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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NOD2 Gene

protein-coding   GIFtS: 62
GCID: GC16P050729

Nucleotide-Binding Oligomerization Domain Containing 2

(Previous names: caspase recruitment domain family, member 15)
(Previous symbols: IBD1, CARD15)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Nucleotide-Binding Oligomerization Domain Containing 21 2     NLR Family1
CARD151 2 3 5     Nucleotide-Binding Oligomerization Domain1
IBD11 2 3 5     BLAU2
Caspase Recruitment Domain Family, Member 151 2     CLR16.32
NOD-Like Receptor C21 2     NLRC22
Caspase Recruitment Domain-Containing Protein 152 3     NOD2B2
Inflammatory Bowel Disease Protein 12 3     Caspase Recruitment Domain Protein 152
ACUG2 5     NLR Family, CARD Domain Containing 22
CD2 5     Nucleotide-Binding Oligomerization Domain 22
PSORAS12 5     Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And CARD
Domain Containing 22
CARD Domain Containing 21     Nucleotide-Binding Oligomerization Domain-Containing Protein 22
Leucine Rich Repeat And CARD Domain Containing 21     

External Ids:    HGNC: 53311   Entrez Gene: 641272   Ensembl: ENSG000001672077   OMIM: 6059565   UniProtKB: Q9HC293   

Export aliases for NOD2 gene to outside databases

Previous GC identifers: GC16P049289 GC16P050731 GC16P036618


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. (provided by RefSeq, Jul 2008)

GeneCards Summary for NOD2 Gene: 
NOD2 (nucleotide-binding oligomerization domain containing 2) is a protein-coding gene. Diseases associated with NOD2 include crohn's disease, and inflammatory bowel disease, and among its related super-pathways are NOD1/2 Signaling Pathway and MAP kinase activation in TLR cascade. GO annotations related to this gene include protein kinase binding and peptidoglycan binding. An important paralog of this gene is NLRC5.

UniProtKB/Swiss-Prot: NOD2_HUMAN, Q9HC29
Function: Induces NF-kappa-B via RICK (CARDIAK, RIP2) and IKK-gamma. Confers responsiveness to intracellular
bacterial lipopolysaccharides (LPS)

Gene Wiki entry for NOD2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010498.15  NC_018927.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NOD2 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NOD2 promoter sequence
   Search SABiosciences Chromatin IP Primers for NOD2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NOD2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q21   Ensembl cytogenetic band:  16q12.1   HGNC cytogenetic band: 16q12

NOD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NOD2 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P050729:  view genomic region     (about GC identifiers)

Start:
50,727,514 bp from pter      End:
50,766,988 bp from pter
Size:
39,475 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NOD2_HUMAN, Q9HC29 (See protein sequence)
Recommended Name: Nucleotide-binding oligomerization domain-containing protein 2  
Size: 1040 amino acids; 115283 Da
Subunit: Binds to RIPK2/RICK by CARD-CARD interaction. Interacts with ATG16L1
Subcellular location: Cytoplasm
Secondary accessions: E2JEQ6 Q96RH5 Q96RH6 Q96RH8
Alternative initiation: 3 isoforms:  Q9HC29-1   Q9HC29-2   Q9HC29-3   (Can activate NF-kappa-B)

Explore the universe of human proteins at neXtProt for NOD2: NX_Q9HC29

Explore proteomics data for NOD2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9HC29

  • NOD2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NOD2 Protein Expression
    REFSEQ proteins: NP_071445.1  
    ENSEMBL proteins: 
     ENSP00000431681   ENSP00000300589   ENSP00000435149   ENSP00000463145   ENSP00000462443  
     ENSP00000464065   ENSP00000463423   ENSP00000437246  
    Reactome Protein details: Q9HC29
    Human Recombinant Protein Products for NOD2: 
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    Cloud-Clone Corp. Proteins for NOD2 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737cytoplasm TAS15967716
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IDA15998797
    GO:0008180colocalizes with COP9 signalosome IDA17337451

    NOD2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    NLR: Nucleotide-binding domain and leucine rich repeat containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: NLRC2 
    NOD-like receptor family

    5 InterPro protein domains:
     IPR001611 Leu-rich_rpt
     IPR011029 DEATH-like_dom
     IPR007111 NACHT_NTPase
     IPR027417 P-loop_NTPase
     IPR001315 CARD

    Graphical View of Domain Structure for InterPro Entry Q9HC29

    ProtoNet protein and cluster: Q9HC29

    1 Blocks protein domain: IPB001315 CARD interaction domain

    UniProtKB/Swiss-Prot: NOD2_HUMAN, Q9HC29
    Domain: The ATG16L1-binding motif mediates interaction with ATG16L1 (PubMed:23376921)
    Similarity: Contains 2 CARD domains
    Similarity: Contains 9 LRR (leucine-rich) repeats
    Similarity: Contains 1 NACHT domain


