HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
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.
COG1
component of oligomeric golgi complex 1
Chromosome 17 Β· 17q25.1
NCBI Gene: 9382Ensembl: ENSG00000166685.14HGNC: HGNC:6545UniProt: Q8WTW3
56PubMed Papers
21Diseases
0Drugs
20Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingretrograde transport, vesicle recycling within GolgiGolgi organizationCOG complexCOG1-congenital disorder of glycosylationcongenital disorder of glycosylationdengue diseaseneurodegenerative disease
✦AI Summary

COG1 is a core subunit of the conserved oligomeric Golgi (COG) complex, an eight-subunit peripheral membrane protein complex essential for Golgi apparatus function 1. COG1 belongs to Lobe A (Cog1-4) of the complex and is required for retrograde vesicle tethering within intra-Golgi trafficking 12. The complex orchestrates protein and lipid glycosylation and protein sorting by controlling retrograde vesicular transport and maintaining normal Golgi morphology and structure 34. COG1 localizes primarily to cisternae tips, rims, and associated vesicles throughout the Golgi apparatus 4. Loss of COG1 function causes congenital disorder of glycosylation type 2G (COG1-CDG), a rare inherited disorder characterized by severe defects in N- and O-glycosylation and Golgi retrograde trafficking 52. Reported COG1-CDG patients present with neonatal seizures, dysmorphism, hepatitis, and abnormal serum transferrin isoforms 5. COG1 mutations also contribute to cardiac manifestations through disrupted carbohydrate metabolism, as COG1 is identified among 29 congenital glycosylation disorder genes associated with cardiomyopathies and cardiac defects 6. COG1 deficiency results in mislocalization or degradation of Golgi glycosyltransferases and glycosidases, causing multi-systemic disease 12.

Sources cited
1
COG1 identified among 29 congenital disorders of glycosylation genes associated with cardiac manifestations and cardiomyopathies
PMID: 37239976
2
COG1-CDG clinical presentation includes neonatal seizures, dysmorphism, hepatitis, and abnormal transferrin isoelectrofocusing
PMID: 33960418
3
COG complex is involved in retrograde vesicular Golgi trafficking and glycosyltransferase localization
PMID: 19028570
4
COG complex is essential for Golgi functions including protein and lipid glycosylation and protein sorting; COG defects cause CDG type II
PMID: 29063274
5
COG1 is part of Lobe A (Cog1-4); COG complex acts as retrograde vesicle tethering factor; COG1 mutations in humans cause congenital disorders of glycosylation; COG down-regulation causes mislocalization or degradation of Golgi glycosyltransferases/glycosidases
PMID: 18353293
6
COG complex controls retrograde vesicle traffic within Golgi; COG deficiencies result in glycosylation defects, Golgi morphological abnormalities, and defective protein secretion; COG mutations lead to COG-CDG
PMID: 32730773
7
COG1 is a peripheral Golgi protein involved in membrane trafficking and glycoconjugate synthesis; COG1 participates in retrograde vesicular transport and maintains normal Golgi structure and function; COG1 localizes to cisternae tips, rims, and associated vesicles
PMID: 16857184
Disease Associationsβ“˜21
COG1-congenital disorder of glycosylationOpen Targets
0.79Strong
congenital disorder of glycosylationOpen Targets
0.41Moderate
dengue diseaseOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.37Weak
genetic disorderOpen Targets
0.19Weak
Familial prostate cancerOpen Targets
0.14Weak
prostate cancerOpen Targets
0.14Weak
nephrotic syndromeOpen Targets
0.11Weak
metabolic syndromeOpen Targets
0.07Suggestive
smoking initiationOpen Targets
0.04Suggestive
Pancreatic pseudocystOpen Targets
0.02Suggestive
Dupuytren ContractureOpen Targets
0.02Suggestive
joint diseaseOpen Targets
0.02Suggestive
response to stimulusOpen Targets
0.02Suggestive
pneumonitisOpen Targets
0.02Suggestive
gram-negative bacterial infectionsOpen Targets
0.02Suggestive
central nervous system cancerOpen Targets
