RIPK2 Gene - Receptor Interacting Serine/Threonine Kinase 2
Key mediator of innate immune signaling and NOD-dependent pathways
Gene Information Card
| Symbol | RIPK2 |
|---|---|
| Full Name | Receptor Interacting Serine/Threonine Kinase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q21.3 |
| NCBI Gene ID | 8767 ncbi.nlm.nih.gov/gene/8767 |
| Ensembl ID | ENSG00000104312 |
| UniProt ID | O43353 |
| OMIM ID | 603455 |
| HGNC ID | 10020 |
| Aliases | RICK, RIP2, CARDIAK, CARD3, GIG30 |
Description
RIPK2 encodes a serine/threonine kinase that plays a critical role in innate immune signaling. It acts as an adaptor and kinase downstream of NOD1 and NOD2 receptors, mediating NF-κB and MAPK activation in response to bacterial peptidoglycans. RIPK2 is also involved in apoptosis and inflammatory responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Crohn disease (IBD1) | RIPK2 interacts with NOD2; variants may alter NOD2 signaling, contributing to intestinal inflammation | ClinVar, OMIM |
| Blau syndrome | RIPK2 is a downstream effector of NOD2; gain-of-function NOD2 mutations lead to constitutive RIPK2 activation | OMIM |
| Inflammatory bowel disease | RIPK2 polymorphisms associated with increased risk; altered NF-κB activation | NCBI Gene, ClinVar |
| Gastric cancer | RIPK2 overexpression linked to Helicobacter pylori-induced inflammation and carcinogenesis | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 9.2 | Medium |
| Lung | 6.4 | Low |
| Colon | 5.1 | Low |
| Small intestine | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 15.3 | High expression; used in NOD2 signaling studies |
| HeLa (cervical) | 7.2 | Moderate expression |
| HEK293 (embryonic kidney) | 5.6 | Low baseline; inducible by LPS |
| Jurkat (T-cell) | 9.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1157C>T (p.Thr386Met) | Missense | 0.02% | Reduced kinase activity; associated with IBD |
| c.1469G>A (p.Arg490Gln) | Missense | 0.01% | Altered NOD2 binding; reported in Crohn disease |
| c.1000A>G (p.Ile334Val) | Missense | 0.05% | Unknown functional effect; population variant |
Mutation functional classification
Loss of Function (LOF)
p.Thr386Met reduces kinase activity and NF-κB activation.
Gain of Function (GOF)
Not well documented; some variants may enhance signaling in inflammatory conditions.
Dominant Negative (DN)
p.Arg490Gln may interfere with NOD2-RIPK2 complex formation.
View complete mutation data：
Gene Ontology (GO)
Pathways
• NOD-like receptor signaling pathway (KEGG: hsa04621)
• NF-kappa B signaling pathway (KEGG: hsa04064)
• Apoptosis (KEGG: hsa04210)
• RIPK2-mediated NOD2 signaling (Reactome: R-HSA-5607764)
Protein Summary
RIPK2 is a 540-amino acid protein containing an N-terminal serine/threonine kinase domain and a C-terminal caspase activation and recruitment domain (CARD). It functions as a dual kinase and scaffold protein, essential for NOD1/NOD2-mediated innate immunity. Upon ligand binding, RIPK2 undergoes autophosphorylation and recruits ubiquitin ligases to activate NF-κB and MAPK pathways. It is a target for therapeutic inhibition in inflammatory diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RIPK2 Knockout HEK293 Cell Line | EDJ-KQ6357 | Human | 8767 | Details Get a Quote |
| RIPK2 Knockout A-549 Cell Line | EDJ-KQ30314 | Human | 8767 | Details Get a Quote |
| RIPK2 Knockout HCT 116 Cell Line | EDJ-KQ30315 | Human | 8767 | Details Get a Quote |
| RIPK2 Knockout HeLa Cell Line | EDJ-KQ30316 | Human | 8767 | Details Get a Quote |
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