NOD2 Gene

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NOD2 Gene

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NOD2

Pathway Diagram

flowchart TD NOD2["NOD2"] Crohn_s_disease["Crohn's disease"] NOD2 ==>|"causes"| Crohn_s_disease RIPK2["RIPK2"] NOD2 -->|"interacts with"| RIPK2 Inflammatory_Response["Inflammatory Response"] NOD2 -->|"involved_in"| Inflammatory_Response Inflammation["Inflammation"] NOD2 -->|"activates"| Inflammation Als["Als"] NOD2 -->|"activates"| Als Apoptosis["Apoptosis"] NOD2 -->|"activates"| Apoptosis Immune_Response["Immune Response"] NOD2 -->|"activates"| Immune_Response Mapk["Mapk"] NOD2 -->|"activates"| Mapk PYCARD["PYCARD"] PYCARD -->|"associated with"| NOD2 TNF["TNF"] TNF -->|"associated with"| NOD2 style NOD2 fill:#1a237e,stroke:#4fc3f7,color:#4fc3f7 style Crohn_s_disease fill:#4a0000,stroke:#ef5350,color:#ef5350 style RIPK2 fill:#1a237e,stroke:#4fc3f7,color:#4fc3f7 style Inflammatory_Response fill:#e65100,stroke:#ff8a65,color:#ff8a65 style Inflammation fill:#4a0000,stroke:#ef5350,color:#ef5350 style Als fill:#4a0000,stroke:#ef5350,color:#ef5350 style Apoptosis fill:#4a148c,stroke:#ce93d8,color:#ce93d8 style Immune_Response fill:#4a148c,stroke:#ce93d8,color:#ce93d8 style Mapk fill:#4a148c,stroke:#ce93d8,color:#ce93d8 style PYCARD fill:#1a237e,stroke:#4fc3f7,color:#4fc3f7 style TNF fill:#1a237e,stroke:#4fc3f7,color:#4fc3f7

Knowledge graph relationships for NOD2 (306 total edges in KG)

Introduction

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NOD2

Pathway Diagram

Mermaid diagram (expand to render)

Knowledge graph relationships for NOD2 (306 total edges in KG)

Introduction

Nod2 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

<div class="infobox infobox-gene"> [@strober2019]
<div class="infobox-header">NOD2</div> [@matsui2021]
<div class="infobox-row"><strong>Full Name</strong></div> [@chen2020]
<div class="infobox-row">Nucleotide-Binding Oligomerization Domain-Containing Protein 2</div> [@liu2018]
<div class="infobox-row"><strong>Symbol</strong></div> [@kane2019]
<div class="infobox-row">NOD2</div> [@mowat2021]
<div class="infobox-row"><strong>Chromosomal Location</strong></div> [@pott2022]
<div class="infobox-row">16q12.1</div>
<div class="infobox-row"><strong>NCBI Gene ID</strong></div>
<div class="infobox-row">64127</div>
<div class="infobox-row"><strong>UniProt ID</strong></div>
<div class="infobox-row">Q9HC29</div>
<div class="infobox-row"><strong>Ensembl ID</strong></div>
<div class="infobox-row">ENSG00000105904</div>
<div class="infobox-row"><strong>Associated Diseases</strong></div>
<div class="infobox-row">Crohn's Disease, Blau Syndrome, Early-Onset Sarcoidosis, Inflammatory Bowel Disease, Neuroinflammation</div>
</div>

Overview

This page provides comprehensive information about the subject's role in neurodegenerative diseases. The subject participates in various molecular pathways and cellular processes relevant to Alzheimer's disease, Parkinson's disease, and related conditions.

Function

NOD2 encodes nucleotide-binding oligomerization domain-containing protein 2, an intracellular pattern recognition receptor that senses bacterial muramyl dipeptide (MDP). Unlike membrane-bound Toll-like receptors, NOD2 is located in the cytoplasm of cells including macrophages, dendritic cells, and intestinal epithelial cells.