0.02Suggestive
esophageal squamous cell carcinomaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
Intellectual disabilityOpen Targets
0.01Suggestive
Congenital disorder of glycosylation 2GUniProt
Pathogenic Variants20
NM_018714.3(COG1):c.2665dup (p.Arg889fs)Pathogenic
COG1 congenital disorder of glycosylation|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 889
NM_018714.3(COG1):c.1428G>A (p.Trp476Ter)Pathogenic
COG1 congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2022β†’ Residue 476
NM_018714.3(COG1):c.1717C>T (p.Gln573Ter)Pathogenic
COG1 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2025β†’ Residue 573
NM_018714.3(COG1):c.1487del (p.Gly496fs)Pathogenic
COG1 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2025β†’ Residue 496
NM_018714.3(COG1):c.2626_2629dup (p.Gly877fs)Pathogenic
COG1 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2025β†’ Residue 877
NM_018714.3(COG1):c.934C>T (p.Gln312Ter)Pathogenic
COG1 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2025β†’ Residue 312
NM_018714.3(COG1):c.415C>T (p.Gln139Ter)Pathogenic
COG1 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2025β†’ Residue 139
NM_018714.3(COG1):c.2665_2666insCG (p.Arg889fs)Pathogenic
COG1 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2025β†’ Residue 889
NM_018714.3(COG1):c.561-1G>ALikely pathogenic
COG1 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2025
NM_018714.3(COG1):c.1401dup (p.Glu468Ter)Pathogenic
COG1 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2025β†’ Residue 468
NM_018714.3(COG1):c.2665del (p.Arg889fs)Pathogenic
COG1 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2024β†’ Residue 889
NM_018714.3(COG1):c.2686C>T (p.Gln896Ter)Pathogenic
COG1 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2024β†’ Residue 896
NM_018714.3(COG1):c.1091del (p.Asn364fs)Pathogenic
COG1 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2023β†’ Residue 364
NM_018714.3(COG1):c.148C>T (p.Gln50Ter)Pathogenic
COG1 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2023β†’ Residue 50
NM_018714.3(COG1):c.1006C>T (p.Arg336Ter)Pathogenic
COG1 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2023β†’ Residue 336
NM_018714.3(COG1):c.1130del (p.Lys377fs)Pathogenic
COG1 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2023β†’ Residue 377
NM_018714.3(COG1):c.254dup (p.Tyr86fs)Pathogenic
COG1 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2022β†’ Residue 86
NM_018714.3(COG1):c.1070+5G>APathogenic
COG1 congenital disorder of glycosylation|Nephrotic syndrome
β˜…β˜†β˜†β˜†2022
NM_018714.3(COG1):c.1823del (p.Leu608fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 608
NM_018714.3(COG1):c.2084_2085insCCTGGTAATAAAATGAC (p.His695_Gly696insLeuValIleLysTer)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 695
View on ClinVar β†—
Related Genes
GOSR2Protein interaction100%YKT6Protein interaction100%VTI1AProtein interaction98%VPS53Protein interaction93%TGOLN2Protein interaction91%COG5Protein interaction90%
Tissue Expression6 tissues
Brain
100%
Heart
89%
Ovary
87%
Bone Marrow
66%
Lung
59%
Liver
56%
Gene Interaction Network
Click a node to explore
COG1GOSR2YKT6VTI1AVPS53TGOLN2COG5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8WTW3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.72LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.58 [0.47–0.72]
RankingsWhere COG1 stands among ~20K protein-coding genes
  • #8,052of 20,598
    Most Researched56
  • #2,198of 5,498
    Most Pathogenic Variants20
  • #5,525of 17,882
    Most Constrained (LOEUF)0.72
Genes detectedCOG1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.
PMID: 37239976
Int J Mol Sci Β· 2023
1.00
2
COG1-congenital disorders of glycosylation: Milder presentation and review.
PMID: 33960418
Clin Genet Β· 2021
0.90
3
PMID: 20301507
0.80
4
The Mini-Cog: A Community Screening Tool for Dementia in Indonesia.
PMID: 39681548
Int J Geriatr Psychiatry Β· 2024
0.70
5
COG defects, birth and rise!
PMID: 19028570
Biochim Biophys Acta Β· 2009
0.60