ARFGEF2
Chr 20ARARF guanine nucleotide exchange factor 2
Also known as: BIG2, PVNH2, dJ1164I10.1
This protein functions as a guanine nucleotide exchange factor that activates ARF proteins to regulate vesicular trafficking between the Golgi, endosomes, and plasma membrane. Biallelic mutations cause autosomal recessive periventricular heterotopia with microcephaly. The gene is highly constrained against loss-of-function variants in the general population.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ARFGEF2 · 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