SV2C Gene
SV2C Gene
Introduction
Sv2C Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
<div class="infobox infobox-gene"> [@chang2017]
<table> [@madeo2021]
<tr><th colspan="2" style="background:#f0f0f0;">Gene Overview</th></tr> [@mai2019]
<tr><td><strong>Gene Symbol</strong></td><td>SV2C</td></tr> [@yao2018]
<tr><td><strong>Full Name</strong></td><td>Synaptic Vesicle Glycoprotein 2C</td></tr>
<tr><td><strong>Chromosomal Location</strong></td><td>5q13.2</td></tr>
<tr><td><strong>NCBI Gene ID</strong></td><td>22983</td></tr>
<tr><td><strong>OMIM</strong></td><td>610516</td></tr>
<tr><td><strong>Ensembl ID</strong></td><td>ENSG00000170873</td></tr>
<tr><td><strong>UniProt ID</strong></td><td>Q9H0Y9</td></tr>
<tr><td><strong>Encoded Protein</strong></td><td>SV2C Protein</td></tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">1 edges</a></td>
</tr>
</table>
</div>
SV2C Gene
<div class="infobox infobox-gene">
<table>
<tr><th colspan="2" style="background:#f0f0f0;">Gene Overview</th></tr>
<tr><td><strong>Gene Symbol</strong></td><td>SV2C</td></tr>
<tr><td><strong>Full Name</strong></td><td>Synaptic Vesicle Glycoprotein 2C</td></tr>
<tr><td><strong>Chromosomal Location</strong></td><td>5q13.2</td></tr>
<tr><td><strong>NCBI Gene ID</strong></td><td>22983</td></tr>
<tr><td><strong>OMIM</strong></td><td>610516</td></tr>
<tr><td><strong>Ensembl ID</strong></td><td>ENSG00000170873</td></tr>
<tr><td><strong>UniProt ID</strong></td><td>Q9H0Y9</td></tr>
<tr><td><strong>Encoded Protein</strong></td><td>SV2C Protein</td></tr>
</table>
</div>
Overview
The SV2C gene (Synaptic Vesicle Glycoprotein 2C) encodes a critical component of synaptic vesicles. This gene is part of the SV2 family (SV2A, SV2B, SV2C) that is essential for proper synaptic function and neurotransmitter release. SV2C is particularly notable for its expression in dopaminergic [neurons](/entities/neurons) and its association with Parkinson's disease.
Function
The SV2C gene encodes Synaptic Vesicle Glycoprotein 2C, a member of the SV2 family of proteins that are essential components of synaptic vesicles. SV2C is one of three isoforms (SV2A, SV2B, SV2C) that function as transporters within the presynaptic vesicle membrane. The protein contains 12 transmembrane domains and is involved in the regulated exocytosis of neurotransmitters.
SV2C plays a critical role in synaptic vesicle cycling and neurotransmitter release. It is thought to function as a transporter for small molecules, although its precise substrate remains under investigation. The protein contributes to the maintenance of synaptic vesicle pools and the fidelity of neurotransmission.
In the brain, SV2C is expressed in various regions including the basal ganglia, [cortex](/brain-regions/cortex), [hippocampus](/brain-regions/hippocampus), and cerebellum. It shows particular enrichment in dopaminergic neurons of the substantia nigra and striatum, making it relevant to Parkinson's disease research.
Disease Associations
SV2C has been implicated in several neurodegenerative diseases:
Parkinson's Disease
Genetic Evidence:
SV2C genetic variants have been associated with PD risk in genome-wide association studies. The protein's expression in dopaminergic neurons and its role in synaptic vesicle function make it a candidate for PD pathogenesis.
- GWAS associations: Multiple studies have identified SV2C variants (rs1871678, rs6474359) as risk factors for sporadic PD
- Mechanism: SV2C modulates synaptic vesicle filling and priming, affecting dopamine release capacity
- Expression in SNc: SV2C shows particular enrichment in dopaminergic neurons of the substantia nigra pars compacta
- Interaction with alpha-synuclein: SV2C directly interacts with alpha-synuclein, which can deregulate vesicle cycling
- Therapeutic potential: SV2C modulators may enhance dopaminergic function in PD patients
Alzheimer's Disease (AD)
Altered SV2C expression has been reported in AD brain tissue. The protein may play a role in synaptic dysfunction, which is an early hallmark of AD pathophysiology.
- Synaptic dysfunction: SV2C expression reduced in AD brains, correlating with cognitive decline
- Therapeutic target: SV2A modulators (levetiracetam) show promise in AD clinical trials
- PET imaging: SV2A PET ligands can measure synaptic density in vivo
Epilepsy
SV2C mutations have been linked to epilepsy phenotypes in animal models. The protein's role in synaptic vesicle release suggests it may contribute to hyperexcitability disorders.
Schizophrenia
Expression
SV2C exhibits a distinct expression pattern in the brain:
- High Expression: Basal ganglia (caudate nucleus, putamen), substantia nigra pars compacta, hippocampus (CA3 region), cerebellar cortex
- Moderate Expression: Cerebral cortex (layers 2-6), amygdala, thalamus
- Low Expression: Spinal cord, peripheral nervous system
The expression of SV2C is developmentally regulated, with higher levels observed in the adult brain compared to embryonic stages.
Background
The study of Sv2C Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
See Also
- [SV2C Protein](/proteins/sv2c-protein)
- [Parkinson's Disease](/diseases/parkinsons-disease)
- [Alzheimer's Disease](/diseases/alzheimers-disease)
- [Synaptic Vesicle Cycle Pathway](/mechanisms/synaptic-vesicle-cycling-pathway)
- [Synaptic Vesicle Trafficking Pathway](/mechanisms/synaptic-vesicle-trafficking-pathway)
- [Synaptic Dysfunction in PD](/mechanisms/synaptic-dysfunction-parkinsons)
- [Dopaminergic Vulnerability Pathway](/mechanisms/dopaminergic-vulnerability)
- [SNCA Gene](/genes/snca)
- [LRRK2 Gene](/genes/lrrk2)
- [VPS35 Gene](/genes/vps35)
- [Synaptic Dysfunction Pathway](/mechanisms/synaptic-dysfunction)
External Links
- [NCBI Gene: SV2C](https://www.ncbi.nlm.nih.gov/gene/22983)
- [UniProt: Q9H0Y9](https://www.uniprot.org/uniprot/Q9H0Y9)
- [Ensembl: ENSG00000170873](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000170873)
- [Allen Brain Atlas: SV2C](https://human.brain-map.org/)
References
[Sheng J, et al, (2014) (2014)](https://pubmed.ncbi.nlm.nih.gov/24759861/)
[Chang CL, et al, (2017) (2017)](https://pubmed.ncbi.nlm.nih.gov/28254380/)
[Madeo M, et al, (2021) (2021)](https://pubmed.ncbi.nlm.nih.gov/34077721/)
[Mai JK, et al, (2019) (2019)](https://pubmed.ncbi.nlm.nih.gov/31190345/)
[Yao PJ, et al, (2018) (2018)](https://pubmed.ncbi.nlm.nih.gov/29321056/)