    NOD2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NOD2_HUMAN, Q9HC29
    Function: Induces NF-kappa-B via RICK (CARDIAK, RIP2) and IKK-gamma. Confers responsiveness to intracellular
    bacterial lipopolysaccharides (LPS)

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11472070
    GO:0005524ATP binding IEA--
    GO:0019899enzyme binding IPI15753091
    GO:0019901protein kinase binding IPI15075345
    GO:0032500muramyl dipeptide binding IDA15998797
         
    NOD2 for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Nod2):
     cellular  digestive/alimentary  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  mortality/aging  skeleton 

    NOD2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for NOD2: Nod2tm1Vmd Nod2tm1Flv Nod2tm1Jhgt Nod2tm1Mka Nod2tm1Pmu

       inGenious Targeting Laboratory - Custom generated mouse model solutions for NOD2 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NOD2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NOD2 

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    SwitchGear 3'UTR luciferase reporter plasmidNOD2 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NOD2 About   (see all 13)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
    Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways0.69
    NOD-like receptor signaling pathway0.37
    NOD1/2 Signaling Pathway0.69
    NOD pathway0.33
    2TRAF6 Mediated Induction of proinflammatory cytokines
    Toll Like Receptor 5 (TLR5) Cascade0.93
    MyD88-independent cascade 0.87
    MyD88 cascade initiated on plasma membrane0.93
    Toll Like Receptor 3 (TLR3) Cascade0.87
    Toll Like Receptor 10 (TLR10) Cascade0.93
    Toll Like Receptor 4 (TLR4) Cascade0.87
    TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation0.93
    Toll-Like Receptors Cascades0.87
    3JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1
    JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK10.58
    TAK1 activates NFkB by phosphorylation and activation of IKKs complex0.56
    activated TAK1 mediates p38 MAPK activation0.58
    4Immune System
    Immune System0.56
    Innate Immune System0.50
    5Interferon Signaling
    Cytokine Signaling in Immune system0.61

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for NOD2
        NOD-like Receptor Signaling Pathways


    2 BioSystems Pathways for NOD2
        NOD pathway
    Canonical NF-kappaB pathway

    5/29        Reactome Pathways for NOD2 (see all 29)
        Toll Like Receptor 2 (TLR2) Cascade
    Toll Like Receptor TLR6:TLR2 Cascade
    Toll-Like Receptors Cascades
    TAK1 activates NFkB by phosphorylation and activation of IKKs complex
    Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways


    5         Kegg Pathways  (Kegg details for NOD2):
        NOD-like receptor signaling pathway
    TNF signaling pathway
    Shigellosis
    Tuberculosis
    Inflammatory bowel disease (IBD)


    NOD2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NOD2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/44 Interacting proteins for NOD2 (Q9HC292, 3 ENSP000003005894) via UniProtKB, MINT, STRING, and/or I2D (see all 44)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RIPK2O433532, 3, ENSP000002207514MINT-13806 I2D: score=7 STRING: ENSP00000220751
    ERBB2IPQ96RT13, ENSP000003703304I2D: score=2 STRING: ENSP00000370330
    CASP4P496623, ENSP000003885664I2D: score=1 STRING: ENSP00000388566
    CASP1P294663, ENSP000004100764I2D: score=2 STRING: ENSP00000410076
    XIAPP981703, ENSP000003478584I2D: score=1 STRING: ENSP00000347858
    About this table

    Gene Ontology (GO): 5/86 biological process terms (GO ID links to tree view) (see all 86):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000187activation of MAPK activity TAS--
    GO:0002224toll-like receptor signaling pathway TAS--
    GO:0002227innate immune response in mucosa IEA--
    GO:0002253activation of immune response ----
    GO:0002282microglial cell activation involved in immune response IEA--

    NOD2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NOD2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for NOD2

    1 IUPHAR Ligand for NOD2 (NLRC2)    About this table 
    LigandTypeActionAffinityPubmed IDs
    muramyl dipeptide
    AgonistAgonist--

    10/17 Novoseek inferred chemical compound relationships for NOD2 gene (see all 17)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    muramyl dipeptide 86.4 38 18647246 (6), 18243161 (2), 18096043 (2), 17100619 (2) (see all 13)
    peptidoglycan 80.7 82 15330254 (3), 12514169 (3), 18385071 (3), 12626759 (2) (see all 47)
    fk 565 74.9 4 16637007 (3), 18231574 (1)
    diaminopimelic acid 59.4 1 18809654 (1)
    il 10 45 2 16389181 (1), 19349988 (1), 19381138 (1)
    infliximab 36.4 5 12360101 (3), 17207093 (1)
    lactulose 21.1 1 16000642 (1)
    mannose 11.7 1 17100626 (1)
    nitric oxide 5.52 2 20106130 (1), 16503465 (1)
    endotoxin 1.89 3 15016407 (2), 18382655 (1)

