Heavy data lifting in progress
Cross-referencing ClinVar submissions...
Heavy data lifting in progress
Cross-referencing ClinVar submissions...
astrotactin 2
Mediates recycling of the neuronal cell adhesion molecule ASTN1 to the anterior pole of the cell membrane in migrating neurons. Promotes ASTN1 internalization and intracellular transport of endocytosed ASTN1 (By similarity). Selectively binds inositol-4,5-bisphosphate, inositol-3,4,5-trisphosphate and inositol-1,3,4,5-tetrakisphosphate, suggesting it is recruited to membranes that contain lipids with a phosphoinositide headgroup (Ref.6)
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
1195 submitted variants in ClinVar
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 8 | 0 | 13 | 0 | 21 |
Likely Pathogenic | 10 | 1 | 8 | 0 | 19 |
VUS | 2 | 316 | 31 | 0 | 349 |
Likely Benign | 0 | 2 | 1 | 82 | 85 |
Benign | 0 | 0 | 1 | 1 | 2 |
| Total | 20 | 319 | 54 | 83 | 476 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →ASTN2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
1 OMIM entry
Links to major genomics databases and tools
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →Links to major genomics databases and tools