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Protein

Nucleotide-binding oligomerization domain-containing protein 2

Gene

NOD2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Involved in gastrointestinal immunity. Upon stimulation by muramyl dipeptide (MDP), a fragment of bacterial peptidoglycan, binds the proximal adapter receptor-interacting RIPK2, which recruits ubiquitin ligases as XIAP, BIRC2, BIRC3, INAVA and the LUBAC complex, triggering activation of MAP kinases and activation of NF-kappa-B signaling. This in turn leads to the transcriptional activation of hundreds of genes involved in immune response. Required for MDP-induced NLRP1-dependent CASP1 activation and IL1B release in macrophages (PubMed:18511561). Component of an autophagy-mediated antibacterial pathway together with ATG16L1 (PubMed:20637199). Plays also a role in sensing single-stranded RNA (ssRNA) from viruses. Interacts with mitochondrial antiviral signaling/MAVS, leading to activation of interferon regulatory factor-3/IRF3 and expression of type I interferon (PubMed:19701189).5 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi299 – 306ATPPROSITE-ProRule annotation8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processImmunity, Innate immunity
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-168638 NOD1/2 Signaling Pathway
R-HSA-445989 TAK1 activates NFkB by phosphorylation and activation of IKKs complex
R-HSA-450302 activated TAK1 mediates p38 MAPK activation
R-HSA-450321 JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1
R-HSA-5689896 Ovarian tumor domain proteases
R-HSA-9020702 Interleukin-1 signaling

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
Q9HC29

SIGNOR Signaling Network Open Resource

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SIGNORi
Q9HC29

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NOD2
Synonyms:CARD15, IBD1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 16

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000167207.11

Human Gene Nomenclature Database

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HGNCi
HGNC:5331 NOD2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
605956 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9HC29

