SYT6 Gene: Synaptotagmin 6
Comprehensive gene information for SYT6, a calcium sensor involved in vesicle trafficking and exocytosis.
Gene Information Card
| Symbol | SYT6 |
|---|---|
| Full Name | Synaptotagmin 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p13.2 |
| NCBI Gene ID | 148281 ncbi.nlm.nih.gov/gene/148281 |
| Ensembl ID | ENSG00000134202 |
| UniProt ID | Q5T7P8 |
| OMIM ID | 610544 |
| HGNC ID | 18639 |
| Aliases | SytVI, KIAA1227 |
Description
SYT6 encodes synaptotagmin 6, a member of the synaptotagmin family that functions as a calcium sensor in membrane trafficking. It is involved in calcium-dependent exocytosis and vesicle fusion, particularly in neuronal and endocrine cells. The protein contains two C2 domains (C2A and C2B) that bind calcium and phospholipids, regulating neurotransmitter and hormone release.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No direct evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.5 | Medium |
| Testis | 4.2 | Low |
| Pancreas | 3.1 | Low |
| Lung | 2.0 | Not detected |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 12.3 | Neuronal cell line |
| HeLa | 2.1 | Cervical cancer cell line |
| HEK293 | 1.8 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function mutations.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
No documented dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
| • calcium-dependent phospholipid binding (GO:0005544) | • calcium-ion regulated exocytosis (GO:0017156) |
| • vesicle fusion (GO:0006906) | • synaptic vesicle membrane (GO:0030672) |
Pathways
• Synaptic vesicle cycle (Reactome: R-HSA-421837)
• Calcium-dependent exocytosis (Reactome: R-HSA-114608)
Protein Summary
Synaptotagmin 6 is a 425-amino acid protein with a molecular weight of approximately 48 kDa. It contains an N-terminal transmembrane domain and two C-terminal C2 domains (C2A and C2B) that mediate calcium-dependent phospholipid binding. The protein localizes to synaptic vesicles and secretory granules, playing a role in fast calcium-triggered exocytosis. Expression is enriched in brain and endocrine tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYT6 Knockout HEK293 Cell Line | EDJ-KQ10744 | Human | 148281 | Details Get a Quote |
| SYT6 Knockout HeLa Cell Line | EDJ-KQ58606 | Human | 148281 | Details Get a Quote |
| SYT6 Knockout A-549 Cell Line | EDJ-KQ67087 | Human | 148281 | Details Get a Quote |
| SYT6 Knockout HCT 116 Cell Line | EDJ-KQ75496 | Human | 148281 | Details Get a Quote |
