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

NOD2 Gene

protein-coding   GIFtS: 60
GCID: GC16P050729

nucleotide-binding oligomerization domain containing 2

(Previous names: caspase recruitment domain family, member 15 )
(Previous symbols: IBD1, CARD15)
 Explore 111 diseases affiliated with
NOD2 via our new
 Human Malady Compendium 
Biological research products
for NOD2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Nucleotide-Binding Oligomerization Domain Containing 21 2     Inflammatory Bowel Disease Protein 12 3
CARD151 2 3 5     ACUG2 5
IBD11 2 3 5     NOD2B2
CD1 2 5     Caspase Recruitment Domain Protein 152
PSORAS11 2 5     NLR Family, CARD Domain Containing 22
BLAU1 2     NOD-Like Receptor C22
CLR16.31 2     Nucleotide-Binding Oligomerization Domain 22
NLRC21 2     Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And CARD Domain
Containing 22
Caspase Recruitment Domain Family, Member 151 2     Nucleotide-Binding Oligomerization Domain-Containing Protein 22
Caspase Recruitment Domain-Containing Protein 152 3     

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:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010498.15  
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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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: Q96RH5 Q96RH6 Q96RH8
Alternative initiation: 2 isoforms:  Q9HC29-1   Q9HC29-2   (Can activate NF-kappa-B)

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9HC29

  • NOD2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_071445.1  
    ENSEMBL proteins: 
     ENSP00000431681   ENSP00000300589   ENSP00000435149   ENSP00000463145   ENSP00000462443  
     ENSP00000464065   ENSP00000463423   ENSP00000437246  
    Reactome Protein details: Q9HC29
    Human Recombinant Protein Products: 
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    Uscn 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 signalosome IDA17337451


    NOD2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    NOD2 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR007111 NACHT_NTPase
     IPR001611 Leu-rich_rpt
     IPR011029 DEATH-like_dom
     IPR001315 CARD

    Graphical View of Domain Structure for InterPro Entry Q9HC29

    ProtoNet protein and cluster: Q9HC29

    1 Blocks protein family: 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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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)

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    hsa-miR-30c hsa-miR-3607-3p hsa-miR-875-3p hsa-miR-4328 hsa-miR-520d-5p hsa-miR-513a-5p hsa-miR-2110 hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmidNOD2 3' UTR sequence
    Inhib. RNA
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    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 IPI19337385
    GO:0005524ATP binding IEA--
    GO:0019899enzyme binding IPI15753091
    GO:0019901protein kinase binding IPI15075345
    GO:0032500muramyl dipeptide binding IDA15998797


    NOD2 for ontologies           About GeneDecksing


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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/10 super-pathways (see all 10About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1TRAF6 Mediated Induction of proinflammatory cytokines
    8/19 pathways (see all 19)
    TRAF6 Mediated Induction of proinflammatory cytokines1.00
    Toll Like Receptor TLR1:TLR2 Cascade0.78
    MAP kinase activation in TLR cascade0.88
    Toll Like Receptor 2 (TLR2) Cascade0.78
    Toll Like Receptor 5 (TLR5) Cascade0.86
    MyD88:Mal cascade initiated on plasma membrane0.78
    Toll Like Receptor 10 (TLR10) Cascade0.86
    TRIF-mediated TLR3/TLR4 signaling 0.73
    2JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1
    JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK11.00
    activated TAK1 mediates p38 MAPK activation0.58
    TAK1 is activated0.60
    TAK1 activates NFkB by phosphorylation and activation of IKKs complex0.56
    3Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
    Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways1.00
    NOD-like receptor signaling pathway0.36
    NOD1/2 Signaling Pathway0.69
    NOD pathway0.23
    4Immune System
    Immune System1.00
    Innate Immune System0.46
    5Cytokine Signaling in Immune system
    Cytokine Signaling in Immune system1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    5/30        Reactome Pathways for NOD2 (see all 30)
        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


    3         Kegg Pathways  (Kegg details for NOD2):
        NOD-like receptor signaling pathway
    Shigellosis
    Tuberculosis


    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)

    5/43 Interacting proteins for NOD2 (Q9HC292, 3 ENSP000003005894) via UniProtKB, MINT, STRING, and/or I2D (see all 43)
    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): 5/83 biological process terms (GO ID links to tree view) (see all 83):    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, 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
    10/17 Novoseek 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 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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

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    Additional cDNA 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):

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

    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
    CGAP TAG: GCCGTGAACT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene 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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              Antibacterial Response in human mouse rat

