B release in macrophages (PubMed:18511561).

Gene Ontology (GO) - Molecular Function for NOD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IDA 24790089
GO:0050700 CARD domain binding IPI 11087742
genes like me logo Genes that share ontologies with NOD2: view
genes like me logo Genes that share phenotypes with NOD2: view

Human Phenotype Ontology for NOD2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NOD2 Gene

MGI Knock Outs for NOD2:

Animal Model Products

miRNA for NOD2 Gene

miRTarBase miRNAs that target NOD2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NOD2 Gene

Localization for NOD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NOD2 Gene

Cytoplasm. Membrane. Basolateral cell membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NOD2 Gene COMPARTMENTS Subcellular localization image for NOD2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
plasma membrane 5
nucleus 3
extracellular 2
endosome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for NOD2 Gene

Pathways & Interactions for NOD2 Gene

SuperPathways for NOD2 Gene

genes like me logo Genes that share pathways with NOD2: view

Gene Ontology (GO) - Biological Process for NOD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity TAS --
GO:0002224 toll-like receptor signaling pathway TAS --
GO:0002367 cytokine production involved in immune response IMP 16260731
GO:0002374 cytokine secretion involved in immune response IMP 20441518
GO:0002755 MyD88-dependent toll-like receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with NOD2: view

No data available for SIGNOR curated interactions for NOD2 Gene

Drugs & Compounds for NOD2 Gene

(12) Drugs for NOD2 Gene - From: PharmGKB, DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tacrolimus Approved, Investigational Pharma 1045
muramyl dipeptide Pharma Agonist 0

(6) Additional Compounds for NOD2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NOD2: view

Transcripts for NOD2 Gene

Unigene Clusters for NOD2 Gene

Nucleotide-binding oligomerization domain containing 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NOD2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13
SP1: - - -
SP2: -
SP3: - - -
SP4: - - -
SP5: - - - -
SP6: - - -
SP7:
SP8: - - - - -
SP9: - - - -
SP10: - - -

Relevant External Links for NOD2 Gene

GeneLoc Exon Structure for
NOD2
ECgene alternative splicing isoforms for
NOD2

Expression for NOD2 Gene

mRNA expression in normal human tissues for NOD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NOD2 Gene

This gene is overexpressed in Whole Blood (x13.2), Skin - Sun Exposed (Lower leg) (x4.7), Esophagus - Mucosa (x4.2), and Skin - Not Sun Exposed (Suprapubic) (x4.1).

Protein differential expression in normal tissues from HIPED for NOD2 Gene

This gene is overexpressed in Adipocyte (65.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NOD2 Gene



SOURCE GeneReport for Unigene cluster for NOD2 Gene Hs.592072

mRNA Expression by UniProt/SwissProt for NOD2 Gene

Q9HC29-NOD2_HUMAN
Tissue specificity: Monocytes-specific.
genes like me logo Genes that share expression patterns with NOD2: view

Protein tissue co-expression partners for NOD2 Gene

- Elite partner

Primer Products

Orthologs for NOD2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NOD2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NOD2 35
  • 83.55 (n)
  • 81.24 (a)
NOD2 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NOD2 35
  • 85.39 (n)
  • 83.42 (a)
NOD2 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nod2 35
  • 80.75 (n)
  • 79.27 (a)
Nod2 16
Nod2 36
  • 79 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NOD2 35
  • 99.23 (n)
  • 99.13 (a)
NOD2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nod2 35
  • 80.69 (n)
  • 80.04 (a)
oppossum
(Monodelphis domestica)
Mammalia NOD2 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NOD2 36
  • 63 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii nod2 35
  • 54.42 (n)
  • 50.36 (a)
nod2 36
  • 48 (a)
OneToOne
Species with no ortholog for NOD2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NOD2 Gene

ENSEMBL:
Gene Tree for NOD2 (if available)
TreeFam:
Gene Tree for NOD2 (if available)

