CPNE2: Copine 2 Gene
A member of the copine family involved in membrane trafficking and signal transduction
Gene Information Card
| Symbol | CPNE2 |
|---|---|
| Full Name | Copine 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q24.1 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000140937 |
| UniProt ID | Q96FN4 |
| OMIM ID | 607684 |
| HGNC ID | 2318 |
| Aliases | CPN2, copine II |
Description
CPNE2 (copine 2) is a protein-coding gene belonging to the copine family, which are calcium-dependent phospholipid-binding proteins. Copines are involved in membrane trafficking, signal transduction, and cell proliferation. CPNE2 is widely expressed in various tissues and may play a role in cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression of CPNE2 may influence tumor progression through calcium signaling and membrane dynamics. | COSMIC; literature (PMID: 25691885) |
| Colorectal cancer | CPNE2 expression changes observed in tumor tissues; potential role in cell adhesion and migration. | COSMIC; literature (PMID: 27803116) |
| Lung cancer | CPNE2 mutations and expression alterations reported; possible involvement in oncogenic pathways. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Lung | 9.7 | Low |
| Kidney | 11.2 | Medium |
| Testis | 15.8 | Medium |
| Breast | 7.4 | Low |
| Colon | 10.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.2 | Embryonic kidney cells; moderate expression |
| HeLa | 11.5 | Cervical cancer cells; moderate expression |
| A549 | 9.8 | Lung cancer cells; low expression |
| MCF7 | 12.0 | Breast cancer cells; moderate expression |
| HCT116 | 10.6 | Colorectal cancer cells; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown; predicted benign by in silico tools |
| c.205G>A (p.Gly69Ser) | Missense | <0.01% | Unknown; predicted possibly damaging |
| c.412A>G (p.Ile138Val) | Missense | <0.01% | Unknown; predicted benign |
| c.589C>T (p.Arg197Trp) | Missense | <0.01% | Unknown; predicted damaging |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in CPNE2.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • calcium-dependent phospholipid binding | • calcium ion binding |
| • membrane trafficking | • signal transduction |
| • cell proliferation |
Pathways
• Calcium signaling pathway
• Phospholipid binding and membrane dynamics
Protein Summary
Copine 2 is a calcium-dependent phospholipid-binding protein that localizes to the plasma membrane and intracellular vesicles. It is involved in membrane trafficking, signal transduction, and cell proliferation. The protein contains two C2 domains and an A domain, which mediate calcium and phospholipid interactions. CPNE2 is expressed in multiple tissues and may contribute to cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CPNE2 Knockout HEK293 Cell Line | EDJ-KQ8804 | Human | 221184 | Details Get a Quote |
| CPNE2 Knockout A-549 Cell Line | EDJ-KQ35103 | Human | 221184 | Details Get a Quote |
| CPNE2 Knockout HeLa Cell Line | EDJ-KQ35105 | Human | 221184 | Details Get a Quote |
| CPNE2 Knockout HCT 116 Cell Line | EDJ-KQ33853 | Human | 221184 | Details Get a Quote |
