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Aliases for NOD2 Gene

Aliases for NOD2 Gene

  • Nucleotide-Binding Oligomerization Domain Containing 2 2 3
  • CARD15 3 4 6
  • IBD1 3 4 6
  • 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
  • PSORAS1 3 6
  • ACUG 3 6
  • CD 3 6
  • Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And CARD Domain Containing 2 3
  • Nucleotide-Binding Oligomerization Domain-Containing Protein 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
  • NLRC2 3
  • NOD2B 3
  • BLAU 3

External Ids for NOD2 Gene

Previous Symbols for NOD2 Gene

  • IBD1
  • CARD15

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 granulomatous mastitis and granulomatous dermatitis. Among its related pathways are Salmonella infection (KEGG) and Interferon Signaling. GO annotations related to this gene include protein kinase binding and peptidoglycan binding. An important paralog of this gene is NLRX1.

UniProtKB/Swiss-Prot for NOD2 Gene

  • Recognizes muramyl dipeptide (MDP) constituents of bacterial peptidoglycans and plays a key role in gastrointestinal immunity: upon stimulation, 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, leading to activate the transcription of hundreds of genes involved in immune response.

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

Genomic Location for NOD2 Gene

Start:
50,693,596 bp from pter
End:
50,733,079 bp from pter
Size:
39,484 bases
Orientation:
Plus strand

Genomic View for NOD2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NOD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NOD2 Gene

Regulatory Elements for NOD2 Gene

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

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:
    • Found in 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).

    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

Other Protein References for NOD2 Gene

No data available for DME Specific Peptides for NOD2 Gene

Domains for NOD2 Gene

Gene Families for NOD2 Gene

HGNC:
  • NLR :Nucleotide-binding domain and leucine rich repeat containing
IUPHAR :

Protein Domains for NOD2 Gene

UniProtKB/Swiss-Prot:

NOD2_HUMAN
Domain:
  • The ATG16L1-binding motif mediates interaction with ATG16L1.:
    • Q9HC29
  • Contains 2 CARD domains.:
    • Q9HC29
  • Contains 1 NACHT domain.:
    • Q9HC29
Similarity:
  • Contains 9 LRR (leucine-rich) repeats.:
    • Q9HC29
genes like me logo Genes that share domains with NOD2: view

Function for NOD2 Gene

Molecular function for NOD2 Gene

UniProtKB/Swiss-Prot Function: Recognizes muramyl dipeptide (MDP) constituents of bacterial peptidoglycans and plays a key role in gastrointestinal immunity: upon stimulation, 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, leading to activate the transcription of hundreds of genes involved in immune response.

Gene Ontology (GO) - Molecular Function for NOD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11472070
GO:0005524 ATP binding IEA --
GO:0019899 enzyme binding IPI 15753091
GO:0019901 protein kinase binding IPI 15075345
GO:0032500 muramyl dipeptide binding IDA 15998797
genes like me logo Genes that share ontologies with NOD2: view
genes like me logo Genes that share phenotypes with NOD2: view

Animal Models for NOD2 Gene

MGI Knock Outs for NOD2:

miRNA for NOD2 Gene

miRTarBase miRNAs that target NOD2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
cytosol 4
plasma membrane 4
extracellular 2
nucleus 2
vacuole 1

Gene Ontology (GO) - Cellular Components for NOD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 15967716
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IDA 21887730
GO:0005886 plasma membrane IDA 15998797
GO:0008180 colocalizes_with COP9 signalosome IDA 17337451
genes like me logo Genes that share ontologies with NOD2: view

Pathways 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:0002227 innate immune response in mucosa IEA --
GO:0002253 activation of immune response --
GO:0002367 cytokine production involved in immune response IMP 16260731
genes like me logo Genes that share ontologies with NOD2: view

Compounds for NOD2 Gene

(1) IUPHAR Ligand for NOD2 Gene

Ligand Type Action Affinity Pubmed IDs
muramyl dipeptide Agonist Agonist

(17) Novoseek inferred chemical compound relationships for NOD2 Gene

Compound -log(P) Hits PubMed IDs
muramyl dipeptide 86.4 24
peptidoglycan 80.7 59
fk 565 74.9 4
diaminopimelic acid 59.4 1
il 10 45 3

(1) PharmGKB related drug/compound annotations for NOD2 Gene

Drug/compound Annotation
tacrolimus CA
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 (13.2), Skin - Sun Exposed (Lower leg) (4.7), Esophagus - Mucosa (4.2), and Skin - Not Sun Exposed (Suprapubic) (4.1).

