Version: 8.0.0Date: Tue Jan 28 2025
Gene
NOD2
- Species
- Homo sapiens
- Symbol
- NOD2
- Name
- nucleotide binding oligomerization domain containing 2
- Synonyms
- ACUG
- BLAU
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including CARD domain binding activity; heat shock protein binding activity; and muramyl dipeptide binding activity. Involved in several processes, including positive regulation of immune response; positive regulation of macromolecule metabolic process; and response to bacterium. Acts upstream of or within several processes, including detection of muramyl dipeptide; positive regulation of intracellular signal transduction; and regulation of gene expression. Located in several cellular components, including Golgi apparatus; basolateral plasma membrane; and phagocytic vesicle. Part of protein-containing complex. Is active in cytosol and plasma membrane. Is extrinsic component of plasma membrane. Implicated in several diseases, including Blau syndrome; autoimmune disease (multiple); familial Mediterranean fever; intestinal disease (multiple); and lung disease (multiple). Biomarker of allergic rhinitis and systemic lupus erythematosus.
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR24113
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr16:50693588...50733077 + (39.49 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.