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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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COG5
component of oligomeric golgi complex 5
Chromosome 7 Β· 7q22.3
NCBI Gene: 10466Ensembl: ENSG00000164597.15HGNC: HGNC:14857UniProt: A0AAA9X096
56PubMed Papers
21Diseases
0Drugs
67Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
inter-Golgi cisterna vesicle-mediated transportprotein bindingretrograde transport, vesicle recycling within GolgiGolgi organizationCOG5-congenital disorder of glycosylationcongenital disorder of glycosylation, type IIyneurodegenerative diseasegenetic disorder
✦AI Summary

COG5 is a subunit of the conserved oligomeric Golgi (COG) complex, an eight-subunit peripheral Golgi protein essential for normal Golgi function and intracellular membrane trafficking 1. COG5 forms a stable subcomplex with COG7 through a conserved CATCHR-fold interface 2, and this interaction is critical for COG complex assembly and function 3. The protein mediates retrograde vesicle transport within the Golgi apparatus and regulates glycoconjugate synthesis, including both N-glycan and O-glycan processing 4. COG5 dysfunction causes congenital disorder of glycosylation type 2I (COG5-CDG), a multisystem disease characterized by intellectual disability, hypotonia, developmental delay, seizures, microcephaly, and sensory defects 5. Pathogenic COG5 variants disrupt protein stability and solubility, impairing COG5-COG7 interaction 3. Recent findings reveal that COG5 extends beyond glycosylation function: COG5 deficiency disrupts cellular copper homeostasis, leading to impaired mitochondrial oxidative phosphorylation, particularly complex I assembly defects, and has been associated with Leigh syndrome 6. COG5 also influences cellular stress responses and senescence through Golgi functional integrity 7. Genome-wide association studies identify COG5 variants associated with sleep duration and pleiotropic effects on cardiovascular and neuropsychiatric traits 8.

Sources cited
1
COG5 is a subunit of the eight-subunit COG complex involved in Golgi-associated membrane trafficking and glycoconjugate synthesis
PMID: 16051600
2
COG5 forms a conserved CATCHR-fold interaction with COG7 that is essential for COG complex function
PMID: 25331899
3
Pathogenic COG5 missense variants alter protein stability and solubility, disrupting COG5-COG7 interaction
PMID: 38987656
4
COG5-CDG presents as a multisystem disease with N-glycan and O-glycan processing defects
PMID: 28444691
5
COG5-CDG patients present with psychomotor delay, ataxia, hypotonia, microcephaly, and sensory abnormalities
PMID: 32174980
6
COG5 deficiency disrupts cellular copper homeostasis and impairs mitochondrial OXPHOS function, including complex I assembly
PMID: 41824529
7
COG5 expression affects Golgi functional integrity and cellular stress responses during senescence
PMID: 37884654
8
COG5 variants associate with sleep duration and pleiotropic effects on cardiovascular and neuropsychiatric traits in genome-wide studies
PMID: 37384397
Disease Associationsβ“˜21
COG5-congenital disorder of glycosylationOpen Targets
0.81Strong
congenital disorder of glycosylation, type IIyOpen Targets
0.56Moderate
neurodegenerative diseaseOpen Targets
0.53Moderate
genetic disorderOpen Targets
0.42Moderate
congenital disorder of glycosylationOpen Targets
0.41Moderate
coronary artery diseaseOpen Targets
0.31Weak
atrial fibrillationOpen Targets
0.28Weak
enteritisOpen Targets
0.28Weak
urinary system diseaseOpen Targets
0.28Weak
smoking initiationOpen Targets
0.28Weak
portal hypertensionOpen Targets
0.26Weak
duodenal ulcerOpen Targets
0.20Weak
Abnormality of the gastrointestinal tractOpen Targets
0.18Weak
insomniaOpen Targets
0.13Weak
craniosynostosisOpen Targets
0.12Weak
response to statinOpen Targets
0.11Weak
dyslexiaOpen Targets
0.09Suggestive
osteoarthritis, kneeOpen Targets
0.08Suggestive
hypertensionOpen Targets
0.04Suggestive
essential hypertensionOpen Targets
0.04Suggestive
