ASTN2
Chr 9astrotactin 2
Also known as: bA67K19.1
This protein mediates recycling of the neuronal cell adhesion molecule ASTN1 and selectively binds phosphoinositides, functioning in neuronal migration during brain development. Mutations cause autosomal dominant neurodevelopmental disorders including intellectual disability, autism spectrum disorder, and schizophrenia. The gene is highly constrained against loss-of-function variants, indicating that even heterozygous mutations can cause significant clinical phenotypes.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ASTN2 · 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