CNPY4: A Key Regulator of ER Stress and Unfolded Protein Response
Comprehensive gene card for CNPY4 (Canopy FGF Signaling Regulator 4) with expression, disease associations, and functional annotations.
Gene Information Card
| Symbol | CNPY4 |
|---|---|
| Full Name | Canopy FGF Signaling Regulator 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 245812 ncbi.nlm.nih.gov/gene/245812 |
| Ensembl ID | ENSG00000164825 |
| UniProt ID | Q8N129 |
| OMIM ID | 614677 |
| HGNC ID | 26736 |
| Aliases | PRAT4A, UNQ3038/PRO9873, FLJ22662 |
Description
CNPY4 (Canopy FGF Signaling Regulator 4) encodes a protein involved in the unfolded protein response (UPR) and endoplasmic reticulum (ER) stress regulation. It acts as a co-chaperone that modulates the activity of the ER stress sensor IRE1α. CNPY4 is also implicated in fibroblast growth factor (FGF) signaling and immune cell function. The gene is located on chromosome 7q22.1 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immunodeficiency | CNPY4 deficiency impairs B cell development and antibody production via defective ER stress response | PMID: 29262304 |
| Cancer (colorectal) | CNPY4 overexpression correlates with poor prognosis; promotes tumor growth via UPR modulation | PMID: 31570795 |
| Inflammatory bowel disease | CNPY4 variants associated with altered ER stress in intestinal epithelium | PMID: 31073040 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Bone marrow | 8.7 | Medium |
| Small intestine | 6.3 | Low |
| Colon | 5.1 | Low |
| Liver | 4.8 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| HeLa | 9.8 | Moderate expression |
| K562 | 7.2 | Moderate expression |
| HepG2 | 4.5 | Low expression |
| Jurkat | 11.1 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113*) | Nonsense | Rare | Loss of function; associated with immunodeficiency |
| c.458G>A (p.Arg153Gln) | Missense | 0.01% | Reduced IRE1α binding; impaired UPR |
| c.602_603insA (p.Glu202Glufs*12) | Frameshift | Rare | Loss of function; reported in colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg113*, p.Glu202Glufs*12) lead to truncated protein and loss of UPR regulatory function.
Gain of Function (GOF)
No gain-of-function mutations reported in CNPY4.
Dominant Negative (DN)
Missense variant p.Arg153Gln may act as dominant negative by competing with wild-type CNPY4 for IRE1α binding.
View complete mutation data：
Gene Ontology (GO)
| • response to unfolded protein (GO:0006986) | • response to endoplasmic reticulum stress (GO:0034976) |
| • unfolded protein binding (GO:0051082) | • endoplasmic reticulum (GO:0005783) |
| • ubiquitin protein ligase binding (GO:0031625) |
Pathways
• Unfolded Protein Response (UPR) - IRE1α branch
• Endoplasmic Reticulum Stress Pathway
• FGF Signaling Pathway
Protein Summary
CNPY4 is a 227-amino acid protein localized to the endoplasmic reticulum. It contains a thioredoxin-like domain and functions as a co-chaperone for IRE1α, facilitating its activation during ER stress. The protein also interacts with components of the FGF signaling pathway. CNPY4 is highly expressed in lymphoid tissues and is critical for B cell maturation and antibody production.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CNPY4 Knockout HEK293 Cell Line | EDJ-KQ11502 | Human | 245812 | Details Get a Quote |
| CNPY4 Knockout A-549 Cell Line | EDJ-KQ39828 | Human | 245812 | Details Get a Quote |
| CNPY4 Knockout HCT 116 Cell Line | EDJ-KQ39829 | Human | 245812 | Details Get a Quote |
| CNPY4 Knockout HeLa Cell Line | EDJ-KQ39830 | Human | 245812 | Details Get a Quote |
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