Gene

COG8

Species
Homo sapiens
Symbol
COG8
Name
component of oligomeric golgi complex 8
Synonyms
  • CDG2H
  • COG complex subunit 8
Biotype
protein coding gene
Automated Description
Involved in Golgi organization; glycosylation; and retrograde transport, vesicle recycling within Golgi. Located in Golgi apparatus. Part of Golgi transport complex. Implicated in congenital disorder of glycosylation type IIh.
RGD Description
This gene encodes a protein that is a component of the conserved oligomeric Golgi (COG) complex, a multiprotein complex that plays a structural role in the Golgi apparatus, and is involved in intracellular membrane trafficking and glycoprotein modification. Mutations in this gene cause congenital disorder of glycosylation, type IIh, a disease that is characterized by under-glycosylated serum proteins, and whose symptoms include severe psychomotor retardation, failure to thrive, seizures, and dairy and wheat product intolerance. [provided by RefSeq, Jul 2008]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR21311
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
69.322M69.324M69.326M69.328M69.330M69.332M69.334M69.336M69.338M

Sequence Details

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Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions