This gene is a member of the Nod1/Apaf-1 family and encodes a protein with two caspase recruitment (CARD) domains and six leucine-rich repeats (LRRs). The protein is primarily expressed in the peripheral blood leukocytes. It plays a role in the immune response to intracellular bacterial lipopolysaccharides (LPS) by recognizing the muramyl dipeptide (MDP) derived from them and a... See more...

Aliases for NOD2 Gene

Aliases for NOD2 Gene

  • Nucleotide Binding Oligomerization Domain Containing 2 2 3 5
  • Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And CARD Domain Containing 2 2 3
  • Nucleotide-Binding Oligomerization Domain-Containing Protein 2 3 4
  • Caspase Recruitment Domain-Containing Protein 15 3 4
  • Caspase Recruitment Domain Family, Member 15 2 3
  • NLR Family, CARD Domain Containing 2 2 3
  • Inflammatory Bowel Disease Protein 1 3 4
  • NOD-Like Receptor C2 2 3
  • CLR16.3 2 3
  • PSORAS1 2 3
  • CARD15 3 4
  • NLRC2 2 3
  • BLAU 2 3
  • IBD1 3 4
  • CD 2 3
  • Nucleotide-Binding Oligomerization Domain 2 3
  • Caspase Recruitment Domain Protein 15 3
  • BLAUS 3
  • NOD2B 3
  • ACUG 3
  • YAOS 3
  • NOD2 5

External Ids for NOD2 Gene

Previous HGNC Symbols for NOD2 Gene

  • IBD1
  • CARD15

Previous GeneCards Identifiers for NOD2 Gene

  • GC16P049289
  • GC16P050731
  • GC16P036618
  • GC16P050729

Summaries for NOD2 Gene

Entrez Gene Summary for NOD2 Gene

  • This gene is a member of the Nod1/Apaf-1 family and encodes a protein with two caspase recruitment (CARD) domains and six leucine-rich repeats (LRRs). The protein is primarily expressed in the peripheral blood leukocytes. It plays a role in the immune response to intracellular bacterial lipopolysaccharides (LPS) by recognizing the muramyl dipeptide (MDP) derived from them and activating the NFKB protein. Mutations in this gene have been associated with Crohn disease and Blau syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

GeneCards Summary for NOD2 Gene

NOD2 (Nucleotide Binding Oligomerization Domain Containing 2) is a Protein Coding gene. Diseases associated with NOD2 include Blau Syndrome and Inflammatory Bowel Disease 1. Among its related pathways are Activated TLR4 signalling and Cytokine Signaling in Immune system. Gene Ontology (GO) annotations related to this gene include protein kinase binding and peptidoglycan binding. An important paralog of this gene is NOD1.

UniProtKB/Swiss-Prot Summary for NOD2 Gene

  • 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).

Gene Wiki entry for NOD2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NOD2 Gene

Genomics for NOD2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NOD2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J050693 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 330.4 +3.2 3245 7.7 SP1 ZNF207 IKZF1 MYC ZMYM3 CEBPA ZNF223 NFIC YY1 BCL11A NOD2 SNX20 HNRNPA1P48 CYLD ADCY7 NONHSAG019425.2 piR-51401
GH16J050678 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 59.4 -11.0 -10983 8.8 BCLAF1 SP1 ZNF207 POLR2A BCL11A CTCF ZNF592 SIN3A TRIM22 NR2C1 SNX20 NOD2 CYLD BRD7 ADCY7
GH16J050740 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 38.3 +50.9 50883 7.7 SP1 ZNF207 ZNF654 SIX5 ZNF580 ZMYM3 KLF9 POLR2A NFIC ZIC2 CYLD ENSG00000261644 CYLD-AS1 NOD2 SNX20 BRD7 TENT4B ADCY7 MIR3181 HSALNG0111362
GH16J050718 Promoter/Enhancer 1.2 Ensembl ENCODE dbSUPER 13.3 +26.1 26050 1.5 ZNF217 FOXA2 ZNF511 SAP130 ETV4 MIER3 RARA GABPB1 THRB DRAP1 NOD2 SNX20 TENT4B ENSG00000270120 NONHSAG019426.2 CYLD
GH16J050702 Enhancer 0.9 FANTOM5 Ensembl ENCODE dbSUPER 16.2 +9.7 9713 2.6 MYC MAX LARP7 TRIM28 NOD2 CYLD SNX20 ADCY7 piR-51401 NONHSAG019425.2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NOD2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NOD2

