BIN1
Chr 2ARbridging integrator 1
Also known as: AMPH2, AMPHL, CNM2, SH3P9
The protein functions as a nucleocytoplasmic adaptor involved in synaptic vesicle endocytosis in the central nervous system and localizes to muscle cytoplasm and nucleus where it can activate apoptotic processes. Mutations cause centronuclear myopathy 2, inherited in an autosomal recessive pattern. The high constraint scores (pLI 0.78, LOEUF 0.37) indicate the gene is intolerant to loss-of-function variants, consistent with pathogenicity through loss of normal protein function.
Limited evidence — not for standalone diagnostic reporting
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
BIN1 · 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