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane, Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Blau syndrome (BLAUS)13 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant inflammatory disorder characterized by the formation of immune granulomas invading the skin, joints and eye. Other organs may be involved. Clinical manifestations are variable and include early-onset granulomatous arthritis, uveitis and skin rash. Blindness, joint destruction and visceral involvement have been reported in severe cases.
See also OMIM:186580
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012676334R → Q in BLAUS; somatic mosaicism in 4.9% to 11% of peripheral blood cells; hyperactive; abolishes interaction with LDOC1, ANKHD1, PPP2R3B, ENTR1 and TRIM41; decreases interaction with RIPK2 and PPP1R12C; no effect on interaction with CHMP5. 6 PublicationsCorresponds to variant dbSNP:rs104895461EnsemblClinVar.1
Natural variantiVAR_012677334R → W in BLAUS; no disruption of NOD2-CARD9 interaction; hyperactive. 7 PublicationsCorresponds to variant dbSNP:rs104895462EnsemblClinVar.1
Natural variantiVAR_023822382D → E in BLAUS; hyperactive. 2 PublicationsCorresponds to variant dbSNP:rs104895476EnsemblClinVar.1
Natural variantiVAR_073231383E → G in BLAUS; unknown pathological significance; hyperactive. 2 PublicationsCorresponds to variant dbSNP:rs104895493EnsemblClinVar.1
Natural variantiVAR_023823383E → K in BLAUS; hyperactive. 3 PublicationsCorresponds to variant dbSNP:rs104895477EnsemblClinVar.1
Natural variantiVAR_012685469L → F in BLAUS; hyperactive. 2 PublicationsCorresponds to variant dbSNP:rs104895460EnsemblClinVar.1
Natural variantiVAR_073235481G → D in BLAUS; atypical form with cardiac infiltration; sporadic case; unknown pathological significance; hyperactive. 2 PublicationsCorresponds to variant dbSNP:rs104895494EnsemblClinVar.1
Natural variantiVAR_073236490W → L in BLAUS; unknown pathological significance; hyperactive. 2 PublicationsCorresponds to variant dbSNP:rs104895480EnsemblClinVar.1
Natural variantiVAR_073237495C → Y in BLAUS; unknown pathological significance; hyperactive. 3 PublicationsCorresponds to variant dbSNP:rs104895478EnsemblClinVar.1
Natural variantiVAR_023824496H → L in BLAUS; hyperactive. 3 PublicationsCorresponds to variant dbSNP:rs104895472EnsemblClinVar.1
Natural variantiVAR_073180507P → S in BLAUS. 1 Publication1
Natural variantiVAR_073238513M → T in BLAUS; hyperactive. 3 PublicationsCorresponds to variant dbSNP:rs104895473EnsemblClinVar.1
Natural variantiVAR_073240587R → C in BLAUS; unknown pathological significance; not hyperactive. 2 PublicationsCorresponds to variant dbSNP:rs104895479EnsemblClinVar.1
Natural variantiVAR_065228605T → N in BLAUS; hyperactive. 2 Publications1
Natural variantiVAR_073241605T → P in BLAUS; hyperactive. 3 PublicationsCorresponds to variant dbSNP:rs104895474EnsemblClinVar.1
Natural variantiVAR_012686612A → T in BLAUS and IBD1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs104895438EnsemblClinVar.1
Natural variantiVAR_073242670N → K in BLAUS; hyperactive. 3 PublicationsCorresponds to variant dbSNP:rs104895475EnsemblClinVar.1
Inflammatory bowel disease 1 (IBD1)6 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:266600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073228113D → N in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895468EnsemblClinVar.1
Natural variantiVAR_012665140A → T in IBD1; also found in patients with ulcerative colitis; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs34684955EnsemblClinVar.1
Natural variantiVAR_012666157W → R in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895420EnsemblClinVar.1
Natural variantiVAR_012668235R → C in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895422EnsemblClinVar.1
Natural variantiVAR_012669248L → R in IBD1; unknown pathological significance; no disruption of NOD2-CARD9 interaction. 2 PublicationsCorresponds to variant dbSNP:rs104895423EnsemblClinVar.1
Natural variantiVAR_012672291D → N in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895424EnsemblClinVar.1
Natural variantiVAR_012673294T → S in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895425EnsemblClinVar.1
Natural variantiVAR_012674301A → V in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895426EnsemblClinVar.1
Natural variantiVAR_012675311R → W in IBD1; also found in patients with ulcerative colitis; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs104895427EnsemblClinVar.1
Natural variantiVAR_012678348L → V in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895428EnsemblClinVar.1
Natural variantiVAR_012679352H → R in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs5743272EnsemblClinVar.1
Natural variantiVAR_073229357D → A in IBD1; unknown pathological significance; no disruption of NOD2-CARD9 interaction. 2 PublicationsCorresponds to variant dbSNP:rs104895469EnsemblClinVar.1
Natural variantiVAR_073230363I → F in IBD1; unknown pathological significance; no disruption of NOD2-CARD9 interaction. 2 PublicationsCorresponds to variant dbSNP:rs104895470EnsemblClinVar.1
Natural variantiVAR_012680373R → C in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs145293873EnsemblClinVar.1
