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Q9HC29

- NOD2_HUMAN

UniProt

Q9HC29 - NOD2_HUMAN

Protein

Nucleotide-binding oligomerization domain-containing protein 2

Gene

NOD2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 146 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    Functioni

    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.1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi299 – 3068ATPPROSITE-ProRule annotation

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. CARD domain binding Source: UniProtKB
    3. enzyme binding Source: UniProtKB
    4. muramyl dipeptide binding Source: HGNC
    5. peptidoglycan binding Source: HGNC
    6. protein binding Source: UniProtKB
    7. protein kinase binding Source: UniProtKB

    GO - Biological processi

    1. activation of MAPK activity Source: Reactome
    2. activation of MAPK activity involved in innate immune response Source: BHF-UCL
    3. cellular response to muramyl dipeptide Source: UniProtKB
    4. cellular response to peptidoglycan Source: Ensembl
    5. cytokine production involved in immune response Source: UniProtKB
    6. defense response Source: HGNC
    7. defense response to bacterium Source: HGNC
    8. defense response to Gram-positive bacterium Source: Ensembl
    9. detection of bacterium Source: HGNC
    10. detection of biotic stimulus Source: HGNC
    11. detection of muramyl dipeptide Source: HGNC
    12. immunoglobulin production involved in immunoglobulin mediated immune response Source: Ensembl
    13. innate immune response Source: UniProtKB
    14. innate immune response in mucosa Source: Ensembl
    15. intracellular signal transduction Source: HGNC
    16. JNK cascade Source: Reactome
    17. macrophage inflammatory protein-1 alpha production Source: Ensembl
    18. maintenance of gastrointestinal epithelium Source: UniProt
    19. microglial cell activation involved in immune response Source: Ensembl
    20. MyD88-dependent toll-like receptor signaling pathway Source: Reactome
    21. MyD88-independent toll-like receptor signaling pathway Source: Reactome
    22. negative regulation of growth of symbiont in host Source: Ensembl
    23. negative regulation of inflammatory response to antigenic stimulus Source: Ensembl
    24. negative regulation of interferon-gamma production Source: Ensembl
    25. negative regulation of interleukin-12 production Source: Ensembl
    26. negative regulation of interleukin-18 production Source: Ensembl
    27. negative regulation of interleukin-2 production Source: Ensembl
    28. negative regulation of macrophage apoptotic process Source: BHF-UCL
    29. negative regulation of NF-kappaB transcription factor activity Source: Ensembl
    30. negative regulation of T cell mediated immunity Source: Ensembl
    31. negative regulation of toll-like receptor 2 signaling pathway Source: Ensembl
    32. negative regulation of tumor necrosis factor production Source: Ensembl
    33. nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway Source: Reactome
    34. nucleotide-binding oligomerization domain containing 2 signaling pathway Source: UniProtKB
    35. nucleotide-binding oligomerization domain containing signaling pathway Source: Reactome
    36. pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response Source: Ensembl
    37. positive regulation of B cell activation Source: BHF-UCL
    38. positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria Source: Ensembl
    39. positive regulation of dendritic cell antigen processing and presentation Source: BHF-UCL
    40. positive regulation of dendritic cell cytokine production Source: Ensembl
    41. positive regulation of epithelial cell proliferation Source: BHF-UCL
    42. positive regulation of ERK1 and ERK2 cascade Source: BHF-UCL
    43. positive regulation of gamma-delta T cell activation Source: BHF-UCL
    44. positive regulation of humoral immune response mediated by circulating immunoglobulin Source: Ensembl
    45. positive regulation of I-kappaB kinase/NF-kappaB signaling Source: UniProtKB
    46. positive regulation of interleukin-10 production Source: BHF-UCL
    47. positive regulation of interleukin-12 production Source: Ensembl
    48. positive regulation of interleukin-17 production Source: UniProtKB
    49. positive regulation of interleukin-1 beta production Source: BHF-UCL
    50. positive regulation of interleukin-1 beta secretion Source: HGNC
    51. positive regulation of interleukin-6 production Source: BHF-UCL
    52. positive regulation of JNK cascade Source: MGI
    53. positive regulation of NF-kappaB transcription factor activity Source: UniProtKB
    54. positive regulation of nitric-oxide synthase biosynthetic process Source: BHF-UCL
    55. positive regulation of Notch signaling pathway Source: BHF-UCL
    56. positive regulation of oxidoreductase activity Source: BHF-UCL
    57. positive regulation of peptidyl-tyrosine phosphorylation Source: Ensembl
    58. positive regulation of phagocytosis Source: Ensembl
    59. positive regulation of phosphatidylinositol 3-kinase activity Source: BHF-UCL
    60. positive regulation of prostaglandin-endoperoxide synthase activity Source: BHF-UCL
    61. positive regulation of prostaglandin-E synthase activity Source: BHF-UCL
    62. positive regulation of stress-activated MAPK cascade Source: MGI
    63. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    64. positive regulation of tumor necrosis factor production Source: BHF-UCL
    65. positive regulation of type 2 immune response Source: BHF-UCL
    66. protein oligomerization Source: HGNC
    67. regulation of inflammatory response Source: BHF-UCL
    68. regulation of neutrophil chemotaxis Source: Ensembl
    69. response to exogenous dsRNA Source: Ensembl
    70. response to lipopolysaccharide Source: Ensembl
    71. response to muramyl dipeptide Source: BHF-UCL
    72. response to nutrient Source: Ensembl
    73. stress-activated MAPK cascade Source: Reactome
    74. toll-like receptor 10 signaling pathway Source: Reactome
    75. toll-like receptor 2 signaling pathway Source: Reactome
    76. toll-like receptor 3 signaling pathway Source: Reactome
    77. toll-like receptor 4 signaling pathway Source: Reactome
    78. toll-like receptor 5 signaling pathway Source: Reactome
    79. toll-like receptor 9 signaling pathway Source: Reactome
    80. toll-like receptor signaling pathway Source: Reactome
    81. toll-like receptor TLR1:TLR2 signaling pathway Source: Reactome
    82. toll-like receptor TLR6:TLR2 signaling pathway Source: Reactome
    83. TRIF-dependent toll-like receptor signaling pathway Source: Reactome

