BIN3 (Bridging Integrator 3)
A BAR domain-containing protein involved in membrane dynamics and endocytosis
Gene Information Card
| Symbol | BIN3 |
|---|---|
| Full Name | Bridging Integrator 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p21.3 |
| NCBI Gene ID | 55909 ncbi.nlm.nih.gov/gene/55909 |
| Ensembl ID | ENSG00000147400 |
| UniProt ID | Q9NQY0 |
| OMIM ID | 609689 |
| HGNC ID | 1052 |
| Aliases | BRAP-2, SH3P17, BIN3a, BIN3b |
Description
BIN3 (Bridging Integrator 3) encodes a member of the BAR (Bin/Amphiphysin/Rvs) domain protein family. BAR domains are involved in membrane curvature sensing and remodeling, endocytosis, and intracellular trafficking. BIN3 is widely expressed and plays roles in cell division, neuronal development, and cancer biology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered BIN3 expression may affect endocytosis and cell signaling pathways, contributing to tumorigenesis. | COSMIC; literature |
| Neurodevelopmental disorders | BIN3 interacts with proteins involved in synaptic vesicle recycling; mutations may disrupt neuronal function. | OMIM; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 7.8 | Low expression |
| SH-SY5Y | 14.3 | Higher expression in neuronal cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287A>G (p.Asn96Ser) | Missense | <0.01% | Unknown functional impact |
| c.451C>T (p.Arg151Trp) | Missense | <0.01% | Reported in COSMIC; potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the BAR domain may impair membrane binding and endocytosis.
Gain of Function (GOF)
Not well documented for BIN3.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidylinositol-4 (GO:0005546) | • endocytosis (GO:0006897) |
| • clathrin-coated vesicle (GO:0030136) | • cytoplasmic vesicle (GO:0031410) |
| • synapse (GO:0045202) |
Pathways
• Endocytosis (Reactome: R-HSA-199991)
• Clathrin-mediated endocytosis (Reactome: R-HSA-8856828)
Protein Summary
BIN3 is a BAR domain-containing protein that localizes to membranes and participates in endocytic processes. It can form homodimers and heterodimers with other BAR proteins, influencing membrane curvature. BIN3 is implicated in synaptic vesicle recycling and may act as a tumor suppressor in certain cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BIN3 Knockout HEK293 Cell Line | EDJ-KQ12535 | Human | 55909 | Details Get a Quote |
| BIN3 Knockout HeLa Cell Line | EDJ-KQ40236 | Human | 55909 | Details Get a Quote |
| BIN3 Knockout A-549 Cell Line | EDJ-KQ41526 | Human | 55909 | Details Get a Quote |
| BIN3 Knockout HCT 116 Cell Line | EDJ-KQ41527 | Human | 55909 | Details Get a Quote |
