COG2 Chromosome 1
Component of oligomeric golgi complex 2
Upload your DNA to see your personal genotypes for variants in COG2.
What This Gene Does
This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi complex. The encoded protein specifically interacts with the USO1 vesicle docking protein and may be necessary for normal Golgi ribbon formation and trafficking of Golgi enzymes. Mutations of this gene are associated with abnormal glycosylation within the Golgi apparatus. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]
Gene Info
Gene Group
Components of oligomeric golgi complex
Locus Type
gene with protein product
Location
1q42.2
Ensembl
ENSG00000135775
Associated Conditions (4)
Congenital disorder of glycosylation
type IIq
COG2-related disorder
See cases
Key Variants
RS139595158
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation, type IIq, Congenital disorder of glycosylation
Health Risk
RS149248784
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation, type IIq, Congenital disorder of glycosylation
Health Risk
RS201791868
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation, type IIq, COG2-related disorder
Health Risk
RS570696606
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation, type IIq, Congenital disorder of glycosylation
Health Risk
RS1662986310
Likely pathogenic
Congenital disorder of glycosylation, type IIq, Congenital disorder of glycosylation
Health Risk
RS2102736333
Likely pathogenic
See cases, See cases
Health Risk
RS1031719032
Pathogenic
Congenital disorder of glycosylation, type IIq, Congenital disorder of glycosylation
Health Risk
RS2527612631
Pathogenic
Congenital disorder of glycosylation, type IIq, Congenital disorder of glycosylation
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139595158 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation, type IIq, Congenital disorder of glycosylation |
| RS149248784 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation, type IIq, Congenital disorder of glycosylation |
| RS201791868 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation, type IIq, COG2-related disorder |
| RS570696606 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation, type IIq, Congenital disorder of glycosylation |
| RS1662986310 | Health Risk | Likely pathogenic | Congenital disorder of glycosylation, type IIq, Congenital disorder of glycosylation |
| RS2102736333 | Health Risk | Likely pathogenic | See cases, See cases |
| RS1031719032 | Health Risk | Pathogenic | Congenital disorder of glycosylation, type IIq, Congenital disorder of glycosylation |
| RS2527612631 | Health Risk | Pathogenic | Congenital disorder of glycosylation, type IIq, Congenital disorder of glycosylation |