SYPL2 Gene - Synaptophysin Like 2
Genetic, structural, and functional insights into SYPL2 (synaptophysin-like 2), a protein involved in vesicle trafficking and muscle physiology.
Gene Information Card
| Symbol | SYPL2 |
|---|---|
| Full Name | synaptophysin like 2 |
| Gene Type | protein coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 284439 ncbi.nlm.nih.gov/gene/284439 |
| Ensembl ID | ENSG00000143199 |
| UniProt ID | Q5VXU1 |
| OMIM ID | 611482 |
| HGNC ID | 20618 |
| Aliases | SYPL2, synaptophysin-like 2, MGC29643 |
Description
SYPL2 (synaptophysin like 2) is a protein-coding gene located on chromosome 1q21.3. It encodes a member of the synaptophysin family, which are integral membrane proteins associated with synaptic vesicles and small clear vesicles. SYPL2 is specifically expressed in skeletal muscle and is involved in vesicle trafficking and calcium-dependent exocytosis. It is also known as a component of the calcium release channel complex in the sarcoplasmic reticulum, playing a role in muscle excitation-contraction coupling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No direct disease association reported in OMIM or ClinVar as of current data. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | High | High expression (nTPM > 50) |
| Heart | Low | Low expression (nTPM < 10) |
| Brain | Low | Low expression (nTPM < 5) |
| Other tissues | Not detected | Minimal or no expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Skeletal muscle cells (e.g., myotubes) | High | High expression in muscle cell lines |
| Cardiomyocytes | Low | Low expression in cardiac cell lines |
| HeLa | Not detected | No significant expression |
| HEK293 | Not detected | No significant expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No common variants | Not applicable | No population frequency data | No known pathogenic variants |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations have been characterized in SYPL2.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative effects have been described.
View complete mutation data：
Gene Ontology (GO)
| • synaptic vesicle membrane | • integral component of membrane |
| • protein binding | • calcium ion binding |
| • exocytosis | • vesicle-mediated transport |
Pathways
• Synaptic vesicle cycle
• Calcium signaling pathway
• Muscle contraction
Protein Summary
The SYPL2 protein is a 29 kDa integral membrane protein with four transmembrane domains, belonging to the synaptophysin family. It is predominantly expressed in skeletal muscle, where it localizes to the sarcoplasmic reticulum and interacts with the ryanodine receptor (RyR1) and other components of the calcium release machinery. SYPL2 is involved in the regulation of calcium release during muscle contraction and may play a role in vesicle trafficking in muscle cells. Its precise function is still under investigation, but it is considered a potential modulator of excitation-contraction coupling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYPL2 Knockout HEK293 Cell Line | EDJ-KQ15585 | Human | 284612 | Details Get a Quote |
| SYPL2 Knockout HCT 116 Cell Line | EDJ-KQ46453 | Human | 284612 | Details Get a Quote |
| SYPL2 Knockout HeLa Cell Line | EDJ-KQ59482 | Human | 284612 | Details Get a Quote |
| SYPL2 Knockout A-549 Cell Line | EDJ-KQ67948 | Human | 284612 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
