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Q9HC29

- NOD2_HUMAN

UniProt

Q9HC29 - NOD2_HUMAN

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Protein
Nucleotide-binding oligomerization domain-containing protein 2
Gene
NOD2, CARD15, IBD1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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 – 3068ATP Reviewed prediction

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

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.4 Publications
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.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.1 Publication
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.1 Publication
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 2
PRO_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. 2 interactions.
MINTiMINT-151071.
STRINGi9606.ENSP00000300589.

Structurei

3D structure databases

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

Family & Domainsi

Domains and Repeats

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

Motif

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

Domaini

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

Sequence similaritiesi

Contains 2 CARD domains.
Contains 1 NACHT domain.

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.
VSP_018689Add
BLAST
Alternative sequencei216 – 2249AATCKKYMA → DERTEAQKG in isoform 3.
VSP_046567
Alternative sequencei225 – 1040816Missing in isoform 3.
VSP_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. 2 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: September 3, 2014
This is version 145 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

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