Natural variantiVAR_012681414N → S in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895429EnsemblClinVar.1
Natural variantiVAR_012682431S → L in IBD1; unknown pathological significance; no disruption of NOD2-CARD9 interaction. 2 PublicationsCorresponds to variant dbSNP:rs104895431EnsemblClinVar.1
Natural variantiVAR_012683432A → V in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs2076754Ensembl.1
Natural variantiVAR_012684441E → K in IBD1; unknown pathological significance; no disruption of NOD2-CARD9 interaction. 2 PublicationsCorresponds to variant dbSNP:rs104895432EnsemblClinVar.1
Natural variantiVAR_073239550L → V in IBD1; unknown pathological significance; no disruption of NOD2-CARD9 interaction. 2 PublicationsCorresponds to variant dbSNP:rs104895471EnsemblClinVar.1
Natural variantiVAR_012686612A → T in BLAUS and IBD1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs104895438EnsemblClinVar.1
Natural variantiVAR_012687612A → V in IBD1; unknown pathological significance; no disruption of NOD2-CARD9 interaction. 2 PublicationsCorresponds to variant dbSNP:rs104895439EnsemblClinVar.1
Natural variantiVAR_012688684R → W in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs5743276EnsemblClinVar.1
Natural variantiVAR_012689702R → W in IBD1 and YAOS; associated with disease susceptibility; no disruption of NOD2-CARD9 interaction; decreases half-life of protein; abolishes interaction with ANKHD1, ENTR1 and TRIM41; increases interaction with RIPK2 and PPP2R3B; decreases interaction with LDOC1 and PPP1R12C; no effect on interaction with CHMP5. 6 PublicationsCorresponds to variant dbSNP:rs2066844EnsemblClinVar.1
Natural variantiVAR_012690703R → C in IBD1; also found in patients with ulcerative colitis; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs5743277EnsemblClinVar.1
Natural variantiVAR_012691713R → C in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895440EnsemblClinVar.1
Natural variantiVAR_073243713R → H in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895483EnsemblClinVar.1
Natural variantiVAR_012692725A → G in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs5743278EnsemblClinVar.1
Natural variantiVAR_012693755A → V in IBD1; also found in patients with ulcerative colitis; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs61747625EnsemblClinVar.1
Natural variantiVAR_012694758A → V in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895442EnsemblClinVar.1
Natural variantiVAR_073244760R → C in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs3813758Ensembl.1
Natural variantiVAR_012695778E → K in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895443EnsemblClinVar.1
Natural variantiVAR_073245790R → W in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs62029861Ensembl.1
Natural variantiVAR_012696793V → M in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895444EnsemblClinVar.1
Natural variantiVAR_012697843E → K in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895445EnsemblClinVar.1
Natural variantiVAR_073249852N → S in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895467EnsemblClinVar.1
Natural variantiVAR_012698853N → S in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895446EnsemblClinVar.1
Natural variantiVAR_012699863M → V in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895447EnsemblClinVar.1
Natural variantiVAR_012700885A → T in IBD1; unknown pathological significance. 1 Publication1
Natural variantiVAR_012701908G → R in IBD1 and YAOS; associated with disease susceptibility; decreases half-life of protein; abolishes interaction with ANKHD1, ENTR1 and TRIM41; decreases interaction with RIPK2 and PPP1R12C; no effect on interaction with CHMP5, LDOC1 and PPP2R3B. 6 PublicationsCorresponds to variant dbSNP:rs2066845EnsemblClinVar.1
Natural variantiVAR_012703924G → D in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895453EnsemblClinVar.1
Yao syndrome (YAOS)2 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionAn autoinflammatory disease characterized by periodic fever, dermatitis, polyarthritis, leg swelling, and gastrointestinal and sicca-like symptoms. YAOS is a complex disease with multifactorial inheritance.
See also OMIM:617321
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_012689702R → W in IBD1 and YAOS; associated with disease susceptibility; no disruption of NOD2-CARD9 interaction; decreases half-life of protein; abolishes interaction with ANKHD1, ENTR1 and TRIM41; increases interaction with RIPK2 and PPP2R3B; decreases interaction with LDOC1 and PPP1R12C; no effect on interaction with CHMP5. 6 PublicationsCorresponds to variant dbSNP:rs2066844EnsemblClinVar.1
Natural variantiVAR_012701908G → R in IBD1 and YAOS; associated with disease susceptibility; decreases half-life of protein; abolishes interaction with ANKHD1, ENTR1 and TRIM41; decreases interaction with RIPK2 and PPP1R12C; no effect on interaction with CHMP5, LDOC1 and PPP2R3B. 6 PublicationsCorresponds to variant dbSNP:rs2066845EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi305K → R: No activation. 1 Publication1
Mutagenesisi379D → A: No disruption in NOD2-CARD9 interaction. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

