SYT8: Synaptotagmin 8
A member of the synaptotagmin family involved in vesicle trafficking and membrane fusion.
Gene Information Card
| Symbol | SYT8 |
|---|---|
| Full Name | Synaptotagmin 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.5 |
| NCBI Gene ID | 90019 ncbi.nlm.nih.gov/gene/90019 |
| Ensembl ID | ENSG00000149084 |
| UniProt ID | Q8NBJ9 |
| OMIM ID | 610964 |
| HGNC ID | 19252 |
| Aliases | SYT8, synaptotagmin VIII |
Description
SYT8 (synaptotagmin 8) is a protein-coding gene belonging to the synaptotagmin family. Synaptotagmins are membrane-trafficking proteins characterized by an N-terminal transmembrane region and two C-terminal C2 domains (C2A and C2B) that bind calcium and phospholipids. SYT8 is involved in vesicle fusion and exocytosis, particularly in non-neuronal tissues. It is expressed in various tissues including the brain, kidney, and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No evidence in ClinVar or OMIM as of current data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 3.2 | Low |
| Kidney | 2.1 | Low |
| Testis | 1.8 | Low |
| Lung | 1.5 | Low |
| Liver | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 2.5 | Low expression |
| HeLa | 1.8 | Low expression |
| K562 | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function mutations in human disease.
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) | • synaptic vesicle exocytosis (GO:0016079) |
| • vesicle fusion (GO:0006906) | • integral component of membrane (GO:0016021) |
Pathways
• Synaptic vesicle cycle (Reactome: R-HSA-421837)
• Membrane trafficking (Reactome: R-HSA-199991)
Protein Summary
Synaptotagmin 8 is a 403-amino acid protein with a molecular weight of approximately 46 kDa. It contains a single transmembrane domain and two C2 domains (C2A and C2B). The C2 domains mediate calcium-dependent phospholipid binding, which is essential for vesicle fusion. Unlike neuronal synaptotagmins, SYT8 is more broadly expressed and may function in constitutive or regulated exocytosis in non-neuronal cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYT8 Knockout HEK293 Cell Line | EDJ-KQ10549 | Human | 90019 | Details Get a Quote |
| SYT8 Knockout HeLa Cell Line | EDJ-KQ57754 | Human | 90019 | Details Get a Quote |
| SYT8 Knockout A-549 Cell Line | EDJ-KQ66248 | Human | 90019 | Details Get a Quote |
| SYT8 Knockout HCT 116 Cell Line | EDJ-KQ74670 | Human | 90019 | Details Get a Quote |
