SYT7 Gene: Synaptotagmin 7
Calcium sensor regulating exocytosis, neurotransmitter release, and insulin secretion
Gene Information Card
| Symbol | SYT7 |
|---|---|
| Full Name | synaptotagmin 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q12.2 |
| NCBI Gene ID | 9066 ncbi.nlm.nih.gov/gene/9066 |
| Ensembl ID | ENSG00000110395 |
| UniProt ID | O43581 |
| OMIM ID | 604146 |
| HGNC ID | 11510 |
| Aliases | SYT7, SytVII, PCANAP7, IPCA-7 |
Description
SYT7 (synaptotagmin 7) encodes a member of the synaptotagmin family, which are calcium sensors that regulate membrane trafficking and exocytosis. SYT7 is involved in calcium-dependent exocytosis of secretory vesicles, neurotransmitter release, and insulin secretion from pancreatic beta cells. It also plays a role in lysosomal exocytosis and plasma membrane repair.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diabetes Mellitus, Type 2 | Impaired insulin secretion due to reduced SYT7 function in pancreatic beta cells | PMID: 19074966 |
| Neurodevelopmental Disorders | Altered calcium-dependent neurotransmitter release affecting synaptic transmission | PMID: 28459449 |
| Cancer (various) | Dysregulated exocytosis and cell signaling; overexpression in prostate cancer | PMID: 11551966 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | High |
| Pancreas | 12.8 | High |
| Lung | 8.5 | Medium |
| Liver | 3.1 | Low |
| Heart | 5.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 18.7 | Neuronal model |
| MIN6 (beta cell) | 22.3 | Pancreatic beta cell line |
| HeLa (cervical carcinoma) | 6.2 | Epithelial cell line |
| HEK293 (embryonic kidney) | 4.8 | Common cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338Trp) | Missense | Rare | Altered calcium binding affinity |
| c.1456G>A (p.Gly486Ser) | Missense | Rare | Reduced exocytosis efficiency |
| c.1789_1791del (p.Phe597del) | Deletion | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and deletion variants impair calcium sensing and exocytosis, leading to reduced insulin secretion and neurotransmitter release.
Gain of Function (GOF)
Not well documented; no clear gain-of-function variants reported.
Dominant Negative (DN)
Possible for some missense variants that interfere with wild-type SYT7 function in multimeric complexes.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Synaptic vesicle cycle (Reactome: R-HSA-421837)
• Calcium-dependent exocytosis (Reactome: R-HSA-114608)
• Insulin secretion (KEGG: hsa04911)
Protein Summary
Synaptotagmin 7 is a 403-amino acid protein with an N-terminal transmembrane domain and two C2 domains (C2A and C2B) that bind calcium and phospholipids. It acts as a calcium sensor for fast, synchronous neurotransmitter release and for lysosomal exocytosis. The protein is essential for insulin granule exocytosis in pancreatic beta cells and for plasma membrane repair.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYT7 Knockout HEK293 Cell Line | EDJ-KQ6449 | Human | 9066 | Details Get a Quote |
| SYT7 Knockout A-549 Cell Line | EDJ-KQ30516 | Human | 9066 | Details Get a Quote |
| SYT7 Knockout HCT 116 Cell Line | EDJ-KQ30517 | Human | 9066 | Details Get a Quote |
| SYT7 Knockout HeLa Cell Line | EDJ-KQ55069 | Human | 9066 | Details Get a Quote |
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