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DisGeNETi
64127

MalaCards human disease database

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MalaCardsi
NOD2
MIMi186580 phenotype
266600 phenotype
617321 phenotype

Open Targets

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OpenTargetsi
ENSG00000167207

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
90340 Blau syndrome
206 NON RARE IN EUROPE: Crohn disease
771 NON RARE IN EUROPE: Ulcerative colitis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA26074

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL1293266

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
1763

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
NOD2

Domain mapping of disease mutations (DMDM)

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DMDMi
20137973

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000044181 – 1040Nucleotide-binding oligomerization domain-containing protein 2Add BLAST1040

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Polyubiquitinated following MDP stimulation, leading to proteasome-mediated degradation (PubMed:23019338).1 Publication

Keywords - PTMi

Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9HC29

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9HC29

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9HC29

PeptideAtlas

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PeptideAtlasi
Q9HC29

PRoteomics IDEntifications database

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PRIDEi
Q9HC29

ProteomicsDB human proteome resource

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ProteomicsDBi
81629
81630 [Q9HC29-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9HC29

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q9HC29

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in intestinal mucosa, mainly in Paneth cells and, at lower extent, in the glandular epithelium.1 Publication

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Up-regulated by muramyl-dipeptide and lipopolysaccharide.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000167207 Expressed in 126 organ(s), highest expression level in ectocervix

CleanEx database of gene expression profiles

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CleanExi
HS_NOD2

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9HC29 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9HC29 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA041985
HPA054494

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of a signaling complex consisting of ARHGEF2, NOD2 and RIPK2 (PubMed:21887730). Interacts (via CARD domain) with RIPK2 (via CARD domain) (PubMed:19592251, PubMed:21887730, PubMed:27812135). Interacts with ATG16L1 (PubMed:20637199, PubMed:23376921). Interacts (via NACHT domain) with CARD9 (PubMed:24960071). Interacts with ANKRD17 (via N-terminus) (PubMed:23711367). Interacts with HSPA1A; the interaction enhances NOD2 stability (PubMed:24790089). Interacts (via both CARD domains) with HSP90; the interaction enhances NOD2 stability (PubMed:23019338). Interacts (via CARD domain) with SOCS3; the interaction promotes NOD2 degradation (PubMed:23019338). Interacts (via CARD domain) with ERBBI2P; the interaction inhibits activation of NOD2 (PubMed:16203728). Interacts (via CARD domain) with CASP1; this interaction leads to IL1B processing. Also interacts with CASP4. Interacts with NLRP1; this interaction is enhanced in the presence of muramyl dipeptide (MDP) and leads to increased IL1B release (PubMed:18511561). Interacts with MAPKBP1; the interaction is enhanced in the presence of muramyl dipeptide (MDP) (PubMed:22700971). Interacts with INAVA; the interaction takes place upon PRR stimulation (PubMed:28436939). Interacts with ANKHD1, C10ORF67, CHMP5, DOCK7, ENTR1, KRT15, LDOC1, PPP1R12C, PPP2R3B, TRIM41 and VIM (PubMed:27812135).13 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
122077, 33 interactors

Database of interacting proteins

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DIPi
DIP-41998N

Protein interaction database and analysis system

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IntActi
Q9HC29, 23 interactors

Molecular INTeraction database

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MINTi
Q9HC29

STRING: functional protein association networks

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STRINGi
9606.ENSP00000300589

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
Q9HC29

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9HC29

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9HC29

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini26 – 122CARD 1PROSITE-ProRule annotationAdd BLAST97
Domaini126 – 218CARD 2PROSITE-ProRule annotationAdd BLAST93
Domaini293 – 618NACHTPROSITE-ProRule annotationAdd BLAST326
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati791 – 812LRR 1Add BLAST22
Repeati816 – 839LRR 2Add BLAST24
Repeati844 – 865LRR 3Add BLAST22
Repeati872 – 884LRR 4Add BLAST13
Repeati900 – 920LRR 5Add BLAST21
Repeati928 – 949LRR 6Add BLAST22
Repeati956 – 976LRR 7Add BLAST21
Repeati984 – 1005LRR 8Add BLAST22
Repeati1012 – 1032LRR 9Add BLAST21

