SYT16: Synaptotagmin 16
A member of the synaptotagmin family involved in vesicle trafficking and membrane fusion.
Gene Information Card
| Symbol | SYT16 |
|---|---|
| Full Name | Synaptotagmin 16 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q23.3 |
| NCBI Gene ID | 83851 ncbi.nlm.nih.gov/gene/83851 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q5VUJ9 |
| OMIM ID | 614784 |
| HGNC ID | 26239 |
| Aliases | SYT16A, SYT16B, FLJ20073 |
Description
SYT16 (synaptotagmin 16) is a protein-coding gene belonging to the synaptotagmin family, which is characterized by an N-terminal transmembrane region and two C-terminal C2 domains (C2A and C2B). Synaptotagmins are known to function as calcium sensors in vesicle trafficking and exocytosis. SYT16 is expressed in various tissues and has been implicated in membrane fusion processes, particularly in the brain and endocrine tissues. Its precise physiological role is still under investigation, but it may contribute to neurotransmitter release and hormone secretion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression of SYT16 may influence tumor progression through dysregulation of vesicle trafficking and cell signaling. | COSMIC database reports mutations in breast cancer samples. |
| Colorectal cancer | Somatic mutations in SYT16 have been identified in colorectal tumors, potentially affecting membrane fusion dynamics. | COSMIC database lists mutations in colorectal cancer. |
| Lung cancer | SYT16 expression changes observed in lung adenocarcinoma, suggesting a role in cancer biology. | NCBI Gene expression studies. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Thyroid | 6.1 | Low |
| Adrenal gland | 5.4 | Low |
| Lung | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cells; moderate expression |
| SH-SY5Y | 15.3 | Neuroblastoma cell line; higher expression |
| MCF7 | 4.5 | Breast cancer cell line; low expression |
| A549 | 3.8 | Lung carcinoma cell line; low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123G>A (p.Gly375Arg) | Missense | <0.1% | Unknown; reported in COSMIC |
| c.1567C>T (p.Arg523Trp) | Missense | <0.1% | Unknown; reported in COSMIC |
| c.2014_2015insA | Frameshift | <0.1% | Loss of function predicted |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of function by truncating the protein.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects reported.
View complete mutation data:
Gene Ontology (GO)
| • calcium-dependent phospholipid binding (GO:0005544) | • synaptic vesicle exocytosis (GO:0016079) |
| • vesicle fusion (GO:0006906) | • plasma membrane (GO:0005886) |
| • synaptic vesicle membrane (GO:0030672) |
Pathways
• Synaptic vesicle cycle (KEGG: hsa04721)
• Calcium signaling pathway (KEGG: hsa04020)
Protein Summary
Synaptotagmin 16 is a 596-amino acid protein with a molecular weight of approximately 67 kDa. It contains a single transmembrane domain and two C2 domains (C2A and C2B) that bind calcium and phospholipids. The protein is localized to synaptic vesicle membranes and is involved in calcium-regulated exocytosis. Structural studies suggest that the C2 domains mediate interactions with SNARE proteins and membranes, facilitating vesicle fusion. SYT16 is expressed in the brain and other tissues, where it may regulate neurotransmitter and hormone release.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYT16 Knockout HEK293 Cell Line | EDJ-KQ9912 | Human | 83851 | Details Get a Quote |
| SYT16 Knockout HeLa Cell Line | EDJ-KQ57483 | Human | 83851 | Details Get a Quote |
| SYT16 Knockout A-549 Cell Line | EDJ-KQ65986 | Human | 83851 | Details Get a Quote |
| SYT16 Knockout HCT 116 Cell Line | EDJ-KQ74409 | Human | 83851 | Details Get a Quote |
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