SNAP25
Synaptosome Associated Protein 25
Gene Information Card
| Symbol | SNAP25 |
|---|---|
| Full Name | Synaptosome Associated Protein 25 |
| Gene Type | protein-coding |
| Chromosomal Location | 20p12.2 |
| NCBI Gene ID | 6616 ncbi.nlm.nih.gov/gene/6616 |
| Ensembl ID | ENSG00000132639 |
| UniProt ID | P60880 |
| OMIM ID | 600322 |
| HGNC ID | 11132 |
| Aliases | SNAP-25, bA416N4.1, dJ1068F16.2, RIC-4, SEC9, SNAP, SUP |
Description
SNAP25 (Synaptosome Associated Protein 25) encodes a presynaptic membrane protein involved in the regulation of neurotransmitter release. It is a component of the SNARE complex, which mediates vesicle docking and fusion with the presynaptic membrane. SNAP25 is essential for synaptic vesicle exocytosis and plays a critical role in neuronal plasticity and neurotransmitter secretion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epileptic encephalopathy, early infantile, 79 (EIEE79) | Missense mutations impair SNARE complex assembly, reducing neurotransmitter release | ClinVar, OMIM |
| Congenital myasthenic syndrome 18 (CMS18) | Loss-of-function mutations disrupt acetylcholine release at neuromuscular junction | ClinVar, OMIM |
| Attention-deficit/hyperactivity disorder (ADHD) | Genetic variants associated with altered SNAP25 expression and dopaminergic signaling | NCBI, OMIM |
| Bipolar disorder | Polymorphisms linked to synaptic dysfunction and mood regulation | NCBI, OMIM |
| Schizophrenia | SNAP25 expression changes observed in prefrontal cortex; genetic association studies | NCBI, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 78.2 | High |
| Adrenal gland | 12.5 | Medium |
| Pituitary gland | 10.1 | Medium |
| Spinal cord | 8.9 | Medium |
| Testis | 3.4 | Low |
| Pancreas | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 45.3 | High expression; used in neuronal differentiation studies |
| SK-N-SH (neuroblastoma) | 38.7 | High expression |
| U-87 MG (glioblastoma) | 12.4 | Moderate expression |
| HEK 293 (embryonic kidney) | 0.8 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.199G>A (p.Gly67Arg) | Missense | Rare | Impaired SNARE complex formation; associated with EIEE79 |
| c.511C>T (p.Arg171Trp) | Missense | Rare | Reduced exocytosis; linked to CMS18 |
| c.556G>A (p.Gly186Arg) | Missense | Rare | Dominant-negative effect; severe epileptic encephalopathy |
| c.662T>C (p.Ile221Thr) | Missense | Rare | Altered calcium-dependent exocytosis; CMS18 |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Gly67Arg, p.Arg171Trp) reduce SNARE complex stability and vesicle fusion, leading to impaired neurotransmitter release.
Gain of Function (GOF)
No gain-of-function mutations reported in SNAP25.
Dominant Negative (DN)
p.Gly186Arg acts as a dominant-negative mutant, disrupting wild-type SNAP25 function and causing severe synaptic dysfunction.
View complete mutation data：
Gene Ontology (GO)
| • SNARE binding | • synaptic vesicle exocytosis |
| • vesicle fusion | • calcium-dependent exocytosis |
| • regulation of neurotransmitter secretion | • plasma membrane |
| • synapse | • neuronal cell body |
Pathways
• Neurotransmitter release cycle (Reactome: R-HSA-112310)
• SNARE interactions in vesicular transport (KEGG: hsa04130)
• Synaptic vesicle cycle (KEGG: hsa04721)
Protein Summary
SNAP25 is a 206-amino acid protein (UniProt P60880) that localizes to the presynaptic plasma membrane. It forms a ternary SNARE complex with syntaxin-1 and synaptobrevin/VAMP2, catalyzing membrane fusion during neurotransmitter release. The protein contains two SNARE motifs (Qb and Qc) and is palmitoylated for membrane anchoring. Alternative splicing generates two isoforms: SNAP25a and SNAP25b, with SNAP25b being predominant in the adult brain. SNAP25 is also a target for botulinum neurotoxins (BoNT/A and BoNT/E), which cleave the protein and block exocytosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNAP25 Knockout HEK293 Cell Line | EDJ-KQ5807 | Human | 6616 | Details Get a Quote |
| SNAP25 Knockout A-549 Cell Line | EDJ-KQ29225 | Human | 6616 | Details Get a Quote |
| SNAP25 Knockout HeLa Cell Line | EDJ-KQ29226 | Human | 6616 | Details Get a Quote |
| SNAP25 Knockout HCT 116 Cell Line | EDJ-KQ71490 | Human | 6616 | Details Get a Quote |
| Snap25 Knockout N1E-115 Cell Line | EDC08238 | Mouse | 20614 | Details Get a Quote |
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