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni241 – 274Required for CARD9 binding1 PublicationAdd BLAST34

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi63 – 77ATG16L1-binding motifAdd BLAST15

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The ATG16L1-binding motif mediates interaction with ATG16L1.1 Publication
Intramolecular interactions between the N-terminal moiety and the leucine-rich repeats (LRR) may be important for autoinhibition in the absence of activating signal. In the absence of LRRs, the protein becomes a constitutive activator of CASP1 cleavage and proIL1B processing.1 Publication

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG4308 Eukaryota
ENOG410ZBX3 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000160934

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000113814

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG050792

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9HC29

KEGG Orthology (KO)

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KOi
K10165

Identification of Orthologs from Complete Genome Data

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OMAi
LHCEQLQ

Database of Orthologous Groups

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OrthoDBi
651627at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9HC29

TreeFam database of animal gene trees

More...
TreeFami
TF352118

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.80.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001315 CARD
IPR011029 DEATH-like_dom_sf
IPR001611 Leu-rich_rpt
IPR032675 LRR_dom_sf
IPR007111 NACHT_NTPase
IPR027417 P-loop_NTPase

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00619 CARD, 1 hit
PF13516 LRR_6, 3 hits
PF05729 NACHT, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47986 SSF47986, 2 hits
SSF52540 SSF52540, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50209 CARD, 2 hits
PS51450 LRR, 4 hits
PS50837 NACHT, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative initiation. AlignAdd to basket

This entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

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
        10         20         30         40         50
MGEEGGSASH DEEERASVLL GHSPGCEMCS QEAFQAQRSQ LVELLVSGSL
60 70 80 90 100
EGFESVLDWL LSWEVLSWED YEGFHLLGQP LSHLARRLLD TVWNKGTWAC
110 120 130 140 150
QKLIAAAQEA QADSQSPKLH GCWDPHSLHP ARDLQSHRPA IVRRLHSHVE
160 170 180 190 200
NMLDLAWERG FVSQYECDEI RLPIFTPSQR ARRLLDLATV KANGLAAFLL
210 220 230 240 250
QHVQELPVPL ALPLEAATCK KYMAKLRTTV SAQSRFLSTY DGAETLCLED
260 270 280 290 300
IYTENVLEVW ADVGMAGPPQ KSPATLGLEE LFSTPGHLND DADTVLVVGE
310 320 330 340 350
AGSGKSTLLQ RLHLLWAAGQ DFQEFLFVFP FSCRQLQCMA KPLSVRTLLF
360 370 380 390 400
EHCCWPDVGQ EDIFQLLLDH PDRVLLTFDG FDEFKFRFTD RERHCSPTDP
410 420 430 440 450
TSVQTLLFNL LQGNLLKNAR KVVTSRPAAV SAFLRKYIRT EFNLKGFSEQ
460 470 480 490 500
GIELYLRKRH HEPGVADRLI RLLQETSALH GLCHLPVFSW MVSKCHQELL
510 520 530 540 550
LQEGGSPKTT TDMYLLILQH FLLHATPPDS ASQGLGPSLL RGRLPTLLHL
560 570 580 590 600
GRLALWGLGM CCYVFSAQQL QAAQVSPDDI SLGFLVRAKG VVPGSTAPLE
610 620 630 640 650
FLHITFQCFF AAFYLALSAD VPPALLRHLF NCGRPGNSPM ARLLPTMCIQ
660 670 680 690 700
ASEGKDSSVA ALLQKAEPHN LQITAAFLAG LLSREHWGLL AECQTSEKAL
710 720 730 740 750
LRRQACARWC LARSLRKHFH SIPPAAPGEA KSVHAMPGFI WLIRSLYEMQ
760 770 780 790 800
EERLARKAAR GLNVGHLKLT FCSVGPTECA ALAFVLQHLR RPVALQLDYN
810 820 830 840 850
SVGDIGVEQL LPCLGVCKAL YLRDNNISDR GICKLIECAL HCEQLQKLAL
860 870 880 890 900
FNNKLTDGCA HSMAKLLACR QNFLALRLGN NYITAAGAQV LAEGLRGNTS
910 920 930 940 950
LQFLGFWGNR VGDEGAQALA EALGDHQSLR WLSLVGNNIG SVGAQALALM
960 970 980 990 1000
LAKNVMLEEL CLEENHLQDE GVCSLAEGLK KNSSLKILKL SNNCITYLGA
1010 1020 1030 1040
EALLQALERN DTILEVWLRG NTFSLEEVDK LGCRDTRLLL
Note: Can activate NF-kappa-B. More abundant.
Length:1,040
Mass (Da):115,283
Last modified:March 1, 2001 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A286YF65A0A286YF65_HUMAN
Nucleotide-binding oligomerization ...
NOD2
793Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PK30E9PK30_HUMAN
Nucleotide-binding oligomerization ...
NOD2
146Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YF53H0YF53_HUMAN
Nucleotide-binding oligomerization ...
NOD2
169Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3QL80J3QL80_HUMAN
Nucleotide-binding oligomerization ...
NOD2
60Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PLF7E9PLF7_HUMAN
Nucleotide-binding oligomerization ...
NOD2
35Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03687181L → V. Corresponds to variant dbSNP:rs34936594EnsemblClinVar.1
Natural variantiVAR_073228113D → N in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895468EnsemblClinVar.1
Natural variantiVAR_012665140A → T in IBD1; also found in patients with ulcerative colitis; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs34684955EnsemblClinVar.1
Natural variantiVAR_012666157W → R in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895420EnsemblClinVar.1
Natural variantiVAR_012667189T → M1 PublicationCorresponds to variant dbSNP:rs61755182EnsemblClinVar.1
Natural variantiVAR_012668235R → C in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895422EnsemblClinVar.1
Natural variantiVAR_012669248L → R in IBD1; unknown pathological significance; no disruption of NOD2-CARD9 interaction. 2 PublicationsCorresponds to variant dbSNP:rs104895423EnsemblClinVar.1
Natural variantiVAR_012670268P → S3 PublicationsCorresponds to variant dbSNP:rs2066842EnsemblClinVar.1
Natural variantiVAR_012671289N → S2 PublicationsCorresponds to variant dbSNP:rs5743271EnsemblClinVar.1
Natural variantiVAR_012672291D → N in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895424EnsemblClinVar.1
Natural variantiVAR_012673294T → S in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895425EnsemblClinVar.1
Natural variantiVAR_012674301A → V in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895426EnsemblClinVar.1
Natural variantiVAR_012675311R → W in IBD1; also found in patients with ulcerative colitis; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs104895427EnsemblClinVar.1
