CNPY3: A Key Regulator of Toll-like Receptor Trafficking and Innate Immunity
Comprehensive gene card for CNPY3 (Canopy FGF Signaling Regulator 3) with expression, mutations, and disease associations.
Gene Information Card
| Symbol | CNPY3 |
|---|---|
| Full Name | Canopy FGF Signaling Regulator 3 |
| Gene Type | Protein-coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q9Y2L1 |
| OMIM ID | 610376 |
| HGNC ID | 23756 |
| Aliases | CAG4A, ERDA5, TNRC5 |
Description
CNPY3 (Canopy FGF Signaling Regulator 3) encodes a protein that functions as a co-chaperone for Toll-like receptors (TLRs), facilitating their proper folding and trafficking from the endoplasmic reticulum to the cell surface. It is involved in innate immune responses and has been implicated in various inflammatory and infectious diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Inflammatory bowel disease | CNPY3 variants may alter TLR trafficking, leading to dysregulated immune responses in the gut. | ClinVar, PMID: 25664854 |
| Tuberculosis | Defective CNPY3 impairs TLR2/4 surface expression, reducing macrophage response to Mycobacterium tuberculosis. | NCBI Gene, PMID: 22968463 |
| Systemic lupus erythematosus | CNPY3 polymorphisms associated with altered TLR signaling and autoantibody production. | OMIM, PMID: 23377225 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Lung | 8.2 | Medium |
| Small intestine | 6.9 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 15.3 | High expression; used in TLR studies |
| HEK293T | 9.7 | Moderate; common overexpression model |
| Jurkat (T-cell) | 7.4 | Low; minimal TLR involvement |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | 0.0002 (gnomAD) | Impaired TLR4 trafficking; reduced cytokine response |
| c.544G>A (p.Gly182Ser) | Missense | 0.0001 | Altered protein stability; associated with IBD risk |
| c.1A>G (p.Met1Val) | Start loss | <0.0001 | Loss of function; complete loss of CNPY3 activity |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss variants that disrupt TLR chaperone activity, leading to impaired innate immune signaling.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in CNPY3.
Dominant Negative (DN)
Not documented; CNPY3 likely functions as a monomer, and dominant-negative effects are not established.
View complete mutation data：
Gene Ontology (GO)
| • protein folding chaperone | • endoplasmic reticulum |
| • Toll-like receptor binding | • innate immune response |
| • protein transport |
Pathways
• Toll-like receptor signaling pathway (KEGG: hsa04620)
• Endoplasmic reticulum protein processing (KEGG: hsa04141)
Protein Summary
CNPY3 is a 40 kDa protein localized to the endoplasmic reticulum. It acts as a co-chaperone for TLRs, particularly TLR1, TLR2, TLR4, and TLR6, ensuring their correct folding and exit from the ER. The protein contains a conserved canopy domain and interacts with the chaperone gp96 (HSP90B1). Loss of CNPY3 leads to reduced surface TLR expression and impaired cytokine production in response to microbial ligands.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CNPY3 Knockout HEK293 Cell Line | EDJ-KQ7135 | Human | 10695 | Details Get a Quote |
| CNPY3 Knockout A-549 Cell Line | EDJ-KQ32020 | Human | 10695 | Details Get a Quote |
| CNPY3 Knockout HCT 116 Cell Line | EDJ-KQ32021 | Human | 10695 | Details Get a Quote |
| CNPY3 Knockout HeLa Cell Line | EDJ-KQ32022 | Human | 10695 | Details Get a Quote |
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