    Keywords - Biological processi

    Immunity, Innate immunity

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_21281. TAK1 activates NFkB by phosphorylation and activation of IKKs complex.
    REACT_21368. JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1.
    REACT_21399. activated TAK1 mediates p38 MAPK activation.
    REACT_22442. Interleukin-1 signaling.
    REACT_75776. NOD1/2 Signaling Pathway.
    SignaLinkiQ9HC29.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Nucleotide-binding oligomerization domain-containing protein 2
    Alternative name(s):
    Caspase recruitment domain-containing protein 15
    Inflammatory bowel disease protein 1
    Gene namesi
    Name:NOD2
    Synonyms:CARD15, IBD1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:5331. NOD2.

    Subcellular locationi

    GO - Cellular componenti

    1. cell surface Source: UniProtKB
    2. cytoplasm Source: UniProtKB
    3. cytoskeleton Source: UniProtKB
    4. cytosol Source: HGNC
    5. plasma membrane Source: HGNC
    6. protein complex Source: UniProtKB
    7. vesicle Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Blau syndrome (BS) [MIM:186580]: Rare autosomal dominant disorder characterized by early-onset granulomatous arthritis, uveitis and skin rash.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti334 – 3341R → Q in BS. 1 Publication
    VAR_012676
    Natural varianti334 – 3341R → W in BS. 2 Publications
    VAR_012677
    Natural varianti383 – 3831E → K in BS. 1 Publication
    VAR_023823
    Natural varianti469 – 4691L → F in BS. 1 Publication
    VAR_012685
    Natural varianti605 – 6051T → N in BS. 1 Publication
    VAR_065228
    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.1 Publication
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti382 – 3821D → E in EOS. 1 Publication
    VAR_023822
    Natural varianti496 – 4961H → L in EOS. 1 Publication
    VAR_023824
    Natural varianti612 – 6121A → T in EOS; associated with Crohn disease. 2 Publications
    VAR_012686