Integrated Proteomics: protein expression 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 expressions with NOD2: view

Orthologs for NOD2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NOD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NOD2 36
  • 99.23 (n)
  • 99.13 (a)
NOD2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NOD2 36
  • 83.55 (n)
  • 81.24 (a)
NOD2 37
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NOD2 36
  • 85.39 (n)
  • 83.42 (a)
NOD2 37
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nod2 36
  • 80.75 (n)
  • 79.27 (a)
Nod2 16
Nod2 37
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NOD2 37
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NOD2 37
  • 63 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nod2 36
  • 80.69 (n)
  • 80.04 (a)
zebrafish
(Danio rerio)
Actinopterygii nod2 36
  • 54.42 (n)
  • 50.36 (a)
nod2 37
  • 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 MAF
rs748855 -- 50,717,487(+) TTTAA(A/G)TTGCC intron-variant
rs749910 -- 50,724,938(+) CCTGT(A/G)ACTTC intron-variant
rs751271 -- 50,717,264(-) AGTAA(A/C)CCCAG intron-variant
rs1077861 -- 50,725,636(-) TCTTA(A/T)TCAGA intron-variant
rs1078327 - 50,711,322(+) TCATC(C/T)GCCTG reference, missense, nc-transcript-variant

Relevant External Links for NOD2 Gene

HapMap Linkage Disequilibrium report
NOD2
Human Gene Mutation Database (HGMD)
NOD2
Locus Specific Mutation Databases (LSDB)
NOD2

No data available for Structural Variations from Database of Genomic Variants (DGV) for NOD2 Gene

Disorders for NOD2 Gene

(4) OMIM Diseases for NOD2 Gene (605956)

UniProtKB/Swiss-Prot

NOD2_HUMAN
  • Blau syndrome (BS) [MIM:186580]: 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.

(5) University of Copenhagen DISEASES for NOD2 Gene

(50) Novoseek inferred disease relationships for NOD2 Gene

Disease -log(P) Hits PubMed IDs
blau syndrome 95.8 62
ileal diseases 91.7 18
inflammatory bowel diseases 87.8 56
colitis ulcerative 84.5 27
colonic diseases 67.6 1

Relevant External Links for NOD2

Genetic Association Database (GAD)
NOD2
Human Genome Epidemiology (HuGE) Navigator
NOD2
genes like me logo Genes that share disorders with NOD2: view

Publications for NOD2 Gene

  1. Eight novel CARD15 variants detected by DNA sequence analysis of the CARD15 gene in 111 patients with inflammatory bowel disease. (PMID: 16485124) Schnitzler F. … Lohse P. (Immunogenetics 2006) 3 4 23 49
  2. 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 49
  3. A novel mutation in the NOD2 gene associated with Blau syndrome: a Norwegian family with four affected members. (PMID: 19169908) Milman N. … Hansen T.V. (Scand. J. Rheumatol. 2009) 3 4 23
  4. OCTN and CARD15 gene polymorphism in Chinese patients with inflammatory bowel disease. (PMID: 18756601) Li M. … Hu P.J. (World J. Gastroenterol. 2008) 3 23 49
  5. NOD2/CARD15 polymorphism in patients with rectal cancer. (PMID: 18758419) Szeliga J. … Malenczyk M. (Med. Sci. Monit. 2008) 3 23 49

Products for NOD2 Gene

Sources for NOD2 Gene

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