COG2 Gene - Component of Oligomeric Golgi Complex 2
Essential subunit of the conserved oligomeric Golgi complex involved in intra-Golgi trafficking and glycosylation
Gene Information Card
| Symbol | COG2 |
|---|---|
| Full Name | Component of Oligomeric Golgi Complex 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q42.2 |
| NCBI Gene ID | 22796 ncbi.nlm.nih.gov/gene/22796 |
| Ensembl ID | ENSG00000135773 |
| UniProt ID | Q14746 |
| OMIM ID | 606974 |
| HGNC ID | 6546 |
| Aliases | COG complex subunit 2, LDLC, CGI-17 |
Description
The COG2 gene encodes a subunit of the conserved oligomeric Golgi (COG) complex, an eight-protein tethering complex that mediates intra-Golgi vesicle trafficking and maintains Golgi structure and function. COG2 is essential for proper glycosylation of proteins and lipids. Mutations in COG2 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 (CDG-II) | Defective COG2 disrupts COG complex assembly, impairing Golgi trafficking and leading to hypoglycosylation of glycoproteins | Multiple case reports; OMIM #606974; ClinVar pathogenic variants |
| Intellectual disability | Aberrant glycosylation due to COG2 mutations affects neuronal development and synaptic function | Observed in CDG-II patients with COG2 mutations; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Kidney | 7.1 | Medium |
| Heart | 6.9 | Medium |
| Lung | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | High expression |
| HeLa | 11.8 | Moderate expression |
| HepG2 | 9.5 | Moderate expression |
| SH-SY5Y | 13.1 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.169G>A (p.Glu57Lys) | Missense | Rare | Impaired COG complex assembly; loss of function |
| c.742C>T (p.Arg248Trp) | Missense | Rare | Reduced protein stability; loss of function |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of protein; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most COG2 mutations are loss-of-function, leading to reduced COG complex stability and defective Golgi trafficking.
Gain of Function (GOF)
No gain-of-function mutations reported for COG2.
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
• COG complex-mediated vesicle tethering (Reactome: R-HSA-6811434)
• Golgi-to-ER retrograde transport (Reactome: R-HSA-6811440)
• Congenital disorders of glycosylation (KEGG: hsa00510)
Protein Summary
COG2 is a 738-amino acid protein (80 kDa) that forms part of the COG complex's lobe A. It interacts with other COG subunits (COG1, COG3, COG4) and is critical for tethering COPI vesicles to the Golgi apparatus. The protein contains a coiled-coil domain and is localized to the Golgi membrane. Loss of COG2 function results in mislocalization of Golgi enzymes and abnormal N- and O-glycosylation.
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