COG7: Component of Oligomeric Golgi Complex 7
A key subunit of the conserved oligomeric Golgi complex involved in intra-Golgi trafficking and glycosylation; mutations cause congenital disorders of glycosylation.
Gene Information Card
| Symbol | COG7 |
|---|---|
| Full Name | Component Of Oligomeric Golgi Complex 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 91949 ncbi.nlm.nih.gov/gene/91949 |
| Ensembl ID | ENSG00000166685 |
| UniProt ID | P83436 |
| OMIM ID | 606978 |
| HGNC ID | 18622 |
| Aliases | CDG2E, DKFZp761E198, FLJ22320 |
Description
COG7 encodes a subunit of the conserved oligomeric Golgi (COG) complex, an eight-protein tethering complex that regulates intra-Golgi vesicle trafficking and maintains Golgi structure and function. Defects in COG7 cause congenital disorder of glycosylation type IIe (CDG-IIe), characterized by multisystem abnormalities due to impaired protein and lipid glycosylation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation type IIe (CDG-IIe) | Loss-of-function mutations in COG7 disrupt COG complex assembly, leading to mislocalization of Golgi glycosyltransferases and defective N- and O-glycosylation. | OMIM #608779; ClinVar; multiple case reports |
| COG7-related developmental delay | Impaired Golgi trafficking affects neuronal development and function; observed in patients with biallelic COG7 mutations. | ClinVar; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 8.2 | Medium |
| Brain | 6.5 | Medium |
| Kidney | 5.9 | Medium |
| Heart | 4.8 | Low |
| Lung | 3.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 7.1 | RNA-seq data from GTEx |
| HEK293 | 6.8 | RNA-seq data from GTEx |
| K562 | 5.4 | RNA-seq data from GTEx |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.169G>A (p.Gly57Arg) | Missense | Rare | Loss of function; disrupts COG complex stability |
| c.322C>T (p.Arg108Trp) | Missense | Rare | Loss of function; impairs Golgi trafficking |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of function; prevents translation initiation |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations in COG7 cause CDG-IIe by destabilizing the COG complex and disrupting Golgi trafficking.
Gain of Function (GOF)
No gain-of-function mutations reported for COG7.
Dominant Negative (DN)
No dominant-negative mutations reported for COG7.
View complete mutation data：
Gene Ontology (GO)
| • Golgi organization (GO:0007030) | • 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-6811438)
• N-glycan trimming and processing (Reactome: R-HSA-975576)
Protein Summary
COG7 is a 60 kDa protein that forms part of the lobe B subcomplex (COG5-6-7-8) of the COG tethering complex. It localizes to the Golgi membrane and interacts with other COG subunits to facilitate SNARE-mediated vesicle fusion. Loss of COG7 leads to mislocalization of glycosylation enzymes and accumulation of transport intermediates, resulting in hypoglycosylation of serum proteins and cellular glycoconjugates.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COG7 Knockout HEK293 Cell Line | EDJ-KQ10804 | Human | 91949 | Details Get a Quote |
| COG7 Knockout A-549 Cell Line | EDJ-KQ38446 | Human | 91949 | Details Get a Quote |
| COG7 Knockout HCT 116 Cell Line | EDJ-KQ38447 | Human | 91949 | Details Get a Quote |
| COG7 Knockout HeLa Cell Line | EDJ-KQ38448 | Human | 91949 | Details Get a Quote |
