COG6: A Key Subunit of the Conserved Oligomeric Golgi Complex
Essential for Golgi Trafficking and Associated with Congenital Disorders of Glycosylation
Gene Information Card
| Symbol | COG6 |
|---|---|
| Full Name | Component of Oligomeric Golgi Complex 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q14.11 |
| NCBI Gene ID | 57511 ncbi.nlm.nih.gov/gene/57511 |
| Ensembl ID | ENSG00000133103 |
| UniProt ID | Q9Y2V7 |
| OMIM ID | 606977 |
| HGNC ID | 18621 |
| Aliases | COD2, KIAA1134, CDG2L |
Description
The COG6 gene encodes a subunit of the conserved oligomeric Golgi (COG) complex, a tethering complex essential for intra-Golgi vesicle trafficking and Golgi homeostasis. COG6 is part of the lobe B subcomplex (COG5-8) and is critical for retrograde vesicle transport within the Golgi apparatus. Mutations in COG6 cause congenital disorders of glycosylation type II (CDG II), characterized by multisystem abnormalities including neurological impairment, growth retardation, and dysmorphic features.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation type II (CDG2L) | Loss-of-function mutations in COG6 disrupt Golgi trafficking, leading to defective protein glycosylation and multisystem pathology. | OMIM #614576; ClinVar; PMID: 22492992 |
| Intellectual disability | Impaired Golgi function due to COG6 deficiency affects neuronal development and synaptic function. | ClinVar; PMID: 22492992 |
| Microcephaly | Reduced brain growth associated with glycosylation defects from COG6 mutations. | ClinVar; PMID: 22492992 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.5 | Medium |
| Liver | 6.2 | Low |
| Kidney | 7.1 | Medium |
| Testis | 9.8 | Medium |
| Lung | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | High expression in embryonic kidney cells |
| HeLa | 8.9 | Moderate expression in cervical cancer cells |
| K562 | 6.5 | Low expression in leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.511C>T (p.Arg171Trp) | Missense | Rare | Loss of function; disrupts COG complex assembly |
| c.1646G>A (p.Arg549Gln) | Missense | Rare | Loss of function; impairs Golgi trafficking |
| c.511C>T (p.Arg171Trp) | Missense | Rare | Loss of function; associated with CDG type II |
Mutation functional classification
Loss of Function (LOF)
Most COG6 mutations are loss-of-function, leading to reduced COG complex stability and impaired retrograde Golgi transport.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • Golgi vesicle transport (GO:0048193) | • Intra-Golgi vesicle-mediated transport (GO:0006891) |
| • Protein glycosylation (GO:0006486) | • COG complex (GO:0017119) |
| • Golgi membrane (GO:0000139) |
Pathways
• Intra-Golgi retrograde transport (Reactome: R-HSA-6811442)
• COG complex-dependent vesicle tethering (Reactome: R-HSA-6811438)
Protein Summary
COG6 is a 657-amino acid protein (UniProt Q9Y2V7) that localizes to the Golgi membrane as part of the lobe B subcomplex of the COG tethering complex. It interacts with COG5, COG7, and COG8 to facilitate retrograde vesicle docking and fusion. Defects in COG6 cause mislocalization of Golgi enzymes and abnormal N- and O-glycosylation, underlying the pathophysiology of CDG type II.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COG6 Knockout HEK293 Cell Line | EDJ-KQ3421 | Human | 57511 | Details Get a Quote |
| COG6 Knockout A-549 Cell Line | EDJ-KQ25136 | Human | 57511 | Details Get a Quote |
| COG6 Knockout HeLa Cell Line | EDJ-KQ25137 | Human | 57511 | Details Get a Quote |
| COG6 Knockout HCT 116 Cell Line | EDJ-KQ23751 | Human | 57511 | Details Get a Quote |
