CPNE5 Gene - Copine 5
A member of the copine family involved in membrane trafficking and signal transduction
Gene Information Card
| Symbol | CPNE5 |
|---|---|
| Full Name | Copine 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 57699 ncbi.nlm.nih.gov/gene/57699 |
| Ensembl ID | ENSG00000112297 |
| UniProt ID | Q9HCH0 |
| OMIM ID | 609543 |
| HGNC ID | 2319 |
| Aliases | CPN5, copine V |
Description
CPNE5 (copine 5) 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. CPNE5 is widely expressed in various tissues and has been implicated in cellular processes such as exocytosis and endocytosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No curated evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Lung | 5.1 | Low |
| Liver | 3.4 | Low |
| Kidney | 4.7 | Low |
| Testis | 6.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 7.5 | Moderate expression |
| HeLa | 5.9 | Low expression |
| K562 | 4.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | Rare | Unknown functional impact |
| c.567_568del (p.Glu190fs) | 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)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • calcium-dependent phospholipid binding | • membrane trafficking |
| • signal transduction | • protein homodimerization activity |
Pathways
• No specific pathway curated in Reactome or KEGG
Protein Summary
Copine 5 is a calcium-dependent phospholipid-binding protein that may play a role in membrane trafficking and signal transduction. It contains two C2 domains and an A domain, typical of the copine family. The protein is expressed in multiple tissues and is involved in cellular processes such as exocytosis and endocytosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CPNE5 Knockout HEK293 Cell Line | EDJ-KQ6395 | Human | 57699 | Details Get a Quote |
| CPNE5 Knockout HeLa Cell Line | EDJ-KQ56902 | Human | 57699 | Details Get a Quote |
| CPNE5 Knockout A-549 Cell Line | EDJ-KQ65412 | Human | 57699 | Details Get a Quote |
| CPNE5 Knockout HCT 116 Cell Line | EDJ-KQ73848 | Human | 57699 | Details Get a Quote |
