BIN2 (Bridging Integrator 2) Gene
Key regulator of endocytosis and actin dynamics
Gene Information Card
| Symbol | BIN2 |
|---|---|
| Full Name | Bridging integrator 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 51411 ncbi.nlm.nih.gov/gene/51411 |
| Ensembl ID | ENSG00000110934 |
| UniProt ID | Q9UBW5 |
| OMIM ID | 608852 |
| HGNC ID | 1053 |
| Aliases | BRAP-2, SH3P9, amphiphysin-like |
Description
BIN2 (Bridging integrator 2) encodes a member of the BAR (Bin/Amphiphysin/Rvs) domain protein family. The protein is involved in endocytosis, actin cytoskeleton remodeling, and membrane trafficking. It contains an N-terminal BAR domain that binds to curved membranes and a C-terminal SH3 domain that interacts with dynamin and other endocytic proteins. BIN2 is widely expressed and plays roles in cell signaling, cell migration, and immune synapse formation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered endocytosis and cell migration | COSMIC database reports somatic mutations in multiple cancer types |
| Neurodegenerative disorders | Potential role in synaptic vesicle recycling | Inferred from family member BIN1; limited direct evidence for BIN2 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 10.2 | Medium |
| Testis | 15.8 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.2 | High expression |
| HeLa | 9.8 | Medium expression |
| K562 | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497G>A (p.Arg166Gln) | Missense | 0.01% | Unknown functional impact |
| c.1123C>T (p.Arg375Trp) | Missense | 0.005% | Reported in COSMIC; potential loss of SH3 domain function |
Mutation functional classification
Loss of Function (LOF)
Mutations in the BAR or SH3 domain may impair membrane binding or protein interactions, reducing endocytic capacity.
Gain of Function (GOF)
Not well characterized for BIN2.
Dominant Negative (DN)
Truncating mutations or those disrupting dimerization could interfere with wild-type function.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidylinositol-4 (GO:0005546) | • endocytosis (GO:0006897) |
| • actin cytoskeleton organization (GO:0030036) | • plasma membrane (GO:0005886) |
| • small GTPase binding (GO:0031267) |
Pathways
• Endocytosis (Reactome: R-HSA-199991)
• Clathrin-mediated endocytosis (Reactome: R-HSA-8856828)
• Fcgamma receptor (FCGR) dependent phagocytosis (Reactome: R-HSA-2029480)
Protein Summary
BIN2 is a 546-amino acid protein with a BAR domain (residues 1–240) that senses and induces membrane curvature, and an SH3 domain (residues 400–460) that binds proline-rich motifs in partners such as dynamin. It localizes to the plasma membrane and endocytic vesicles. The protein is involved in clathrin-mediated endocytosis, actin polymerization, and cell adhesion. Post-translational modifications include phosphorylation at Ser298 and Ser302, which may regulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BIN2 Knockout HEK293 Cell Line | EDJ-KQ11086 | Human | 51411 | Details Get a Quote |
| BIN2 Knockout HeLa Cell Line | EDJ-KQ56308 | Human | 51411 | Details Get a Quote |
| BIN2 Knockout A-549 Cell Line | EDJ-KQ64797 | Human | 51411 | Details Get a Quote |
| BIN2 Knockout HCT 116 Cell Line | EDJ-KQ73241 | Human | 51411 | Details Get a Quote |
