COG4
Chr 16ARADcomponent of oligomeric golgi complex 4
Also known as: CDG2J, COD1, SWILS
COG4 encodes a component of the conserved oligomeric Golgi complex that is required for normal Golgi function and facilitates SNARE-pin assembly and Golgi-to-ER retrograde transport. Mutations cause congenital disorder of glycosylation type IIj and Saul-Wilson syndrome, inherited in both autosomal recessive and autosomal dominant patterns. This gene is highly constrained against loss-of-function variants (LOEUF 0.713), indicating that complete protein loss is typically incompatible with normal development.
Moderate evidence — consider for supplementary testing
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
COG4 · 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