Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 22987
MIM: 610291
HGNC: 30670
Ensembl: ENSG00000122012
Variants:
dbSNP: 22987
ClinVar: 22987
TCGA: ENSG00000122012
COSMIC: SV2C
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000122012 | ENST00000322285 | B3KT41 |
| ENSG00000122012 | ENST00000502798 | Q496J9 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA447216 | Schizophrenia | Disease | ClinicalAnnotation | associated | PD | ||
| PA450688 | olanzapine | Chemical | ClinicalAnnotation | associated | PD |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37544580 | 2023 | Correlation of SV2C rs1423099 single nucleotide polymorphism with sporadic Parkinson's disease in Han population in Southern China. | 1 |
| 37544580 | 2023 | Correlation of SV2C rs1423099 single nucleotide polymorphism with sporadic Parkinson's disease in Han population in Southern China. | 1 |
| 33588752 | 2021 | Differentiation of two human neuroblastoma cell lines alters SV2 expression patterns. | 3 |
| 33588752 | 2021 | Differentiation of two human neuroblastoma cell lines alters SV2 expression patterns. | 3 |
| 32310270 | 2020 | Identification of Risk Loci for Parkinson Disease in Asians and Comparison of Risk Between Asians and Europeans: A Genome-Wide Association Study. | 94 |
| 32310270 | 2020 | Identification of Risk Loci for Parkinson Disease in Asians and Comparison of Risk Between Asians and Europeans: A Genome-Wide Association Study. | 94 |
| 28246328 | 2017 | Synaptic vesicle glycoprotein 2C (SV2C) modulates dopamine release and is disrupted in Parkinson disease. | 62 |
| 28246328 | 2017 | Synaptic vesicle glycoprotein 2C (SV2C) modulates dopamine release and is disrupted in Parkinson disease. | 62 |
| 27294781 | 2016 | N-linked glycosylation of SV2 is required for binding and uptake of botulinum neurotoxin A. | 60 |
| 27294781 | 2016 | N-linked glycosylation of SV2 is required for binding and uptake of botulinum neurotoxin A. | 60 |
| 23617838 | 2014 | Expression pattern of synaptic vesicle protein 2 (SV2) isoforms in patients with temporal lobe epilepsy and hippocampal sclerosis. | 29 |
| 24240280 | 2014 | Structural basis for recognition of synaptic vesicle protein 2C by botulinum neurotoxin A. | 59 |
| 25117820 | 2014 | Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100. | 23 |
| 25282537 | 2014 | Botulinum neurotoxins: new questions arising from structural biology. | 11 |
| 23617838 | 2014 | Expression pattern of synaptic vesicle protein 2 (SV2) isoforms in patients with temporal lobe epilepsy and hippocampal sclerosis. | 29 |
Citation
Dessen P
SV2C (synaptic vesicle glycoprotein 2C)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54678/sv2c-(synaptic-vesicle-glycoprotein-2c)
