SYT3 (Synaptotagmin 3)
A calcium sensor involved in vesicle trafficking and neurotransmitter release
Gene Information Card
| Symbol | SYT3 |
|---|---|
| Full Name | Synaptotagmin 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 84258 ncbi.nlm.nih.gov/gene/84258 |
| Ensembl ID | ENSG00000104884 |
| UniProt ID | Q9BQG1 |
| OMIM ID | 600327 |
| HGNC ID | 11510 |
| Aliases | SytIII, syt3 |
Description
SYT3 encodes synaptotagmin 3, a member of the synaptotagmin family that functions as a calcium sensor in vesicle trafficking and exocytosis. It is involved in neurotransmitter release, hormone secretion, and membrane fusion processes. The protein contains two C2 domains (C2A and C2B) that bind calcium and phospholipids, regulating synaptic vesicle fusion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorders | Altered calcium-dependent vesicle release may impair synaptic transmission | ClinVar |
| Autism spectrum disorder | Rare variants in SYT3 have been reported in ASD cohorts | ClinVar |
| Schizophrenia | Dysregulation of SYT3 expression linked to synaptic dysfunction | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 8.3 | Medium |
| Pituitary | 6.1 | Medium |
| Adrenal gland | 4.7 | Low |
| Pancreas | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.0 | Neuronal model |
| HEK293 (embryonic kidney) | 2.1 | Low endogenous expression |
| U-87 MG (glioblastoma) | 5.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338Trp) | Missense | Rare | Altered calcium binding affinity |
| c.1456G>A (p.Glu486Lys) | Missense | Rare | Potential loss of function |
| c.789_791del (p.Phe263del) | Deletion | Rare | Disrupted C2A domain |
Mutation functional classification
Loss of Function (LOF)
Missense and deletion variants impair calcium sensing and vesicle fusion.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding (GO:0005509) | • synaptic vesicle exocytosis (GO:0016079) |
| • vesicle fusion (GO:0006906) | • synaptic vesicle endocytosis (GO:0048488) |
| • plasma membrane (GO:0005886) |
Pathways
• Synaptic vesicle cycle (Reactome: R-HSA-421837)
• Neurotransmitter release cycle (Reactome: R-HSA-112310)
Protein Summary
Synaptotagmin 3 is a 588-amino acid protein with a molecular weight of approximately 66 kDa. It contains an N-terminal transmembrane domain and two C2 domains (C2A and C2B) that mediate calcium-dependent phospholipid binding. The protein localizes to synaptic vesicles and the plasma membrane, playing a key role in calcium-triggered exocytosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYT3 Knockout HEK293 Cell Line | EDJ-KQ10039 | Human | 84258 | Details Get a Quote |
| SYT3 Knockout HCT 116 Cell Line | EDJ-KQ37047 | Human | 84258 | Details Get a Quote |
| SYT3 Knockout HeLa Cell Line | EDJ-KQ57563 | Human | 84258 | Details Get a Quote |
| SYT3 Knockout A-549 Cell Line | EDJ-KQ66060 | Human | 84258 | Details Get a Quote |