Natural variantiVAR_012676334R → Q in BLAUS; somatic mosaicism in 4.9% to 11% of peripheral blood cells; hyperactive; abolishes interaction with LDOC1, ANKHD1, PPP2R3B, ENTR1 and TRIM41; decreases interaction with RIPK2 and PPP1R12C; no effect on interaction with CHMP5. 6 PublicationsCorresponds to variant dbSNP:rs104895461EnsemblClinVar.1
Natural variantiVAR_012677334R → W in BLAUS; no disruption of NOD2-CARD9 interaction; hyperactive. 7 PublicationsCorresponds to variant dbSNP:rs104895462EnsemblClinVar.1
Natural variantiVAR_012678348L → V in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895428EnsemblClinVar.1
Natural variantiVAR_012679352H → R in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs5743272EnsemblClinVar.1
Natural variantiVAR_073229357D → A in IBD1; unknown pathological significance; no disruption of NOD2-CARD9 interaction. 2 PublicationsCorresponds to variant dbSNP:rs104895469EnsemblClinVar.1
Natural variantiVAR_073230363I → F in IBD1; unknown pathological significance; no disruption of NOD2-CARD9 interaction. 2 PublicationsCorresponds to variant dbSNP:rs104895470EnsemblClinVar.1
Natural variantiVAR_012680373R → C in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs145293873EnsemblClinVar.1
Natural variantiVAR_023822382D → E in BLAUS; hyperactive. 2 PublicationsCorresponds to variant dbSNP:rs104895476EnsemblClinVar.1
Natural variantiVAR_073231383E → G in BLAUS; unknown pathological significance; hyperactive. 2 PublicationsCorresponds to variant dbSNP:rs104895493EnsemblClinVar.1
Natural variantiVAR_023823383E → K in BLAUS; hyperactive. 3 PublicationsCorresponds to variant dbSNP:rs104895477EnsemblClinVar.1
Natural variantiVAR_073232391R → C1 PublicationCorresponds to variant dbSNP:rs104895481EnsemblClinVar.1
Natural variantiVAR_012681414N → S in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895429EnsemblClinVar.1
Natural variantiVAR_012682431S → L in IBD1; unknown pathological significance; no disruption of NOD2-CARD9 interaction. 2 PublicationsCorresponds to variant dbSNP:rs104895431EnsemblClinVar.1
Natural variantiVAR_012683432A → V in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs2076754Ensembl.1
Natural variantiVAR_012684441E → K in IBD1; unknown pathological significance; no disruption of NOD2-CARD9 interaction. 2 PublicationsCorresponds to variant dbSNP:rs104895432EnsemblClinVar.1
Natural variantiVAR_073233463P → A Polymorphism; no disruption of NOD2-CARD9 interaction. 2 PublicationsCorresponds to variant dbSNP:rs104895482EnsemblClinVar.1
Natural variantiVAR_073234464G → W Polymorphism; hyperactive. 1 PublicationCorresponds to variant dbSNP:rs104895492EnsemblClinVar.1
Natural variantiVAR_012685469L → F in BLAUS; hyperactive. 2 PublicationsCorresponds to variant dbSNP:rs104895460EnsemblClinVar.1
Natural variantiVAR_036872471R → C Polymorphism; does not affect activity. 1 PublicationCorresponds to variant dbSNP:rs1078327EnsemblClinVar.1
Natural variantiVAR_073235481G → D in BLAUS; atypical form with cardiac infiltration; sporadic case; unknown pathological significance; hyperactive. 2 PublicationsCorresponds to variant dbSNP:rs104895494EnsemblClinVar.1
Natural variantiVAR_073236490W → L in BLAUS; unknown pathological significance; hyperactive. 2 PublicationsCorresponds to variant dbSNP:rs104895480EnsemblClinVar.1
Natural variantiVAR_073237495C → Y in BLAUS; unknown pathological significance; hyperactive. 3 PublicationsCorresponds to variant dbSNP:rs104895478EnsemblClinVar.1
Natural variantiVAR_023824496H → L in BLAUS; hyperactive. 3 PublicationsCorresponds to variant dbSNP:rs104895472EnsemblClinVar.1
Natural variantiVAR_073180507P → S in BLAUS. 1 Publication1
Natural variantiVAR_073238513M → T in BLAUS; hyperactive. 3 PublicationsCorresponds to variant dbSNP:rs104895473EnsemblClinVar.1
Natural variantiVAR_073239550L → V in IBD1; unknown pathological significance; no disruption of NOD2-CARD9 interaction. 2 PublicationsCorresponds to variant dbSNP:rs104895471EnsemblClinVar.1
Natural variantiVAR_073240587R → C in BLAUS; unknown pathological significance; not hyperactive. 2 PublicationsCorresponds to variant dbSNP:rs104895479EnsemblClinVar.1
Natural variantiVAR_065228605T → N in BLAUS; hyperactive. 2 Publications1