Top Transcription factor binding sites by QIAGEN in the NOD2 gene promoter:
  • AML1a

Genomic Locations for NOD2 Gene

Latest Assembly
chr16:50,693,587-50,734,041
(GRCh38/hg38)
Size:
40,455 bases
Orientation:
Plus strand

Previous Assembly
chr16:50,727,517-50,766,986
(GRCh37/hg19 by Entrez Gene)
Size:
39,470 bases
Orientation:
Plus strand

chr16:50,727,514-50,766,988
(GRCh37/hg19 by Ensembl)
Size:
39,475 bases
Orientation:
Plus strand

Genomic View for NOD2 Gene

Genes around NOD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NOD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NOD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NOD2 Gene

Proteins for NOD2 Gene

  • Protein details for NOD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HC29-NOD2_HUMAN
    Recommended name:
    Nucleotide-binding oligomerization domain-containing protein 2
    Protein Accession:
    Q9HC29
    Secondary Accessions:
    • E2JEQ6
    • Q96RH5
    • Q96RH6
    • Q96RH8

    Protein attributes for NOD2 Gene

    Size:
    1040 amino acids
    Molecular mass:
    115283 Da
    Quaternary structure:
    • 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). Interacts with NLRP12; this interaction promotes degradation of NOD2 through the ubiquitin-proteasome pathway (PubMed:30559449).
    Miscellaneous:
    • [Isoform 1]: Can activate NF-kappa-B. More abundant.
    • [Isoform 2]: Can activate NF-kappa-B.
    • [Isoform 3]: Can activate NF-kappa-B.

    Alternative splice isoforms for NOD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NOD2 Gene

Post-translational modifications for NOD2 Gene

  • Polyubiquitinated following MDP stimulation, leading to proteasome-mediated degradation (PubMed:23019338).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NOD2 Gene

Domains & Families for NOD2 Gene

Gene Families for NOD2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Predicted intracellular proteins

Protein Domains for NOD2 Gene

Suggested Antigen Peptide Sequences for NOD2 Gene

GenScript: Design optimal peptide antigens:
  • Caspase recruitment domain-containing protein 15 (A3FA72_HUMAN)
  • CARD15 (A7J384_HUMAN)
  • CARD15 (A7KZQ8_HUMAN)
  • CARD15 (A7KZQ9_HUMAN)
  • CARD15 (A7KZR0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9HC29

UniProtKB/Swiss-Prot:

NOD2_HUMAN :
  • The ATG16L1-binding motif mediates interaction with ATG16L1.
Domain:
  • The ATG16L1-binding motif mediates interaction with ATG16L1.
  • 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.
genes like me logo Genes that share domains with NOD2: view

Function for NOD2 Gene

Molecular function for NOD2 Gene

UniProtKB/Swiss-Prot Function:
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).
UniProtKB/Swiss-Prot Induction:
Up-regulated by muramyl-dipeptide and lipopolysaccharide.

Phenotypes From GWAS Catalog for NOD2 Gene

Gene Ontology (GO) - Molecular Function for NOD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003779 actin binding IDA 24790089
GO:0005515 protein binding IEA,IPI 11472070
GO:0005524 ATP binding IEA --
GO:0019899 enzyme binding IPI 15753091
genes like me logo Genes that share ontologies with NOD2: view
genes like me logo Genes that share phenotypes with NOD2: view

Human Phenotype Ontology for NOD2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NOD2 Gene

MGI Knock Outs for NOD2:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NOD2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NOD2 Gene

Localization for NOD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NOD2 Gene

Cytoplasm. Membrane. Mitochondrion. Basolateral cell membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NOD2 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 5
mitochondrion 4
golgi apparatus 4
extracellular 3
nucleus 3
endosome 3
endoplasmic reticulum 2
lysosome 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NOD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 15967716
GO:0005739 mitochondrion IEA --
GO:0005794 Golgi apparatus IDA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IDA 21887730
genes like me logo Genes that share ontologies with NOD2: view

