SYP (Synaptophysin) Gene
A key presynaptic vesicle protein gene implicated in neurodevelopmental disorders and epilepsy
Gene Information Card
| Symbol | SYP |
|---|---|
| Full Name | Synaptophysin |
| Gene Type | Protein coding |
| Chromosomal Location | Xp11.23 |
| NCBI Gene ID | 6855 ncbi.nlm.nih.gov/gene/6855 |
| Ensembl ID | ENSG00000102003 |
| UniProt ID | P08247 |
| OMIM ID | 313475 |
| HGNC ID | 11506 |
| Aliases | MRXSYN, SYP1 |
Description
The SYP gene encodes synaptophysin, an integral membrane protein of small synaptic vesicles in neurons. It is involved in synaptic vesicle exocytosis, endocytosis, and neurotransmitter release. Mutations in SYP are associated with X-linked intellectual disability, epilepsy, and autism spectrum disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked intellectual disability with epilepsy | Loss of SYP function impairs synaptic vesicle recycling and neurotransmitter release, leading to neuronal hyperexcitability and cognitive deficits. | ClinVar, OMIM |
| Epileptic encephalopathy, early infantile | Pathogenic variants disrupt presynaptic function, causing severe seizures and developmental delay. | ClinVar |
| Autism spectrum disorder | SYP mutations alter synaptic transmission and plasticity, contributing to autistic behaviors. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 58.2 | High |
| Cerebral cortex | 62.1 | High |
| Cerebellum | 55.8 | High |
| Hippocampus | 60.4 | High |
| Spinal cord | 25.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 45.6 | Neuronal model |
| U-87 MG (glioblastoma) | 12.3 | Low expression |
| HEK293 (embryonic kidney) | 0.5 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.151C>T (p.Arg51*) | Nonsense | Rare | Loss of function; truncated protein |
| c.346G>A (p.Gly116Arg) | Missense | Rare | Impaired vesicle trafficking |
| c.448_449del (p.Leu150fs) | Frameshift | Rare | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Most SYP mutations result in loss of function, leading to reduced synaptophysin levels or impaired synaptic vesicle cycling.
Gain of Function (GOF)
No gain-of-function mutations reported for SYP.
Dominant Negative (DN)
No dominant-negative mutations reported; SYP is X-linked and hemizygous in males.
View complete mutation data：
Gene Ontology (GO)
| • synaptic vesicle membrane | • neurotransmitter secretion |
| • exocytosis | • synaptic vesicle exocytosis |
| • protein binding | • identical protein binding |
Pathways
• Synaptic vesicle cycle (KEGG: hsa04721)
• Neurotransmitter release cycle (Reactome: R-HSA-112310)
Protein Summary
Synaptophysin is a 313-amino acid integral membrane protein with four transmembrane domains, localized to synaptic vesicle membranes. It functions as a calcium sensor and regulator of vesicle fusion, interacting with synaptobrevin and other SNARE proteins. Its expression is neuron-specific and abundant in presynaptic terminals.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYPL1 Knockout HEK293 Cell Line | EDJ-KQ2523 | Human | 6856 | Details Get a Quote |
| SYP Knockout HEK293 Cell Line | EDJ-KQ3656 | Human | 6855 | Details Get a Quote |
| SYPL2 Knockout HEK293 Cell Line | EDJ-KQ15585 | Human | 284612 | Details Get a Quote |
| SYPL1 Knockout A-549 Cell Line | EDJ-KQ24522 | Human | 6856 | Details Get a Quote |
| SYPL1 Knockout HCT 116 Cell Line | EDJ-KQ24524 | Human | 6856 | Details Get a Quote |
| SYPL1 Knockout HeLa Cell Line | EDJ-KQ24525 | Human | 6856 | Details Get a Quote |
| SYP Knockout A-549 Cell Line | EDJ-KQ25625 | Human | 6855 | Details Get a Quote |
| SYP Knockout HCT 116 Cell Line | EDJ-KQ25626 | Human | 6855 | Details Get a Quote |
| SYPL2 Knockout HCT 116 Cell Line | EDJ-KQ46453 | Human | 284612 | Details Get a Quote |
| SYP Knockout HeLa Cell Line | EDJ-KQ54600 | Human | 6855 | Details Get a Quote |
| SYPL2 Knockout HeLa Cell Line | EDJ-KQ59482 | Human | 284612 | Details Get a Quote |
| SYPL2 Knockout A-549 Cell Line | EDJ-KQ67948 | Human | 284612 | Details Get a Quote |
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