Congenital disorder of glycosylation 2IUniProt
Pathogenic Variants67
NM_006348.5(COG5):c.2295+2T>CPathogenic
COG5-congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2026
NM_006348.5(COG5):c.2122C>T (p.Arg708Ter)Pathogenic
COG5-congenital disorder of glycosylation|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 708
NM_006348.5(COG5):c.1381C>T (p.Arg461Ter)Pathogenic
COG5-congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2025β†’ Residue 461
NM_006348.5(COG5):c.96del (p.Cys33Valfs)Pathogenic
not provided|COG5-congenital disorder of glycosylation|COG5-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 33
NM_006348.5(COG5):c.1475+1G>ALikely pathogenic
COG5-congenital disorder of glycosylation|not provided
β˜…β˜…β˜†β˜†2025
NM_006348.5(COG5):c.613C>T (p.Arg205Ter)Pathogenic
COG5-congenital disorder of glycosylation|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 205
NM_006348.5(COG5):c.2068C>T (p.Arg690Ter)Pathogenic
COG5-congenital disorder of glycosylation|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 690
NM_006348.5(COG5):c.847C>T (p.Arg283Ter)Pathogenic
COG5-congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2024β†’ Residue 283
NM_006348.5(COG5):c.611_613delinsTAGTGGAATT (p.Ala204fs)Pathogenic
COG5-congenital disorder of glycosylation|Inborn genetic diseases
β˜…β˜…β˜†β˜†2023β†’ Residue 204
NM_006348.5(COG5):c.1415dup (p.Gly474fs)Pathogenic
COG5-congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2023β†’ Residue 474
NM_006348.5(COG5):c.2T>G (p.Met1Arg)Pathogenic
COG5-congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2022β†’ Residue 1
NM_006348.5(COG5):c.1159del (p.Arg387fs)Pathogenic
COG5-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2026β†’ Residue 387
NM_006348.5(COG5):c.811C>T (p.Gln271Ter)Pathogenic
COG5-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2025β†’ Residue 271
NM_006348.5(COG5):c.669+1G>TLikely pathogenic
COG5-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2025
NM_006348.5(COG5):c.697C>T (p.Gln233Ter)Pathogenic
COG5-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2025β†’ Residue 233
NM_006348.5(COG5):c.1015G>T (p.Glu339Ter)Pathogenic
COG5-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2025β†’ Residue 339
NM_006348.5(COG5):c.1853+1G>TLikely pathogenic
COG5-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2025
NM_006348.5(COG5):c.347+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_006348.5(COG5):c.2234dup (p.Ser746fs)Pathogenic
COG5-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2025β†’ Residue 746
NM_006348.5(COG5):c.328_347+25delinsGCLikely pathogenic
COG5-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2025
View on ClinVar β†—
Related Genes
VPS51Protein interaction100%VPS52Protein interaction100%YKT6Protein interaction100%VTI1AProtein interaction98%COG6Protein interaction92%COG8Protein interaction91%
Tissue Expression6 tissues
Heart
100%
Brain
50%
Bone Marrow
44%
Ovary
40%
Lung
37%
Liver
21%
Gene Interaction Network
Click a node to explore
COG5VPS51VPS52YKT6VTI1ACOG6COG8
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9UP83
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.03LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.83 [0.67–1.03]
RankingsWhere COG5 stands among ~20K protein-coding genes
  • #8,053of 20,598
    Most Researched56
  • #1,091of 5,498
    Most Pathogenic Variants67 Β· top quartile
  • #10,117of 17,882
    Most Constrained (LOEUF)1.03
Genes detectedCOG5
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PMID: 20301507
1.00
2
Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein.
PMID: 38987656
J Hum Genet Β· 2024
0.90
3
MALDI-MS profiling of serum O-glycosylation and N-glycosylation in COG5-CDG.
PMID: 28444691
J Mass Spectrom Β· 2017
0.80
4
Identification of Two Novel Mutations in
PMID: 32174980
Front Genet Β· 2020
0.70
5
Genetic analysis of the subunit organization and function of the conserved oligomeric golgi (COG) complex: studies of COG5- and COG7-deficient mammalian cells.
PMID: 16051600
J Biol Chem Β· 2005
0.60