BSN (Bassoon Presynaptic Cytomatrix Protein)
A key scaffold protein of the presynaptic active zone involved in neurotransmitter release and synaptic vesicle clustering.
Gene Information Card
| Symbol | BSN |
|---|---|
| Full Name | Bassoon (Presynaptic Cytomatrix Protein) |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 8927 ncbi.nlm.nih.gov/gene/8927 |
| Ensembl ID | ENSG00000164061 |
| UniProt ID | Q9UPA5 |
| OMIM ID | 604720 |
| HGNC ID | 1117 |
| Aliases | BASS, ZNF231 |
Description
The BSN gene encodes Bassoon, a large scaffold protein (approximately 420 kDa) that is a core component of the presynaptic active zone. Bassoon interacts with other cytomatrix proteins (e.g., Piccolo, RIM, Munc13) to organize synaptic vesicle clustering, docking, and calcium channel localization. It is essential for normal neurotransmitter release and synaptic plasticity, particularly in the brain and retina.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinal dystrophy | Loss-of-function mutations in BSN disrupt presynaptic ribbon synapse structure in photoreceptors, leading to progressive vision loss. | ClinVar, OMIM |
| Neurodevelopmental disorder with speech delay and intellectual disability | Homozygous or compound heterozygous BSN variants impair synaptic transmission in cortical neurons. | ClinVar, OMIM |
| Epilepsy | Altered synaptic vesicle release due to BSN mutations may increase neuronal excitability. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 35.2 | High |
| Cerebellum | 28.1 | High |
| Retina | 22.5 | High |
| Testis | 1.2 | Low |
| Heart | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 18.3 | Neuronal model |
| U-87 MG (glioblastoma) | 12.7 | Glial origin |
| HEK293 | 0.8 | Non-neuronal, low expression |
| HepG2 | 0.3 | Hepatocyte, negligible |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Premature stop, loss of function |
| c.5678_5681del (p.Glu1893Valfs*5) | Frameshift | <0.01% | Truncated protein, loss of function |
| c.8902G>A (p.Gly2968Arg) | Missense | <0.01% | Altered protein stability, likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated Bassoon protein, resulting in loss of presynaptic scaffold function.
Gain of Function (GOF)
No gain-of-function mutations reported for BSN.
Dominant Negative (DN)
Not described; BSN mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Presynaptic active zone assembly
• Synaptic vesicle cycle
• Neurotransmitter release
Protein Summary
Bassoon is a large, multi-domain scaffold protein (3930 amino acids) localized to the presynaptic active zone. It contains zinc finger motifs and coiled-coil regions that mediate interactions with Piccolo, RIM, and other active zone proteins. Bassoon anchors synaptic vesicles near calcium channels and is critical for rapid, synchronous neurotransmitter release. In the retina, it is essential for ribbon synapse function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BSND Knockout HEK293 Cell Line | EDJ-KQ6126 | Human | 7809 | Details Get a Quote |
| BSN Knockout HEK293 Cell Line | EDJ-KQ6399 | Human | 8927 | Details Get a Quote |
| BSND Knockout HeLa Cell Line | EDJ-KQ54798 | Human | 7809 | Details Get a Quote |
| BSN Knockout HeLa Cell Line | EDJ-KQ55037 | Human | 8927 | Details Get a Quote |
| BSND Knockout A-549 Cell Line | EDJ-KQ63290 | Human | 7809 | Details Get a Quote |
| BSN Knockout A-549 Cell Line | EDJ-KQ63521 | Human | 8927 | Details Get a Quote |
| BSND Knockout HCT 116 Cell Line | EDJ-KQ71757 | Human | 7809 | Details Get a Quote |
| BSN Knockout HCT 116 Cell Line | EDJ-KQ71988 | Human | 8927 | Details Get a Quote |