Natural variantiVAR_073241605T → P in BLAUS; hyperactive. 3 PublicationsCorresponds to variant dbSNP:rs104895474EnsemblClinVar.1
Natural variantiVAR_012686612A → T in BLAUS and IBD1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs104895438EnsemblClinVar.1
Natural variantiVAR_012687612A → V in IBD1; unknown pathological significance; no disruption of NOD2-CARD9 interaction. 2 PublicationsCorresponds to variant dbSNP:rs104895439EnsemblClinVar.1
Natural variantiVAR_073242670N → K in BLAUS; hyperactive. 3 PublicationsCorresponds to variant dbSNP:rs104895475EnsemblClinVar.1
Natural variantiVAR_012688684R → W in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs5743276EnsemblClinVar.1
Natural variantiVAR_012689702R → W in IBD1 and YAOS; associated with disease susceptibility; no disruption of NOD2-CARD9 interaction; decreases half-life of protein; abolishes interaction with ANKHD1, ENTR1 and TRIM41; increases interaction with RIPK2 and PPP2R3B; decreases interaction with LDOC1 and PPP1R12C; no effect on interaction with CHMP5. 6 PublicationsCorresponds to variant dbSNP:rs2066844EnsemblClinVar.1
Natural variantiVAR_012690703R → C in IBD1; also found in patients with ulcerative colitis; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs5743277EnsemblClinVar.1
Natural variantiVAR_012691713R → C in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895440EnsemblClinVar.1
Natural variantiVAR_073243713R → H in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895483EnsemblClinVar.1
Natural variantiVAR_012692725A → G in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs5743278EnsemblClinVar.1
Natural variantiVAR_012693755A → V in IBD1; also found in patients with ulcerative colitis; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs61747625EnsemblClinVar.1
Natural variantiVAR_012694758A → V in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895442EnsemblClinVar.1
Natural variantiVAR_073244760R → C in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs3813758Ensembl.1
Natural variantiVAR_012695778E → K in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895443EnsemblClinVar.1
Natural variantiVAR_024402790R → Q. Corresponds to variant dbSNP:rs5743279EnsemblClinVar.1
Natural variantiVAR_073245790R → W in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs62029861Ensembl.1
Natural variantiVAR_073246791R → W1 PublicationCorresponds to variant dbSNP:rs104895484EnsemblClinVar.1
Natural variantiVAR_012696793V → M in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895444EnsemblClinVar.1
Natural variantiVAR_073247825N → K1 PublicationCorresponds to variant dbSNP:rs104895485EnsemblClinVar.1
Natural variantiVAR_012697843E → K in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895445EnsemblClinVar.1
Natural variantiVAR_073248849A → V1 PublicationCorresponds to variant dbSNP:rs104895486EnsemblClinVar.1
Natural variantiVAR_073249852N → S in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895467EnsemblClinVar.1
Natural variantiVAR_012698853N → S in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895446EnsemblClinVar.1
Natural variantiVAR_012699863M → V in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895447EnsemblClinVar.1
Natural variantiVAR_012700885A → T in IBD1; unknown pathological significance. 1 Publication1
Natural variantiVAR_012701908G → R in IBD1 and YAOS; associated with disease susceptibility; decreases half-life of protein; abolishes interaction with ANKHD1, ENTR1 and TRIM41; decreases interaction with RIPK2 and PPP1R12C; no effect on interaction with CHMP5, LDOC1 and PPP2R3B. 6 PublicationsCorresponds to variant dbSNP:rs2066845EnsemblClinVar.1
Natural variantiVAR_012702918A → D1 PublicationCorresponds to variant dbSNP:rs104895452EnsemblClinVar.1
Natural variantiVAR_012703924G → D in IBD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs104895453EnsemblClinVar.1
Natural variantiVAR_012704955V → I1 PublicationCorresponds to variant dbSNP:rs5743291EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0186891 – 27Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST27
Alternative sequenceiVSP_046567216 – 224AATCKKYMA → DERTEAQKG in isoform 3. 1 Publication