    Search CenterWatch for drugs/clinical trials and news about NOD2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NOD2 gene: 
    NM_022162.1  

    Unigene Cluster for NOD2:

    Nucleotide-binding oligomerization domain containing 2
    Hs.592072  [show with all ESTs]
    Unigene Representative Sequence: AF178930
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000526417 ENST00000531674(uc010cbj.1) ENST00000300589(uc021tia.1 uc010cbk.1 uc002egl.1 uc010cbl.1 uc010cbm.1 uc010cbn.1 uc010cbo.1 uc010cbq.1 uc002egm.1 uc010vgq.1)
    ENST00000527070 ENST00000532206 ENST00000534067 ENST00000529633(uc010cbr.1)
    ENST00000524712(uc010cbp.1) ENST00000527052 ENST00000534057
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AF178930.1 AK298099.1 AY187233.1 AY187234.1 AY187235.1 AY187236.1 AY187237.1 AY187238.1 
    AY187239.1 AY187240.1 AY187241.1 AY187242.1 AY187243.1 AY187244.1 AY187245.1 AY187246.1 
    AY423901.1 DQ868973.1 HQ204571.1 

    4 DOTS entries:

    DT.428502  DT.97820421  DT.101976045  DT.101983771 

    24/26 AceView cDNA sequences (see all 26):

    AY187235 AY187234 AY187237 AI681116 AY187245 AF178930 AY187236 BE327441 
    BF475303 AY187241 AY187244 AY187239 BX380580 NM_022162 AY187233 AY187242 
    AY187240 AY187238 AY187246 AW517524 AA775466 AA910520 AL702982 AY187243 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for NOD2 (see all 10)    About this scheme

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


    ECgene alternative splicing isoforms for NOD2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NOD2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCGTGAACT
    NOD2 Expression
    About this image


    See NOD2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NOD2

    SOURCE GeneReport for Unigene cluster: Hs.592072

    UniProtKB/Swiss-Prot: NOD2_HUMAN, Q9HC29
    Tissue specificity: Monocytes-specific

        SABiosciences Expression via Pathway-Focused PCR Arrays including NOD2: 
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              Apoptosis 384HT in human mouse rat
              Antibacterial Response in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for NOD2 gene from 2/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nod21 , 5 nucleotide-binding oligomerization domain containing more1, 5 80.75(n)1
    79.27(a)1
      8 (43.51 cM)5
    2576321  NM_145857.21  NP_665856.21 
     886473155 
    zebrafish
    (Danio rerio)
    Actinopterygii nod21 nucleotide-binding oligomerization domain containing more 54.05(n)
    49.79(a)
      777696  XM_692832.4  XP_697924.3 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NOD2 gene
    NLRC52  NOD12  CIITA2  
    3 SIMAP similar genes for NOD2 using alignment to 17 protein entries:     NOD2_HUMAN (see all proteins):
    CARD15    NOD2/CARD15    NOD1

    NOD2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1107 SNPs in NOD2 are shown (see all 1107)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0238244
    Sarcoidosis early-onset (EOS)4--see VAR_0238242 H L mis40--------
    VAR_0238224
    Sarcoidosis early-onset (EOS)4--see VAR_0238222 D E mis40--------
    VAR_0238234
    Blau syndrome (BS)4--see VAR_0238232 E K mis40--------
    VAR_0126854
    Blau syndrome (BS)4--see VAR_0126852 L F mis40--------
    VAR_0652284
    Blau syndrome (BS)4--see VAR_0652282 T N mis40--------
    VAR_0126864
    Sarcoidosis early-onset (EOS)4--see VAR_0126862 A T mis40--------
    VAR_0126764
    Blau syndrome (BS)4--see VAR_0126762 R Q mis40--------
    VAR_0126774
    Blau syndrome (BS)4--see VAR_0126772 R W mis40--------
    rs1048954621,2
    Cpathogenic151757165(+) GCTGCC/TGGCAG 2 R W mis10--------
    rs1048954611,2
    Cpathogenic151757166(+) CTGCCA/GGCAGC 2 Q R mis10--------

    HapMap Linkage Disequilibrium report for NOD2 (50727514 - 50766988 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for NOD2: --

