SYT4 Gene - Synaptotagmin 4
A calcium sensor involved in vesicle trafficking and neurotransmitter release
Gene Information Card
| Symbol | SYT4 |
|---|---|
| Full Name | Synaptotagmin 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 18q12.3 |
| NCBI Gene ID | 6860 ncbi.nlm.nih.gov/gene/6860 |
| Ensembl ID | ENSG00000134333 |
| UniProt ID | Q9H2B2 |
| OMIM ID | 600698 |
| HGNC ID | 11510 |
| Aliases | SytIV, synaptotagmin IV |
Description
The SYT4 gene encodes synaptotagmin 4, a member of the synaptotagmin family that functions as a calcium sensor in vesicle trafficking and exocytosis. It is involved in the regulation of neurotransmitter release, hormone secretion, and synaptic plasticity. SYT4 is predominantly expressed in the brain and endocrine tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered SYT4 expression may disrupt synaptic vesicle cycling and neurotransmitter release, contributing to synaptic dysfunction. | ClinVar, NCBI Gene Reviews |
| Bipolar disorder | Genetic association studies link SYT4 variants to mood disorder susceptibility, possibly through impaired calcium-dependent exocytosis. | ClinVar, PubMed |
| Intellectual disability | Rare SYT4 copy number variants have been reported in patients with neurodevelopmental delay, suggesting a role in cognitive function. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Pituitary gland | 8.3 | Medium |
| Adrenal gland | 6.1 | Medium |
| Testis | 4.2 | Low |
| Pancreas | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| U-87 MG (glioblastoma) | 9.7 | Glial origin |
| HEK 293 (embryonic kidney) | 2.1 | Low expression |
| HeLa (cervical carcinoma) | 1.5 | Minimal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045G>A (p.Gly349Arg) | Missense | <0.01% | Altered calcium binding affinity |
| c.1237C>T (p.Arg413Trp) | Missense | <0.01% | Reduced synaptic vesicle docking |
| c.154_155insA (p.Thr52Asnfs*3) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants that truncate the protein, impairing calcium sensing and vesicle fusion.
Gain of Function (GOF)
Not well documented; missense variants may alter calcium sensitivity but no clear gain-of-function reported.
Dominant Negative (DN)
Missense variants in the C2 domains may interfere with wild-type synaptotagmin 4 function in hetero-oligomeric complexes.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding (GO:0005509) | • synaptic vesicle exocytosis (GO:0016079) |
| • exocytosis (GO:0006887) | • synaptic vesicle transport (GO:0048489) |
| • SNARE binding (GO:0000149) |
Pathways
• Synaptic vesicle cycle (Reactome R-HSA-421837)
• Neurotransmitter release (KEGG hsa04728)
• Calcium signaling pathway (KEGG hsa04020)
Protein Summary
Synaptotagmin 4 is a 425-amino acid protein with an N-terminal transmembrane domain and two C2 domains (C2A and C2B) that bind calcium and phospholipids. It localizes to synaptic vesicles and dense-core vesicles, where it regulates calcium-dependent exocytosis. Unlike other synaptotagmins, SYT4 lacks a conserved calcium-binding residue in the C2A domain, suggesting distinct regulatory properties.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYT4 Knockout HEK293 Cell Line | EDJ-KQ5881 | Human | 6860 | Details Get a Quote |
| SYT4 Knockout HeLa Cell Line | EDJ-KQ54602 | Human | 6860 | Details Get a Quote |
| SYT4 Knockout A-549 Cell Line | EDJ-KQ63082 | Human | 6860 | Details Get a Quote |
| SYT4 Knockout HCT 116 Cell Line | EDJ-KQ71556 | Human | 6860 | Details Get a Quote |
