SYN2 Gene - Synapsin II
Comprehensive genomic and functional analysis of the SYN2 gene, encoding synapsin II, a key regulator of synaptic vesicle dynamics and neurotransmitter release.
Gene Information Card
| Symbol | SYN2 |
|---|---|
| Full Name | Synapsin II |
| Gene Type | Protein coding |
| Chromosomal Location | 3p25.2 |
| NCBI Gene ID | 6854 ncbi.nlm.nih.gov/gene/6854 |
| Ensembl ID | ENSG00000157103 |
| UniProt ID | Q92777 |
| OMIM ID | 600755 |
| HGNC ID | 11496 |
| Aliases | SYNII, synapsin-2 |
Description
The SYN2 gene encodes synapsin II, a member of the synapsin family of neuronal phosphoproteins that associate with the cytoplasmic surface of synaptic vesicles. Synapsin II plays a critical role in synaptic vesicle clustering, regulation of neurotransmitter release, and synaptic plasticity. It is predominantly expressed in the brain and is implicated in several neuropsychiatric and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epilepsy | Altered synaptic vesicle dynamics and neurotransmitter release due to SYN2 mutations impair neuronal excitability balance, predisposing to seizures. | ClinVar, OMIM |
| Autism spectrum disorder | Disruption of synapsin II function affects synaptic transmission and plasticity, contributing to ASD pathophysiology. | ClinVar, PubMed |
| Schizophrenia | Genetic variants in SYN2 may alter synaptic function and neurotransmitter signaling, increasing schizophrenia risk. | OMIM, PubMed |
| Bipolar disorder | Association studies link SYN2 polymorphisms with bipolar disorder, possibly through dysregulation of synaptic vesicle cycling. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 48.5 | High |
| Brain (cerebellum) | 35.2 | High |
| Brain (hippocampus) | 42.1 | High |
| Testis | 2.3 | Low |
| Adrenal gland | 1.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 32.4 | Neuronal model |
| U-87 MG (glioblastoma) | 18.7 | Glial model |
| HEK293 (embryonic kidney) | 0.5 | Non-neuronal control |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.164G>A (p.Arg55Gln) | Missense | <0.01% | Altered protein stability and synaptic vesicle binding |
| c.1003C>T (p.Arg335Trp) | Missense | <0.01% | Impaired synapsin II function, associated with epilepsy |
| c.1342_1343del (p.Leu448fs) | Frameshift | Rare | Loss of function, truncation of C-terminal domain |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated or absent synapsin II protein, disrupting synaptic vesicle clustering.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported for SYN2.
Dominant Negative (DN)
Missense mutations such as p.Arg55Gln may exert dominant-negative effects by interfering with synapsin II dimerization and vesicle binding.
View complete mutation data：
Gene Ontology (GO)
| • neurotransmitter secretion (GO:0007269) | • synapse (GO:0045202) |
| • synaptic vesicle membrane (GO:0030672) | • protein binding (GO:0005515) |
| • cytoskeletal protein binding (GO:0008092) |
Pathways
• Synaptic vesicle cycle (KEGG: hsa04721)
• Neurotransmitter release cycle (Reactome: R-HSA-112310)
Protein Summary
Synapsin II is a 586-amino acid neuronal phosphoprotein that binds to synaptic vesicles and actin filaments. It regulates the clustering of synaptic vesicles at presynaptic terminals and modulates neurotransmitter release. The protein contains conserved domains for ATP binding and phosphorylation by Ca2+/calmodulin-dependent protein kinase II, which controls its interaction with vesicles and the cytoskeleton.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYN2 Knockout HEK293 Cell Line | EDJ-KQ5874 | Human | 6854 | Details Get a Quote |
| INSYN2A Knockout HEK293 Cell Line | EDJ-KQ13846 | Human | 642938 | Details Get a Quote |
| INSYN2B Knockout HEK293 Cell Line | EDJ-KQ13847 | Human | 100131897 | Details Get a Quote |
| SYN2 Knockout HCT 116 Cell Line | EDJ-KQ29368 | Human | 6854 | Details Get a Quote |
| INSYN2B Knockout HeLa Cell Line | EDJ-KQ43687 | Human | 100131897 | Details Get a Quote |
| SYN2 Knockout HeLa Cell Line | EDJ-KQ54599 | Human | 6854 | Details Get a Quote |
| INSYN2A Knockout HeLa Cell Line | EDJ-KQ60533 | Human | 642938 | Details Get a Quote |
| SYN2 Knockout A-549 Cell Line | EDJ-KQ63081 | Human | 6854 | Details Get a Quote |
| INSYN2A Knockout A-549 Cell Line | EDJ-KQ69003 | Human | 642938 | Details Get a Quote |
| INSYN2B Knockout A-549 Cell Line | EDJ-KQ69296 | Human | 100131897 | Details Get a Quote |
| INSYN2A Knockout HCT 116 Cell Line | EDJ-KQ77361 | Human | 642938 | Details Get a Quote |
| INSYN2B Knockout HCT 116 Cell Line | EDJ-KQ77653 | Human | 100131897 | Details Get a Quote |
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