NOD2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | NOD2 |
| Official Name | nucleotide binding oligomerization domain containing 2 [Source:HGNC Symbol;Acc:HGNC:5331] |
| Ensembl ID | ENSG00000167207 |
| Bio databases IDs | |
| Aliases | nucleotide binding oligomerization domain containing 2, nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2, NOD-like receptor C2, NLR family, CARD domain containing 2 |
| Synonyms | ACUG, BLAU, BLAUS, CARD15, CD, CLR16.3, F830032C23Rik, IBD1, NLRC2, NOD2B, nucleotide-binding oligomerization domain containing 2, PSORAS1, YAOS |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NOD2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- NLRC4 helical domain HD2
- NOD2 winged helix domain
- Hsp70 protein binding
- ADP binding
- heat shock protein binding
- NACHT domain
- nucleotide-binding domain
- Caspase recruitment domain
- leucine-rich repeat
- actin binding
- nucleic acid binding domain
- peptidoglycan binding
- P-loop containing Nucleoside Triphosphate Hydrolases
- CARD domain binding
- protein phosphatase 1 regulatory subunit 42
- signaling receptor activity
- protein kinase binding
- enzyme binding
- ubiquitin binding
- protein binding
- nucleotide binding oligomerization domain
- binding protein
- Leucine rich repeat, ribonuclease inhibitor type
- NDB domain
- Death Domain Superfamily of protein-protein interaction domains
Pathways
Biological processes and signaling networks where the NOD2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- ulcerative colitis
- Crohn disease
- colitis
- metastasis
- neoplasia
- lung cancer
- weight loss
- hepatitis
- infection
- asthma
role in cell
- proliferation
- expression in
- apoptosis
- phosphorylation in
- migration
- polyubiquitination in
- autophagy by
- activation in
- activation
- quantity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cytoskeleton
- cell surface
- intracellular space
- perinuclear region
- Plasma Membrane
- vesicles
- Golgi Apparatus
- intercellular junctions
- granules
- cytosol
- basolateral membrane
- mitochondrial outer membrane
- phagosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NOD2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of appetite
- response to muramyl dipeptide
- detection of biotic stimulus
- JNK cascade
- positive regulation of NF-kappaB transcription factor activity
- positive regulation of cytokine production involved in inflammatory response
- positive regulation of type 2 immune response
- negative regulation of T cell mediated immunity
- positive regulation of B cell activation
- negative regulation of macrophage cytokine production
- positive regulation of tumor necrosis factor production
- establishment of localization in cell
- negative regulation of macrophage apoptotic process
- negative regulation of interferon-gamma production
- positive regulation of epithelial cell proliferation
- negative regulation of tumor necrosis factor production
- intracellular signal transduction
- stress-activated MAPK cascade
- adaptive immune response
- regulation of neutrophil chemotaxis
- response to nutrient
- defense response to bacterium
- positive regulation of cytokine production involved in immune response
- positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria
- positive regulation of interleukin-8 production
- positive regulation of nitric-oxide synthase biosynthetic process
- nucleotide-binding oligomerization domain containing 2 signaling pathway
- positive regulation of humoral immune response mediated by circulating immunoglobulin
- positive regulation of dendritic cell antigen processing and presentation
- regulation of inflammatory response
- negative regulation of toll-like receptor 2 signaling pathway
- detection of bacterium
- positive regulation of phagocytosis
- positive regulation of interleukin-6 production
- cellular response to organic cyclic compound
- response to endoplasmic reticulum stress
- positive regulation of stress-activated MAPK cascade
- positive regulation of monocyte chemotactic protein-1 production
- toll-like receptor 2 signaling pathway
- positive regulation of I-kappaB kinase/NF-kappaB cascade
- positive regulation of transcription from RNA polymerase II promoter
- pattern recognition receptor signaling pathway
- positive regulation of Notch signaling pathway
- positive regulation of macrophage cytokine production
- positive regulation of dendritic cell cytokine production
- negative regulation of interleukin-2 production
- response to exogenous dsRNA
- biosynthetic process of antibacterial peptides active against Gram-positive bacteria
- positive regulation of interleukin-17 production
- negative regulation of interleukin-18 production
- positive regulation of peptidyl-tyrosine phosphorylation
- positive regulation of gamma-delta T cell activation
- positive regulation of MAPK cascade
- defense response
- ERK1 and ERK2 cascade
- negative regulation of inflammatory response to antigenic stimulus
- positive regulation of interleukin-12 production
- innate immune response in mucosa
- cellular response to lipopolysaccharide
- homeostasis of number of cells in a free-living population
- positive regulation of JNK cascade
- innate immune response
- temperature homeostasis
- positive regulation of ERK1 and ERK2 cascade
- detection of muramyl dipeptide
- phagocytosis
- maintenance of gastrointestinal epithelium
- cellular response to peptidoglycan
- cellular response to muramyl dipeptide
- negative regulation of interleukin-12 production
- positive regulation of interleukin-10 production
- positive regulation of interleukin-1 beta production
Cellular Component
Where in the cell the gene product is active
- phagocytic vesicle
- Golgi apparatus
- plasma membrane
- cell surface
- cytoskeleton
- cytoplasm
- mitochondrion
- vesicle
- cytosol
- macromolecular complex
- basolateral plasma membrane
- extrinsic to plasma membrane
Molecular Function
What the gene product does at the molecular level
- peptidoglycan binding
- protein kinase binding
- ADP binding
- ATP binding
- protein binding
- ubiquitin binding
- actin binding
- Hsp90 protein binding
- CARD domain binding
- muramyl dipeptide binding
- enzyme binding
- Hsp70 protein binding