CPNE8 Gene - Copine 8
A member of the copine family involved in membrane trafficking and signal transduction.
Gene Information Card
| Symbol | CPNE8 |
|---|---|
| Full Name | Copine 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q12 |
| NCBI Gene ID | 144402 ncbi.nlm.nih.gov/gene/144402 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q8N8J0 |
| OMIM ID | 611560 |
| HGNC ID | 23199 |
| Aliases | COPN8, copine VIII |
Description
CPNE8 encodes copine 8, a calcium-dependent phospholipid-binding protein belonging to the copine family. Copines are involved in membrane trafficking, signal transduction, and cell proliferation. CPNE8 is widely expressed and may play a role in cellular processes such as exocytosis and endocytosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Embryonic kidney cells |
| HeLa | 7.8 | Cervical cancer cells |
| A549 | 6.5 | Lung cancer cells |
| K562 | 5.1 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • calcium-dependent phospholipid binding (GO:0005544) | • intracellular protein transport (GO:0006886) |
| • vesicle-mediated transport (GO:0016192) | • cytoplasm (GO:0005737) |
Protein Summary
Copine 8 is a 537-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 trafficking and signal transduction, though its specific physiological roles remain under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CPNE8 Knockout HEK293 Cell Line | EDJ-KQ10415 | Human | 144402 | Details Get a Quote |
| CPNE8 Knockout A-549 Cell Line | EDJ-KQ36476 | Human | 144402 | Details Get a Quote |
| CPNE8 Knockout HCT 116 Cell Line | EDJ-KQ37775 | Human | 144402 | Details Get a Quote |
| CPNE8 Knockout HeLa Cell Line | EDJ-KQ37776 | Human | 144402 | Details Get a Quote |
