COG5
Component of Oligomeric Golgi Complex 5
Gene Information Card
| Symbol | COG5 |
|---|---|
| Full Name | Component of Oligomeric Golgi Complex 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q22.3 |
| NCBI Gene ID | 10466 ncbi.nlm.nih.gov/gene/10466 |
| Ensembl ID | ENSG00000164853 |
| UniProt ID | Q9UP83 |
| OMIM ID | 606821 |
| HGNC ID | 6540 |
| Aliases | GOLTC, COD1, CDG2I, CGI-63 |
Description
The COG5 gene encodes a subunit of the conserved oligomeric Golgi (COG) complex, which is essential for tethering and fusion of transport vesicles within the Golgi apparatus. Mutations in COG5 cause congenital disorder of glycosylation type II (CDG-II) due to defective Golgi trafficking and protein glycosylation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation type II (CDG2I) | Loss-of-function mutations in COG5 impair COG complex assembly, leading to mislocalization of Golgi enzymes and abnormal N- and O-glycosylation. | OMIM #613612; ClinVar |
| Intellectual disability | Disrupted Golgi trafficking affects neuronal development and function. | ClinVar; literature reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 10.1 | Medium |
| Testis | 15.2 | Medium |
| Lung | 7.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | High expression |
| HeLa | 11.5 | Medium expression |
| K562 | 9.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1690C>T (p.Arg564*) | Nonsense | Rare | Loss of function; premature stop codon |
| c.1000G>A (p.Gly334Arg) | Missense | Rare | Impaired COG complex assembly |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production |
Mutation functional classification
Loss of Function (LOF)
Most COG5 mutations are loss-of-function, leading to reduced or absent protein, causing CDG type II.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • Golgi apparatus | • intra-Golgi vesicle-mediated transport |
| • protein glycosylation | • COG complex |
| • Golgi to ER retrograde transport |
Pathways
• COG complex function in Golgi trafficking
• N-glycan biosynthesis
• Congenital disorders of glycosylation
Protein Summary
COG5 is a 786-amino-acid protein that forms part of the lobe B subcomplex of the COG tethering complex. It interacts with other COG subunits and SNAREs to facilitate retrograde vesicle transport within the Golgi. Defects in COG5 disrupt Golgi homeostasis and glycosylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COG5 Knockout HEK293 Cell Line | EDJ-KQ6419 | Human | 10466 | Details Get a Quote |
| COG5 Knockout A-549 Cell Line | EDJ-KQ31844 | Human | 10466 | Details Get a Quote |
| COG5 Knockout HCT 116 Cell Line | EDJ-KQ31846 | Human | 10466 | Details Get a Quote |
| COG5 Knockout HeLa Cell Line | EDJ-KQ31847 | Human | 10466 | Details Get a Quote |
