GOLGA2
Chr 9ARgolgin A2
Also known as: DEDHMB, GM130
This gene encodes a peripheral membrane protein that maintains Golgi apparatus structure, facilitates vesicle tethering and fusion, and plays essential roles in spindle pole assembly and centrosome organization during cell division. Mutations cause autosomal recessive developmental delays, intellectual disability, and skeletal abnormalities with onset in early childhood. The gene is highly constrained against loss-of-function variants (pLI 0.99, LOEUF 0.30), indicating that complete loss of protein function is likely incompatible with normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GOLGA2 · 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