SYT14: Synaptotagmin 14
A non-neuronal synaptotagmin involved in cerebellar development and associated with autosomal recessive spinocerebellar ataxia
Gene Information Card
| Symbol | SYT14 |
|---|---|
| Full Name | Synaptotagmin 14 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q32.2 |
| NCBI Gene ID | 255928 ncbi.nlm.nih.gov/gene/255928 |
| Ensembl ID | ENSG00000143469 |
| UniProt ID | Q8N9I0 |
| OMIM ID | 610949 |
| HGNC ID | 22987 |
| Aliases | SYT14, SCAR11 |
Description
SYT14 encodes synaptotagmin 14, a member of the synaptotagmin family that acts as a calcium sensor in membrane trafficking. Unlike most synaptotagmins, SYT14 is predominantly expressed in non-neuronal tissues, particularly in the cerebellum. It plays a critical role in cerebellar development and function. Biallelic loss-of-function mutations in SYT14 cause autosomal recessive spinocerebellar ataxia 11 (SCAR11), characterized by early-onset cerebellar atrophy and progressive ataxia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinocerebellar ataxia, autosomal recessive 11 (SCAR11) | Loss of SYT14 function disrupts calcium-dependent membrane trafficking in cerebellar cells, leading to Purkinje cell degeneration and atrophy. | OMIM #614229; multiple families with homozygous truncating mutations |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebellum | 12.3 | Medium |
| Cerebral cortex | 1.2 | Low |
| Testis | 0.8 | Low |
| Heart | 0.5 | Low |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 2.1 | Low expression |
| HEK293 (embryonic kidney) | 0.4 | Not detected |
| U-87 MG (glioblastoma) | 1.0 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.940C>T (p.Arg314*) | Nonsense | Rare | Loss of function; truncates protein before C2B domain |
| c.1129C>T (p.Arg377*) | Nonsense | Rare | Loss of function; truncates protein in C2B domain |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no translation initiation |
Mutation functional classification
Loss of Function (LOF)
All reported pathogenic SYT14 mutations are loss-of-function (nonsense, frameshift, start loss) leading to nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • clathrin-dependent endocytosis |
| • membrane trafficking | • synaptic vesicle exocytosis |
| • regulation of neurotransmitter secretion |
Pathways
• Synaptic vesicle cycle
• Calcium signaling pathway
Protein Summary
Synaptotagmin 14 is a 434-amino acid protein containing an N-terminal transmembrane domain and two C-terminal C2 domains (C2A and C2B) that bind calcium and phospholipids. It is involved in calcium-regulated membrane fusion and endocytosis. Unlike neuronal synaptotagmins, SYT14 is enriched in the cerebellum and non-neuronal tissues, suggesting a specialized role in cerebellar development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYT14 Knockout HEK293 Cell Line | EDJ-KQ11812 | Human | 255928 | Details Get a Quote |
| SYT14 Knockout HeLa Cell Line | EDJ-KQ59289 | Human | 255928 | Details Get a Quote |
| SYT14 Knockout A-549 Cell Line | EDJ-KQ67756 | Human | 255928 | Details Get a Quote |
| SYT14 Knockout HCT 116 Cell Line | EDJ-KQ76140 | Human | 255928 | Details Get a Quote |
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