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi305 – 3051K → R: No activation. 1 Publication

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi186580. phenotype.
    266600. phenotype.
    609464. phenotype.
    Orphaneti117. Behcet disease.
    90340. Blau syndrome.
    206. Crohn disease.
    771. Ulcerative colitis.
    PharmGKBiPA26074.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 10401040Nucleotide-binding oligomerization domain-containing protein 2PRO_0000004418Add
    BLAST

    Proteomic databases

    PaxDbiQ9HC29.
    PRIDEiQ9HC29.

    PTM databases

    PhosphoSiteiQ9HC29.

    Expressioni

    Tissue specificityi

    Monocytes-specific.

    Gene expression databases

    ArrayExpressiQ9HC29.
    BgeeiQ9HC29.
    CleanExiHS_NOD2.
    GenevestigatoriQ9HC29.

    Organism-specific databases

    HPAiHPA041985.

    Interactioni

    Subunit structurei

    Found in a signaling complex consisting of ARHGEF2, NOD2 and RIPK2. Interacts (via CARD domain) with RIPK2 (via CARD domain). Interacts with ATG16L1. Interacts with CARD9.3 Publications

    Protein-protein interaction databases

    BioGridi122077. 28 interactions.
    DIPiDIP-41998N.
    IntActiQ9HC29. 3 interactions.
    MINTiMINT-151071.
    STRINGi9606.ENSP00000300589.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9HC29.
    SMRiQ9HC29. Positions 291-316, 747-1029.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini26 – 12297CARD 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini126 – 21893CARD 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini293 – 618326NACHTPROSITE-ProRule annotationAdd
    BLAST
    Repeati791 – 81222LRR 1Add
    BLAST
    Repeati816 – 83924LRR 2Add
    BLAST
    Repeati844 – 86522LRR 3Add
    BLAST
    Repeati872 – 88413LRR 4Add
    BLAST
    Repeati900 – 92021LRR 5Add
    BLAST
    Repeati928 – 94922LRR 6Add
    BLAST
    Repeati956 – 97621LRR 7Add
    BLAST
    Repeati984 – 100522LRR 8Add
    BLAST
    Repeati1012 – 103221LRR 9Add
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi63 – 7715ATG16L1-binding motifAdd
    BLAST

    Domaini

    The ATG16L1-binding motif mediates interaction with ATG16L1.1 Publication

    Sequence similaritiesi

    Contains 2 CARD domains.PROSITE-ProRule annotation
    Contains 9 LRR (leucine-rich) repeats.Curated
    Contains 1 NACHT domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Leucine-rich repeat, Repeat

    Phylogenomic databases

    eggNOGiNOG248107.
    HOGENOMiHOG000113814.
    HOVERGENiHBG050792.
    InParanoidiQ9HC29.
    KOiK10165.
    OMAiVWNKGTW.
    OrthoDBiEOG7P5T07.
    PhylomeDBiQ9HC29.
    TreeFamiTF352118.

