COG8 Gene - Component of Oligomeric Golgi Complex 8
Essential subunit of the conserved oligomeric Golgi complex involved in intra-Golgi trafficking and glycosylation
Gene Information Card
| Symbol | COG8 |
|---|---|
| Full Name | Component of Oligomeric Golgi Complex 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 84342 ncbi.nlm.nih.gov/gene/84342 |
| Ensembl ID | ENSG00000103174 |
| UniProt ID | Q96MW5 |
| OMIM ID | 606979 |
| HGNC ID | 18623 |
| Aliases | CDG2H, DOR1, FLJ12618, GOLGAS8, SEC8 |
Description
COG8 encodes a subunit of the conserved oligomeric Golgi (COG) complex, an eight-subunit tethering complex that regulates intra-Golgi vesicle trafficking and protein glycosylation. Mutations in COG8 cause congenital disorder of glycosylation type IIh (CDG IIh), 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 IIh (CDG IIh) | Loss-of-function mutations in COG8 disrupt COG complex assembly, impairing Golgi trafficking and N-glycosylation | OMIM #611182; ClinVar pathogenic variants |
| Intellectual disability | Impaired glycosylation of neuronal proteins due to COG8 deficiency | Case reports in CDG IIh patients (OMIM) |
| Microcephaly | Associated with COG8 mutations in CDG IIh | OMIM #611182 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 10.2 | Medium |
| Kidney | 9.8 | Medium |
| Heart | 8.1 | Low |
| Lung | 7.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.4 | High expression in embryonic kidney cells |
| HeLa | 12.1 | Moderate expression in cervical cancer cells |
| K562 | 9.6 | Moderate expression in leukemia cells |
| HepG2 | 8.9 | Moderate expression in liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1715G>A (p.Arg572Gln) | Missense | Rare | Loss of COG complex stability; associated with CDG IIh |
| c.1649_1650delAG (p.Glu550ValfsTer2) | Frameshift | Rare | Premature truncation; loss of function |
| c.1A>G (p.Met1Val) | Start loss | Rare | No protein translation; null allele |
Mutation functional classification
Loss of Function (LOF)
Most COG8 mutations are loss-of-function, leading to COG complex instability and defective Golgi trafficking (CDG IIh).
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• COG complex-mediated vesicle tethering (Reactome R-HSA-6811434)
• N-glycan trimming and processing (Reactome R-HSA-446203)
Protein Summary
COG8 is a 601-amino-acid protein (UniProt Q96MW5) that localizes to the Golgi membrane as part of the COG complex. It interacts with other COG subunits (especially COG4 and COG5) to tether vesicles and maintain Golgi architecture. Defects in COG8 cause mislocalization of Golgi enzymes and aberrant glycosylation.
Related Services
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|---|---|---|---|---|
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