CPNE4 Gene - Copine 4
A member of the copine family involved in membrane trafficking and calcium-dependent phospholipid binding.
Gene Information Card
| Symbol | CPNE4 |
|---|---|
| Full Name | Copine 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q22.1 |
| NCBI Gene ID | 131034 ncbi.nlm.nih.gov/gene/131034 |
| Ensembl ID | ENSG00000163874 |
| UniProt ID | Q96A23 |
| OMIM ID | 612206 |
| HGNC ID | 2319 |
| Aliases | CPN4, copine IV |
Description
CPNE4 encodes copine 4, a calcium-dependent phospholipid-binding protein that belongs to the copine family. Copines are involved in membrane trafficking, signal transduction, and cell proliferation. CPNE4 is widely expressed and may play a role in neuronal development and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression may influence tumor progression | COSMIC, literature |
| Colorectal cancer | Mutations and expression changes reported | COSMIC, literature |
| Lung cancer | Somatic mutations observed | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Medium |
| Lung | 5.8 | Low |
| Liver | 3.1 | Low |
| Kidney | 7.4 | Low |
| Testis | 12.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.9 | Embryonic kidney cells |
| HeLa | 6.3 | Cervical cancer cells |
| A549 | 4.7 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A | Missense | 0.01% | p.Val412Met; uncertain significance |
| c.567_568del | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations may lead to truncated protein and loss of calcium-dependent phospholipid binding.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • calcium-dependent phospholipid binding (GO:0005544) | • calcium ion binding (GO:0005509) |
| • membrane (GO:0016020) | • cytoplasm (GO:0005737) |
Pathways
• Calcium signaling pathway
• Membrane trafficking
Protein Summary
Copine 4 is a 587-amino acid protein with two C2 domains at the N-terminus and an A domain at the C-terminus. It binds calcium and phospholipids, mediating membrane interactions. The protein is involved in vesicle transport and may regulate cell growth.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CPNE4 Knockout HEK293 Cell Line | EDJ-KQ9261 | Human | 131034 | Details Get a Quote |
| CPNE4 Knockout A-549 Cell Line | EDJ-KQ35864 | Human | 131034 | Details Get a Quote |
| CPNE4 Knockout HeLa Cell Line | EDJ-KQ58288 | Human | 131034 | Details Get a Quote |
| CPNE4 Knockout HCT 116 Cell Line | EDJ-KQ75179 | Human | 131034 | Details Get a Quote |
