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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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COPG2
coat protein complex I subunit gamma 2
Chromosome 7 · 7q32.2
NCBI Gene: 26958Ensembl: ENSG00000158623.14HGNC: HGNC:2237UniProt: A0A140VK12
134PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
intra-Golgi vesicle-mediated transportCOPI vesicle coatendoplasmic reticulum-Golgi intermediate compartmentprotein secretionAbnormality of the skeletal systemAlzheimer diseasemultiple sclerosislysosomal storage disease
✦AI Summary

COPG2 encodes the gamma-2 subunit of coatomer protein complex I (COPI), a cytosolic complex essential for vesicular transport between the endoplasmic reticulum and Golgi apparatus. COPG2 functions as a component of non-clathrin-coated vesicles that mediate biosynthetic protein transport and retrograde Golgi-to-ER transport of dilysine-tagged proteins [UniProt]. The complex requires ARF proteins for membrane recruitment and influences Golgi structural integrity and LDL receptor recycling [UniProt]. Genomically, COPG2 is located on chromosome 7 within an imprinted domain. While some studies report partial imprinting in mouse tissues, human COPG2 demonstrates predominantly biallelic expression in fetal tissues and adult lymphocytes, thus escaping genomic imprinting despite residing adjacent to the paternally imprinted MEST gene 1. Notably, COPG2 expression is downregulated in human cortex compared to other primates, suggesting a role in human brain development 2. Tissue-specific alternative polyadenylation at the MEST locus can regulate allelic usage at COPG2 in the developing central nervous system through transcriptional interference 3. Clinically, COPG2 has emerged as relevant to Alzheimer's disease, where genome-wide association analysis identified COPG2 as significantly associated with the amyloid-β42/Aβ40 ratio in case-only analyses 4. Despite its chr7 location within an autism susceptibility region (7q32), mutation screening and association studies provided no evidence for an etiological role in autism 5.

Sources cited
1
COPG2 is associated with amyloid-β42/Aβ40 ratio in Alzheimer's disease case-only genome-wide association analysis
PMID: 35383826
2
COPG2 expression is specifically downregulated in human cortex compared to chimpanzee and other primates, supporting a role in human social brain development
PMID: 22456293
3
COPG2 demonstrates biallelic expression in human fetal tissues and adult lymphocytes, escaping genomic imprinting despite being adjacent to imprinted MEST gene
PMID: 10995575
4
Tissue-specific alternative polyadenylation at MEST locus regulates allelic usage at COPG2 in developing central nervous system through transcriptional interference
PMID: 22053079
5
Mutation screening and association studies found no evidence for COPG2 etiological role in autism despite its location in autism susceptibility locus 7q32
PMID: 11920156
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.43Moderate
Alzheimer diseaseOpen Targets
0.25Weak
lysosomal storage diseaseOpen Targets
0.25Weak
multiple sclerosisOpen Targets
0.25Weak
neurodegenerative diseaseOpen Targets
0.25Weak
Parkinson diseaseOpen Targets
0.25Weak
skin neoplasmOpen Targets
0.19Weak
osteoarthritis, kneeOpen Targets
0.13Weak
tonsillitisOpen Targets
0.13Weak
medical procedureOpen Targets
0.12Weak
basal cell carcinomaOpen Targets
0.04Suggestive
colorectal cancerOpen Targets
0.04Suggestive
goutOpen Targets
0.03Suggestive
pancreatic carcinomaOpen Targets
0.03Suggestive
breast carcinomaOpen Targets
0.03Suggestive
urinary system diseaseOpen Targets
0.03Suggestive
skin cancerOpen Targets
0.03Suggestive
placental retentionOpen Targets
0.03Suggestive
spinal cord injuryOpen Targets
0.03Suggestive
non-melanoma skin carcinomaOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GBF1Protein interaction100%TMED10Protein interaction100%TMED3Protein interaction100%ARFGAP3Protein interaction100%ARF1Protein interaction99%ARFGAP2Protein interaction96%
Tissue Expression6 tissues
Brain
100%
Ovary
57%
Heart
47%
Bone Marrow
38%
Lung
22%
Liver
12%
Gene Interaction Network
Click a node to explore
COPG2GBF1TMED10TMED3ARFGAP3ARF1ARFGAP2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9UBF2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.13LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.63 [0.37–1.13]
RankingsWhere COPG2 stands among ~20K protein-coding genes
  • #3,454of 20,598
    Most Researched134 · top quartile
  • #11,698of 17,882
    Most Constrained (LOEUF)1.13
Genes detectedCOPG2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Plasma biomarkers and genetics in the diagnosis and prediction of Alzheimer's disease.
PMID: 35383826
Brain · 2023
1.00
2
Methylation and expression analyses of the 7q autism susceptibility locus genes MEST , COPG2, and TSGA14 in human and anthropoid primate cortices.
PMID: 22456293
Cytogenet Genome Res · 2012
0.90
3
Mit1/Lb9 and Copg2, new members of mouse imprinted genes closely linked to Peg1/Mest(1).
PMID: 10788617
FEBS Lett · 2000
0.80
4
The COPG2, DCN, and SDHD genes are biallelically expressed in cattle.
PMID: 16151700
Mamm Genome · 2005
0.70
5
Molecular cloning and characterization of the Fugu rubripes MEST/COPG2 imprinting cluster and chromosomal localization in Fugu and Tetraodon nigroviridis.
PMID: 11032317
Chromosome Res · 2000
0.60