CNPY2: A Key Regulator of ER Stress and Lipid Metabolism
Comprehensive gene card for CNPY2 (canopy FGF signaling regulator 2) with expression, disease associations, and functional annotations.
Gene Information Card
| Symbol | CNPY2 |
|---|---|
| Full Name | canopy FGF signaling regulator 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q24.33 |
| NCBI Gene ID | 10345 ncbi.nlm.nih.gov/gene/10345 |
| Ensembl ID | ENSG00000111247 |
| UniProt ID | Q9Y2B0 |
| OMIM ID | 610883 |
| HGNC ID | 24301 |
| Aliases | TMEM4, ZSIG13, MIR1-1-HG |
Description
CNPY2 (canopy FGF signaling regulator 2) encodes a protein involved in the unfolded protein response (UPR) and endoplasmic reticulum (ER) stress. It acts as a negative regulator of PERK signaling and promotes cell survival under ER stress. CNPY2 also plays a role in lipid metabolism and is implicated in cancer and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | CNPY2 overexpression promotes tumor growth and metastasis via ER stress modulation | PMID: 31289267 |
| Non-alcoholic fatty liver disease (NAFLD) | CNPY2 regulates hepatic lipid accumulation and ER stress response | PMID: 31730861 |
| Colorectal cancer | CNPY2 upregulation correlates with poor prognosis and chemoresistance | PMID: 32699421 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Adipose tissue | 8.3 | Low |
| Pancreas | 6.7 | Low |
| Small intestine | 5.9 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| Huh7 | 13.8 | Hepatoma cell line |
| SW480 | 11.5 | Colorectal adenocarcinoma cell line |
| MCF7 | 7.1 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287A>G (p.Asn96Ser) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.412C>T (p.Arg138Trp) | Missense | 0.005% (gnomAD) | Predicted damaging (SIFT) |
| c.523_524insG | Frameshift | <0.001% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.523_524insG) likely lead to truncated protein and loss of ER stress regulation.
Gain of Function (GOF)
Not well characterized; overexpression in cancer suggests potential gain-of-function in tumorigenesis.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Unfolded Protein Response (UPR) - PERK signaling
• ER stress-induced apoptosis
• Lipid metabolism regulation
Protein Summary
CNPY2 is a 182-amino acid protein localized to the endoplasmic reticulum. It contains a signal peptide and a conserved canopy domain. The protein interacts with PERK to attenuate ER stress signaling, thereby promoting cell survival. CNPY2 is also involved in lipid droplet formation and hepatic steatosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CNPY2 Knockout HEK293 Cell Line | EDJ-KQ50959 | Human | 10330 | Details Get a Quote |
| CNPY2 Knockout HeLa Cell Line | EDJ-KQ55381 | Human | 10330 | Details Get a Quote |
| CNPY2 Knockout A-549 Cell Line | EDJ-KQ63863 | Human | 10330 | Details Get a Quote |
| CNPY2 Knockout HCT 116 Cell Line | EDJ-KQ72320 | Human | 10330 | Details Get a Quote |