    Family and domain databases

    Gene3Di1.10.533.10. 2 hits.
    InterProiIPR001315. CARD.
    IPR011029. DEATH-like_dom.
    IPR001611. Leu-rich_rpt.
    IPR007111. NACHT_NTPase.
    IPR027417. P-loop_NTPase.
    [Graphical view]
    PfamiPF00619. CARD. 2 hits.
    [Graphical view]
    SMARTiSM00114. CARD. 1 hit.
    [Graphical view]
    SUPFAMiSSF47986. SSF47986. 2 hits.
    SSF52540. SSF52540. 1 hit.
    PROSITEiPS50209. CARD. 2 hits.
    PS51450. LRR. 4 hits.
    PS50837. NACHT. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative initiation. Align

    Isoform 1 (identifier: Q9HC29-1) [UniParc]FASTAAdd to Basket

    Also known as: Nod2

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MGEEGGSASH DEEERASVLL GHSPGCEMCS QEAFQAQRSQ LVELLVSGSL     50
    EGFESVLDWL LSWEVLSWED YEGFHLLGQP LSHLARRLLD TVWNKGTWAC 100
    QKLIAAAQEA QADSQSPKLH GCWDPHSLHP ARDLQSHRPA IVRRLHSHVE 150
    NMLDLAWERG FVSQYECDEI RLPIFTPSQR ARRLLDLATV KANGLAAFLL 200
    QHVQELPVPL ALPLEAATCK KYMAKLRTTV SAQSRFLSTY DGAETLCLED 250
    IYTENVLEVW ADVGMAGPPQ KSPATLGLEE LFSTPGHLND DADTVLVVGE 300
    AGSGKSTLLQ RLHLLWAAGQ DFQEFLFVFP FSCRQLQCMA KPLSVRTLLF 350
    EHCCWPDVGQ EDIFQLLLDH PDRVLLTFDG FDEFKFRFTD RERHCSPTDP 400
    TSVQTLLFNL LQGNLLKNAR KVVTSRPAAV SAFLRKYIRT EFNLKGFSEQ 450
    GIELYLRKRH HEPGVADRLI RLLQETSALH GLCHLPVFSW MVSKCHQELL 500
    LQEGGSPKTT TDMYLLILQH FLLHATPPDS ASQGLGPSLL RGRLPTLLHL 550
    GRLALWGLGM CCYVFSAQQL QAAQVSPDDI SLGFLVRAKG VVPGSTAPLE 600
    FLHITFQCFF AAFYLALSAD VPPALLRHLF NCGRPGNSPM ARLLPTMCIQ 650
    ASEGKDSSVA ALLQKAEPHN LQITAAFLAG LLSREHWGLL AECQTSEKAL 700
    LRRQACARWC LARSLRKHFH SIPPAAPGEA KSVHAMPGFI WLIRSLYEMQ 750
    EERLARKAAR GLNVGHLKLT FCSVGPTECA ALAFVLQHLR RPVALQLDYN 800
    SVGDIGVEQL LPCLGVCKAL YLRDNNISDR GICKLIECAL HCEQLQKLAL 850
    FNNKLTDGCA HSMAKLLACR QNFLALRLGN NYITAAGAQV LAEGLRGNTS 900
    LQFLGFWGNR VGDEGAQALA EALGDHQSLR WLSLVGNNIG SVGAQALALM 950
    LAKNVMLEEL CLEENHLQDE GVCSLAEGLK KNSSLKILKL SNNCITYLGA 1000
    EALLQALERN DTILEVWLRG NTFSLEEVDK LGCRDTRLLL 1040

    Note: Can activate NF-kappa-B. More abundant.

    Length:1,040
    Mass (Da):115,283
    Last modified:March 1, 2001 - v1
    Checksum:i0037592D96D7DDFF
    GO
    Isoform 2 (identifier: Q9HC29-2) [UniParc]FASTAAdd to Basket

    Also known as: Nod2b

    The sequence of this isoform differs from the canonical sequence as follows:
         1-27: Missing.

    Note: Can activate NF-kappa-B.

    Show »
    Length:1,013
    Mass (Da):112,530
    Checksum:iCB7892AB103A5752
    GO
    Isoform 3 (identifier: Q9HC29-3) [UniParc]FASTAAdd to Basket

    Also known as: NOD2-C2

    The sequence of this isoform differs from the canonical sequence as follows:
         1-27: Missing.
         216-224: AATCKKYMA → DERTEAQKG
         225-1040: Missing.