Pathways & Interactions for NOD2 Gene

genes like me logo Genes that share pathways with NOD2: view

SIGNOR curated interactions for NOD2 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for NOD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity TAS --
GO:0002221 pattern recognition receptor signaling pathway IDA 31649195
GO:0002227 innate immune response in mucosa IEA --
GO:0002253 activation of immune response IEA --
GO:0002367 cytokine production involved in immune response IMP 16260731
genes like me logo Genes that share ontologies with NOD2: view

Drugs & Compounds for NOD2 Gene

(14) Drugs for NOD2 Gene - From: DrugBank, PharmGKB, DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mifamurtide Approved, Experimental Pharma Target, ligand 8
Tacrolimus Approved, Investigational Pharma 1328
muramyl dipeptide Pharma Agonist 0

(5) Additional Compounds for NOD2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NOD2: view

Transcripts for NOD2 Gene

mRNA/cDNA for NOD2 Gene

3 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NOD2

Alternative Splicing Database (ASD) splice patterns (SP) for NOD2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13
SP1: - - -
SP2: -
SP3: - - -
SP4: - - -
SP5: - - - -
SP6: - - -
SP7:
SP8: - - - - -
SP9: - - - -
SP10: - - -

Relevant External Links for NOD2 Gene

GeneLoc Exon Structure for
NOD2

Expression for NOD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NOD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NOD2 Gene

This gene is overexpressed in Whole Blood (x13.2), Skin - Sun Exposed (Lower leg) (x4.7), Esophagus - Mucosa (x4.2), and Skin - Not Sun Exposed (Suprapubic) (x4.1).

Protein differential expression in normal tissues from HIPED for NOD2 Gene

This gene is overexpressed in Adipocyte (65.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NOD2 Gene



Protein tissue co-expression partners for NOD2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NOD2

SOURCE GeneReport for Unigene cluster for NOD2 Gene:

Hs.592072

mRNA Expression by UniProt/SwissProt for NOD2 Gene:

Q9HC29-NOD2_HUMAN
Tissue specificity: Expressed in intestinal mucosa, mainly in Paneth cells and, at lower extent, in the glandular epithelium.

Evidence on tissue expression from TISSUES for NOD2 Gene

  • Blood(4.6)
  • Intestine(3.1)
  • Lymph node(2.8)
  • Spleen(2.7)
  • Bone marrow(2.6)
  • Skin(2.5)
  • Lung(2.4)
  • Nervous system(2)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NOD2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • penis
  • testicle
  • vagina
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with NOD2: view

Primer products for research

Orthologs for NOD2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NOD2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NOD2 29 30
  • 99.23 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NOD2 29 30
  • 85.39 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NOD2 29 30
  • 83.55 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Nod2 29 16 30
  • 80.75 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Nod2 29
  • 80.69 (n)
Oppossum
(Monodelphis domestica)
Mammalia NOD2 30
  • 68 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia NOD2 30
  • 63 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii nod2 29 30
  • 54.42 (n)
OneToOne
Species where no ortholog for NOD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for NOD2 Gene

ENSEMBL:
Gene Tree for NOD2 (if available)
TreeFam:
Gene Tree for NOD2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NOD2: view image
Alliance of Genome Resources:
Additional Orthologs for NOD2

Paralogs for NOD2 Gene

(3) SIMAP similar genes for NOD2 Gene using alignment to 17 proteins:

  • NOD2_HUMAN
  • A3FA72_HUMAN
  • A7KZQ8_HUMAN
  • A7KZQ9_HUMAN
  • A7KZR0_HUMAN
  • B5A7D5_HUMAN
  • B5B2Z4_HUMAN
  • B5B2Z5_HUMAN
  • B5B2Z6_HUMAN
  • D9N2T7_HUMAN
  • E9PK30_HUMAN
  • E9PLF7_HUMAN
  • H0YF53_HUMAN
  • J3QL80_HUMAN
  • Q7Z595_HUMAN
  • Q7Z596_HUMAN
  • Q7Z597_HUMAN
genes like me logo Genes that share paralogs with NOD2: view

