COG8
Chr 16component of oligomeric golgi complex 8
Also known as: CDG2H, DOR1
The protein is a component of the conserved oligomeric Golgi (COG) complex that maintains Golgi structure and enables intracellular membrane trafficking and glycoprotein modification. Mutations cause congenital disorder of glycosylation type IIh, characterized by severe psychomotor retardation, failure to thrive, seizures, and intolerance to dairy and wheat products due to under-glycosylated serum proteins. This follows autosomal recessive inheritance and the gene shows tolerance to loss-of-function variants (pLI near zero).
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
COG8 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools