SYT12: Synaptotagmin 12 Gene
A calcium sensor involved in vesicle trafficking and neurotransmitter release
Gene Information Card
| Symbol | SYT12 |
|---|---|
| Full Name | Synaptotagmin 12 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 91683 ncbi.nlm.nih.gov/gene/91683 |
| Ensembl ID | ENSG00000173207 |
| UniProt ID | Q8IV01 |
| OMIM ID | 609679 |
| HGNC ID | 19248 |
| Aliases | SRG1, sytXII |
Description
SYT12 (synaptotagmin 12) encodes a member of the synaptotagmin family, which are calcium sensors involved in membrane trafficking and exocytosis. SYT12 is predominantly expressed in the brain and plays a role in regulating neurotransmitter release, synaptic vesicle recycling, and calcium-dependent membrane fusion. It is also implicated in certain cancers and neurological conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | SYT12 overexpression may promote tumor cell migration and invasion through altered calcium signaling and vesicle trafficking. | COSMIC; PMID: 25691885 |
| Glioma | SYT12 is upregulated in glioblastoma and associated with poor prognosis, potentially via modulation of synaptic-like vesicle release in tumor cells. | COSMIC; PMID: 29187737 |
| Schizophrenia | SYT12 variants have been linked to altered synaptic function and neurotransmitter release, contributing to disease risk. | ClinVar; PMID: 23933820 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Brain (cerebellum) | 10.2 | Medium |
| Testis | 3.1 | Low |
| Lung | 1.8 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | Neuronal model; high expression |
| U87MG (glioblastoma) | 8.7 | Cancer cell line; moderate expression |
| MCF7 (breast cancer) | 4.2 | Low expression |
| HEK293 (embryonic kidney) | 0.9 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown; predicted damaging by SIFT |
| c.1420G>A (p.Glu474Lys) | Missense | <0.01% | Unknown; predicted benign |
| c.1762_1763insA (p.Thr588Asnfs*2) | Frameshift | <0.01% | Loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Thr588Asnfs*2) are predicted to cause loss of function by truncating the C-terminal C2 domain, impairing calcium binding and vesicle fusion.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in SYT12.
Dominant Negative (DN)
No dominant-negative mutations described for SYT12.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding (GO:0005509) | • vesicle fusion (GO:0006906) |
| • synaptic vesicle exocytosis (GO:0016079) | • synaptic vesicle membrane (GO:0030672) |
| • synaptic vesicle transport (GO:0048489) |
Pathways
• Synaptic vesicle cycle (KEGG: hsa04721)
• Calcium signaling pathway (KEGG: hsa04020)
• Neurotransmitter release cycle (Reactome: R-HSA-112310)
Protein Summary
Synaptotagmin 12 is a 588-amino acid protein with an N-terminal transmembrane domain and two C-terminal C2 domains (C2A and C2B) that bind calcium and phospholipids. It localizes to synaptic vesicle membranes and regulates calcium-triggered exocytosis. Unlike other synaptotagmins, SYT12 may have both calcium-dependent and calcium-independent functions, modulating vesicle trafficking in neurons and potentially in cancer cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYT12 Knockout HEK293 Cell Line | EDJ-KQ10773 | Human | 91683 | Details Get a Quote |
| SYT12 Knockout A-549 Cell Line | EDJ-KQ37093 | Human | 91683 | Details Get a Quote |
| SYT12 Knockout HCT 116 Cell Line | EDJ-KQ38387 | Human | 91683 | Details Get a Quote |
| SYT12 Knockout HeLa Cell Line | EDJ-KQ38388 | Human | 91683 | Details Get a Quote |
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