    Note: Can activate NF-kappa-B.

    Show »
    Length:197
    Mass (Da):22,403
    Checksum:iFC620CEE13BAE115
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti81 – 811L → V.
    Corresponds to variant rs34936594 [ dbSNP | Ensembl ].
    VAR_036871
    Natural varianti140 – 1401A → T Associated with Crohn disease and ulcerative colitis. 1 Publication
    Corresponds to variant rs34684955 [ dbSNP | Ensembl ].
    VAR_012665
    Natural varianti157 – 1571W → R Associated with Crohn disease. 1 Publication
    VAR_012666
    Natural varianti189 – 1891T → M.1 Publication
    Corresponds to variant rs61755182 [ dbSNP | Ensembl ].
    VAR_012667
    Natural varianti235 – 2351R → C Associated with Crohn disease. 1 Publication
    VAR_012668
    Natural varianti248 – 2481L → R Associated with Crohn disease. 1 Publication
    Corresponds to variant rs104895423 [ dbSNP | Ensembl ].
    VAR_012669
    Natural varianti268 – 2681P → S.1 Publication
    Corresponds to variant rs2066842 [ dbSNP | Ensembl ].
    VAR_012670
    Natural varianti289 – 2891N → S.1 Publication
    Corresponds to variant rs5743271 [ dbSNP | Ensembl ].
    VAR_012671
    Natural varianti291 – 2911D → N Associated with Crohn disease. 1 Publication
    VAR_012672
    Natural varianti294 – 2941T → S Associated with Crohn disease.
    VAR_012673
    Natural varianti301 – 3011A → V Associated with Crohn disease. 1 Publication
    VAR_012674
    Natural varianti311 – 3111R → W Associated with Crohn disease and ulcerative colitis. 1 Publication
    VAR_012675
    Natural varianti334 – 3341R → Q in BS. 1 Publication
    VAR_012676
    Natural varianti334 – 3341R → W in BS. 2 Publications
    VAR_012677
    Natural varianti348 – 3481L → V Associated with Crohn disease. 1 Publication
    VAR_012678
    Natural varianti352 – 3521H → R Associated with Crohn disease. 1 Publication
    Corresponds to variant rs5743272 [ dbSNP | Ensembl ].
    VAR_012679
    Natural varianti373 – 3731R → C Associated with Crohn disease. 1 Publication
    VAR_012680
    Natural varianti382 – 3821D → E in EOS. 1 Publication
    VAR_023822
    Natural varianti383 – 3831E → K in BS. 1 Publication
    VAR_023823
    Natural varianti414 – 4141N → S Associated with Crohn disease. 1 Publication
    VAR_012681
    Natural varianti431 – 4311S → L Associated with Crohn disease. 1 Publication
    Corresponds to variant rs104895431 [ dbSNP | Ensembl ].
    VAR_012682
    Natural varianti432 – 4321A → V Associated with Crohn disease. 1 Publication
    Corresponds to variant rs2076754 [ dbSNP | Ensembl ].
    VAR_012683
    Natural varianti441 – 4411E → K Associated with Crohn disease. 1 Publication
    VAR_012684
    Natural varianti469 – 4691L → F in BS. 1 Publication
    VAR_012685
    Natural varianti471 – 4711R → C.