Paralogs for NOD2 Gene

Paralogs for NOD2 Gene

genes like me logo Genes that share paralogs with NOD2: view

Variants for NOD2 Gene

Sequence variations from dbSNP and Humsavar for NOD2 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs34684955 - 50,699,832(+) GGCCA(A/G)CCATT intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
VAR_012666 -
rs61755182 - 50,707,880(+) TGCCA(C/T)GGTGA intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime
VAR_012668 -
rs104895423 - 50,710,654(+) CTGCC(G/T)GGAGG nc-transcript-variant, reference, missense

Variation tolerance for NOD2 Gene

Residual Variation Intolerance Score: 97.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.63; 65.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NOD2 Gene

Human Gene Mutation Database (HGMD)
NOD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for NOD2 Gene

Disorders for NOD2 Gene

MalaCards: The human disease database

(45) MalaCards diseases for NOD2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
blau syndrome
  • sarcoidosis, early-onset
sarcoidosis, early-onset
  • early onset sarcoidosis
inflammatory bowel disease 1
  • crohn disease-associated growth failure
psoriatic arthritis
  • arthritis psoriatica
crohn's disease
  • ileitis
- elite association - COSMIC cancer census association via MalaCards
Search NOD2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NOD2_HUMAN
  • Blau syndrome (BLAUS) [MIM:186580]: A rare autosomal dominant disorder characterized by early-onset granulomatous arthritis, uveitis and skin rash. {ECO:0000269 PubMed:11528384, ECO:0000269 PubMed:15812565, ECO:0000269 PubMed:19116920, ECO:0000269 PubMed:19169908, ECO:0000269 PubMed:19479837, ECO:0000269 PubMed:20199415, ECO:0000269 PubMed:24960071, ECO:0000269 PubMed:25093298, ECO:0000269 PubMed:25692065, ECO:0000269 PubMed:25724124}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Inflammatory bowel disease 1 (IBD1) [MIM:266600]: A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. {ECO:0000269 PubMed:11385576}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Sarcoidosis early-onset (EOS) [MIM:609464]: A form of sarcoidosis manifesting in children younger than 4 years of age. Sarcoidosis is an idiopathic, systemic, inflammatory disease characterized by the formation of immune granulomas in involved organs. Granulomas predominantly invade the lungs and the lymphatic system, but also skin, liver, spleen, eyes and other organs may be involved. Early-onset sarcoidosis is quite rare and has a distinct triad of skin, joint and eye disorders, without apparent pulmonary involvement. Compared with an asymptomatic and sometimes naturally disappearing course of the disease in older children, early-onset sarcoidosis is progressive and in many cases causes severe complications, such as blindness, joint destruction and visceral involvement. {ECO:0000269 PubMed:15459013, ECO:0000269 PubMed:19116920, ECO:0000269 PubMed:19359344, ECO:0000269 PubMed:25093298}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NOD2

Genetic Association Database (GAD)
NOD2
Human Genome Epidemiology (HuGE) Navigator
NOD2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NOD2
genes like me logo Genes that share disorders with NOD2: view

No data available for Genatlas for NOD2 Gene

Publications for NOD2 Gene

  1. Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis. (PMID: 19116920) Okafuji I. … Nakahata T. (Arthritis Rheum. 2009) 3 4 23 48 67
  2. Nod1 and Nod2 direct autophagy by recruiting ATG16L1 to the plasma membrane at the site of bacterial entry. (PMID: 19898471) Travassos L.H. … Philpott D.J. (Nat. Immunol. 2010) 3 23
  3. NOD2 stimulation induces autophagy in dendritic cells influencing bacterial handling and antigen presentation. (PMID: 19966812) Cooney R. … Simmons A. (Nat. Med. 2010) 3 23
  4. Nucleotide-binding oligomerization domain containing 2 (NOD2) variants are genetic risk factors for death and spontaneous bacterial peritonitis in liver cirrhosis. (PMID: 20087966) Appenrodt B. … Lammert F. (Hepatology 2010) 3 23
  5. Nod1 and nod2 are expressed in human and murine renal tubular epithelial cells and participate in renal ischemia reperfusion injury. (PMID: 20124104) Shigeoka A.A. … McKay D.B. (J. Immunol. 2010) 3 23

Products for NOD2 Gene

Sources for NOD2 Gene

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