SYT9: Synaptotagmin 9
A calcium sensor regulating exocytosis in neurons and endocrine cells
Gene Information Card
| Symbol | SYT9 |
|---|---|
| Full Name | synaptotagmin 9 |
| Gene Type | protein-coding |
| Chromosomal Location | 11p15.5 |
| NCBI Gene ID | 143475 ncbi.nlm.nih.gov/gene/143475 |
| Ensembl ID | ENSG00000170759 |
| UniProt ID | Q86SS6 |
| OMIM ID | 613528 |
| HGNC ID | 18667 |
| Aliases | KIAA1428, SytIX |
Description
SYT9 encodes synaptotagmin 9, a member of the synaptotagmin family that functions as a calcium sensor in the regulation of exocytosis. It is predominantly expressed in the brain and endocrine tissues, where it mediates calcium-dependent vesicle fusion and neurotransmitter or hormone release.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diabetes mellitus (type 2) | Altered insulin secretion due to impaired calcium-sensing in pancreatic beta cells | PMID: 19096309 |
| Bipolar disorder | Potential dysregulation of neurotransmitter release in synaptic vesicles | PMID: 21926972 |
| Schizophrenia | Association with synaptic dysfunction and altered exocytosis | PMID: 21926972 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Pancreas | 8.3 | Low |
| Pituitary gland | 15.2 | Medium |
| Adrenal gland | 6.7 | Low |
| Testis | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 18.9 | Neuronal model |
| MIN6 (pancreatic beta cell) | 22.4 | Insulin secretion model |
| HeLa (cervical carcinoma) | 2.1 | Low expression |
| HEK293 (embryonic kidney) | 3.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1042C>T (p.Arg348Cys) | Missense | 0.001% (gnomAD) | Unknown functional impact |
| c.157G>A (p.Gly53Arg) | Missense | 0.002% (gnomAD) | Potential loss of calcium binding |
| c.1234_1236del (p.Lys412del) | In-frame deletion | Rare | Altered C2 domain structure |
Mutation functional classification
Loss of Function (LOF)
Missense variants in the C2 domains may impair calcium binding and reduce exocytosis efficiency.
Gain of Function (GOF)
Not reported in SYT9.
Dominant Negative (DN)
Not reported in SYT9.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding (GO:0005509) | • synaptic vesicle exocytosis (GO:0016079) |
| • positive regulation of exocytosis (GO:0048270) | • exocytosis (GO:0006887) |
| • synaptic vesicle membrane (GO:0030672) |
Pathways
• Synaptic vesicle cycle (Reactome: R-HSA-421837)
• Calcium-dependent exocytosis of neurotransmitters (Reactome: R-HSA-112310)
Protein Summary
Synaptotagmin 9 is a 386-amino acid protein containing two C2 domains (C2A and C2B) that bind calcium ions. It localizes to synaptic vesicle membranes and regulates calcium-triggered exocytosis. The protein is highly expressed in the brain and pancreatic islets, playing a role in neurotransmitter and hormone secretion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYT9 Knockout HEK293 Cell Line | EDJ-KQ10380 | Human | 143425 | Details Get a Quote |
| SYT9 Knockout HeLa Cell Line | EDJ-KQ58485 | Human | 143425 | Details Get a Quote |
| SYT9 Knockout A-549 Cell Line | EDJ-KQ66974 | Human | 143425 | Details Get a Quote |
| SYT9 Knockout HCT 116 Cell Line | EDJ-KQ75373 | Human | 143425 | Details Get a Quote |
