SYNGR4 Gene - Synaptogyrin 4
A member of the synaptogyrin family involved in synaptic vesicle trafficking and neuronal signaling.
Gene Information Card
| Symbol | SYNGR4 |
|---|---|
| Full Name | Synaptogyrin 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 23546 ncbi.nlm.nih.gov/gene/23546 |
| Ensembl ID | ENSG00000105675 |
| UniProt ID | Q9H0M0 |
| OMIM ID | 617823 |
| HGNC ID | 11537 |
| Aliases | SYNGR4, synaptogyrin-4, p24 |
Description
SYNGR4 encodes synaptogyrin 4, a member of the synaptogyrin family of synaptic vesicle membrane proteins. It is involved in the regulation of neurotransmitter release and synaptic vesicle trafficking. The protein contains four transmembrane domains and is predominantly expressed in the brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered synaptic vesicle dynamics may contribute to neurotransmitter imbalance; SYNGR4 expression changes observed in postmortem brain studies. | PMID: 25664854 |
| Bipolar disorder | Differential expression of SYNGR4 in prefrontal cortex suggests involvement in synaptic plasticity and mood regulation. | PMID: 25664854 |
| Major depressive disorder | Reduced SYNGR4 expression linked to synaptic dysfunction in depression models. | PMID: 25664854 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Cerebellum | 8.3 | Low |
| Testis | 4.1 | Low |
| Heart | 2.0 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| U-87 MG (glioblastoma) | 9.8 | Glial model |
| HEK 293 (embryonic kidney) | 1.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Pro67Leu) | Missense | <0.01% | Unknown; predicted benign by SIFT |
| c.340G>A (p.Val114Met) | Missense | <0.01% | Unknown; predicted tolerated |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in COSMIC or ClinVar.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • synaptic vesicle (GO:0008021) | • integral component of membrane (GO:0016021) |
| • neurotransmitter secretion (GO:0007269) | • synapse (GO:0045202) |
Pathways
• Synaptic vesicle cycle (Reactome: R-HSA-421837)
• Neurotransmitter release cycle (Reactome: R-HSA-112310)
Protein Summary
Synaptogyrin 4 is a 224-amino acid transmembrane protein with four membrane-spanning domains. It localizes to synaptic vesicles and is thought to modulate vesicle exocytosis and endocytosis. The protein is highly expressed in brain regions involved in cognition and emotion, and its dysregulation has been implicated in neuropsychiatric disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYNGR4 Knockout HEK293 Cell Line | EDJ-KQ8056 | Human | 23546 | Details Get a Quote |
| SYNGR4 Knockout A-549 Cell Line | EDJ-KQ33877 | Human | 23546 | Details Get a Quote |
| SYNGR4 Knockout HeLa Cell Line | EDJ-KQ55765 | Human | 23546 | Details Get a Quote |
| SYNGR4 Knockout HCT 116 Cell Line | EDJ-KQ72707 | Human | 23546 | Details Get a Quote |
