SYT5: Synaptotagmin 5
A calcium sensor regulating exocytosis and neurotransmitter release
Gene Information Card
| Symbol | SYT5 |
|---|---|
| Full Name | Synaptotagmin 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.42 |
| NCBI Gene ID | 6861 ncbi.nlm.nih.gov/gene/6861 |
| Ensembl ID | ENSG00000105699 |
| UniProt ID | O00445 |
| OMIM ID | 600755 |
| HGNC ID | 11510 |
| Aliases | SytV, synaptotagmin V |
Description
SYT5 encodes synaptotagmin 5, a member of the synaptotagmin family that functions as a calcium sensor in membrane trafficking. It is involved in calcium-dependent exocytosis of secretory vesicles, particularly in neuroendocrine cells and neurons. SYT5 regulates neurotransmitter release and hormone secretion by interacting with SNARE proteins and phospholipids.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered SYT5 expression may disrupt synaptic vesicle exocytosis, contributing to neurotransmitter imbalance. | NCBI Gene, ClinVar |
| Bipolar disorder | Differential expression of SYT5 in brain regions linked to mood regulation. | NCBI Gene |
| Diabetes (type 2) | SYT5 mediates insulin granule exocytosis in pancreatic beta cells; dysregulation impairs insulin secretion. | UniProt, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Pancreas | 8.3 | Low |
| Adrenal gland | 6.7 | Low |
| Testis | 4.2 | Low |
| Lung | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.0 | Neuronal model |
| MIN6 (pancreatic beta) | 9.8 | Insulin secretion studies |
| PC12 (pheochromocytoma) | 11.2 | Neuroendocrine model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112C>T (p.Arg38Cys) | Missense | <0.01% | Altered calcium binding affinity |
| c.457G>A (p.Glu153Lys) | Missense | <0.01% | Potential impact on SNARE interaction |
| c.789_790insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.789_790insA) likely cause loss of function by truncating the protein.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense variants (e.g., p.Arg38Cys) may act dominant-negative by impairing calcium sensing.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • clathrin binding |
| • phospholipid binding | • SNARE binding |
| • calcium-dependent phospholipid binding | • synaptic vesicle exocytosis |
| • regulation of exocytosis | • vesicle fusion |
Pathways
• Synaptic vesicle cycle (Reactome: R-HSA-421837)
• Neurotransmitter release (KEGG: hsa04728)
• Insulin secretion (KEGG: hsa04911)
Protein Summary
Synaptotagmin 5 is a 386-amino acid protein with an N-terminal transmembrane domain and two C2 domains (C2A and C2B) that bind calcium and phospholipids. It localizes to secretory vesicles and mediates calcium-triggered exocytosis. The protein interacts with syntaxin and SNAP-25 to facilitate vesicle fusion. Expression is enriched in brain and endocrine tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYT5 Knockout HEK293 Cell Line | EDJ-KQ5875 | Human | 6861 | Details Get a Quote |
| SYT5 Knockout HCT 116 Cell Line | EDJ-KQ29369 | Human | 6861 | Details Get a Quote |
| SYT5 Knockout HeLa Cell Line | EDJ-KQ54603 | Human | 6861 | Details Get a Quote |
| SYT5 Knockout A-549 Cell Line | EDJ-KQ63083 | Human | 6861 | Details Get a Quote |
