SYT2 (Synaptotagmin 2)
Key regulator of calcium-dependent neurotransmitter release at the neuromuscular junction
Gene Information Card
| Symbol | SYT2 |
|---|---|
| Full Name | Synaptotagmin 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 127833 ncbi.nlm.nih.gov/gene/127833 |
| Ensembl ID | ENSG00000143858 |
| UniProt ID | Q8N9I0 |
| OMIM ID | 600104 |
| HGNC ID | 11510 |
| Aliases | SytII, synaptotagmin II |
Description
SYT2 encodes synaptotagmin 2, a member of the synaptotagmin family that functions as a calcium sensor in the presynaptic terminal. It is predominantly expressed in the brain and at the neuromuscular junction, where it mediates calcium-triggered exocytosis of synaptic vesicles. SYT2 interacts with SNARE proteins and phospholipids to facilitate rapid neurotransmitter release. Mutations in SYT2 are associated with congenital myasthenic syndrome type 7 (CMS7), characterized by impaired neuromuscular transmission.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital myasthenic syndrome 7 (CMS7) | Loss-of-function mutations impair calcium-dependent synaptic vesicle fusion, reducing acetylcholine release at the neuromuscular junction. | ClinVar, OMIM |
| Myasthenic syndrome, congenital, with or without motor neuropathy | Dominant-negative or hypomorphic SYT2 variants disrupt presynaptic calcium sensing, leading to fatigable weakness. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | High |
| Spinal cord | 8.7 | Medium |
| Skeletal muscle | 2.1 | Low |
| Heart | 1.3 | Low |
| Liver | 0.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 12.5 | Neuronal model |
| U-87 MG (glioblastoma) | 6.8 | Glial expression |
| HeLa (cervical carcinoma) | 0.5 | Minimal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.923G>A (p.Arg308Gln) | Missense | Rare | Dominant-negative; reduces calcium affinity and delays synaptic vesicle fusion. |
| c.1126C>T (p.Arg376Trp) | Missense | Rare | Loss of function; impairs SNARE binding and exocytosis. |
| c.1370G>A (p.Arg457His) | Missense | Rare | Dominant-negative; disrupts calcium-dependent phospholipid binding. |
Mutation functional classification
Loss of Function (LOF)
Homozygous or compound heterozygous missense variants (e.g., p.Arg376Trp) reduce or abolish calcium-triggered exocytosis, leading to CMS7 with recessive inheritance.
Gain of Function (GOF)
Not reported for SYT2.
Dominant Negative (DN)
Heterozygous missense variants (e.g., p.Arg308Gln, p.Arg457His) interfere with wild-type SYT2 function, causing dominant CMS7 with impaired neurotransmitter release.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Synaptic vesicle cycle (Reactome: R-HSA-421837)
• Neurotransmitter release (KEGG: hsa04721)
• Calcium signaling pathway (KEGG: hsa04020)
Protein Summary
Synaptotagmin 2 is a 422-amino acid protein with an N-terminal transmembrane domain, a linker region, and two C2 domains (C2A and C2B) that bind calcium and phospholipids. It acts as a calcium sensor for fast synchronous neurotransmitter release. The C2B domain mediates SNARE complex interaction, while C2A facilitates membrane fusion. Mutations in the C2 domains impair calcium sensing and vesicle fusion, leading to neuromuscular transmission defects.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYT2 Knockout HEK293 Cell Line | EDJ-KQ9142 | Human | 127833 | Details Get a Quote |
| ESYT2 Knockout HEK293 Cell Line | EDC07553 | Human | 57488 | Details Get a Quote |
| ESYT2 Knockout A-549 Cell Line | EDJ-KQ42804 | Human | 57488 | Details Get a Quote |
| ESYT2 Knockout HCT 116 Cell Line | EDJ-KQ42805 | Human | 57488 | Details Get a Quote |
| ESYT2 Knockout HeLa Cell Line | EDJ-KQ42806 | Human | 57488 | Details Get a Quote |
| SYT2 Knockout HeLa Cell Line | EDJ-KQ58220 | Human | 127833 | Details Get a Quote |
| SYT2 Knockout A-549 Cell Line | EDJ-KQ66710 | Human | 127833 | Details Get a Quote |
| SYT2 Knockout HCT 116 Cell Line | EDJ-KQ75122 | Human | 127833 | Details Get a Quote |
| ESYT2 and ESYT3 Knockout HEK293 Cell Line | EDC07627 | Human | 57488 and 83850 | Details Get a Quote |
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