COPZ2 Gene - Coatomer Subunit Zeta 2
A component of the COPI coatomer complex involved in intracellular vesicle transport
Gene Information Card
| Symbol | COPZ2 |
|---|---|
| Full Name | COPI coat complex subunit zeta 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.32 |
| NCBI Gene ID | 51226 ncbi.nlm.nih.gov/gene/51226 |
| Ensembl ID | ENSG00000108423 |
| UniProt ID | Q9P2E3 |
| OMIM ID | 617447 |
| HGNC ID | 30156 |
| Aliases | CGI-120, zeta2-COP, zeta-COP2 |
Description
COPZ2 encodes the zeta-2 subunit of the COPI coatomer complex, which is essential for retrograde vesicular transport from the Golgi apparatus to the endoplasmic reticulum. The COPI complex mediates protein and lipid trafficking, maintaining organelle identity and cellular homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 7.1 | Low |
| Heart | 6.9 | Low |
| Lung | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Embryonic kidney cells |
| HeLa | 9.8 | Cervical cancer cells |
| K562 | 7.5 | Leukemia cells |
| A549 | 6.3 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | missense | <0.01% | Potential start codon loss, likely benign |
| c.100C>T (p.Arg34Trp) | missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
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)
Pathways
• ['COPI-dependent Golgi-to-ER retrograde traffic (Reactome R-HSA-6811434)']
• ['Membrane trafficking (KEGG hsa04141)']
Protein Summary
COPZ2 is a 20 kDa protein (182 amino acids) that forms part of the COPI coatomer complex. It interacts with other coatomer subunits to facilitate vesicle budding and cargo selection. The protein is ubiquitously expressed with moderate levels in brain and lower levels in other tissues. No pathogenic mutations have been clinically validated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COPZ2 Knockout HEK293 Cell Line | EDJ-KQ10984 | Human | 51226 | Details Get a Quote |
| COPZ2 Knockout A-549 Cell Line | EDJ-KQ38817 | Human | 51226 | Details Get a Quote |
| COPZ2 Knockout HeLa Cell Line | EDJ-KQ38818 | Human | 51226 | Details Get a Quote |
| COPZ2 Knockout HCT 116 Cell Line | EDJ-KQ73190 | Human | 51226 | Details Get a Quote |
