SYT10 (Synaptotagmin 10)
Calcium sensor involved in vesicle trafficking and exocytosis
Gene Information Card
| Symbol | SYT10 |
|---|---|
| Full Name | Synaptotagmin 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 12p11.1 |
| NCBI Gene ID | 341359 ncbi.nlm.nih.gov/gene/341359 |
| Ensembl ID | ENSG00000111224 |
| UniProt ID | Q6XYQ8 |
| OMIM ID | 608363 |
| HGNC ID | 19266 |
| Aliases | SytX, synaptotagmin X |
Description
SYT10 encodes synaptotagmin 10, a member of the synaptotagmin family that functions as a calcium sensor in vesicle trafficking and exocytosis. It contains two C2 domains (C2A and C2B) that bind calcium and phospholipids, regulating membrane fusion events. SYT10 is predominantly expressed in the brain and is involved in neurotransmitter release and hormone secretion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Disrupted calcium-dependent exocytosis due to SYT10 loss-of-function variants | ClinVar |
| Autism spectrum disorder | Impaired synaptic vesicle fusion and neurotransmitter release | ClinVar |
| Schizophrenia | Altered SYT10 expression affecting synaptic plasticity | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Brain (cerebellum) | 8.3 | Low |
| Testis | 3.1 | Low |
| Pituitary gland | 2.7 | Low |
| Adrenal gland | 1.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| U-87 MG (glioblastoma) | 6.8 | Glial model |
| HEK293 (embryonic kidney) | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1042C>T (p.Arg348*) | Nonsense | <0.01% | Loss of function; truncated protein |
| c.763G>A (p.Gly255Arg) | Missense | <0.01% | Impaired calcium binding |
| c.1234_1235del (p.Lys412Glufs*3) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants lead to truncated or absent protein, impairing calcium-dependent exocytosis.
Gain of Function (GOF)
No gain-of-function mutations reported in SYT10.
Dominant Negative (DN)
Missense variants in C2 domains may interfere with wild-type protein function in heterozygous state.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • calcium-dependent phospholipid binding |
| • clathrin binding | • synaptic vesicle exocytosis |
| • regulation of neurotransmitter secretion | • membrane fusion |
Pathways
• Synaptic vesicle cycle (Reactome R-HSA-421837)
• Calcium-dependent exocytosis (Reactome R-HSA-114608)
Protein Summary
Synaptotagmin 10 is a 596-amino acid protein with an N-terminal transmembrane domain, a linker region, and two C-terminal C2 domains (C2A and C2B). It localizes to synaptic vesicles and dense-core vesicles, where it acts as a calcium sensor to trigger membrane fusion. The C2A domain binds three calcium ions, while C2B binds two, promoting interaction with SNARE proteins and phospholipids. SYT10 is essential for spontaneous and evoked neurotransmitter release in central neurons.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYT10 Knockout HEK293 Cell Line | EDJ-KQ15586 | Human | 341359 | Details Get a Quote |
| SYT10 Knockout HeLa Cell Line | EDJ-KQ59708 | Human | 341359 | Details Get a Quote |
| SYT10 Knockout A-549 Cell Line | EDJ-KQ68181 | Human | 341359 | Details Get a Quote |
| SYT10 Knockout HCT 116 Cell Line | EDJ-KQ76556 | Human | 341359 | Details Get a Quote |
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