    Human Gene Mutation Database (HGMD): NOD2

    Locus Specific Mutation Databases (LSDB): NOD2
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for NOD2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605956   
    OMIM disorders: 266600  186580  607507  609464  
    UniProtKB/Swiss-Prot: NOD2_HUMAN, Q9HC29
  • Blau syndrome (BS) [MIM:186580]: Rare autosomal dominant disorder characterized by early-onset
    granulomatous arthritis, uveitis and skin rash. 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. 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/109 diseases for NOD2 (see all 109):    About MalaCards
    crohn's disease    inflammatory bowel disease    blau syndrome    pouchitis
    granulomatous mastitis    granulomatous dermatitis    inflammatory bowel disease 1    colonic disease
    sapho syndrome    psoriatic arthritis    guttate psoriasis    spondylitis
    psoriatic juvenile idiopathic arthritis    pyoderma gangrenosum    collagenous colitis    pyoderma
    preterm premature rupture of the membranes    ulcerative colitis    sarcoidosis    hidradenitis suppurativa

    5 diseases from the University of Copenhagen DISEASES database for NOD2:
    Crohn's disease     Blau syndrome     Ulcerative colitis     Uveitis
    Sarcoidosis

    NOD2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/50 Novoseek inferred disease relationships for NOD2 gene (see all 50)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    blau syndrome 95.8 90 12428248 (6), 20298285 (5), 17207093 (4), 19116920 (4) (see all 38)
    ileal diseases 91.7 21 14555911 (4), 16167972 (2), 14570728 (2), 17538984 (1) (see all 13)
    inflammatory bowel diseases 87.8 62 17978873 (5), 17451203 (2), 15967635 (2), 19570976 (2) (see all 47)
    colitis ulcerative 84.5 30 15052696 (2), 12019209 (1), 15095125 (1), 17538984 (1) (see all 26)
    colonic diseases 67.6 1 18213697 (1)
    genetic susceptibility 67.3 12 12555995 (1), 17206682 (1), 18473763 (1), 14996717 (1) (see all 11)
    ileitis 63.7 3 16167972 (1), 14570728 (1), 19079235 (1)
    uveitis 63.6 30 18385071 (5), 18219096 (3), 19098321 (3), 14597055 (3) (see all 9)
    inflammation 57.5 61 15539413 (3), 19098321 (3), 15479689 (2), 18305068 (2) (see all 42)
    colitis 54.1 14 19079230 (2), 15095125 (1), 17538984 (1), 19737867 (1) (see all 9)

    Genetic Association Database (GAD): NOD2
    Human Genome Epidemiology (HuGE) Navigator: NOD2 (463 documents)

    Export disorders for NOD2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NOD2 gene, integrated from 9 sources (see all 900):
    (articles sorted by number of sources associating them with NOD2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. (PubMed id 11385576)1, 2, 4 Hugot J.-P.... Thomas G. (2001)
    2. NOD2 (CARD15) mutations in Crohn's disease are associated with diminished mucosal alpha-defensin expression. (PubMed id 15479689)1, 4, 9 Wehkamp J....Stange E.F. (2004)
    3. Influence of a nucleotide oligomerization domain 1 (NOD1) polymorphism and NOD2 mutant alleles on Crohn's disease phenotype. (PubMed id 17907287)1, 4, 9 Canto E....Vidal S. (2007)
    4. Carriage of CARD15 variants and smoking as risk factors for resective surgery in patients with Crohn's ileal disease. (PubMed id 16167972)1, 4, 9 Laghi L....Malesci A. (2005)
    5. CARD15 gene variants and risk of reoperation in Crohn 's disease patients. (PubMed id 19638967)1, 4, 9 Maconi G....Annese V. (2009)
    6. Mutation screening of the CARD15 gene in sarcoidosis. (PubMed id 18384487)1, 4, 9 Akahoshi M....Shirakawa T. (2008)
    7. 1007fs, G908R, R702W mutations and P268S, IVS8+158 polymorphisms of the CARD15 gene in Turkish inflammatory bowel disease patients and their relationship with disease-related surgery. (PubMed id 17978873)1, 4, 9 Ince A.T....Ozbek U. (2008)
    8. The 3020insC NOD2 gene mutation in patients with ovarian cancer. (PubMed id 18819462)1, 4, 9 Magnowski P....Spaczynski M. (2008)
    9. Effect of inflammatory bowel disease classification changes on NOD2 genotype-phenotype associations in a population-based cohort. (PubMed id 17538984)1, 4, 9 Gearry R.B....Barclay M.L. (2007)
    10. Mutation, selection, and evolution of the Crohn disease susceptibility gene CARD15. (PubMed id 16278823)1, 4, 9 King K....Mathew C.G. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 64127 HGNC: 5331 AceView: CARD15 Ensembl:ENSG00000167207 euGenes: HUgn64127
    ECgene: NOD2 Kegg: 64127 H-InvDB: NOD2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NOD2 Pharmacogenomics, SNPs, Pathways
    INFEVERShttp://fmf.igh.cnrs.fr/ISSAID/infevers/search.php?n=6
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NOD2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NOD2 gene:
    Search GeneIP for patents involving NOD2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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