    Corresponds to variant rs1078327 [ dbSNP | Ensembl ].
    VAR_036872
    Natural varianti496 – 4961H → L in EOS. 1 Publication
    VAR_023824
    Natural varianti605 – 6051T → N in BS. 1 Publication
    VAR_065228
    Natural varianti612 – 6121A → T in EOS; associated with Crohn disease. 2 Publications
    VAR_012686
    Natural varianti612 – 6121A → V Associated with Crohn disease. 1 Publication
    VAR_012687
    Natural varianti684 – 6841R → W Associated with Crohn disease. 1 Publication
    Corresponds to variant rs5743276 [ dbSNP | Ensembl ].
    VAR_012688
    Natural varianti702 – 7021R → W Associated with Crohn disease. 1 Publication
    Corresponds to variant rs2066844 [ dbSNP | Ensembl ].
    VAR_012689
    Natural varianti703 – 7031R → C Associated with Crohn disease and ulcerative colitis. 1 Publication
    Corresponds to variant rs5743277 [ dbSNP | Ensembl ].
    VAR_012690
    Natural varianti713 – 7131R → C Associated with Crohn disease. 1 Publication
    VAR_012691
    Natural varianti725 – 7251A → G Associated with Crohn disease. 1 Publication
    Corresponds to variant rs5743278 [ dbSNP | Ensembl ].
    VAR_012692
    Natural varianti755 – 7551A → V Associated with Crohn disease and ulcerative colitis. 1 Publication
    Corresponds to variant rs61747625 [ dbSNP | Ensembl ].
    VAR_012693
    Natural varianti758 – 7581A → V Associated with Crohn disease. 1 Publication
    VAR_012694
    Natural varianti778 – 7781E → K Associated with Crohn disease. 1 Publication
    VAR_012695
    Natural varianti790 – 7901R → Q.
    Corresponds to variant rs5743279 [ dbSNP | Ensembl ].
    VAR_024402
    Natural varianti793 – 7931V → M Associated with Crohn disease. 1 Publication
    Corresponds to variant rs104895444 [ dbSNP | Ensembl ].
    VAR_012696
    Natural varianti843 – 8431E → K Associated with Crohn disease. 1 Publication
    VAR_012697
    Natural varianti853 – 8531N → S Associated with Crohn disease. 1 Publication
    VAR_012698
    Natural varianti863 – 8631M → V Associated with Crohn disease. 1 Publication
    Corresponds to variant rs104895447 [ dbSNP | Ensembl ].
    VAR_012699
    Natural varianti885 – 8851A → T Associated with ulcerative colitis. 1 Publication
    VAR_012700
    Natural varianti908 – 9081G → R Associated with Crohn disease. 2 Publications
    Corresponds to variant rs2066845 [ dbSNP | Ensembl ].
    VAR_012701
    Natural varianti918 – 9181A → D Associated with Crohn disease. 1 Publication
    Corresponds to variant rs104895452 [ dbSNP | Ensembl ].
    VAR_012702
    Natural varianti924 – 9241G → D Associated with Crohn disease. 1 Publication
    VAR_012703
    Natural varianti955 – 9551V → I.1 Publication
    Corresponds to variant rs5743291 [ dbSNP | Ensembl ].
    VAR_012704

