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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
COG8
component of oligomeric golgi complex 8
Chromosome 16 Β· 16q22.1
NCBI Gene: 84342Ensembl: ENSG00000213380.16HGNC: HGNC:18623UniProt: H3BQV3
43PubMed Papers
21Diseases
0Drugs
17Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingretrograde transport, vesicle recycling within GolgiGolgi organizationGolgi apparatusCOG8-congenital disorder of glycosylationneurodegenerative diseasecongenital disorder of glycosylationAlzheimer disease
✦AI Summary

COG8 is a subunit of the conserved oligomeric Golgi (COG) complex, an eight-protein cytosolic tethering complex essential for retrograde vesicular trafficking and Golgi organization 1. COG8 is required for normal Golgi function and plays a critical role in intra-Golgi vesicle-mediated transport and retrograde transport from the endosome to the trans-Golgi network 2. Mechanistically, COG8 integrity is necessary for assembly of both the COG complex itself and Golgi SNARE complexes, which mediate vesicle tethering and fusion 3. COG8 deficiency disrupts glycosyltransferase localization and sialylation, leading to congenital disorder of glycosylation type IIh (CDG-IIh), characterized by severe psychomotor retardation, seizures, and failure to thrive 4. Additionally, alcohol-related DNA methylation at COG8 regulatory regions shows causal association with psychiatric disorders through altered COG8 brain expression 5. Recent evidence indicates COG8 is critical for influenza virus infection, as COG8 knockout enhances cellular antiviral resistance by blocking early endosome trafficking and enhancing immune responses 2. A TMED6-COG8 fusion protein serves as a molecular marker for TFE3 translocation renal cell carcinoma 6. Understanding COG8 function is clinically relevant for developing therapeutic strategies targeting both glycosylation disorders and viral infections.

Sources cited
1
COG complex contains 8 subunits involved in retrograde vesicular Golgi trafficking and glycosyltransferase localization
PMID: 19028570
2
COG8 regulates retrograde transport from endosome to trans-Golgi network and is essential for influenza virus infection
PMID: 34935491
3
COG8 is required for assembly of COG complex and Golgi SNARE complexes essential for vesicle tethering
PMID: 23865579
4
COG8 mutations cause CDG-IIh with severe sialylation deficiency, psychomotor retardation, and seizures
PMID: 17331980
5
Alcohol-related DNA methylation at COG8 regulatory sites causally associates with psychiatric disorders through altered brain expression
PMID: 38523595
6
TMED6-COG8 fusion protein serves as molecular marker for TFE3 translocation renal cell carcinoma
PMID: 26045774
7
COG8 and PDF genes overlap in primates with shared 3' ends mediated by splicing and polyadenylation signal changes
PMID: 21805148
Disease Associationsβ“˜21
COG8-congenital disorder of glycosylationOpen Targets
0.78Strong
neurodegenerative diseaseOpen Targets
0.43Moderate
congenital disorder of glycosylationOpen Targets
0.41Moderate
Alzheimer diseaseOpen Targets
0.39Weak
lysosomal storage diseaseOpen Targets
0.39Weak
multiple sclerosisOpen Targets
0.39Weak
Parkinson diseaseOpen Targets
0.39Weak
genetic disorderOpen Targets
0.19Weak
cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndromeOpen Targets
0.15Weak
Crigler-Najjar syndrome type 2Open Targets
0.04Suggestive
transient familial neonatal hyperbilirubinemiaOpen Targets
0.04Suggestive
lower respiratory tract diseaseOpen Targets
0.03Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.02Suggestive
renal cell carcinomaOpen Targets
0.02Suggestive
dermatomyositisOpen Targets
0.02Suggestive
AnxietyOpen Targets
0.02Suggestive
influenzaOpen Targets
0.01Suggestive
cerebrotendinous xanthomatosisOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
treatment resistant depressionOpen Targets
0.00Suggestive
Congenital disorder of glycosylation 2HUniProt
Pathogenic Variants17
NM_032382.5(COG8):c.1396del (p.Glu466fs)Likely pathogenic
not provided|COG8-congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2025β†’ Residue 466
NM_032382.5(COG8):c.1680_1681del (p.Glu560fs)Pathogenic
COG8-congenital disorder of glycosylation|not provided|COG8-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 560
NM_032382.5(COG8):c.1687_1688del (p.Phe563fs)Likely pathogenic
COG8-congenital disorder of glycosylation|COG8-related disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 563
NM_032382.5(COG8):c.1583-1G>APathogenic
COG8-congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2020
NM_032382.5(COG8):c.1027del (p.Asp343fs)Pathogenic
COG8-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2025β†’ Residue 343
NM_032382.5(COG8):c.1033_1034del (p.Leu345fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 345
NM_032382.5(COG8):c.547C>T (p.Arg183Ter)Likely pathogenic
COG8-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 183
NM_032382.5(COG8):c.1582+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_032382.5(COG8):c.513T>G (p.Tyr171Ter)Likely pathogenic
COG8-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2022β†’ Residue 171
NM_032382.5(COG8):c.585+1G>TLikely pathogenic
COG8-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2022
NM_032382.5(COG8):c.1550_1556del (p.Leu517fs)Pathogenic
COG8-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2021β†’ Residue 517
NM_032382.5(COG8):c.973C>T (p.Gln325Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 325
NM_032382.5(COG8):c.1364_1371del (p.Val455fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 455
NM_032382.5(COG8):c.1580T>G (p.Leu527Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2016β†’ Residue 527
NM_032382.5(COG8):c.317_327dup (p.Ser110fs)Likely pathogenic
COG8-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†β†’ Residue 110
NM_032382.5(COG8):c.1413+1G>APathogenic
COG8-congenital disorder of glycosylation
β˜†β˜†β˜†β˜†2007
NM_032382.5(COG8):c.1611C>G (p.Tyr537Ter)Pathogenic
COG8-congenital disorder of glycosylation
β˜†β˜†β˜†β˜†2007β†’ Residue 537
View on ClinVar β†—
Related Genes
VSIG2Protein interaction100%RIC1Protein interaction100%YKT6Protein interaction100%VTI1AProtein interaction98%COG5Protein interaction91%COG6Protein interaction91%
Tissue Expression6 tissues
Brain
100%
Liver
78%
Ovary
52%
Heart
46%
Lung
42%
Bone Marrow
20%
Gene Interaction Network
Click a node to explore
COG8VSIG2RIC1YKT6VTI1ACOG5COG6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96MW5
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.26LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.98 [0.77–1.26]
RankingsWhere COG8 stands among ~20K protein-coding genes
  • #9,707of 20,598
    Most Researched43
  • #2,360of 5,498
    Most Pathogenic Variants17
  • #13,258of 17,882
    Most Constrained (LOEUF)1.26
Genes detectedCOG8
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PMID: 20301507
1.00
2
Successful COG8 and PDF overlap is mediated by alterations in splicing and polyadenylation signals.
PMID: 21805148
Hum Genet Β· 2012
0.90
3
Alcohol drinking, DNA methylation and psychiatric disorders: A multi-omics Mendelian randomization study to investigate causal pathways.
PMID: 38523595
Addiction Β· 2024
0.80
4
COG defects, birth and rise!
PMID: 19028570
Biochim Biophys Acta Β· 2009
0.70
5
Porcine Genome-Wide CRISPR Screen Identifies the Golgi Apparatus Complex Protein COG8 as a Pivotal Regulator of Influenza Virus Infection.
PMID: 34935491
CRISPR J Β· 2021
0.60