SYN3 Gene: Synapsin III
Neuronal phosphoprotein involved in synaptic vesicle regulation and neurodevelopmental disorders
Gene Information Card
| Symbol | SYN3 |
|---|---|
| Full Name | Synapsin III |
| Gene Type | Protein coding |
| Chromosomal Location | 22q12.3 |
| NCBI Gene ID | 8224 ncbi.nlm.nih.gov/gene/8224 |
| Ensembl ID | ENSG00000100345 |
| UniProt ID | O14994 |
| OMIM ID | 602705 |
| HGNC ID | 11495 |
| Aliases | SYNIII, synapsin-3 |
Description
SYN3 encodes synapsin III, a member of the synapsin family of neuronal phosphoproteins that coat synaptic vesicles and regulate neurotransmitter release. Synapsin III is involved in synaptogenesis, synaptic vesicle clustering, and modulation of synaptic plasticity. Alternative splicing generates multiple isoforms. Variants in SYN3 have been associated with neurodevelopmental disorders including autism spectrum disorder, schizophrenia, and epilepsy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism spectrum disorder | Disruption of synaptic vesicle dynamics and neuronal connectivity | PMID: 18500334, ClinVar |
| Schizophrenia | Altered synapsin III expression affecting glutamatergic signaling | PMID: 20080012 |
| Epilepsy | Impaired synaptic vesicle recycling leading to neuronal hyperexcitability | PMID: 23542741 |
| Bipolar disorder | Potential dysregulation of synaptic plasticity | PMID: 21829560 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Brain (cerebellum) | 10.3 | Medium |
| Testis | 4.2 | Low |
| Spinal cord | 3.8 | Low |
| Heart | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.1 | Neuronal model |
| U-87 MG (glioblastoma) | 2.3 | Low expression |
| HEK 293 (embryonic kidney) | 0.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112G>A (p.Gly38Arg) | Missense | Rare | Altered protein function, associated with autism |
| c.487C>T (p.Arg163Trp) | Missense | Rare | Potential loss of function, reported in schizophrenia |
| c.739_741del (p.Lys247del) | In-frame deletion | Rare | Disrupts synapsin III domain, epilepsy |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg163Trp) may impair synapsin III binding to synaptic vesicles, reducing neurotransmitter release.
Gain of Function (GOF)
Not well documented; no clear gain-of-function variants reported in literature.
Dominant Negative (DN)
Potential dominant-negative effect of certain missense mutations (e.g., p.Gly38Arg) interfering with wild-type synapsin function.
View complete mutation data：
Gene Ontology (GO)
| • synaptic vesicle (GO:0008021) | • calcium-dependent phospholipid binding (GO:0017156) |
| • synapse (GO:0045202) | • neurotransmitter secretion (GO:0007269) |
| • synaptic vesicle endocytosis (GO:0048488) |
Pathways
• Synaptic vesicle cycle (Reactome: R-HSA-112310)
• Neurotransmitter release cycle (Reactome: R-HSA-112314)
Protein Summary
Synapsin III is a 580-amino acid neuronal phosphoprotein (UniProt O14994) that localizes to synaptic vesicles. It contains conserved synapsin domains (A, C, E) and a variable C-terminal region. Synapsin III modulates vesicle clustering and mobilization, influencing short-term synaptic plasticity. Isoforms differ in tissue expression and developmental regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYN3 Knockout HEK293 Cell Line | EDJ-KQ5488 | Human | 8224 | Details Get a Quote |
| SYN3 Knockout HeLa Cell Line | EDJ-KQ54835 | Human | 8224 | Details Get a Quote |
| SYN3 Knockout A-549 Cell Line | EDJ-KQ63326 | Human | 8224 | Details Get a Quote |
| SYN3 Knockout HCT 116 Cell Line | EDJ-KQ71796 | Human | 8224 | Details Get a Quote |
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