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 2727Missing in isoform 2 and isoform 3. 2 PublicationsVSP_018689Add
    BLAST
    Alternative sequencei216 – 2249AATCKKYMA → DERTEAQKG in isoform 3. 1 PublicationVSP_046567
    Alternative sequencei225 – 1040816Missing in isoform 3. 1 PublicationVSP_046568Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF178930 mRNA. Translation: AAG33677.1.
    AF385089 Genomic DNA. Translation: AAK70867.1.
    AF385090 Genomic DNA. Translation: AAK70868.1.
    AJ303140 Genomic DNA. Translation: CAC42117.1.
    HQ204571 mRNA. Translation: ADN95581.1.
    CCDSiCCDS10746.1. [Q9HC29-1]
    RefSeqiNP_071445.1. NM_022162.2. [Q9HC29-1]
    XP_005256141.1. XM_005256084.1. [Q9HC29-2]
    UniGeneiHs.592072.

    Genome annotation databases

    EnsembliENST00000300589; ENSP00000300589; ENSG00000167207. [Q9HC29-1]
    GeneIDi64127.
    KEGGihsa:64127.
    UCSCiuc002egl.1. human. [Q9HC29-1]

    Polymorphism databases

    DMDMi20137973.

    Keywords - Coding sequence diversityi

    Alternative initiation, Polymorphism

    Cross-referencesi

    Web resourcesi

    INFEVERS

    Repertory of FMF and hereditary autoinflammatory disorders mutations

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF178930 mRNA. Translation: AAG33677.1 .
    AF385089 Genomic DNA. Translation: AAK70867.1 .
    AF385090 Genomic DNA. Translation: AAK70868.1 .
    AJ303140 Genomic DNA. Translation: CAC42117.1 .
    HQ204571 mRNA. Translation: ADN95581.1 .
    CCDSi CCDS10746.1. [Q9HC29-1 ]
    RefSeqi NP_071445.1. NM_022162.2. [Q9HC29-1 ]
    XP_005256141.1. XM_005256084.1. [Q9HC29-2 ]
    UniGenei Hs.592072.

    3D structure databases

    ProteinModelPortali Q9HC29.
    SMRi Q9HC29. Positions 291-316, 747-1029.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122077. 28 interactions.
    DIPi DIP-41998N.
    IntActi Q9HC29. 3 interactions.
    MINTi MINT-151071.
    STRINGi 9606.ENSP00000300589.

    Chemistry

    BindingDBi Q9HC29.
    ChEMBLi CHEMBL1293266.
    GuidetoPHARMACOLOGYi 1763.

    PTM databases

    PhosphoSitei Q9HC29.

    Polymorphism databases

    DMDMi 20137973.

    Proteomic databases

    PaxDbi Q9HC29.
    PRIDEi Q9HC29.

    Protocols and materials databases

    DNASUi 64127.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000300589 ; ENSP00000300589 ; ENSG00000167207 . [Q9HC29-1 ]
    GeneIDi 64127.
    KEGGi hsa:64127.
    UCSCi uc002egl.1. human. [Q9HC29-1 ]

    Organism-specific databases

    CTDi 64127.
    GeneCardsi GC16P050729.
    HGNCi HGNC:5331. NOD2.
    HPAi HPA041985.
    MIMi 186580. phenotype.
    266600. phenotype.
    605956. gene.
    609464. phenotype.
    neXtProti NX_Q9HC29.
    Orphaneti 117. Behcet disease.
    90340. Blau syndrome.
    206. Crohn disease.
    771. Ulcerative colitis.
    PharmGKBi PA26074.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG248107.
    HOGENOMi HOG000113814.
    HOVERGENi HBG050792.
    InParanoidi Q9HC29.
    KOi K10165.
    OMAi VWNKGTW.
    OrthoDBi EOG7P5T07.
    PhylomeDBi Q9HC29.
    TreeFami TF352118.

    Enzyme and pathway databases

    Reactomei REACT_21281. TAK1 activates NFkB by phosphorylation and activation of IKKs complex.
    REACT_21368. JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1.
    REACT_21399. activated TAK1 mediates p38 MAPK activation.
    REACT_22442. Interleukin-1 signaling.
    REACT_75776. NOD1/2 Signaling Pathway.
    SignaLinki Q9HC29.

    Miscellaneous databases

    GeneWikii NOD2.
    GenomeRNAii 64127.
    NextBioi 35496989.
    PROi Q9HC29.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9HC29.
    Bgeei Q9HC29.
    CleanExi HS_NOD2.
    Genevestigatori Q9HC29.

