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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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COG2
component of oligomeric golgi complex 2
Chromosome 1 Β· 1q42.2
NCBI Gene: 22796Ensembl: ENSG00000135775.15HGNC: HGNC:6546UniProt: B1ALW7
53PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingCOG complexretrograde transport, vesicle recycling within Golgiintra-Golgi vesicle-mediated transportcongenital disorder of glycosylation, type IIqneurodegenerative diseasecongenital disorder of glycosylation type IIspinal cord disease
✦AI Summary

COG2 (component of oligomeric Golgi complex 2) is a subunit of the conserved oligomeric Golgi (COG) complex, a multi-subunit vesicle tethering complex essential for Golgi apparatus structure and function 1. COG2 functions as part of the COG complex, which mediates retrograde vesicular trafficking within the Golgi apparatus and is required for normal Golgi morphology 2. The complex plays critical roles in protein and lipid glycosylation and protein sorting 3. Structurally, COG2 is incorporated into the complex through direct interactions with COG1, COG3, and COG4, which serves as a core organizational component 4. COG2 mutations cause congenital disorder of glycosylation type 2Q (CDG-2Q), a severe genetic disorder characterized by defects in glycoprotein sialylation and galactosylation 5. Patients with COG2 mutations present with microcephaly, psychomotor retardation, seizures, liver dysfunction, and copper metabolism abnormalities 5. The disease mechanism involves impaired retrograde trafficking of Golgi resident proteins, disrupting normal Golgi structure and glycosylation capacity 2. Understanding COG2 function is clinically significant as it explains how COG complex defects cause congenital glycosylation disorders affecting multiple organ systems.

Sources cited
1
COG2 is a subunit of the conserved oligomeric Golgi complex required for normal Golgi morphology and function
PMID: 11980916
2
COG complex is essential for Golgi structure and retrograde vesicular trafficking; mutations cause congenital disorders of glycosylation
PMID: 16406524
3
COG complex is essential for Golgi apparatus functions including protein and lipid glycosylation and protein sorting
PMID: 29063274
4
COG2 directly interacts with COG1, COG3, and COG4 within the complex assembly network
PMID: 15047703
5
Mutations in COG2 cause congenital disorder of glycosylation with defects in sialylation and galactosylation, causing microcephaly, psychomotor retardation, seizures, and liver dysfunction
PMID: 24784932
Disease Associationsβ“˜21
congenital disorder of glycosylation, type IIqOpen Targets
0.66Moderate
neurodegenerative diseaseOpen Targets
0.47Moderate
congenital disorder of glycosylation type IIOpen Targets
0.46Moderate
spinal cord diseaseOpen Targets
0.27Weak
polycystic ovary syndromeOpen Targets
0.25Weak
smoking initiationOpen Targets
0.25Weak
hypertensionOpen Targets
0.20Weak
Increased blood pressureOpen Targets
0.17Weak
cardiovascular diseaseOpen Targets
0.16Weak
essential hypertensionOpen Targets
0.09Suggestive
tooth diseaseOpen Targets
0.07Suggestive
atrial fibrillationOpen Targets
0.06Suggestive
coronary artery diseaseOpen Targets
0.06Suggestive
cholelithiasisOpen Targets
0.02Suggestive
heart failureOpen Targets
0.02Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.02Suggestive
cancerOpen Targets
0.01Suggestive
acute myeloid leukemiaOpen Targets
0.01Suggestive
metabolic syndromeOpen Targets
0.01Suggestive
atherosclerosisOpen Targets
0.01Suggestive
Congenital disorder of glycosylation 2QUniProt
Pathogenic Variants7
NM_007357.3(COG2):c.1509del (p.Lys503fs)Pathogenic
Congenital disorder of glycosylation, type IIq
β˜…β˜†β˜†β˜†2025β†’ Residue 503
NM_007357.3(COG2):c.1279AGG[1] (p.Arg428del)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 428
NM_007357.3(COG2):c.523delinsCAGGCCCATACAGGTGCAATGGTTTTCTGGAGCACCTGTATGCTC (p.Thr175fs)Pathogenic
Congenital disorder of glycosylation, type IIq
β˜…β˜†β˜†β˜†2024β†’ Residue 175
NM_007357.3(COG2):c.260del (p.Gln87fs)Pathogenic
Congenital disorder of glycosylation, type IIq
β˜…β˜†β˜†β˜†2022β†’ Residue 87
NM_007357.3(COG2):c.48C>A (p.Cys16Ter)Likely pathogenic
See cases
β˜…β˜†β˜†β˜†2020β†’ Residue 16
NM_007357.3(COG2):c.1855C>T (p.Gln619Ter)Likely pathogenic
Congenital disorder of glycosylation, type IIq
β˜…β˜†β˜†β˜†2020β†’ Residue 619
NM_007357.3(COG2):c.436dup (p.Ile146fs)Pathogenic
Congenital disorder of glycosylation, type IIq
β˜…β˜†β˜†β˜†2017β†’ Residue 146
View on ClinVar β†—
Related Genes
YKT6Protein interaction100%VTI1AProtein interaction98%COG7Protein interaction96%VPS53Protein interaction93%BET1LProtein interaction92%VPS54Protein interaction88%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
64%
Brain
63%
Lung
60%
Liver
59%
Ovary
56%
Gene Interaction Network
Click a node to explore
COG2YKT6VTI1ACOG7VPS53BET1LVPS54
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q14746
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.72LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.55 [0.42–0.72]
RankingsWhere COG2 stands among ~20K protein-coding genes
  • #8,411of 20,598
    Most Researched53
  • #3,216of 5,498
    Most Pathogenic Variants7
  • #5,606of 17,882
    Most Constrained (LOEUF)0.72
Genes detectedCOG2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PMID: 20301507
1.00
2
Double-alternating injectable multifunctional hydrogel based on chitosan for skin wound repair.
PMID: 39645136
Int J Biol Macromol Β· 2025
0.90
3
The Mini-Cog: A Community Screening Tool for Dementia in Indonesia.
PMID: 39681548
Int J Geriatr Psychiatry Β· 2024
0.80
4
Conserved Oligomeric Golgi and Neuronal Vesicular Trafficking.
PMID: 29063274
Handb Exp Pharmacol Β· 2018
0.70
5
Validation of Candidate Host Cell Entry Factors for Bovine Herpes Virus Type-1 Based on a Genome-Wide CRISPR Knockout Screen.
PMID: 38400072
Viruses Β· 2024
0.60