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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SV2C
synaptic vesicle glycoprotein 2C
Chromosome 5 · 5q13.3
NCBI Gene: 22987Ensembl: ENSG00000122012.14HGNC: HGNC:30670UniProt: B3KT41
30PubMed Papers
20Diseases
1Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
Clinical Trials
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnucleoplasmregulation of synaptic vesicle exocytosissynaptic vesicle membranebotulismfracture of pelvismultinodular goiteralcohol drinking
✦AI Summary

SV2C (synaptic vesicle glycoprotein 2C) is a member of the SV2 protein family that plays a critical role in synaptic vesicle function and dopamine neurotransmission 1. The protein is primarily expressed in phylogenetically old brain regions, particularly the basal ganglia including substantia nigra, ventral tegmental area, dorsal striatum, and nucleus accumbens, where it localizes to dopaminergic, GABAergic, and cholinergic neurons 2. SV2C functions as a mediator of dopamine homeostasis by regulating synaptic vesicle exocytosis and dopamine release in the dorsal striatum 1. Genetic deletion of SV2C leads to reduced dopamine release, decreased striatal dopamine content, disrupted α-synuclein expression, and motor function deficits 1. The protein serves as a receptor for botulinum neurotoxin type A and D 34. SV2C has significant clinical relevance in Parkinson's disease (PD), where its expression is dramatically altered in postmortem brain tissue from PD cases 1. A common missense variant (p.Asp543Asn) has been identified as a PD risk factor through genome-wide association studies 5, and SV2C serves as a potential diagnostic biomarker with decreased expression in PD patients' serum 6. The protein represents a promising therapeutic target for neurological disorders involving dopaminergic dysfunction.

Sources cited
1
SV2C (synaptic vesicle glycoprotein 2C) is a member of the SV2 protein family that plays a critical role in synaptic vesicle function and dopamine neurotransmission .
PMID: 28246328
2
The protein is primarily expressed in phylogenetically old brain regions, particularly the basal ganglia including substantia nigra, ventral tegmental area, dorsal striatum, and nucleus accumbens, where it localizes to dopaminergic, GABAergic, and cholinergic neurons .
PMID: 29274878
3
The protein serves as a receptor for botulinum neurotoxin type A and D .
PMID: 40906387
4
The protein serves as a receptor for botulinum neurotoxin type A and D .
PMID: 28774501
5
A common missense variant (p.Asp543Asn) has been identified as a PD risk factor through genome-wide association studies , and SV2C serves as a potential diagnostic biomarker with decreased expression in PD patients' serum .
PMID: 39973496
6
A common missense variant (p.Asp543Asn) has been identified as a PD risk factor through genome-wide association studies , and SV2C serves as a potential diagnostic biomarker with decreased expression in PD patients' serum .
PMID: 38189881
Disease Associationsⓘ20
botulismOpen Targets
0.57Moderate
fracture of pelvisOpen Targets
0.32Weak
multinodular goiterOpen Targets
0.26Weak
Abruptio PlacentaeOpen Targets
0.25Weak
alcohol drinkingOpen Targets
0.25Weak
Parkinson diseaseOpen Targets
0.23Weak
heart diseaseOpen Targets
0.23Weak
HypercholesterolemiaOpen Targets
0.23Weak
epilepsyOpen Targets
0.22Weak
benign neoplasm of adrenal glandOpen Targets
0.21Weak
immune system diseaseOpen Targets
0.21Weak
kidney diseaseOpen Targets
0.21Weak
ureteral disorderOpen Targets
0.20Weak
Abnormality of the immune systemOpen Targets
0.20Weak
malnutritionOpen Targets
0.19Weak
aneurysmOpen Targets
0.17Weak
partial epilepsyOpen Targets
0.09Suggestive
Autosomal dominant striatal neurodegenerationOpen Targets
0.04Suggestive
liver diseaseOpen Targets
0.04Suggestive
mood disorderOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets1
PADSEVONILPhase II/III
GABA-A receptor; anion channel partial agonist
epilepsy
Related Genes
GP2Protein interaction91%LAMC2Protein interaction74%SYT1Protein interaction73%LAMC3Protein interaction73%SV2BProtein interaction69%SV2AProtein interaction58%
Tissue Expression6 tissues
Brain
100%
Ovary
13%
Heart
11%
Bone Marrow
5%
Liver
2%
Lung
2%
Gene Interaction Network
Click a node to explore
SV2CGP2LAMC2SYT1LAMC3SV2BSV2A
PROTEIN STRUCTURE
Preparing viewer…
PDB5JLV · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.72LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.56 [0.43–0.72]
RankingsWhere SV2C stands among ~20K protein-coding genes
  • #12,050of 20,598
    Most Researched30
  • #5,560of 17,882
    Most Constrained (LOEUF)0.72
Genes detectedSV2C
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A fiber-deprived diet causes cognitive impairment and hippocampal microglia-mediated synaptic loss through the gut microbiota and metabolites.
PMID: 34758889
Microbiome · 2021
1.00
2
Immunochemical analysis of the expression of SV2C in mouse, macaque and human brain.
PMID: 29274878
Brain Res · 2019
0.90
3
Rare
PMID: 39973496
J Parkinsons Dis · 2025
0.80
4
Identification of SV2C and DENR as Key Biomarkers for Parkinson's Disease Based on Bioinformatics, Machine Learning, and Experimental Verification.
PMID: 38189881
J Mol Neurosci · 2024
0.70
5
Synaptic vesicle 2C and its synaptic-related function.
PMID: 28774501
Clin Chim Acta · 2017
0.60