    Family and domain databases

    Gene3Di 1.10.533.10. 2 hits.
    InterProi IPR001315. CARD.
    IPR011029. DEATH-like_dom.
    IPR001611. Leu-rich_rpt.
    IPR007111. NACHT_NTPase.
    IPR027417. P-loop_NTPase.
    [Graphical view ]
    Pfami PF00619. CARD. 2 hits.
    [Graphical view ]
    SMARTi SM00114. CARD. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47986. SSF47986. 2 hits.
    SSF52540. SSF52540. 1 hit.
    PROSITEi PS50209. CARD. 2 hits.
    PS51450. LRR. 4 hits.
    PS50837. NACHT. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Nod2, a Nod1/Apaf-1 family member that is restricted to monocytes and activates NF-kappaB."
      Ogura Y., Inohara N., Benito A., Chen F.F., Yamaoka S., Nunez G.
      J. Biol. Chem. 276:4812-4818(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), MUTAGENESIS OF LYS-305, VARIANT ARG-908.
      Tissue: Mammary gland.
    2. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1 AND 2), VARIANTS THR-140; ARG-157; MET-189; CYS-235; ARG-248; SER-268; SER-289; ASN-291; VAL-301; TRP-311; VAL-348; ARG-352; CYS-373; SER-414; LEU-431; VAL-432; LYS-441; VAL-612; THR-612; TRP-684; TRP-702; CYS-703; CYS-713; GLY-725; VAL-755; VAL-758; LYS-778; MET-793; LYS-843; SER-853; VAL-863; THR-885; ARG-908; ASP-918; ASP-924 AND ILE-955, INVOLVEMENT IN IBD1.
      Tissue: Leukocyte.
    3. "NOD2-C2 - a novel NOD2 isoform activating NF-kappaB in a muramyl dipeptide-independent manner."
      Kramer M., Boeck J., Reichenbach D., Kaether C., Schreiber S., Platzer M., Rosenstiel P., Huse K.
      BMC Res. Notes 3:224-224(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
    4. "ITCH K63-ubiquitinates the NOD2 binding protein, RIP2, to influence inflammatory signaling pathways."
      Tao M., Scacheri P.C., Marinis J.M., Harhaj E.W., Matesic L.E., Abbott D.W.
      Curr. Biol. 19:1255-1263(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH RIPK2.
    5. Cited for: IDENTIFICATION IN A COMPLEX WITH ARHGEF2 AND RIPK2, INTERACTION WITH RIPK2.
    6. "TMEM59 defines a novel ATG16L1-binding motif that promotes local activation of LC3."
      Boada-Romero E., Letek M., Fleischer A., Pallauf K., Ramon-Barros C., Pimentel-Muinos F.X.
      EMBO J. 32:566-582(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH ATG16L1.
    7. Cited for: FUNCTION.
    8. Cited for: VARIANTS BS GLN-334; TRP-334 AND PHE-469.
    9. "Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome."
      Kanazawa N., Okafuji I., Kambe N., Nishikomori R., Nakata-Hizume M., Nagai S., Fuji A., Yuasa T., Manki A., Sakurai Y., Nakajima M., Kobayashi H., Fujiwara I., Tsutsumi H., Utani A., Nishigori C., Heike T., Nakahata T., Miyachi Y.
      Blood 105:1195-1197(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS EOS GLU-382; LEU-496 AND THR-612.
    10. Cited for: VARIANT BS LYS-383.
    11. "A novel mutation in the NOD2 gene associated with Blau syndrome: a Norwegian family with four affected members."
      Milman N., Ursin K., Rodevand E., Nielsen F.C., Hansen T.V.
      Scand. J. Rheumatol. 38:190-197(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT BS ASN-605.
    12. "Sporadic Blau syndrome with onset of widespread granulomatous dermatitis in the newborn period."
      Stoevesandt J., Morbach H., Martin T.M., Zierhut M., Girschick H., Hamm H.
      Pediatr. Dermatol. 27:69-73(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT BS TRP-334.

    Entry informationi

    Entry nameiNOD2_HUMAN
    AccessioniPrimary (citable) accession number: Q9HC29
    Secondary accession number(s): E2JEQ6
    , Q96RH5, Q96RH6, Q96RH8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 31, 2002
    Last sequence update: March 1, 2001
    Last modified: October 1, 2014
    This is version 146 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 16
      Human chromosome 16: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3