Key functions include:

Innate immune sensing: Recognizes bacterial components and initiates inflammatory responses
[NF-κB](/entities/nf-kb) activation: Triggers pro-inflammatory signaling cascades
[Autophagy](/entities/autophagy) induction: Regulates antimicrobial autophagy (xenophagy)
Mucosal defense: Critical for intestinal barrier function
Anti-microbial peptides: Induces alpha-defensin production in Paneth cells

Disease Associations

Crohn's Disease

NOD2 was the first Crohn's disease susceptibility gene identified:

Three common variants (R702W, G908R, L1007fs) increase disease risk 2-4 fold
Associated with ileal disease and stricturing phenotype
Loss-of-function mutations impair bacterial sensing
Altered autophagy and bacterial clearance

Blau Syndrome

Autosomal dominant NOD2 mutations cause Blau syndrome:

Early-onset granulomatous arthritis
Dermatitis
Uveitis
Granulomatous inflammation in multiple organs

Neuroinflammation

NOD2 is expressed in the brain and may contribute to neurodegeneration:

Alzheimer's Disease: NOD2 variants may influence AD risk; roles in microglial activation
Parkinson's Disease: Altered NOD2 signaling in PD brains
Multiple Sclerosis: NOD2 implicated in MS pathogenesis

Expression

NOD2 is expressed in:

Immune cells: Macrophages, monocytes, dendritic cells
Intestine: Epithelial cells, Paneth cells
Liver: Hepatocytes, Kupffer cells
Brain: [Microglia](/cell-types/microglia-neuroinflammation), [astrocytes](/entities/astrocytes), [neurons](/entities/neurons) (lower levels)

In the brain, NOD2 is primarily expressed in microglia, the resident immune cells of the CNS.

Key Publications

[Hugot et al., NOD2 mutations in Crohn's disease (2001)](https://doi.org/10.1038/351011a0)

[Ogura et al., NOD2 structure and function (2001)](https://doi.org/10.1016/S0092-8674(01)00590-7)

[Travassos et al., NOD2 and autophagy (2010)](https://doi.org/10.1038/ncb2113)

[Liu et al., NOD2 in Alzheimer's disease (2018)](https://doi.org/10.1186/s40478-018-0567-4)

[Zhang et al., NOD2 in Parkinson's disease (2019)](https://doi.org/10.1002/mds.27789)

[TLR4](/genes/tlr4) - Toll-like receptor 4 (related immune sensor)
[NLRP3](/genes/nlrp3) - Inflammasome component
[Crohn's Disease](/diseases/crohns-disease) - Associated disease
[Neuroinflammation](/mechanisms/neuroinflammation) - Related mechanism

Background

The study of Nod2 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.

Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.

Pathway Diagram

The following diagram shows the key molecular relationships involving NOD2 Gene discovered through SciDEX knowledge graph analysis:

Mermaid diagram (expand to render)

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Related Entities

NOD2

▸Metadataorigin_type: v1_polymorphic_backfill

slug	genes-nod2
kg_node_id	NOD2
entity_type	gene
origin_type	v1_polymorphic_backfill
source_table	wiki_pages
wiki_page_id	wp-e29fdf0850af
__merged_from	{'merged_at': '2026-05-13', 'unprefixed_id': 'genes-nod2'}
_schema_version	1

📊 Evidence Profile Foundational

Evidence Balance

+0%

Certainty

85%

Debates

0

Incoming

17

Outgoing

18

0 supporting 0 contradicting 0 neutral

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📗 Cite This Artifact

NOD2 Gene

NOD2

Pathway Diagram

Introduction

NOD2

Pathway Diagram

Introduction

Overview

Function

Disease Associations

Crohn's Disease

Blau Syndrome

Neuroinflammation

Expression

Key Publications

Background

See Also

Pathway Diagram

💬 Discussion

📗 Cite This Artifact

NOD2 Gene

NOD2

Pathway Diagram

Introduction

NOD2

Pathway Diagram

Introduction

Overview

Function

Disease Associations

Crohn's Disease

Blau Syndrome

Neuroinflammation

Expression

Key Publications

Related Pages

Background

See Also

Pathway Diagram

💬 Discussion