Variants for NOD2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NOD2 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
1000144 Uncertain Significance: Blau syndrome; Inflammatory bowel disease 1 50,711,856(+) A/C
NM_001370466.1(NOD2):c.1864A>C (p.Ile622Leu)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1001128 Uncertain Significance: Blau syndrome; Inflammatory bowel disease 1 50,699,794(+) C/T
NM_001370466.1(NOD2):c.299C>T (p.Ser100Leu)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1004616 Uncertain Significance: Blau syndrome; Inflammatory bowel disease 1 50,712,057(+) C/T
NM_001370466.1(NOD2):c.2065C>T (p.Arg689Cys)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1006032 Uncertain Significance: Blau syndrome; Inflammatory bowel disease 1 50,711,757(+) G/A
NM_001370466.1(NOD2):c.1765G>A (p.Ala589Thr)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1008353 Uncertain Significance: Blau syndrome; Inflammatory bowel disease 1 50,712,290(+) G/A
NM_001370466.1(NOD2):c.2298G>A (p.Val766=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NOD2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for NOD2 Gene

Variant ID Type Subtype PubMed ID
esv3638608 CNV gain 21293372

Variation tolerance for NOD2 Gene

Residual Variation Intolerance Score: 97.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.63; 65.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NOD2 Gene

Human Gene Mutation Database (HGMD)
NOD2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NOD2
Leiden Open Variation Database (LOVD)
NOD2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NOD2 Gene

Disorders for NOD2 Gene

MalaCards: The human disease database

(101) MalaCards diseases for NOD2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
blau syndrome
  • blaus
inflammatory bowel disease 1
  • ibd1
yao syndrome
  • yaos
crohn's disease
  • crohn disease
behcet syndrome
  • behcet disease; bd
- elite association - COSMIC cancer census association via MalaCards
Search NOD2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NOD2_HUMAN
  • Blau syndrome (BLAUS) [MIM:186580]: An 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. {ECO:0000269 PubMed:11528384, ECO:0000269 PubMed:15459013, ECO:0000269 PubMed:15812565, ECO:0000269 PubMed:19116920, ECO:0000269 PubMed:19169908, ECO:0000269 PubMed:19359344, ECO:0000269 PubMed:19479837, ECO:0000269 PubMed:20199415, ECO:0000269 PubMed:24960071, ECO:0000269 PubMed:25093298, ECO:0000269 PubMed:25692065, ECO:0000269 PubMed:25724124, ECO:0000269 PubMed:27812135}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Inflammatory bowel disease 1 (IBD1) [MIM:266600]: A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. {ECO:0000269 PubMed:11385576, ECO:0000269 PubMed:15024686, ECO:0000269 PubMed:16485124, ECO:0000269 PubMed:24790089, ECO:0000269 PubMed:24960071, ECO:0000269 PubMed:27812135}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
  • Yao syndrome (YAOS) [MIM:617321]: An autoinflammatory disease characterized by periodic fever, dermatitis, polyarthritis, leg swelling, and gastrointestinal and sicca-like symptoms. YAOS is a complex disease with multifactorial inheritance. {ECO:0000269 PubMed:21914217, ECO:0000269 PubMed:26070941}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

Additional Disease Information for NOD2

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Publications for NOD2 Gene

  1. Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis. (PMID: 19116920) Okafuji I … Nakahata T (Arthritis and rheumatism 2009) 3 4 22 40
  2. Variants of CARD15, TNFA and PTPN22 and susceptibility to Crohn's disease in the Czech population: high frequency of the CARD15 1007fs. (PMID: 18489434) Hradsky O … Cinek O (Tissue antigens 2008) 3 22 40 72
  3. Eight novel CARD15 variants detected by DNA sequence analysis of the CARD15 gene in 111 patients with inflammatory bowel disease. (PMID: 16485124) Schnitzler F … Lohse P (Immunogenetics 2006) 3 4 22 40
  4. Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families. (PMID: 15024686) Tukel T … Desnick RJ (American journal of human genetics 2004) 3 4 22 72
  5. Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators. (PMID: 25093298) Parkhouse R … Monie TP (FEBS letters 2014) 3 4 72

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