SV2C: Synaptic Vesicle Glycoprotein 2C
A key regulator of neurotransmitter release and potential biomarker in neurological disorders and cancer
Gene Information Card
| Symbol | SV2C |
|---|---|
| Full Name | Synaptic Vesicle Glycoprotein 2C |
| Gene Type | protein-coding |
| Chromosomal Location | 5q13.3 |
| NCBI Gene ID | 22987 ncbi.nlm.nih.gov/gene/22987 |
| Ensembl ID | ENSG00000164530 |
| UniProt ID | Q496J9 |
| OMIM ID | 611718 |
| HGNC ID | 30670 |
| Aliases | KIAA1172, SV2C variant |
Description
SV2C encodes a synaptic vesicle glycoprotein that belongs to the SV2 family of transmembrane proteins. It is predominantly expressed in the brain, where it modulates neurotransmitter release by regulating calcium-dependent exocytosis. SV2C is also implicated in vesicle trafficking and synaptic plasticity. Alterations in SV2C expression and sequence have been linked to neurological disorders, including Parkinson's disease, and to certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Parkinson's disease | Reduced SV2C expression may impair dopamine release and synaptic function, contributing to motor symptoms. | PMID: 25100062, ClinVar |
| Epilepsy | SV2C variants may alter synaptic vesicle cycling, increasing seizure susceptibility. | PMID: 28934388 |
| Lung cancer | SV2C overexpression in small cell lung cancer (SCLC) correlates with neuroendocrine differentiation. | COSMIC, PMID: 23542377 |
| Melanoma | SV2C mutations found in melanoma samples may affect vesicle trafficking and tumor progression. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Brain (cerebellum) | 15.3 | Medium |
| Testis | 1.2 | Low |
| Lung | 0.8 | Low |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.7 | Neuronal model |
| NCI-H69 (SCLC) | 22.4 | High expression in SCLC |
| A549 (lung adenocarcinoma) | 0.5 | Low expression |
| HEK293 (embryonic kidney) | 0.2 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1246G>A (p.Gly416Arg) | Missense | <0.01% | Unknown functional impact; reported in Parkinson's disease |
| c.1873C>T (p.Arg625Trp) | Missense | <0.01% | May alter protein stability; found in melanoma |
| c.2140_2142del (p.Lys714del) | In-frame deletion | <0.01% | Reported in lung cancer; potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Deletions or truncating mutations that reduce SV2C protein levels or disrupt vesicle binding are predicted to impair neurotransmitter release.
Gain of Function (GOF)
No clear gain-of-function mutations have been characterized for SV2C.
Dominant Negative (DN)
Missense variants that interfere with SV2C oligomerization or vesicle targeting may act in a dominant-negative manner, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • synaptic vesicle membrane (GO:0030672) | • calcium-dependent exocytosis (GO:0017156) |
| • neurotransmitter secretion (GO:0007269) | • protein binding (GO:0005515) |
| • transmembrane transport (GO:0055085) |
Pathways
• Synaptic vesicle cycle (KEGG: hsa04721)
• Neurotransmitter release (Reactome: R-HSA-210500)
Protein Summary
SV2C is a 726-amino-acid transmembrane glycoprotein localized to synaptic vesicle membranes. It contains 12 transmembrane domains and a large luminal loop with N-glycosylation sites. SV2C modulates calcium-triggered exocytosis by interacting with synaptotagmin and other vesicle proteins. Its expression is enriched in the brain, particularly in the basal ganglia and cerebellum, and it is also aberrantly expressed in neuroendocrine tumors such as small cell lung cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SV2C Knockout HEK293 Cell Line | EDJ-KQ7765 | Human | 22987 | Details Get a Quote |
| SV2C Knockout HeLa Cell Line | EDJ-KQ55666 | Human | 22987 | Details Get a Quote |
| SV2C Knockout A-549 Cell Line | EDJ-KQ64165 | Human | 22987 | Details Get a Quote |
| SV2C Knockout HCT 116 Cell Line | EDJ-KQ72610 | Human | 22987 | Details Get a Quote |
