COG6
Chr 13ARcomponent of oligomeric golgi complex 6
Also known as: CDG2L, COD2, SHNS
This gene encodes a subunit of the conserved oligomeric Golgi complex that maintains normal Golgi apparatus structure and function, specifically as part of the lobe B sub-complex with COG components 5, 7, and 8. Mutations cause congenital disorder of glycosylation type IIl and Shaheen syndrome, both inherited in an autosomal recessive pattern. The gene shows no significant constraint against loss-of-function variants (pLI near zero, LOEUF ~1), which is consistent with the recessive inheritance pattern where heterozygous carriers are typically unaffected.
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
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
COG6 · 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