SYNGR1 Gene: Synaptogyrin 1
A comprehensive biomedical resource for SYNGR1, including gene information, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | SYNGR1 |
|---|---|
| Full Name | synaptogyrin 1 |
| Gene Type | protein coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 9145 ncbi.nlm.nih.gov/gene/9145 |
| Ensembl ID | ENSG00000100221 |
| UniProt ID | O43759 |
| OMIM ID | 604270 |
| HGNC ID | 11502 |
| Aliases | SYNGR1a, SYNGR1b, synaptogyrin-1 |
Description
SYNGR1 (synaptogyrin 1) is a protein-coding gene located on chromosome 22q13.1. It encodes a synaptic vesicle membrane protein involved in neurotransmitter release and synaptic plasticity. The gene is expressed predominantly in the brain and is associated with neurological and psychiatric disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered synaptic vesicle cycling and neurotransmitter release | ClinVar: association studies; PMID: 20628086 |
| Bipolar disorder | Dysregulation of synaptic function | ClinVar: risk variant reported; PMID: 21353195 |
| Autism spectrum disorder | Synaptic gene network disruption | ClinVar: rare variants; PMID: 22495306 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 24.5 | High |
| Brain (cerebellum) | 18.2 | Medium |
| Testis | 3.1 | Low |
| Heart | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.8 | Neuronal model |
| U-87 MG (glioblastoma) | 8.4 | Glial model |
| HEK 293 (embryonic kidney) | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Pro67Leu) | Missense | 0.001% (gnomAD) | Unknown; predicted damaging by SIFT |
| c.340G>A (p.Gly114Arg) | Missense | 0.0005% (gnomAD) | Unknown; predicted tolerated |
| c.421_423del (p.Lys141del) | In-frame deletion | 0.0001% (gnomAD) | Unknown; may affect protein structure |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • synaptic vesicle (GO:0008021) | • synaptic vesicle exocytosis (GO:0016079) |
| • synapse (GO:0045202) | • plasma membrane (GO:0005886) |
Pathways
• Synaptic vesicle cycle (Reactome: R-HSA-421837)
• Neurotransmitter release cycle (Reactome: R-HSA-112310)
Protein Summary
Synaptogyrin 1 is a 25 kDa integral membrane protein with four transmembrane domains, localized to synaptic vesicles. It belongs to the synaptogyrin family and is involved in regulating synaptic vesicle exocytosis and endocytosis. The protein interacts with other synaptic proteins such as synaptophysin and is essential for normal neurotransmitter release.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYNGR1 Knockout HEK293 Cell Line | EDJ-KQ6475 | Human | 9145 | Details Get a Quote |
| SYNGR1 Knockout A-549 Cell Line | EDJ-KQ30579 | Human | 9145 | Details Get a Quote |
| SYNGR1 Knockout HCT 116 Cell Line | EDJ-KQ30580 | Human | 9145 | Details Get a Quote |
| SYNGR1 Knockout HeLa Cell Line | EDJ-KQ30581 | Human | 9145 | Details Get a Quote |
