COPE: Coatomer Subunit Epsilon
A key component of the COPI coatomer complex involved in intracellular vesicle trafficking and Golgi transport.
Gene Information Card
| Symbol | COPE |
|---|---|
| Full Name | Coatomer Subunit Epsilon |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.32 |
| NCBI Gene ID | 11316 ncbi.nlm.nih.gov/gene/11316 |
| Ensembl ID | ENSG00000105669 |
| UniProt ID | O14579 |
| OMIM ID | 606942 |
| HGNC ID | 2230 |
| Aliases | COATOMER EPSILON, EPSILON-COP, COPI |
Description
The COPE gene encodes the epsilon subunit of the coatomer protein complex (COPI). This complex is essential for retrograde vesicular transport from the Golgi apparatus to the endoplasmic reticulum (ER) and for intra-Golgi trafficking. The epsilon subunit is required for the stability and assembly of the COPI coatomer complex.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Spastic Paraplegia (HSP) | Mutations in COPE disrupt COPI-mediated trafficking, leading to ER stress and axonal degeneration. | ClinVar, OMIM |
| Neurodevelopmental disorder with spasticity and brain anomalies | Loss-of-function variants impair coatomer function, affecting neuronal development. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 10.2 | Medium |
| Kidney | 9.8 | Medium |
| Heart | 8.5 | Medium |
| Lung | 7.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| HeLa | 12.1 | Medium expression |
| K562 | 9.4 | Medium expression |
| SH-SY5Y | 11.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.346C>T (p.Arg116Trp) | Missense | Rare | Impaired coatomer assembly |
| c.601G>A (p.Gly201Arg) | Missense | Rare | Reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Most reported COPE mutations are loss-of-function, leading to reduced coatomer stability and impaired vesicle trafficking.
Gain of Function (GOF)
No gain-of-function mutations have been reported for COPE.
Dominant Negative (DN)
Some missense variants may exert dominant-negative effects by disrupting complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • Golgi vesicle transport | • Intra-Golgi vesicle-mediated transport |
| • Protein transport | • Vesicle-mediated transport |
| • Endoplasmic reticulum to Golgi vesicle-mediated transport |
Pathways
• COPI-dependent Golgi-to-ER retrograde traffic
• Vesicle-mediated transport
Protein Summary
The COPE protein (epsilon-COP) is a 308-amino acid subunit of the COPI coatomer complex. It is localized to the Golgi apparatus and is essential for maintaining the structural integrity of the coatomer. Epsilon-COP interacts with other coatomer subunits and is involved in cargo recognition and vesicle budding.
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|---|---|---|---|---|
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