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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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COPZ2
coat protein complex I subunit zeta 2
Chromosome 17 · 17q21.32
NCBI Gene: 51226Ensembl: ENSG00000005243.11HGNC: HGNC:19356UniProt: Q9P299
17PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
COPI vesicle coatintra-Golgi vesicle-mediated transportintracellular protein transportretrograde vesicle-mediated transport, Golgi to endoplasmic reticulumneurodegenerative diseasehair colorAbnormality of the skeletal systemtotal hip arthroplasty
✦AI Summary

COPZ2 encodes the zeta 2 subunit of the coat protein complex I (COPI), which mediates intracellular protein transport. As a component of the coatomer complex, COPZ2 participates in COPI vesicle coat formation and is essential for retrograde Golgi-to-endoplasmic reticulum transport of dilysine-tagged proteins 1. The zeta subunit may regulate coat assembly kinetics through its association-dissociation properties with the COPI complex, influencing biosynthetic protein transport rates. Clinically, COPZ2 dysfunction has implications for multiple diseases. In hematopoiesis, mutations in the related COPZ1 gene cause severe congenital neutropenia by disrupting retrograde protein transport and impairing granulocytic differentiation through JAK/STAT and HIF1α pathway dysregulation; notably, COPZ2 transduction rescued this defect 2. In cancer biology, COPZ2 is downregulated in most tumor cell lines, and its loss renders tumors dependent on COPZ1 for survival; COPZ2 harbors tumor-suppressive microRNA-152, providing a therapeutic opportunity for selective tumor cell killing 1. Reduced COPZ2 expression correlates with unfavorable prognosis in thyroid cancer 3 and hepatocellular carcinoma 4, and COPZ2 appears as a candidate driver gene in triple-negative breast cancer 5. Additionally, genetic variants regulating COPZ2 expression associate with Alzheimer's disease susceptibility 6.

Sources cited
1
COPZ1 mutations cause severe congenital neutropenia; COPZ2 transduction restores defective granulopoiesis and normal retrograde protein transport
PMID: 39642330
2
COPZ2 is downregulated in tumor cells; tumor cells depend on COPZ1 due to COPZ2 silencing; COPZ2 hosts tumor-suppressive microRNA-152
PMID: 21746916
3
COPZ2 expression negatively correlates with thyroid cancer prognosis
PMID: 37355885
4
COPZ2 is a risk gene in hepatocellular carcinoma anoikis classification model
PMID: 38226966
5
COPZ2 identified as possible novel driver gene in triple-negative breast cancer in African patients
PMID: 40133516
6
Genetic variants regulating COPZ2 expression associate with Alzheimer's disease susceptibility
PMID: 31608112
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.46Moderate
hair colorOpen Targets
0.38Weak
Abnormality of the skeletal systemOpen Targets
0.34Weak
total hip arthroplastyOpen Targets
0.28Weak
jaw diseaseOpen Targets
0.28Weak
osteoarthritis, hipOpen Targets
0.28Weak
prostate carcinomaOpen Targets
0.28Weak
diabetes mellitusOpen Targets
0.27Weak
type 2 diabetes mellitusOpen Targets
0.22Weak
familial hypercholesterolemiaOpen Targets
0.18Weak
epilepsyOpen Targets
0.14Weak
device complicationOpen Targets
0.14Weak
metabolic syndromeOpen Targets
0.13Weak
endometrial cancerOpen Targets
0.09Suggestive
gliomaOpen Targets
0.07Suggestive
thyroid diseaseOpen Targets
0.06Suggestive
intelligenceOpen Targets
0.06Suggestive
medical procedureOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
restless legs syndromeOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TMED3Protein interaction98%TMED7Protein interaction98%COPB1Protein interaction84%COPB2Protein interaction84%ARCN1Protein interaction80%COPAProtein interaction80%
Tissue Expression6 tissues
Heart
100%
Liver
83%
Lung
39%
Ovary
23%
Brain
18%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
COPZ2TMED3TMED7COPB1COPB2ARCN1COPA
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9P299
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.37LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.94 [0.66–1.37]
RankingsWhere COPZ2 stands among ~20K protein-coding genes
  • #14,961of 20,598
    Most Researched17
  • #14,261of 17,882
    Most Constrained (LOEUF)1.37
Genes detectedCOPZ2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A new severe congenital neutropenia syndrome associated with autosomal recessive COPZ1 mutations.
PMID: 39642330
Blood · 2025
1.00
2
Tumor-specific silencing of COPZ2 gene encoding coatomer protein complex subunit ζ 2 renders tumor cells dependent on its paralogous gene COPZ1.
PMID: 21746916
Proc Natl Acad Sci U S A · 2011
0.90
3
A workflow to study mechanistic indicators for driver gene prediction with Moonlight.
PMID: 37551622
Brief Bioinform · 2023
0.80
4
Coding and regulatory somatic profiling of triple-negative breast cancer in Sub-Saharan African patients.
PMID: 40133516
Sci Rep · 2025
0.70
5
Genetic and Expression Analysis of COPI Genes and Alzheimer's Disease Susceptibility.
PMID: 31608112
Front Genet · 2019
0.60