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    In Situ
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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 1/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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 18 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, UniProtKB, 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

    10/847 NCBI SNPs in NOD2 are shown (see all 847    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048954621,2
    Cpathogenic50744822(+) GCTGCC/TGGCAG 2 R W mis10--------
    rs1048954611,2
    Cpathogenic50744823(+) CTGCCA/GGCAGC 2 Q R mis10--------
    rs1048954761,2
    Cpathogenic50744968(+) TTTGAC/G/TGAGTT 3 D E mis1 syn11NA 4552
    rs1048954771,2
    Cpathogenic50744969(+) TTGACA/GAGTTC 2 K E mis10--------
    rs1048954601,2
    Cpathogenic50745227(+) ACCGCC/TTCATC 2 L F mis10--------
    rs1048954721,2
    Cpathogenic50745309(+) ATGCCA/TCCAGG 2 H L mis10--------
    rs1048954381,2
    Cpathogenic50745656(+) TTGCCG/ACGTTC 2 /T /A mis11Minor allele frequency- A:0.00EU 1321
    rs1048954211,2
    C,F,untested50733392(+) TCTCCT/ACCCCA 1 -- int11Minor allele frequency- A:0.01EU 1323
    rs1048954681,2
    Cuntested50733662(+) AGGCCG/AACAGC 2 /N /D mis11Minor allele frequency- A:0.00NA 4388
    rs1048954561,2
    C,untested50733738(+) TCACCG/AGCCAG 2 /Q /R mis11Minor allele frequency- A:0.00NA 4542

    HapMap Linkage Disequilibrium report for NOD2 (50727514 - 50766988 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          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
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NOD2
    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    NOD2 for disorders           About GeneDecksing

    OMIM gene information: 605956   
    OMIM disorders: 266600  186580  607507  609464  
    UniProtKB/Swiss-Prot: NOD2_HUMAN, Q9HC29
  • Defects in NOD2 are the cause of Blau syndrome (BS) [MIM:186580]. BS is a rare autosomal dominant disorder
  • characterized by early-onset granulomatous arthritis, uveitis and skin rash
  • Defects in NOD2 are a cause of susceptibility to inflammatory bowel disease type 1 (IBD1) [MIM:266600]. IBD1
  • is 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
  • Defects in NOD2 are the cause of sarcoidosis early-onset (EOS) [MIM:609464]. EOS is 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

    20/111 diseases for NOD2 (see all 111):    About MalaCards
    inflammatory bowel disease    blau syndrome    crohn's disease    pyoderma gangrenosum
    graft versus host disease    familial mediterranean fever    diffuse large b-cell lymphoma    acute graft versus host disease
    hidradenitis suppurativa    sclerosing cholangitis    b-cell lymphomas    primary sclerosing cholangitis
    psoriatic arthritis    pyoderma    guttate psoriasis    non-hodgkin lymphoma
    inflammatory bowel disease 1    hidradenitis    wegener's granulomatosis    rheumatoid arthritis

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

    10/50 Novoseek 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 874):
    (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, a Nod1/Apaf-1 family member that is restricted to monocytes and activates NF-kappaB. (PubMed id 11087742)1, 2, 9 Ogura Y.... Nunez G. (2001)
    3. A novel mutation in the NOD2 gene associated with Blau syndrome: a Norwegian family with four affected members. (PubMed id 19169908)1, 2, 9 Milman N....Hansen T.V. (2009)
    4. ITCH K63-ubiquitinates the NOD2 binding protein, RIP2 , to influence inflammatory signaling pathways. (PubMed id 19592251)1, 2, 9 Tao M....Abbott D.W. (2009)
    5. A new CARD15 mutation in Blau syndrome. (PubMed id 15812565)1, 2, 9 van Duist M.M.... De Marchi M. (2005)
    6. Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome. (PubMed id 15459013)1, 2, 9 Kanazawa N.... Miyachi Y. (2005)
    7. CARD15 mutations in Blau syndrome. (PubMed id 11528384)1, 2, 9 Miceli-Richard C....Hugot J.-P. (2001)
    8. Mapping of a susceptibility locus for Crohn's disease on chromosome 16. (PubMed id 8587604)1, 3 Hugot J.P....Thomas G. (1996)
    9. Molecular evidence for two forms of Crohn disease. (PubMed id 7809109)1, 3 Gilberts E.C....Greenstein R.J. (1994)
    10. The pathogen recognition sensor, NOD2, is variably expressed in patients with pulmonary tuberculosis. (PubMed id 17705850)1, 9 Lala S....Zumla A. (2007)

    (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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