CPNE7
Copine 7
Gene Information Card
| Symbol | CPNE7 |
|---|---|
| Full Name | Copine 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q24.1 |
| NCBI Gene ID | 27132 ncbi.nlm.nih.gov/gene/27132 |
| Ensembl ID | ENSG00000140987 |
| UniProt ID | Q9UBL6 |
| OMIM ID | 610208 |
| HGNC ID | 2319 |
| Aliases | CPN7, copine VII |
Description
CPNE7 (Copine 7) is a protein-coding gene that belongs to the copine family, characterized by calcium-dependent phospholipid-binding domains. Copines are involved in membrane trafficking, cell signaling, and development. CPNE7 is expressed in various tissues and has been implicated in cellular processes such as exocytosis and cell adhesion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No direct evidence from ClinVar, OMIM, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Lung | 3.8 | Low |
| Kidney | 2.1 | Low |
| Testis | 1.5 | Low |
| Spleen | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 2.5 | Low expression |
| HeLa | 1.8 | Low expression |
| K562 | 0.5 | Not detected |
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 | • membrane trafficking |
| • cell adhesion |
Pathways
• No specific pathway annotation
Protein Summary
Copine 7 is a calcium-dependent phospholipid-binding protein that may play a role in membrane-related processes such as exocytosis and cell adhesion. Its expression is low across most tissues, and no disease-associated mutations have been reported.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CPNE7 Knockout HEK293 Cell Line | EDJ-KQ7955 | Human | 27132 | Details Get a Quote |
| CPNE7 Knockout A-549 Cell Line | EDJ-KQ34905 | Human | 27132 | Details Get a Quote |
| CPNE7 Knockout HCT 116 Cell Line | EDJ-KQ34907 | Human | 27132 | Details Get a Quote |
| CPNE7 Knockout HeLa Cell Line | EDJ-KQ34908 | Human | 27132 | Details Get a Quote |
