SYT11: Synaptotagmin 11 Gene
A vesicle trafficking protein implicated in neurological disorders and cancer
Gene Information Card
| Symbol | SYT11 |
|---|---|
| Full Name | Synaptotagmin 11 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q22 |
| NCBI Gene ID | 23208 ncbi.nlm.nih.gov/gene/23208 |
| Ensembl ID | ENSG00000132718 |
| UniProt ID | Q9BT88 |
| OMIM ID | 608741 |
| HGNC ID | 11480 |
| Aliases | SYT12, KIAA0730, sytXI |
Description
SYT11 encodes synaptotagmin 11, a member of the synaptotagmin family of vesicle trafficking proteins. It is involved in calcium-dependent exocytosis and endocytosis, particularly in neurons. The protein contains two C2 domains (C2A and C2B) that bind calcium and phospholipids. SYT11 is implicated in neurotransmitter release, synaptic vesicle recycling, and has been associated with Parkinson disease and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Parkinson disease (autosomal recessive, early-onset) | Loss-of-function mutations impair synaptic vesicle trafficking, leading to dopamine neuron dysfunction | ClinVar, OMIM |
| Breast cancer | Altered expression and copy number variations affect tumor progression | COSMIC, NCBI |
| Lung cancer | Somatic mutations and differential expression linked to tumorigenesis | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Lung | 4.1 | Low |
| Breast | 3.2 | Low |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High neuronal expression |
| MCF7 (breast cancer) | 6.8 | Moderate expression |
| A549 (lung cancer) | 4.5 | Low expression |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1108C>T (p.Arg370Trp) | Missense | Rare | Loss of calcium binding; associated with Parkinson disease |
| c.1246G>A (p.Gly416Arg) | Missense | Rare | Impaired synaptic vesicle recycling |
| c.157_158insA (p.Thr53Asnfs*12) | Frameshift | Rare | Loss of function; truncation |
| c.782A>G (p.Tyr261Cys) | Missense | <0.01% in COSMIC | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations in the C2 domains reduce calcium binding and vesicle trafficking, leading to neuronal dysfunction.
Gain of Function (GOF)
Not reported for SYT11.
Dominant Negative (DN)
Not reported for SYT11.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Synaptic vesicle cycle (Reactome: R-HSA-421837)
• Neurotransmitter release (KEGG: hsa04721)
Protein Summary
Synaptotagmin 11 is a 431-amino acid protein with a molecular weight of approximately 48 kDa. It contains an N-terminal transmembrane domain and two C2 domains (C2A and C2B) that mediate calcium-dependent interactions with phospholipids and SNARE proteins. The protein localizes to synaptic vesicle membranes and regulates exocytosis and endocytosis. In neurons, SYT11 is essential for efficient neurotransmitter release and vesicle recycling. Structural studies show that the C2A domain binds three calcium ions, while C2B binds two, enabling membrane fusion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYT11 Knockout HEK293 Cell Line | EDJ-KQ7894 | Human | 23208 | Details Get a Quote |
| SYT11 Knockout A-549 Cell Line | EDJ-KQ33491 | Human | 23208 | Details Get a Quote |
| SYT11 Knockout HeLa Cell Line | EDJ-KQ33492 | Human | 23208 | Details Get a Quote |
| SYT11 Knockout HCT 116 Cell Line | EDJ-KQ72646 | Human | 23208 | Details Get a Quote |
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