Identity
HGNC
LOCATION
16q22.1
LOCUSID
ALIAS
CDG2J,COD1,SWILS
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 25839
MIM: 606976
HGNC: 18620
Ensembl: ENSG00000103051
Variants:
dbSNP: 25839
ClinVar: 25839
TCGA: ENSG00000103051
COSMIC: COG4
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32652690 | 2020 | Growth in individuals with Saul-Wilson syndrome. | 1 |
| 32652690 | 2020 | Growth in individuals with Saul-Wilson syndrome. | 1 |
| 29467253 | 2018 | Membrane detachment is not essential for COG complex function. | 10 |
| 30290151 | 2018 | A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. | 40 |
| 29467253 | 2018 | Membrane detachment is not essential for COG complex function. | 10 |
| 30290151 | 2018 | A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. | 40 |
| 19494034 | 2009 | Golgi function and dysfunction in the first COG4-deficient CDG type II patient. | 63 |
| 19536132 | 2009 | Direct interaction between the COG complex and the SM protein, Sly1, is required for Golgi SNARE pairing. | 54 |
| 19651599 | 2009 | Structural basis for a human glycosylation disorder caused by mutation of the COG4 gene. | 46 |
| 19494034 | 2009 | Golgi function and dysfunction in the first COG4-deficient CDG type II patient. | 63 |
| 19536132 | 2009 | Direct interaction between the COG complex and the SM protein, Sly1, is required for Golgi SNARE pairing. | 54 |
| 19651599 | 2009 | Structural basis for a human glycosylation disorder caused by mutation of the COG4 gene. | 46 |
Citation
Dessen P
COG4 (component of oligomeric golgi complex 4)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56464/cog4-(component-of-oligomeric-golgi-complex-4)
