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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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COG3
component of oligomeric golgi complex 3
Chromosome 13 · 13q14.13
NCBI Gene: 83548Ensembl: ENSG00000136152.16HGNC: HGNC:18619UniProt: Q96JB2
60PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingGolgi organizationglycoprotein biosynthetic processprotein localization to organelleneurodegenerative diseasecongenital disorder of glycosylation, type IIbbrubellaearly-onset non-syndromic cataract
✦AI Summary

COG3 is a subunit of the conserved oligomeric Golgi (COG) complex, a multi-protein tethering machinery essential for intracellular protein trafficking 1. COG3 primarily functions in retrograde (Golgi-to-ER) vesicular transport and intra-Golgi trafficking 2, working alongside other COG subunits to mediate the recycling of Golgi glycosyltransferases back to the medial-Golgi compartment 1. The COG3 subunit is critical for maintaining proper localization and function of these enzymes during the secretory pathway 1. COG3 dysfunction causes congenital disorder of glycosylation type 2BB (COG3-CDG), a rare autosomal recessive condition characterized by impaired retrograde trafficking 2. Affected individuals present with global developmental delay, severe intellectual disability, microcephaly, epilepsy, and facial dysmorphism, with biochemical evidence showing reduced sialic acid on serum transferrin and decreased COG3/COG4 protein levels 2. Mechanistically, COG3 mutations lead to delayed retrograde recycling of vesicles in patient fibroblasts, disrupting the coordinated trafficking of glycosyltransferases from distal Golgi compartments 12. This separation of glycosyltransferases from anterograde cargo molecules results in abnormal protein glycosylation, the hallmark of this CDG subtype. Additionally, COG3 has been identified as a host factor involved in SARS-CoV-2 replication, suggesting broader roles in viral pathogenesis 3.

Sources cited
1
Biallelic COG3 variants cause congenital disorder of glycosylation with impaired retrograde vesicular trafficking, presenting with developmental delay, intellectual disability, microcephaly, and epilepsy
PMID: 37711075
2
COG3 is essential for recycling of medial-Golgi glycosyltransferases; COG3 knockdown causes accumulation of COG-dependent vesicles and distorted glycosylation of plasma membrane and lysosomal proteins
PMID: 16420527
3
COG3 is identified as a host factor critical for SARS-CoV-2 replication in genome-wide CRISPR screening studies
PMID: 34914966
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ21
neurodegenerative diseaseOpen Targets
0.53Moderate
congenital disorder of glycosylation, type IIbbOpen Targets
0.34Weak
rubellaOpen Targets
0.24Weak
early-onset non-syndromic cataractOpen Targets
0.07Suggestive
Total congenital cataractOpen Targets
0.06Suggestive
Cataract-microcornea syndromeOpen Targets
0.06Suggestive
hyperinsulinism due to INSR deficiencyOpen Targets
0.06Suggestive
Partial congenital cataractOpen Targets
0.06Suggestive
Cataract with Y-shaped suture opacitiesOpen Targets
0.06Suggestive
isolated ectopia lentisOpen Targets
0.06Suggestive
early-onset nuclear cataractOpen Targets
0.06Suggestive
early-onset zonular cataractOpen Targets
0.05Suggestive
Posterior polar cataractOpen Targets
0.05Suggestive
islet cell adenomatosisOpen Targets
0.05Suggestive
Familial ocular anterior segment mesenchymal dysgenesisOpen Targets
0.05Suggestive
Juvenile cataract - microcornea - renal glucosuriaOpen Targets
0.05Suggestive
juvenile cataract-microcornea-renal glucosuria syndromeOpen Targets
0.05Suggestive
exercise-induced hyperinsulinismOpen Targets
0.05Suggestive
cataract 35Open Targets
0.05Suggestive
hereditary hyperferritinemia with congenital cataractsOpen Targets
0.05Suggestive
Congenital disorder of glycosylation 2BBUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
YKT6Protein interaction100%VTI1AProtein interaction98%STX6Protein interaction95%RINT1Protein interaction93%GOLGA1Protein interaction89%GOLGB1Protein interaction89%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
66%
Heart
53%
Ovary
51%
Lung
40%
Brain
23%
Gene Interaction Network
Click a node to explore
COG3YKT6VTI1ASTX6RINT1GOLGA1GOLGB1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96JB2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.31Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.19 [0.12–0.31]
RankingsWhere COG3 stands among ~20K protein-coding genes
  • #7,644of 20,598
    Most Researched60
  • #1,249of 17,882
    Most Constrained (LOEUF)0.31 · top 10%
Genes detectedCOG3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
PMID: 37711075
J Inherit Metab Dis · 2023
1.00
2
Tumor Targeting
PMID: 38243930
Microrna · 2024
0.90
3
The Mini-Cog: A Community Screening Tool for Dementia in Indonesia.
PMID: 39681548
Int J Geriatr Psychiatry · 2024
0.80
4
Where all the Roads Meet? A Crossover Perspective on Host Factors Regulating SARS-CoV-2 infection.
PMID: 34914966
J Mol Biol · 2022
0.70
5
Rapid cognitive assessment: Accuracy and discriminant validity of Mini-Cog and process-based Clock Drawing Test.
PMID: 39967041
J Alzheimers Dis · 2025
0.60