BIN1 (Bridging Integrator 1) Gene
Key regulator of membrane dynamics and endocytosis, implicated in Alzheimer's disease and myopathy
Gene Information Card
| Symbol | BIN1 |
|---|---|
| Full Name | Bridging Integrator 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q14.3 |
| NCBI Gene ID | 274 ncbi.nlm.nih.gov/gene/274 |
| Ensembl ID | ENSG00000136717 |
| UniProt ID | O00499 |
| OMIM ID | 601248 |
| HGNC ID | 1052 |
| Aliases | AMPH2, AMPHL, SH3P9, amphiphysin II |
Description
BIN1 (Bridging Integrator 1) encodes a member of the amphiphysin protein family, which functions in membrane curvature, endocytosis, and actin dynamics. The gene produces multiple isoforms through alternative splicing, with tissue-specific expression. BIN1 is a major genetic risk factor for late-onset Alzheimer's disease and is also associated with centronuclear myopathy. It interacts with dynamin, clathrin, and other endocytic proteins.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer's disease (late-onset) | Risk variant (rs744373) increases BIN1 expression; altered tau pathology and amyloid-beta clearance | GWAS, meta-analysis (NCBI, OMIM) |
| Centronuclear myopathy (autosomal recessive) | Loss-of-function mutations disrupt membrane tubulation and T-tubule formation in muscle | Case reports, functional studies (OMIM, ClinVar) |
| Myopathy, congenital, with cardiomyopathy | Homozygous truncating mutations impair BIN1 function in cardiac and skeletal muscle | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.3 | Medium |
| Skeletal muscle | 8.7 | Medium |
| Heart | 6.5 | Low |
| Lung | 2.1 | Not detected |
| Liver | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| U-87 MG (glioblastoma) | 9.8 | Glial model |
| HeLa (cervical carcinoma) | 4.3 | Epithelial |
| HepG2 (hepatocellular carcinoma) | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs744373 (intronic) | SNP | ~35% in European populations | Risk allele for Alzheimer's disease; associated with increased BIN1 expression |
| c.146C>T (p.Pro49Leu) | Missense | Rare | Associated with centronuclear myopathy; disrupts BAR domain |
| c.128_129del (p.Glu43Valfs*2) | Frameshift | Rare | Loss of function; causes centronuclear myopathy |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in BIN1 cause centronuclear myopathy by impairing membrane tubulation and endocytosis in muscle cells.
Gain of Function (GOF)
Not clearly established; the Alzheimer's risk allele rs744373 is associated with increased BIN1 expression, but whether this represents gain-of-function is debated.
Dominant Negative (DN)
Some missense mutations in the BAR domain may exert dominant-negative effects on amphiphysin dimerization, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • endocytosis (GO:0006897) | • phosphatidylinositol-4 (GO:0005546) |
| • clathrin coat assembly (GO:0032050) | • clathrin-coated vesicle (GO:0030136) |
| • actin binding (GO:0003779) | • synapse (GO:0045202) |
Pathways
• Endocytosis (Reactome: R-HSA-199991)
• Clathrin-mediated endocytosis (Reactome: R-HSA-8856828)
• Alzheimer's disease (KEGG: hsa05010)
Protein Summary
BIN1 (amphiphysin II) is a 593-amino acid protein containing an N-terminal BAR domain (membrane curvature sensing and induction), a central clathrin-binding domain, and a C-terminal SH3 domain (interacts with dynamin and synaptojanin). It functions in endocytosis, membrane remodeling, and T-tubule biogenesis in muscle. Multiple isoforms exist due to alternative splicing, with brain-specific isoforms implicated in Alzheimer's disease risk.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BIN1 Knockout HEK293 Cell Line | EDJ-KQ2419 | Human | 274 | Details Get a Quote |
| CABIN1 Knockout HEK293 Cell Line | EDJ-KQ8044 | Human | 23523 | Details Get a Quote |
| BIN1 Knockout A-549 Cell Line | EDJ-KQ22926 | Human | 274 | Details Get a Quote |
| BIN1 Knockout HCT 116 Cell Line | EDJ-KQ22927 | Human | 274 | Details Get a Quote |
| BIN1 Knockout HeLa Cell Line | EDJ-KQ22928 | Human | 274 | Details Get a Quote |
| CABIN1 Knockout A-549 Cell Line | EDJ-KQ33847 | Human | 23523 | Details Get a Quote |
| CABIN1 Knockout HCT 116 Cell Line | EDJ-KQ33848 | Human | 23523 | Details Get a Quote |
| CABIN1 Knockout HeLa Cell Line | EDJ-KQ33849 | Human | 23523 | Details Get a Quote |
Displaying Records 1 To 8 Of 8 Records
