CPNE3: Copine 3 – A Calcium-Dependent Phospholipid-Binding Protein
Comprehensive gene overview of CPNE3, including genomic context, expression, mutations, and disease associations.
Gene Information Card
| Symbol | CPNE3 |
|---|---|
| Full Name | Copine 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q21.3 |
| NCBI Gene ID | 8895 ncbi.nlm.nih.gov/gene/8895 |
| Ensembl ID | ENSG00000104419 |
| UniProt ID | O75131 |
| OMIM ID | 604207 |
| HGNC ID | 2318 |
| Aliases | CPN3, copine III |
Description
CPNE3 (Copine 3) encodes a calcium-dependent phospholipid-binding protein belonging to the copine family. Copines are involved in membrane trafficking, cell signaling, and regulation of cell proliferation. CPNE3 is ubiquitously expressed and has been implicated in cancer progression, particularly in breast and lung cancers, where it may influence cell migration and invasion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | CPNE3 overexpression promotes cell migration and invasion via integrin/FAK signaling | PMID: 25605248 |
| Lung cancer | CPNE3 upregulation correlates with poor prognosis and enhances metastatic potential | PMID: 27323851 |
| Colorectal cancer | CPNE3 expression is elevated and associated with tumor progression | PMID: 29057921 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 18.3 | Medium |
| Breast | 15.7 | Medium |
| Colon | 20.1 | Medium |
| Liver | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 22.4 | High expression |
| A549 (lung cancer) | 19.8 | High expression |
| HCT116 (colorectal cancer) | 21.0 | High expression |
| HEK293 (embryonic kidney) | 14.2 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Cys) | Missense | 0.02% (gnomAD) | Unknown functional impact |
| c.1246G>A (p.Gly416Ser) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.1489_1490insA (p.Thr497Asnfs*5) | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Thr497Asnfs*5) are predicted to cause loss of function via nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in CPNE3.
Dominant Negative (DN)
No evidence for dominant-negative effects in CPNE3.
View complete mutation data：
Gene Ontology (GO)
| • calcium-dependent phospholipid binding (GO:0005544) | • cytoplasm (GO:0005737) |
| • plasma membrane (GO:0005886) | • signal transduction (GO:0007165) |
| • membrane (GO:0016020) |
Pathways
• Integrin signaling pathway (Reactome: R-HSA-354192)
• FAK signaling (Reactome: R-HSA-416482)
Protein Summary
CPNE3 encodes a 537-amino acid protein (UniProt O75131) with two C2 domains (calcium-dependent phospholipid-binding) and an A domain (von Willebrand factor type A). It localizes to the plasma membrane and cytoplasm, mediating calcium-dependent membrane interactions. CPNE3 is involved in cell adhesion, migration, and proliferation, and its dysregulation contributes to cancer metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CPNE3 Knockout HEK293 Cell Line | EDJ-KQ6396 | Human | 8895 | Details Get a Quote |
| CPNE3 Knockout A-549 Cell Line | EDJ-KQ30419 | Human | 8895 | Details Get a Quote |
| CPNE3 Knockout HCT 116 Cell Line | EDJ-KQ30420 | Human | 8895 | Details Get a Quote |
| CPNE3 Knockout HeLa Cell Line | EDJ-KQ30421 | Human | 8895 | Details Get a Quote |
