SYT17 (Synaptotagmin 17)
A member of the synaptotagmin family involved in vesicle trafficking and calcium-dependent membrane fusion.
Gene Information Card
| Symbol | SYT17 |
|---|---|
| Full Name | Synaptotagmin 17 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 51760 ncbi.nlm.nih.gov/gene/51760 |
| Ensembl ID | ENSG00000103599 |
| UniProt ID | Q9BSW2 |
| OMIM ID | 614429 |
| HGNC ID | 18279 |
| Aliases | FLJ20035, KIAA1464, SytXVII |
Description
SYT17 encodes synaptotagmin 17, a member of the synaptotagmin family that functions as a calcium sensor in vesicle trafficking and exocytosis. It is involved in calcium-dependent membrane fusion and may play a role in neurotransmitter release and hormone secretion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Medium |
| Testis | 3.8 | Low |
| Lung | 1.5 | Low |
| Heart | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 2.1 | Neuroblastoma cell line |
| HeLa | 0.5 | Cervical carcinoma |
| HEK 293 | 0.3 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data
Gain of Function (GOF)
No data
Dominant Negative (DN)
No data
View complete mutation data：
Gene Ontology (GO)
| • calcium-dependent phospholipid binding (GO:0005544) | • synaptic vesicle exocytosis (GO:0016079) |
| • synaptic vesicle membrane (GO:0030672) | • metal ion binding (GO:0046872) |
Pathways
• Synaptic vesicle cycle (Reactome: R-HSA-421837)
• Neurotransmitter release (KEGG: hsa04721)
Protein Summary
Synaptotagmin 17 is a 426-amino acid protein containing two C2 domains (C2A and C2B) that mediate calcium-dependent phospholipid binding. It is localized to synaptic vesicles and regulates exocytosis. Expression is highest in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYT17 Knockout HEK293 Cell Line | EDJ-KQ11215 | Human | 51760 | Details Get a Quote |
| SYT17 Knockout A-549 Cell Line | EDJ-KQ39278 | Human | 51760 | Details Get a Quote |
| SYT17 Knockout HCT 116 Cell Line | EDJ-KQ39279 | Human | 51760 | Details Get a Quote |
| SYT17 Knockout HeLa Cell Line | EDJ-KQ39280 | Human | 51760 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
