SV2C (synaptic vesicle glycoprotein 2C)

2014-08-01  

Identity

HGNC
LOCATION
5q13.3
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 22987
MIM: 610291
HGNC: 30670
Ensembl: ENSG00000122012

Variants:

dbSNP: 22987
ClinVar: 22987
TCGA: ENSG00000122012
COSMIC: SV2C

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000122012ENST00000322285B3KT41
ENSG00000122012ENST00000502798Q496J9

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
ECM-receptor interactionKEGGko04512
ECM-receptor interactionKEGGhsa04512
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
Uptake and actions of bacterial toxinsREACTOMER-HSA-5339562
Neurotoxicity of clostridium toxinsREACTOMER-HSA-168799
Toxicity of botulinum toxin type A (BoNT/A)REACTOMER-HSA-5250968
Toxicity of botulinum toxin type D (BoNT/D)REACTOMER-HSA-5250955
Toxicity of botulinum toxin type F (BoNT/F)REACTOMER-HSA-5250981

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447216SchizophreniaDiseaseClinicalAnnotationassociatedPD
PA450688olanzapineChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
242402802014Structural basis for recognition of synaptic vesicle protein 2C by botulinum neurotoxin A.32
272947812016N-linked glycosylation of SV2 is required for binding and uptake of botulinum neurotoxin A.31
236178382014Expression pattern of synaptic vesicle protein 2 (SV2) isoforms in patients with temporal lobe epilepsy and hippocampal sclerosis.18
282463282017Synaptic vesicle glycoprotein 2C (SV2C) modulates dopamine release and is disrupted in Parkinson disease.18
251178202014Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100.14
252825372014Botulinum neurotoxins: new questions arising from structural biology.9
238866752013Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE study.7
189771202009No major role of common SV2A variation for predisposition or levetiracetam response in epilepsy.2

Citation

Dessen P

SV2C (synaptic vesicle glycoprotein 2C)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54678/sv2c